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