| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CIZ1 | Benign | 1|199 | without_ | No | Single base exchange | N/A | |||||||
ENST00000372938(MANE Select) | CIZ1 | Benign | 25|75 | simple_ | No | Single base exchange | Normal |
| |||||
| CIZ1 | Benign | 32|68 | simple_ | No | Single base exchange | Normal |
| ||||||
| CIZ1 | Benign | 33|67 | simple_ | No | Single base exchange | Normal |
| ||||||
| CIZ1 | Benign | 33|67 | simple_ | No | Single base exchange | Normal |
| ||||||
| CIZ1 | Benign | 33|67 | simple_ | No | Single base exchange | Normal |
| ||||||
| CIZ1 | Benign | 34|66 | simple_ | No | Single base exchange | Normal |
| ||||||
| CIZ1 | Benign | 34|66 | simple_ | No | Single base exchange | Normal |
| ||||||
| CIZ1 | Benign | 35|65 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||
| Gene symbol | CIZ1 | |||||||||||||
| Gene constraints | LOEUF: 0.71, LOF (oe): 0.57, misssense (oe): 0.84, synonymous (oe): 1.03 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000651955.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.2454+11G>A g.38138G>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 11 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKTMPV EDKSDPPEGS EEAAEPRMDT PEDQDLPPCP EDIAKEKRTP APEPEPCEAS ELPAKRLRSS EEPTEKEPPG QLQVKAQPQA RMTVPKQTQT PDLLPEALEA QVLPRFQPRV LQVQAQVQSQ TQPRIPSTDT QVQPKLQKQA QTQTSPEHLV LQQKQVQPQL QQEAEPQKQV QPQVHTQAQP SVQPQEHPPA QVSVQPPEQT HEQPHTQPQV SLLAPEQTPV VVHVCGLEMP PDAVEAGGGM EKTLPEPVGT QVSMEEIQNE SACGLDVGEC ENRAREMPGV WGAGGSLKVT ILQSSDSRAF STVPLTPVPR PSDSVSSTPA ATSTPSKQAL QFFCYICKAS CSSQQEFQDH MSEPQHQQRL GEIQHMSQAC LLSLLPVPRD VLETEDEEPP PRRWCNTCQL YYMGDLIQHR RTQDHKIAKQ SLRPFCTVCN RYFKTPRKFV EHVKSQGHKD KAKELKSLEK EIAGQDEDHF ITVDAVGCFE GDEEEEEDDE DEEEIEVEEE LCKQVRSRDI SREEWKGSET YSPNTAYGVD FLVPVMGYIC RICHKFYHSN SGAQLSHCKS LGHFENLQKY KAAKNPSPTT RPVSRRCAIN ARNALTALFT SSGRPPSQPN TQDKTPSKAL * | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 109 / 109 | |||||||||||||
| Last intron/exon boundary | 2562 | |||||||||||||
| Theoretical NMD boundary in CDS | 2403 | |||||||||||||
| Length of CDS | 2463 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 38138 | |||||||||||||
| Chromosomal position | 128166246 | |||||||||||||
| Speed | 0.02 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | CIZ1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.69, LOF (oe): 0.55, misssense (oe): 0.84, synonymous (oe): 1.04 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000372938.10 | |||||||||||||||||||||
| Genbank transcript ID | NM_001131016 (exact from MANE), NM_012127 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | CIZ1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.2648G>A g.38138G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 9 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT* | |||||||||||||||||||||
| Mutated AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TAQPSQPPLP RRSTRLKT* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2697 / 2697 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 899 / 899 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2843 / 2843 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 147 / 147 | |||||||||||||||||||||
| Last intron/exon boundary | 2633 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 2436 | |||||||||||||||||||||
| Length of CDS | 2697 | |||||||||||||||||||||
| Coding sequence (CDS) position | 2648 | |||||||||||||||||||||
| cDNA position | 2794 | |||||||||||||||||||||
| gDNA position | 38138 | |||||||||||||||||||||
| Chromosomal position | 128166246 | |||||||||||||||||||||
| Speed | 0.09 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | CIZ1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.69, LOF (oe): 0.55, misssense (oe): 0.84, synonymous (oe): 1.04 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000634901.1 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | CIZ1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.2648G>A g.38138G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 9 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT* | |||||||||||||||||||||
| Mutated AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TAQPSQPPLP RRSTRLKT* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2697 / 2697 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 899 / 899 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3354 / 3354 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 658 / 658 | |||||||||||||||||||||
| Last intron/exon boundary | 3144 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 2436 | |||||||||||||||||||||
| Length of CDS | 2697 | |||||||||||||||||||||
| Coding sequence (CDS) position | 2648 | |||||||||||||||||||||
| cDNA position | 3305 | |||||||||||||||||||||
| gDNA position | 38138 | |||||||||||||||||||||
| Chromosomal position | 128166246 | |||||||||||||||||||||
| Speed | 0.10 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||
| Gene symbol | CIZ1 | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.57, misssense (oe): 0.84, synonymous (oe): 1.03 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000357558.9 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2564G>A g.38138G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVHTQ AQPSVQPQEH PPAQVSVQPP EQTHEQPHTQ PQVSLLAPEQ TPVVVHVCGL EMPPDAVEAG GGMEKTLPEP VGTQVSMEEI QNESACGLDV GECENRAREM PGVWGAGGSL KVTILQSSDS RAFSTVPLTP VPRPSDSVSS TPAATSTPSK QALQFFCYIC KASCSSQQEF QDHMSEPQHQ QRLGEIQHMS QACLLSLLPV PRDVLETEDE EPPPRRWCNT CQLYYMGDLI QHRRTQDHKI AKQSLRPFCT VCNRYFKTPR KFVEHVKSQG HKDKAKELKS LEKEIAGQDE DHFITVDAVG CFEGDEEEEE DDEDEEEIEV EEELCKQVRS RDISREEWKG SETYSPNTAY GVDFLVPVMG YICRICHKFY HSNSGAQLSH CKSLGHFENL QKYKAAKNPS PTTRPVSRRC AINARNALTA LFTSSGRPPS QPNTQDKTPS KVTARPSQPP LPRRSTRLKT * | |||||||||||||
| Mutated AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVHTQ AQPSVQPQEH PPAQVSVQPP EQTHEQPHTQ PQVSLLAPEQ TPVVVHVCGL EMPPDAVEAG GGMEKTLPEP VGTQVSMEEI QNESACGLDV GECENRAREM PGVWGAGGSL KVTILQSSDS RAFSTVPLTP VPRPSDSVSS TPAATSTPSK QALQFFCYIC KASCSSQQEF QDHMSEPQHQ QRLGEIQHMS QACLLSLLPV PRDVLETEDE EPPPRRWCNT CQLYYMGDLI QHRRTQDHKI AKQSLRPFCT VCNRYFKTPR KFVEHVKSQG HKDKAKELKS LEKEIAGQDE DHFITVDAVG CFEGDEEEEE DDEDEEEIEV EEELCKQVRS RDISREEWKG SETYSPNTAY GVDFLVPVMG YICRICHKFY HSNSGAQLSH CKSLGHFENL QKYKAAKNPS PTTRPVSRRC AINARNALTA LFTSSGRPPS QPNTQDKTPS KVTAQPSQPP LPRRSTRLKT * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2613 / 2613 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 871 / 871 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2776 / 2776 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 164 / 164 | |||||||||||||
| Last intron/exon boundary | 2566 | |||||||||||||
| Theoretical NMD boundary in CDS | 2352 | |||||||||||||
| Length of CDS | 2613 | |||||||||||||
| Coding sequence (CDS) position | 2564 | |||||||||||||
| cDNA position | 2727 | |||||||||||||
| gDNA position | 38138 | |||||||||||||
| Chromosomal position | 128166246 | |||||||||||||
| Speed | 0.12 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||
| Gene symbol | CIZ1 | |||||||||||||
| Gene constraints | LOEUF: 0.69, LOF (oe): 0.56, misssense (oe): 0.87, synonymous (oe): 1.05 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000538431.5 | |||||||||||||
| Genbank transcript ID | NM_001257975 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2816G>A g.38138G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Wildtype AA sequence | MYIRQLRAPS HRSPARGPRI AGPRRPQGAT MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKPPT PRRDVFAHVP VQGWSTARLV TDMIAKQSLR PFCTVCNRYF KTPRKFVEHV KSQGHKDKAK ELKSLEKEIA GQDEDHFITV DAVGCFEGDE EEEEDDEDEE EIEVEEELCK QVRSRDISRE EWKGSETYSP NTAYGVDFLV PVMGYICRIC HKFYHSNSGA QLSHCKSLGH FENLQKYKAA KNPSPTTRPV SRRCAINARN ALTALFTSSG RPPSQPNTQD KTPSKVTARP SQPPLPRRST RLKT* | |||||||||||||
| Mutated AA sequence | MYIRQLRAPS HRSPARGPRI AGPRRPQGAT MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVQPQ AHSQPPRQVQ LQLQKQVQTQ TYPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKPPT PRRDVFAHVP VQGWSTARLV TDMIAKQSLR PFCTVCNRYF KTPRKFVEHV KSQGHKDKAK ELKSLEKEIA GQDEDHFITV DAVGCFEGDE EEEEDDEDEE EIEVEEELCK QVRSRDISRE EWKGSETYSP NTAYGVDFLV PVMGYICRIC HKFYHSNSGA QLSHCKSLGH FENLQKYKAA KNPSPTTRPV SRRCAINARN ALTALFTSSG RPPSQPNTQD KTPSKVTAQP SQPPLPRRST RLKT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2865 / 2865 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 955 / 955 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2865 / 2865 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 2655 | |||||||||||||
| Theoretical NMD boundary in CDS | 2604 | |||||||||||||
| Length of CDS | 2865 | |||||||||||||
| Coding sequence (CDS) position | 2816 | |||||||||||||
| cDNA position | 2816 | |||||||||||||
| gDNA position | 38138 | |||||||||||||
| Chromosomal position | 128166246 | |||||||||||||
| Speed | 0.11 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||
| Gene symbol | CIZ1 | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.57, misssense (oe): 0.84, synonymous (oe): 1.03 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000277465.8 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2564G>A g.38138G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVHTQ AQPSVQPQEH PPAQVSVQPP EQTHEQPHTQ PQVSLLAPEQ TPVVVHVCGL EMPPDAVEAG GGMEKTLPEP VGTQVSMEEI QNESACGLDV GECENRAREM PGVWGAGGSL KVTILQSSDS RAFSTVPLTP VPRPSDSVSS TPAATSTPSK QALQFFCYIC KASCSSQQEF QDHMSEPQHQ QRLGEIQHMS QACLLSLLPV PRDVLETEDE EPPPRRWCNT CQLYYMGDLI QHRRTQDHKI AKQSLRPFCT VCNRYFKTPR KFVEHVKSQG HKDKAKELKS LEKEIAGQDE DHFITVDAVG CFEGDEEEEE DDEDEEEIEV EEELCKQVRS RDISREEWKG SETYSPNTAY GVDFLVPVMG YICRICHKFY HSNSGAQLSH CKSLGHFENL QKYKAAKNPS PTTRPVSRRC AINARNALTA LFTSSGRPPS QPNTQDKTPS KVTARPSQPP LPRRSTRLKT * | |||||||||||||
| Mutated AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVQ PQAHSQGPRQ VQLQQEAEPL KQVQPQVHTQ AQPSVQPQEH PPAQVSVQPP EQTHEQPHTQ PQVSLLAPEQ TPVVVHVCGL EMPPDAVEAG GGMEKTLPEP VGTQVSMEEI QNESACGLDV GECENRAREM PGVWGAGGSL KVTILQSSDS RAFSTVPLTP VPRPSDSVSS TPAATSTPSK QALQFFCYIC KASCSSQQEF QDHMSEPQHQ QRLGEIQHMS QACLLSLLPV PRDVLETEDE EPPPRRWCNT CQLYYMGDLI QHRRTQDHKI AKQSLRPFCT VCNRYFKTPR KFVEHVKSQG HKDKAKELKS LEKEIAGQDE DHFITVDAVG CFEGDEEEEE DDEDEEEIEV EEELCKQVRS RDISREEWKG SETYSPNTAY GVDFLVPVMG YICRICHKFY HSNSGAQLSH CKSLGHFENL QKYKAAKNPS PTTRPVSRRC AINARNALTA LFTSSGRPPS QPNTQDKTPS KVTAQPSQPP LPRRSTRLKT * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2613 / 2613 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 871 / 871 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2616 / 2616 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 4 / 4 | |||||||||||||
| Last intron/exon boundary | 2406 | |||||||||||||
| Theoretical NMD boundary in CDS | 2352 | |||||||||||||
| Length of CDS | 2613 | |||||||||||||
| Coding sequence (CDS) position | 2564 | |||||||||||||
| cDNA position | 2567 | |||||||||||||
| gDNA position | 38138 | |||||||||||||
| Chromosomal position | 128166246 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | ||||||||||||||||
| Gene symbol | CIZ1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.73, LOF (oe): 0.58, misssense (oe): 0.84, synonymous (oe): 1.03 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000372954.5 | ||||||||||||||||
| Genbank transcript ID | NM_001131018 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CIZ1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2408G>A g.38138G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 9 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGNLRG YGMASPGLAA PSLTPPQLAT PNLQQFFPQA TRQSLLGPPP VGVPMNPSQF NLSGRNPQKQ ARTSSSTTPN RKDSSSQTMP VEDKSDPPEG SEEAAEPRMD TPEDQDLPPC PEDIAKEKRT PAPEPEPCEA SELPAKRLRS SEEPTEKEPP GQLQVKAQPQ ARMTVPKQTQ TPDLLPEALE AQVLPRFQPR VLQVQAQVQS QTQPRIPSTD TQVQPKLQKQ AQTQTSPEHL VLQQKQVQPQ LQQEAEPQKQ VQPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TARPSQPPLP RRSTRLKT* | ||||||||||||||||
| Mutated AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGNLRG YGMASPGLAA PSLTPPQLAT PNLQQFFPQA TRQSLLGPPP VGVPMNPSQF NLSGRNPQKQ ARTSSSTTPN RKDSSSQTMP VEDKSDPPEG SEEAAEPRMD TPEDQDLPPC PEDIAKEKRT PAPEPEPCEA SELPAKRLRS SEEPTEKEPP GQLQVKAQPQ ARMTVPKQTQ TPDLLPEALE AQVLPRFQPR VLQVQAQVQS QTQPRIPSTD TQVQPKLQKQ AQTQTSPEHL VLQQKQVQPQ LQQEAEPQKQ VQPQVHTQAQ PSVQPQEHPP AQVSVQPPEQ THEQPHTQPQ VSLLAPEQTP VVVHVCGLEM PPDAVEAGGG MEKTLPEPVG TQVSMEEIQN ESACGLDVGE CENRAREMPG VWGAGGSLKV TILQSSDSRA FSTVPLTPVP RPSDSVSSTP AATSTPSKQA LQFFCYICKA SCSSQQEFQD HMSEPQHQQR LGEIQHMSQA CLLSLLPVPR DVLETEDEEP PPRRWCNTCQ LYYMGDLIQH RRTQDHKIAK QSLRPFCTVC NRYFKTPRKF VEHVKSQGHK DKAKELKSLE KEIAGQDEDH FITVDAVGCF EGDEEEEEDD EDEEEIEVEE ELCKQVRSRD ISREEWKGSE TYSPNTAYGV DFLVPVMGYI CRICHKFYHS NSGAQLSHCK SLGHFENLQK YKAAKNPSPT TRPVSRRCAI NARNALTALF TSSGRPPSQP NTQDKTPSKV TAQPSQPPLP RRSTRLKT* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2457 / 2457 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 819 / 819 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2599 / 2599 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 143 / 143 | ||||||||||||||||
| Last intron/exon boundary | 2389 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2196 | ||||||||||||||||
| Length of CDS | 2457 | ||||||||||||||||
| Coding sequence (CDS) position | 2408 | ||||||||||||||||
| cDNA position | 2550 | ||||||||||||||||
| gDNA position | 38138 | ||||||||||||||||
| Chromosomal position | 128166246 | ||||||||||||||||
| Speed | 0.11 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | ||||||||||||||||
| Gene symbol | CIZ1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.73, LOF (oe): 0.58, misssense (oe): 0.85, synonymous (oe): 1.03 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000372948.7 | ||||||||||||||||
| Genbank transcript ID | NM_001131015 (by similarity), NM_001131017 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | CIZ1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2480G>A g.38138G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 9 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | ||||||||||||||||
| Wildtype AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVH TQAQPSVQPQ EHPPAQVSVQ PPEQTHEQPH TQPQVSLLAP EQTPVVVHVC GLEMPPDAVE AGGGMEKTLP EPVGTQVSME EIQNESACGL DVGECENRAR EMPGVWGAGG SLKVTILQSS DSRAFSTVPL TPVPRPSDSV SSTPAATSTP SKQALQFFCY ICKASCSSQQ EFQDHMSEPQ HQQRLGEIQH MSQACLLSLL PVPRDVLETE DEEPPPRRWC NTCQLYYMGD LIQHRRTQDH KIAKQSLRPF CTVCNRYFKT PRKFVEHVKS QGHKDKAKEL KSLEKEIAGQ DEDHFITVDA VGCFEGDEEE EEDDEDEEEI EVEEELCKQV RSRDISREEW KGSETYSPNT AYGVDFLVPV MGYICRICHK FYHSNSGAQL SHCKSLGHFE NLQKYKAAKN PSPTTRPVSR RCAINARNAL TALFTSSGRP PSQPNTQDKT PSKVTARPSQ PPLPRRSTRL KT* | ||||||||||||||||
| Mutated AA sequence | MFSQQQQQQL QQQQQQLQQL QQQQLQQQQL QQQQLLQLQQ LLQQSPPQAP LPMAVSRGLP PQQPQQPLLN LQGTNSASLL NGSMLQRALL LQQLQGLDQF AMPPATYDTA GLTMPTATLG NLRGYGMASP GLAAPSLTPP QLATPNLQQF FPQATRQSLL GPPPVGVPMN PSQFNLSGRN PQKQARTSSS TTPNRKDSSS QTMPVEDKSD PPEGSEEAAE PRMDTPEDQD LPPCPEDIAK EKRTPAPEPE PCEASELPAK RLRSSEEPTE KEPPGQLQVK AQPQARMTVP KQTQTPDLLP EALEAQVLPR FQPRVLQVQA QVQSQTQPRI PSTDTQVQPK LQKQAQTQTS PEHLVLQQKQ VQPQLQQEAE PQKQVQPQVH TQAQPSVQPQ EHPPAQVSVQ PPEQTHEQPH TQPQVSLLAP EQTPVVVHVC GLEMPPDAVE AGGGMEKTLP EPVGTQVSME EIQNESACGL DVGECENRAR EMPGVWGAGG SLKVTILQSS DSRAFSTVPL TPVPRPSDSV SSTPAATSTP SKQALQFFCY ICKASCSSQQ EFQDHMSEPQ HQQRLGEIQH MSQACLLSLL PVPRDVLETE DEEPPPRRWC NTCQLYYMGD LIQHRRTQDH KIAKQSLRPF CTVCNRYFKT PRKFVEHVKS QGHKDKAKEL KSLEKEIAGQ DEDHFITVDA VGCFEGDEEE EEDDEDEEEI EVEEELCKQV RSRDISREEW KGSETYSPNT AYGVDFLVPV MGYICRICHK FYHSNSGAQL SHCKSLGHFE NLQKYKAAKN PSPTTRPVSR RCAINARNAL TALFTSSGRP PSQPNTQDKT PSKVTAQPSQ PPLPRRSTRL KT* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2529 / 2529 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 843 / 843 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2732 / 2732 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 204 / 204 | ||||||||||||||||
| Last intron/exon boundary | 2522 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2268 | ||||||||||||||||
| Length of CDS | 2529 | ||||||||||||||||
| Coding sequence (CDS) position | 2480 | ||||||||||||||||
| cDNA position | 2683 | ||||||||||||||||
| gDNA position | 38138 | ||||||||||||||||
| Chromosomal position | 128166246 | ||||||||||||||||
| Speed | 0.09 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:128166246C>T (GRCh38) | |||||||||||||
| Gene symbol | CIZ1 | |||||||||||||
| Gene constraints | LOEUF: 0.63, LOF (oe): 0.49, misssense (oe): 0.82, synonymous (oe): 1.02 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000629610.2 | |||||||||||||
| Genbank transcript ID | NM_001257976 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | CIZ1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2345G>A g.38138G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered gDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Original cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCGACCCTCCCAGCCCCCACTAC | |||||||||||||
| Altered cDNA sequence snippet | ACCCAGCAAGGTGACGGCTCAACCCTCCCAGCCCCCACTAC | |||||||||||||
| Wildtype AA sequence | MPPATYDTAG LTMPTATLGN LRGYGMASPG LAAPSLTPPQ LATPNLQQFF PQATRQSLLG PPPVGVPMNP SQFNLSGRNP QKQARTSSST TPNRKDSSSQ TMPVEDKSDP PEGSEEAAEP RMDTPEDQDL PPCPEDIAKE KRTPAPEPEP CEASELPAKR LRSSEEPTEK EPPGQLQVKA QPQARMTVPK QTQTPDLLPE ALEAQVLPRF QPRVLQVQAQ VQSQTQPRIP STDTQVQPKL QKQAQTQTSP EHLVLQQKQV QPQLQQEAEP QKQVQPQVQP QAHSQGPRQV QLQQEAEPLK QVQPQVQPQA HSQPPRQVQL QLQKQVQTQT YPQVHTQAQP SVQPQEHPPA QVSVQPPEQT HEQPHTQPQV SLLAPEQTPV VVHVCGLEMP PDAVEAGGGM EKTLPEPVGT QVSMEEIQNE SACGLDVGEC ENRAREMPGV WGAGGSLKVT ILQSSDSRAF STVPLTPVPR PSDSVSSTPA ATSTPSKQAL QFFCYICKAS CSSQQEFQDH MSEPQHQQRL GEIQHMSQAC LLSLLPVPRD VLETEDEEPP PRRWCNTCQL YYMGDLIQHR RTQDHKIAKQ SLRPFCTVCN RYFKTPRKFV EHVKSQGHKD KAKELKSLEK EIAGQDEDHF ITVDAVGCFE GDEEEEEDDE DEEEIEVEEE LCKQVRSRDI SREEWKGSET YSPNTAYGVD FLVPVMGYIC RICHKFYHSN SGAQLSHCKS LGHFENLQKY KAAKNPSPTT RPVSRRCAIN ARNALTALFT SSGRPPSQPN TQDKTPSKVT ARPSQPPLPR RSTRLKT* | |||||||||||||
| Mutated AA sequence | MPPATYDTAG LTMPTATLGN LRGYGMASPG LAAPSLTPPQ LATPNLQQFF PQATRQSLLG PPPVGVPMNP SQFNLSGRNP QKQARTSSST TPNRKDSSSQ TMPVEDKSDP PEGSEEAAEP RMDTPEDQDL PPCPEDIAKE KRTPAPEPEP CEASELPAKR LRSSEEPTEK EPPGQLQVKA QPQARMTVPK QTQTPDLLPE ALEAQVLPRF QPRVLQVQAQ VQSQTQPRIP STDTQVQPKL QKQAQTQTSP EHLVLQQKQV QPQLQQEAEP QKQVQPQVQP QAHSQGPRQV QLQQEAEPLK QVQPQVQPQA HSQPPRQVQL QLQKQVQTQT YPQVHTQAQP SVQPQEHPPA QVSVQPPEQT HEQPHTQPQV SLLAPEQTPV VVHVCGLEMP PDAVEAGGGM EKTLPEPVGT QVSMEEIQNE SACGLDVGEC ENRAREMPGV WGAGGSLKVT ILQSSDSRAF STVPLTPVPR PSDSVSSTPA ATSTPSKQAL QFFCYICKAS CSSQQEFQDH MSEPQHQQRL GEIQHMSQAC LLSLLPVPRD VLETEDEEPP PRRWCNTCQL YYMGDLIQHR RTQDHKIAKQ SLRPFCTVCN RYFKTPRKFV EHVKSQGHKD KAKELKSLEK EIAGQDEDHF ITVDAVGCFE GDEEEEEDDE DEEEIEVEEE LCKQVRSRDI SREEWKGSET YSPNTAYGVD FLVPVMGYIC RICHKFYHSN SGAQLSHCKS LGHFENLQKY KAAKNPSPTT RPVSRRCAIN ARNALTALFT SSGRPPSQPN TQDKTPSKVT AQPSQPPLPR RSTRLKT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2394 / 2394 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 798 / 798 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2727 / 2727 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 334 / 334 | |||||||||||||
| Last intron/exon boundary | 2517 | |||||||||||||
| Theoretical NMD boundary in CDS | 2133 | |||||||||||||
| Length of CDS | 2394 | |||||||||||||
| Coding sequence (CDS) position | 2345 | |||||||||||||
| cDNA position | 2678 | |||||||||||||
| gDNA position | 38138 | |||||||||||||
| Chromosomal position | 128166246 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project