Evidence Details for ATP6V1B2
Basic Information Top
| Gene Symbol: | ATP6V1B2 ( ATP6B1B2,ATP6B2,HO57,VATB,VPP3,Vma2 ) |
|---|---|
| Gene Full Name: | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 |
| Band: | 8p21.3 |
| Quick Links | Entrez ID:526; OMIM: 606939; Uniprot ID:VATB2_HUMAN; ENSEMBL ID: ENSG00000147416; HGNC ID: 854 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATP6V1B2|526|nucleotide
ATGGCGCTGCGGGCGATGCGGGGGATTGTCAACGGGGCCGCACCCGAGCTACCCGTGCCCACCGGTGGGCCGGCGGTGGGAGCTCGGGAGCAGGCGCTGGCAGTC
AGTCGGAACTACCTCTCCCAGCCTCGCCTCACATACAAGACAGTATCTGGAGTCAATGGTCCACTAGTGATCTTAGATCATGTTAAGTTTCCCAGGTATGCTGAA
ATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTATTTGAAGGGACTTCAGGTATA
GATGCTAAGAAAACGTCCTGTGAGTTTACTGGGGATATTCTCCGAACACCGGTGTCTGAGGATATGCTTGGTCGGGTATTCAATGGATCGGGAAAACCCATTGAC
AGAGGTCCTGTTGTACTGGCCGAAGACTTCCTTGATATCATGGGTCAGCCAATCAACCCTCAATGTCGAATCTACCCAGAGGAAATGATTCAGACTGGCATTTCG
GCCATCGATGGGATGAACAGTATTGCTAGGGGGCAGAAAATTCCTATCTTCTCTGCTGCTGGGCTACCACACAATGAGATTGCAGCTCAGATCTGTCGCCAGGCT
GGTTTGGTAAAGAAATCCAAAGATGTAGTAGACTACAGTGAGGAAAATTTTGCAATTGTATTTGCTGCTATGGGTGTAAACATGGAAACTGCCCGGTTCTTCAAA
TCTGACTTTGAAGAAAATGGCTCAATGGACAATGTCTGCCTCTTTTTGAACTTGGCTAATGACCCAACCATTGAGCGAATTATCACTCCTCGCCTGGCTCTAACC
ACAGCTGAATTTCTGGCGTACCAATGTGAGAAACATGTATTGGTTATTCTAACAGACATGAGTTCTTATGCTGAAGCACTTCGAGAGGTTTCAGCAGCCAGGGAA
GAGGTACCTGGTCGACGAGGTTTTCCAGGTTACATGTATACAGATTTAGCCACGATATATGAACGCGCTGGGCGAGTGGAAGGGAGAAACGGCTCGATTACTCAA
ATCCCTATTCTAACCATGCCTAATGATGATATCACTCACCCCATCCCAGACTTGACTGGCTACATTACAGAGGGGCAGATCTATGTGGACAGACAGCTGCACAAC
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ATGGCGCTGCGGGCGATGCGGGGGATTGTCAACGGGGCCGCACCCGAGCTACCCGTGCCCACCGGTGGGCCGGCGGTGGGAGCTCGGGAGCAGGCGCTGGCAGTC
AGTCGGAACTACCTCTCCCAGCCTCGCCTCACATACAAGACAGTATCTGGAGTCAATGGTCCACTAGTGATCTTAGATCATGTTAAGTTTCCCAGGTATGCTGAA
ATTGTCCATTTGACCTTACCGGATGGCACAAAGAGAAGTGGGCAAGTTCTGGAAGTTAGTGGTTCCAAGGCAGTAGTTCAGGTATTTGAAGGGACTTCAGGTATA
GATGCTAAGAAAACGTCCTGTGAGTTTACTGGGGATATTCTCCGAACACCGGTGTCTGAGGATATGCTTGGTCGGGTATTCAATGGATCGGGAAAACCCATTGAC
AGAGGTCCTGTTGTACTGGCCGAAGACTTCCTTGATATCATGGGTCAGCCAATCAACCCTCAATGTCGAATCTACCCAGAGGAAATGATTCAGACTGGCATTTCG
GCCATCGATGGGATGAACAGTATTGCTAGGGGGCAGAAAATTCCTATCTTCTCTGCTGCTGGGCTACCACACAATGAGATTGCAGCTCAGATCTGTCGCCAGGCT
GGTTTGGTAAAGAAATCCAAAGATGTAGTAGACTACAGTGAGGAAAATTTTGCAATTGTATTTGCTGCTATGGGTGTAAACATGGAAACTGCCCGGTTCTTCAAA
TCTGACTTTGAAGAAAATGGCTCAATGGACAATGTCTGCCTCTTTTTGAACTTGGCTAATGACCCAACCATTGAGCGAATTATCACTCCTCGCCTGGCTCTAACC
ACAGCTGAATTTCTGGCGTACCAATGTGAGAAACATGTATTGGTTATTCTAACAGACATGAGTTCTTATGCTGAAGCACTTCGAGAGGTTTCAGCAGCCAGGGAA
GAGGTACCTGGTCGACGAGGTTTTCCAGGTTACATGTATACAGATTTAGCCACGATATATGAACGCGCTGGGCGAGTGGAAGGGAGAAACGGCTCGATTACTCAA
ATCCCTATTCTAACCATGCCTAATGATGATATCACTCACCCCATCCCAGACTTGACTGGCTACATTACAGAGGGGCAGATCTATGTGGACAGACAGCTGCACAAC
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>ATP6V1B2|526|protein
MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVILDHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGI
DAKKTSCEFTGDILRTPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGMNSIARGQKIPIFSAAGLPHNEIAAQICRQA
GLVKKSKDVVDYSEENFAIVFAAMGVNMETARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAARE
EVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDDITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSN
QLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIGWQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH
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MALRAMRGIVNGAAPELPVPTGGPAVGAREQALAVSRNYLSQPRLTYKTVSGVNGPLVILDHVKFPRYAEIVHLTLPDGTKRSGQVLEVSGSKAVVQVFEGTSGI
DAKKTSCEFTGDILRTPVSEDMLGRVFNGSGKPIDRGPVVLAEDFLDIMGQPINPQCRIYPEEMIQTGISAIDGMNSIARGQKIPIFSAAGLPHNEIAAQICRQA
GLVKKSKDVVDYSEENFAIVFAAMGVNMETARFFKSDFEENGSMDNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAARE
EVPGRRGFPGYMYTDLATIYERAGRVEGRNGSITQIPILTMPNDDITHPIPDLTGYITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHADVSN
QLYACYAIGKDVQAMKAVVGEEALTSDDLLYLEFLQKFERNFIAQGPYENRTVFETLDIGWQLLRIFPKEMLKRIPQSTLSEFYPRDSAKH
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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 (5) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
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 | ||||||
| Papanikolaou, 2006 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top