Evidence Details for ATP6V1E1
Basic Information Top
| Gene Symbol: | ATP6V1E1 ( ATP6E,ATP6E2,ATP6V1E,P31,Vma4 ) |
|---|---|
| Gene Full Name: | ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 |
| Band: | 22q11.21 |
| Quick Links | Entrez ID:529; OMIM: 108746; Uniprot ID:VATE1_HUMAN; ENSEMBL ID: ENSG00000131100; HGNC ID: 857 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATP6V1E1|529|nucleotide
ATGGCTCTCAGCGATGCTGACGTGCAAAAGCAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTAT
GAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGATGACCTTATCACA
GACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGGTTTGTACCAGTTG
CTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGAT
GTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAA
AGCCGGCTGGATCTCATAGCCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAA
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ATGGCTCTCAGCGATGCTGACGTGCAAAAGCAGGCAGAAGAAGAGTTCAACATAGAGAAAGGTCGGCTTGTGCAAACCCAAAGACTAAAGATTATGGAATATTAT
GAGAAGAAAGAGAAACAGATTGAGCAGCAGAAGAAAATTCAGATGTCCAATTTGATGAATCAAGCGAGACTCAAAGTCCTCAGAGCAAGAGATGACCTTATCACA
GACCTACTAAATGAAGCAAAACAGAGACTCAGCAAGGTGGTAAAAGATACAACCAGGTACCAAGTGCTGCTGGATGGACTGGTTCTCCAGGGTTTGTACCAGTTG
CTGGAGCCCCGAATGATTGTTCGTTGCAGGAAACAAGATTTCCCTCTGGTAAAGGCTGCAGTGCAGAAGGCAATTCCTATGTACAAAATTGCCACCAAAAACGAT
GTTGATGTCCAAATTGACCAGGAGTCCTACCTGCCTGAAGACATAGCTGGTGGAGTTGAGATCTATAATGGAGATCGTAAAATAAAGGTTTCCAACACCCTGGAA
AGCCGGCTGGATCTCATAGCCCAGCAGATGATGCCAGAAGTCCGGGGAGCCTTGTTTGGTGCAAATGCCAACAGGAAGTTTTTGGACTAA
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>ATP6V1E1|529|protein
MALSDADVQKQAEEEFNIEKGRLVQTQRLKIMEYYEKKEKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLVLQGLYQL
LEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGGVEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD
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MALSDADVQKQAEEEFNIEKGRLVQTQRLKIMEYYEKKEKQIEQQKKIQMSNLMNQARLKVLRARDDLITDLLNEAKQRLSKVVKDTTRYQVLLDGLVLQGLYQL
LEPRMIVRCRKQDFPLVKAAVQKAIPMYKIATKNDVDVQIDQESYLPEDIAGGVEIYNGDRKIKVSNTLESRLDLIAQQMMPEVRGALFGANANRKFLD
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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) | No | 0 (0) | 1 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Roubertie, 2001 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Niklasson, 2002 | Sweden | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ramelli, 2008 | - | FISH | | | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Bailey, 1998 | - | microsatellite-based genomic screen |  | | PDD | 99 | - | 99 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.