Evidence Details for ATP10B
Basic Information Top
Gene Symbol: | ATP10B ( ATPVB,FLJ21477,KIAA0715 ) |
---|---|
Gene Full Name: | ATPase, class V, type 10B |
Band: | 5q34 |
Quick Links | Entrez ID:23120; OMIM: NA; Uniprot ID:AT10B_HUMAN; ENSEMBL ID: ENSG00000118322; HGNC ID: 13543 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ATP10B|23120|nucleotide
ATGGCCCTCTCAGTGGACTCATCGTGGCATCGGTGGCAGTGGAGAGTCAGAGATGGCTTCCCCCATTGTCCATCGGAAACCACACCGCTGCTCTCTCCAGAGAAA
GGGAGACAGAGCTACAACTTGACACAGCAGCGGGTCGTGTTCCCCAACAACAGCATATTCCATCAAGATTGGGAAGAGGTCTCCAGGAGATACCCTGGCAACAGA
ACCTGCACAACCAAATACACCCTCTTCACCTTCCTGCCCCGGAATCTCTTTGAGCAATTTCATAGATGGGCTAACCTCTATTTCCTGTTCCTGGTGATTTTGAAC
TGGATGCCCTCCATGGAAGTCTTCCACAGAGAAATCACCATGTTACCATTGGCCATTGTCCTGTTCGTCATCATGATCAAGGATGGCATGGAGGACTTCAAGAGA
CACCGCTTTGATAAAGCAATAAACTGCTCCAACATTCGAATTTATGAAAGAAAAGAGCAGACCTATGTGCAGAAGTGCTGGAAGGATGTGCGCGTGGGAGACTTC
ATCCAAATGAAATGCAATGAGATTGTCCCAGCAGACATACTCCTCCTTTTTTCCTCTGACCCCAATGGGATATGCCATCTGGAAACTGCCAGCTTGGATGGAGAG
ACAAACCTCAAGCAAAGATGTGTCGTGAAGGGCTTCTCACAGCAGGAGGTACAGTTCGAACCAGAGCTTTTCCACAATACCATCGTGTGTGAGAAACCCAACAAC
CACCTCAACAAATTTAAGGGTTATATGGAGCATCCTGACCAGACCAGGACTGGCTTTGGCTGTGAGAGTCTTCTGCTTCGAGGCTGCACCATCAGAAACACCGAG
ATGGCTGTTGGCATTGTCATCTATGCAGGCCATGAGACGAAAGCCATGCTGAACAACAGTGGCCCCCGGTACAAACGCAGCAAGATTGAGCGGCGCATGAATATA
GACATCTTCTTCTGCATTGGGATCCTCATCCTCATGTGCCTTATTGGAGCTGTAGGTCACAGCATCTGGAATGGGACCTTTGAAGAACACCCTCCCTTCGATGTG
CCAGATGCCAATGGCAGCTTCCTTCCCAGTGCCCTTGGGGGCTTCTACATGTTCCTCACAATGATCATCCTGCTCCAGGTGCTGATCCCCATCTCTTTGTATGTC
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ATGGCCCTCTCAGTGGACTCATCGTGGCATCGGTGGCAGTGGAGAGTCAGAGATGGCTTCCCCCATTGTCCATCGGAAACCACACCGCTGCTCTCTCCAGAGAAA
GGGAGACAGAGCTACAACTTGACACAGCAGCGGGTCGTGTTCCCCAACAACAGCATATTCCATCAAGATTGGGAAGAGGTCTCCAGGAGATACCCTGGCAACAGA
ACCTGCACAACCAAATACACCCTCTTCACCTTCCTGCCCCGGAATCTCTTTGAGCAATTTCATAGATGGGCTAACCTCTATTTCCTGTTCCTGGTGATTTTGAAC
TGGATGCCCTCCATGGAAGTCTTCCACAGAGAAATCACCATGTTACCATTGGCCATTGTCCTGTTCGTCATCATGATCAAGGATGGCATGGAGGACTTCAAGAGA
CACCGCTTTGATAAAGCAATAAACTGCTCCAACATTCGAATTTATGAAAGAAAAGAGCAGACCTATGTGCAGAAGTGCTGGAAGGATGTGCGCGTGGGAGACTTC
ATCCAAATGAAATGCAATGAGATTGTCCCAGCAGACATACTCCTCCTTTTTTCCTCTGACCCCAATGGGATATGCCATCTGGAAACTGCCAGCTTGGATGGAGAG
ACAAACCTCAAGCAAAGATGTGTCGTGAAGGGCTTCTCACAGCAGGAGGTACAGTTCGAACCAGAGCTTTTCCACAATACCATCGTGTGTGAGAAACCCAACAAC
CACCTCAACAAATTTAAGGGTTATATGGAGCATCCTGACCAGACCAGGACTGGCTTTGGCTGTGAGAGTCTTCTGCTTCGAGGCTGCACCATCAGAAACACCGAG
ATGGCTGTTGGCATTGTCATCTATGCAGGCCATGAGACGAAAGCCATGCTGAACAACAGTGGCCCCCGGTACAAACGCAGCAAGATTGAGCGGCGCATGAATATA
GACATCTTCTTCTGCATTGGGATCCTCATCCTCATGTGCCTTATTGGAGCTGTAGGTCACAGCATCTGGAATGGGACCTTTGAAGAACACCCTCCCTTCGATGTG
CCAGATGCCAATGGCAGCTTCCTTCCCAGTGCCCTTGGGGGCTTCTACATGTTCCTCACAATGATCATCCTGCTCCAGGTGCTGATCCCCATCTCTTTGTATGTC
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>ATP10B|23120|protein
MALSVDSSWHRWQWRVRDGFPHCPSETTPLLSPEKGRQSYNLTQQRVVFPNNSIFHQDWEEVSRRYPGNRTCTTKYTLFTFLPRNLFEQFHRWANLYFLFLVILN
WMPSMEVFHREITMLPLAIVLFVIMIKDGMEDFKRHRFDKAINCSNIRIYERKEQTYVQKCWKDVRVGDFIQMKCNEIVPADILLLFSSDPNGICHLETASLDGE
TNLKQRCVVKGFSQQEVQFEPELFHNTIVCEKPNNHLNKFKGYMEHPDQTRTGFGCESLLLRGCTIRNTEMAVGIVIYAGHETKAMLNNSGPRYKRSKIERRMNI
DIFFCIGILILMCLIGAVGHSIWNGTFEEHPPFDVPDANGSFLPSALGGFYMFLTMIILLQVLIPISLYVSIELVKLGQVFFLSNDLDLYDEETDLSIQCRALNI
AEDLGQIQYIFSDKTGTLTENKMVFRRCTIMGSEYSHQENAKRLETPKELDSDGEEWTQYQCLSFSARWAQDPATMRSQKGAQPLRRSQSARVPIQGHYRQRSMG
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MALSVDSSWHRWQWRVRDGFPHCPSETTPLLSPEKGRQSYNLTQQRVVFPNNSIFHQDWEEVSRRYPGNRTCTTKYTLFTFLPRNLFEQFHRWANLYFLFLVILN
WMPSMEVFHREITMLPLAIVLFVIMIKDGMEDFKRHRFDKAINCSNIRIYERKEQTYVQKCWKDVRVGDFIQMKCNEIVPADILLLFSSDPNGICHLETASLDGE
TNLKQRCVVKGFSQQEVQFEPELFHNTIVCEKPNNHLNKFKGYMEHPDQTRTGFGCESLLLRGCTIRNTEMAVGIVIYAGHETKAMLNNSGPRYKRSKIERRMNI
DIFFCIGILILMCLIGAVGHSIWNGTFEEHPPFDVPDANGSFLPSALGGFYMFLTMIILLQVLIPISLYVSIELVKLGQVFFLSNDLDLYDEETDLSIQCRALNI
AEDLGQIQYIFSDKTGTLTENKMVFRRCTIMGSEYSHQENAKRLETPKELDSDGEEWTQYQCLSFSARWAQDPATMRSQKGAQPLRRSQSARVPIQGHYRQRSMG
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Evidence summary Top
Click 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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | ||||||||
Cukier HN, 2014 | - | Illumina HiSeq 2000 | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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