| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000366875(MANE Select) | CCDC185 | Benign | 23|77 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:223394120C>A (GRCh38) | |||||||||||||||||||||
| Gene symbol | CCDC185 | |||||||||||||||||||||
| Gene constraints | LOEUF: 1.69, LOF (oe): 0.00, misssense (oe): 1.21, synonymous (oe): 1.14 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000366875.5 | |||||||||||||||||||||
| Genbank transcript ID | NM_152610 (exact from MANE) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | CC185_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.645C>A g.706C>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
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| Protein conservation | ||||||||||||||||||||||
| Protein features |
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| Phylogenetic conservation |
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| 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 | 1 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCCCAGAAGAGAGACAGCAGCGACCAGGTTGAGTCATTAGC | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCCCAGAAGAGAGACAGCAGAGACCAGGTTGAGTCATTAGC | |||||||||||||||||||||
| Original cDNA sequence snippet | GCCCAGAAGAGAGACAGCAGCGACCAGGTTGAGTCATTAGC | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCCCAGAAGAGAGACAGCAGAGACCAGGTTGAGTCATTAGC | |||||||||||||||||||||
| Wildtype AA sequence | MAGFSHFSQP PYRDLWEPPR PGGERESTQR LGGQRSGADS TACSRAGTPG AESEAGACWL HPHCSFTPRP RRRGCSDSLR GSRSLSDVAR RPLERSRKHR PRSRRLEDAW GETGTKPRPA WQPQTQLPPQ RPQPCPHYPL AQGDSPPPCP GGAGTPLSGT FRVEKAQGGD QWAVPLGRHL GRWSPSSVPS ERSSVPSQKF KRHSACVCAQ KRDSSDQVES LASRDSQPLA SSKEMRSPHT QVLKSKLEEV VVSSQDQQIV ALVLTRLKKA QRIRELQQQA AKAWEELKRS DQKVQMTLER ERRLLLRQSQ EQWQEKEQRK TLQSPEQRGL RRDSQRKNVP PGESRWKEQP EDQESPRQEK LEKARAQAEH RKQCQVRRLR EQEKMLRNLR EQHSLQLQRR LVEACRKRHL HAVEGQKKVQ DTNLSSLINY QARKVLMDCQ AKAEELLRQL SLEQSFQRSQ EIHQGLRKER QRELREKAQK EEEQLQQARW RAGESEEQRK MRKRILVELA DEKIRQARSH VHKTTRDKVQ HLRELNHLRE KNHHILKLKA EKEEKCHIEG IKEAIKKKEQ RVQHISQGKD PNFQEFQKLP QASRREERAP PNSSLDQMVL EAQLRACQQN RGY* | |||||||||||||||||||||
| Mutated AA sequence | MAGFSHFSQP PYRDLWEPPR PGGERESTQR LGGQRSGADS TACSRAGTPG AESEAGACWL HPHCSFTPRP RRRGCSDSLR GSRSLSDVAR RPLERSRKHR PRSRRLEDAW GETGTKPRPA WQPQTQLPPQ RPQPCPHYPL AQGDSPPPCP GGAGTPLSGT FRVEKAQGGD QWAVPLGRHL GRWSPSSVPS ERSSVPSQKF KRHSACVCAQ KRDSRDQVES LASRDSQPLA SSKEMRSPHT QVLKSKLEEV VVSSQDQQIV ALVLTRLKKA QRIRELQQQA AKAWEELKRS DQKVQMTLER ERRLLLRQSQ EQWQEKEQRK TLQSPEQRGL RRDSQRKNVP PGESRWKEQP EDQESPRQEK LEKARAQAEH RKQCQVRRLR EQEKMLRNLR EQHSLQLQRR LVEACRKRHL HAVEGQKKVQ DTNLSSLINY QARKVLMDCQ AKAEELLRQL SLEQSFQRSQ EIHQGLRKER QRELREKAQK EEEQLQQARW RAGESEEQRK MRKRILVELA DEKIRQARSH VHKTTRDKVQ HLRELNHLRE KNHHILKLKA EKEEKCHIEG IKEAIKKKEQ RVQHISQGKD PNFQEFQKLP QASRREERAP PNSSLDQMVL EAQLRACQQN RGY* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1872 / 1872 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 624 / 624 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1933 / 1933 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 62 / 62 | |||||||||||||||||||||
| Last intron/exon boundary | 0 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||||||||||
| Length of CDS | 1872 | |||||||||||||||||||||
| Coding sequence (CDS) position | 645 | |||||||||||||||||||||
| cDNA position | 706 | |||||||||||||||||||||
| gDNA position | 706 | |||||||||||||||||||||
| Chromosomal position | 223394120 | |||||||||||||||||||||
| Speed | 0.20 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