| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000039007(MANE Select) | OTC | Deleterious | 45|55 | simple_ | No | Yes | Single base exchange | Normal |
| ||||
| OTC | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
| |||||
| OTC | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:38403735C>G (GRCh38) | |||||||||||
| Gene symbol | OTC | |||||||||||
| Gene constraints | no data | |||||||||||
| Ensembl transcript ID | ENST00000039007.5 | |||||||||||
| Genbank transcript ID | NM_000531 (exact from MANE) | |||||||||||
| UniProt / AlphaMissense peptide | OTC_HUMAN | AlphaMissense: transcript, gene | |||||||||||
| Variant type | Single base exchange | |||||||||||
| Gene region | CDS | |||||||||||
| DNA changes | c.658C>G g.76138C>G | |||||||||||
| AA changes |
| |||||||||||
| Frameshift | No | |||||||||||
| Length of protein | Normal | |||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||
| Variant DBs |
| |||||||||||
| Protein conservation | ||||||||||||
| Protein features |
| |||||||||||
| Phylogenetic conservation |
| |||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||
| Distance from splice site | 6 | |||||||||||
| Kozak consensus sequence altered? | No | |||||||||||
| poly(A) signal | N/A | |||||||||||
| AA sequence altered | Yes | |||||||||||
| Chromosome | 23 | |||||||||||
| Strand | 1 | |||||||||||
| Original gDNA sequence snippet | TGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTT | |||||||||||
| Altered gDNA sequence snippet | TGCACCTTCAGGCAGCTACTGCAAAGGTAGGGAAACTTTTT | |||||||||||
| Original cDNA sequence snippet | TGCACCTTCAGGCAGCTACTCCAAAGGGTTATGAGCCGGAT | |||||||||||
| Altered cDNA sequence snippet | TGCACCTTCAGGCAGCTACTGCAAAGGGTTATGAGCCGGAT | |||||||||||
| Wildtype AA sequence | MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF* | |||||||||||
| Mutated AA sequence | MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATA KGYEPDASVT KLAEQYAKEN GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF* | |||||||||||
| Position of stopcodon in wt / mu CDS | 1065 / 1065 | |||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 355 / 355 | |||||||||||
| Position of stopcodon in wt / mu cDNA | 1158 / 1158 | |||||||||||
| Position of start ATG in wt / mu cDNA | 94 / 94 | |||||||||||
| Last intron/exon boundary | 1098 | |||||||||||
| Theoretical NMD boundary in CDS | 954 | |||||||||||
| Length of CDS | 1065 | |||||||||||
| Coding sequence (CDS) position | 658 | |||||||||||
| cDNA position | 751 | |||||||||||
| gDNA position | 76138 | |||||||||||
| Chromosomal position | 38403735 | |||||||||||
| Speed | 0.05 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 | ChrX:38403735C>G (GRCh38) | |||||||||
| Gene symbol | OTC | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000713758.1 | |||||||||
| Genbank transcript ID | NM_001407092 (by similarity) | |||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.658C>G g.76138C>G | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 6 | |||||||||
| Kozak consensus sequence altered? | No | |||||||||
| poly(A) signal | N/A | |||||||||
| AA sequence altered | Yes | |||||||||
| Chromosome | 23 | |||||||||
| Strand | 1 | |||||||||
| Original gDNA sequence snippet | TGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTT | |||||||||
| Altered gDNA sequence snippet | TGCACCTTCAGGCAGCTACTGCAAAGGTAGGGAAACTTTTT | |||||||||
| Original cDNA sequence snippet | TGCACCTTCAGGCAGCTACTCCAAAGGGTTATGAGCCGGAT | |||||||||
| Altered cDNA sequence snippet | TGCACCTTCAGGCAGCTACTGCAAAGGGTTATGAGCCGGAT | |||||||||
| Wildtype AA sequence | MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATP KGYEPDASVT KLAEQYAKEN GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF* | |||||||||
| Mutated AA sequence | MLFNLRILLN NAAFRNGHNF MVRNFRCGQP LQNKVQLKGR DLLTLKNFTG EEIKYMLWLS ADLKFRIKQK GEYLPLLQGK SLGMIFEKRS TRTRLSTETG FALLGGHPCF LTTQDIHLGV NESLTDTARV LSSMADAVLA RVYKQSDLDT LAKEASIPII NGLSDLYHPI QILADYLTLQ EHYSSLKGLT LSWIGDGNNI LHSIMMSAAK FGMHLQAATA KGYEPDASVT KLAEQYAKEN GTKLLLTNDP LEAAHGGNVL ITDTWISMGQ EEEKKKRLQA FQGYQVTMKT AKVAASDWTF LHCLPRKPEE VDDEVFYSPR SLVFPEAENR KWTIMAVMVS LLTDYSPQLQ KPKF* | |||||||||
| Position of stopcodon in wt / mu CDS | 1065 / 1065 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 355 / 355 | |||||||||
| Position of stopcodon in wt / mu cDNA | 1521 / 1521 | |||||||||
| Position of start ATG in wt / mu cDNA | 457 / 457 | |||||||||
| Last intron/exon boundary | 1461 | |||||||||
| Theoretical NMD boundary in CDS | 954 | |||||||||
| Length of CDS | 1065 | |||||||||
| Coding sequence (CDS) position | 658 | |||||||||
| cDNA position | 1114 | |||||||||
| gDNA position | 76138 | |||||||||
| Chromosomal position | 38403735 | |||||||||
| Speed | 0.05 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 | ChrX:38403735C>G (GRCh38) | |||||||||
| Gene symbol | OTC | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000713759.1 | |||||||||
| Genbank transcript ID | ||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.493C>G g.76138C>G | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 6 | |||||||||
| Kozak consensus sequence altered? | No | |||||||||
| poly(A) signal | N/A | |||||||||
| AA sequence altered | Yes | |||||||||
| Chromosome | 23 | |||||||||
| Strand | 1 | |||||||||
| Original gDNA sequence snippet | TGCACCTTCAGGCAGCTACTCCAAAGGTAGGGAAACTTTTT | |||||||||
| Altered gDNA sequence snippet | TGCACCTTCAGGCAGCTACTGCAAAGGTAGGGAAACTTTTT | |||||||||
| Original cDNA sequence snippet | TGCACCTTCAGGCAGCTACTCCAAAGGGTTATGAGCCGGAT | |||||||||
| Altered cDNA sequence snippet | TGCACCTTCAGGCAGCTACTGCAAAGGGTTATGAGCCGGAT | |||||||||
| Wildtype AA sequence | MLWLSADLKF RIKQKGEYLP LLQGKSLGMI FEKRSTRTRL STETGFALLG GHPCFLTTQD IHLGVNESLT DTARVLSSMA DAVLARVYKQ SDLDTLAKEA SIPIINGLSD LYHPIQILAD YLTLQEHYSS LKGLTLSWIG DGNNILHSIM MSAAKFGMHL QAATPKGYEP DASVTKLAEQ YAKENGTKLL LTNDPLEAAH GGNVLITDTW ISMGQEEEKK KRLQAFQGYQ VTMKTAKVAA SDWTFLHCLP RKPEEVDDEV FYSPRSLVFP EAENRKWTIM AVMVSLLTDY SPQLQKPKF* | |||||||||
| Mutated AA sequence | MLWLSADLKF RIKQKGEYLP LLQGKSLGMI FEKRSTRTRL STETGFALLG GHPCFLTTQD IHLGVNESLT DTARVLSSMA DAVLARVYKQ SDLDTLAKEA SIPIINGLSD LYHPIQILAD YLTLQEHYSS LKGLTLSWIG DGNNILHSIM MSAAKFGMHL QAATAKGYEP DASVTKLAEQ YAKENGTKLL LTNDPLEAAH GGNVLITDTW ISMGQEEEKK KRLQAFQGYQ VTMKTAKVAA SDWTFLHCLP RKPEEVDDEV FYSPRSLVFP EAENRKWTIM AVMVSLLTDY SPQLQKPKF* | |||||||||
| Position of stopcodon in wt / mu CDS | 900 / 900 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 300 / 300 | |||||||||
| Position of stopcodon in wt / mu cDNA | 1182 / 1182 | |||||||||
| Position of start ATG in wt / mu cDNA | 283 / 283 | |||||||||
| Last intron/exon boundary | 1122 | |||||||||
| Theoretical NMD boundary in CDS | 789 | |||||||||
| Length of CDS | 900 | |||||||||
| Coding sequence (CDS) position | 493 | |||||||||
| cDNA position | 775 | |||||||||
| gDNA position | 76138 | |||||||||
| Chromosomal position | 38403735 | |||||||||
| Speed | 0.06 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