Evidence Details for VPS13A
Basic Information Top
| Gene Symbol: | VPS13A ( CHAC,CHOREIN,FLJ42030,KIAA0986 ) |
|---|---|
| Gene Full Name: | vacuolar protein sorting 13 homolog A (S. cerevisiae) |
| Band: | 9q21.2 |
| Quick Links | Entrez ID:23230; OMIM: 605978; Uniprot ID:VP13A_HUMAN; ENSEMBL ID: ENSG00000197969; HGNC ID: 1908 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>VPS13A|23230|nucleotide
ATGGTTTTCGAGTCGGTGGTCGTGGACGTGTTGAACCGGTTCTTGGGGGACTATGTGGTGGACTTGGACACGTCCCAGCTCTCTCTGGGCATCTGGAAAGGAGCT
GTGGCCCTCAAGAATCTTCAAATTAAAGAAAATGCCCTGAGTCAACTGGATGTACCATTTAAAGTTAAAGTTGGTCACATAGGTAATCTTAAACTTATAATTCCA
TGGAAAAACCTTTATACTCAACCTGTTGAAGCCGTATTGGAAGAAATTTATTTACTTATAGTGCCTTCTTCTAGAATAAAATATGATCCTTTAAAAGAAGAGAAA
CAACTCATGGAAGCAAAGCAACAGGAACTGAAAAGAATAGAAGAAGCAAAACAAAAAGTAGTTGATCAAGAACAACATCTGCCGGAAAAACAGGACACTTTTGCA
GAAAAATTAGTTACACAGATCATAAAAAATCTTCAGGTGAAAATTTCCAGTATCCATATTCGTTATGAAGATGATATCACAAATCGGGACAAACCGCTGTCATTT
GGTATTTCCCTTCAAAATCTGAGCATGCAGACAACTGATCAATACTGGGTTCCATGTTTACATGATGAAACTGAGAAACTGGTTCGTAAGTTAATCCGATTGGAT
AACCTGTTTGCCTATTGGAATGTGAAGTCTCAGATGTTTTATCTTAGTGATTATGATAACTCCTTGGACGACTTGAAGAATGGCATTGTCAATGAAAATATTGTT
CCAGAAGGTTATGATTTTGTATTTCGTCCCATATCTGCTAATGCCAAACTTGTGATGAATCGCCGATCTGATTTTGACTTTTCTGCCCCCAAAATAAACTTGGAA
ATTGAGTTACATAACATAGCAATTGAATTTAATAAACCACAGTATTTCAGTATTATGGAGCTTCTTGAATCAGTTGATATGATGGCACAAAATCTGCCATATAGG
AAGTTCAAACCTGATGTGCCTCTTCACCACCATGCCAGAGAATGGTGGGCTTATGCTATACATGGCGTTCTTGAAGTAAATGTTTGCCCCAGGTTATGGATGTGG
TCATGGAAGCATATTAGAAAACATAGGCAAAAAGTGAAGCAATATAAAGAACTGTATAAAAAAAAGTTAACAAGTAAGAAGCCACCTGGTGAACTTCTCGTGTCT
Show »
ATGGTTTTCGAGTCGGTGGTCGTGGACGTGTTGAACCGGTTCTTGGGGGACTATGTGGTGGACTTGGACACGTCCCAGCTCTCTCTGGGCATCTGGAAAGGAGCT
GTGGCCCTCAAGAATCTTCAAATTAAAGAAAATGCCCTGAGTCAACTGGATGTACCATTTAAAGTTAAAGTTGGTCACATAGGTAATCTTAAACTTATAATTCCA
TGGAAAAACCTTTATACTCAACCTGTTGAAGCCGTATTGGAAGAAATTTATTTACTTATAGTGCCTTCTTCTAGAATAAAATATGATCCTTTAAAAGAAGAGAAA
CAACTCATGGAAGCAAAGCAACAGGAACTGAAAAGAATAGAAGAAGCAAAACAAAAAGTAGTTGATCAAGAACAACATCTGCCGGAAAAACAGGACACTTTTGCA
GAAAAATTAGTTACACAGATCATAAAAAATCTTCAGGTGAAAATTTCCAGTATCCATATTCGTTATGAAGATGATATCACAAATCGGGACAAACCGCTGTCATTT
GGTATTTCCCTTCAAAATCTGAGCATGCAGACAACTGATCAATACTGGGTTCCATGTTTACATGATGAAACTGAGAAACTGGTTCGTAAGTTAATCCGATTGGAT
AACCTGTTTGCCTATTGGAATGTGAAGTCTCAGATGTTTTATCTTAGTGATTATGATAACTCCTTGGACGACTTGAAGAATGGCATTGTCAATGAAAATATTGTT
CCAGAAGGTTATGATTTTGTATTTCGTCCCATATCTGCTAATGCCAAACTTGTGATGAATCGCCGATCTGATTTTGACTTTTCTGCCCCCAAAATAAACTTGGAA
ATTGAGTTACATAACATAGCAATTGAATTTAATAAACCACAGTATTTCAGTATTATGGAGCTTCTTGAATCAGTTGATATGATGGCACAAAATCTGCCATATAGG
AAGTTCAAACCTGATGTGCCTCTTCACCACCATGCCAGAGAATGGTGGGCTTATGCTATACATGGCGTTCTTGAAGTAAATGTTTGCCCCAGGTTATGGATGTGG
TCATGGAAGCATATTAGAAAACATAGGCAAAAAGTGAAGCAATATAAAGAACTGTATAAAAAAAAGTTAACAAGTAAGAAGCCACCTGGTGAACTTCTCGTGTCT
Show »
>VPS13A|23230|protein
MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVGHIGNLKLIIPWKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEK
QLMEAKQQELKRIEEAKQKVVDQEQHLPEKQDTFAEKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQNLSMQTTDQYWVPCLHDETEKLVRKLIRLD
NLFAYWNVKSQMFYLSDYDNSLDDLKNGIVNENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLEIELHNIAIEFNKPQYFSIMELLESVDMMAQNLPYR
KFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMWSWKHIRKHRQKVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG
VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPTLLKTFEALKFFVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQR
Show »
MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVGHIGNLKLIIPWKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEK
QLMEAKQQELKRIEEAKQKVVDQEQHLPEKQDTFAEKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQNLSMQTTDQYWVPCLHDETEKLVRKLIRLD
NLFAYWNVKSQMFYLSDYDNSLDDLKNGIVNENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLEIELHNIAIEFNKPQYFSIMELLESVDMMAQNLPYR
KFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMWSWKHIRKHRQKVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG
VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPTLLKTFEALKFFVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQR
Show »
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) | No | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bremer, 2011 | - | aCGH | | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.