Evidence Details for VPS13B
Basic Information Top
| Gene Symbol: | VPS13B ( CHS1,COH1,DKFZp313I0811,KIAA0532 ) |
|---|---|
| Gene Full Name: | vacuolar protein sorting 13 homolog B (yeast) |
| Band: | 8q22.2 |
| Quick Links | Entrez ID:157680; OMIM: 607817; Uniprot ID:VP13B_HUMAN; ENSEMBL ID: ENSG00000132549; HGNC ID: 2183 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>VPS13B|157680|nucleotide
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTATGGGGTGGAGACGTG
GTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCA
TGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCT
AATTCTACCAACCGTAGTACTGCTGAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTG
CAGAGTCTGATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATCACTTCT
GCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATCAATTTTTCTGACTGTACAGTT
TGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCCTTCAGAACTCGTCTTCATTTTACATATGAAAACCTA
AATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAACTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTT
GGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAAGAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAA
GATGAAACAAGAATAGATATGCAATATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGG
TCCTTTGTGCCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTGAAGGAT
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ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTATGGGGTGGAGACGTG
GTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCA
TGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGATGACCATGAAAGCTGTGGTTCT
AATTCTACCAACCGTAGTACTGCTGAGAGCACAAAATCATCAATCAAACCGCGGAGAATGCAGCAGGCTGCTCCTACAGATCCTGACTTACCACCAGGTTATGTG
CAGAGTCTGATTAGACGAGTTGTAAATAATGTAAACATTGTGATAAATAATCTCATACTAAAATATGTTGAAGATGATATCGTCCTTTCCGTCAATATCACTTCT
GCAGAATGTTATACAGTAGGTGAATTATGGGATCGTGCATTCATGGATATTTCTGCAACTGATTTGGTGCTGAGAAAGGTTATCAATTTTTCTGACTGTACAGTT
TGTCTTGATAAACGGAATGCCAGTGGTAAAATAGAATTTTACCAGGATCCTTTATTATACAAATGTTCCTTCAGAACTCGTCTTCATTTTACATATGAAAACCTA
AATTCCAAGATGCCATCTGTTATTAAAATTCATACTTTAGTGGAAAGTTTGAAACTTTCTATCACAGATCAACAACTGCCTATGTTTATTCGTATAATGCAACTT
GGAATTGCTCTTTACTATGGAGAAATAGGCAATTTTAAAGAAGGCGAAATAGAGGACCTTACTTGTCATAATAAAGATATGCTAGGAAACATTACAGGTTCTGAA
GATGAAACAAGAATAGATATGCAATATCCTGCTCAGCATAAAGGTCAAGAGTTATATTCACAGCAAGATGAGGAGCAGCCACAGGGATGGGTGTCATGGGCCTGG
TCCTTTGTGCCTGCAATTGTGAGTTATGACGATGGCGAGGAAGACTTTGTTGGGAACGATCCTGCATCAACCATGCATCAACAAAAAGCACAGACTTTGAAGGAT
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>VPS13B|157680|protein
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECILKLKDGIQDDHESCGS
NSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYTVGELWDRAFMDISATDLVLRKVINFSDCTV
CLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQLPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSE
DETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYDDGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKS
KEVLCWEQEGTTVEALMMGEPFFDCQIGFVGCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYT
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MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECILKLKDGIQDDHESCGS
NSTNRSTAESTKSSIKPRRMQQAAPTDPDLPPGYVQSLIRRVVNNVNIVINNLILKYVEDDIVLSVNITSAECYTVGELWDRAFMDISATDLVLRKVINFSDCTV
CLDKRNASGKIEFYQDPLLYKCSFRTRLHFTYENLNSKMPSVIKIHTLVESLKLSITDQQLPMFIRIMQLGIALYYGEIGNFKEGEIEDLTCHNKDMLGNITGSE
DETRIDMQYPAQHKGQELYSQQDEEQPQGWVSWAWSFVPAIVSYDDGEEDFVGNDPASTMHQQKAQTLKDPIVSIGFYCTKATVTFKLTEMQVESSYYSPQKVKS
KEVLCWEQEGTTVEALMMGEPFFDCQIGFVGCRAMCLKGIMGVKDFEENMNRSETEACFFICGDNLSTKGFTYLTNSLFDYRSPENNGTRAEFILDSTHHKETYT
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | Yes | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (4) | 0 (1) | 0 (3) | 1 (1) | 20 (10) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | Cohen syndrome (216550) |
| Description | Cohen syndrome (ID, microcephaly, facial dysmorphism, obesity, retinal dystrophy, and neutropenia); 49% (22/45) meet criteria for autism |
| Reference(s) | 15793684; 11665826; 12690562; 15165433; 21418059; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top