AutismKB 2.0

Evidence Details for ANO5


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Basic Information Top
Gene Symbol:ANO5 ( GDD1,LGMD2L,TMEM16E )
Gene Full Name: anoctamin 5
Band: 11p14.3
Quick LinksEntrez ID:203859; OMIM: 608662; Uniprot ID:ANO5_HUMAN; ENSEMBL ID: ENSG00000171714; HGNC ID: 27337
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANO5|203859|nucleotide
ATGGGCGACCCGGATCTCCTGGAAGTGTTGGCGGAGGAAGGGGAAAAAGTCAATAAGCATATAGACTACTCTTTCCAAATGAGTGAGAGCCTGAGCAGCAGAGAG
ACCAGCTTTCTCATCAATGAAGAAACAATGCCTGCAAAGCGATTCAATTTGTTCCTGAGGCGGCGGCTTATGTTTCAAAAAAATCAGCAAAGCAAAGATTCTATC
TTCTTCCGAGATGGGATTAGGCAAATTGATTTTGTGCTTTCCTACGTTGATGATGTAAAGAAAGACGCAGAGTTAAAGGCGGAAAGAAGAAAAGAGTTTGAAACT
AATCTCAGAAAAACAGGTCTTGAGTTGGAAATAGAAGACAAAAGGGACTCGGAAGATGGAAGAACTTATTTTGTCAAGATCCATGCCCCTTGGGAGGTATTAGTT
ACCTATGCTGAAGTCTTGGGAATCAAAATGCCTATTAAGGAGAGTGATATTCCCCGCCCTAAGCACACTCCTATAAGCTATGTGCTTGGACCTGTAAGACTCCCA
CTGAGTGTGAAGTATCCCCATCCTGAATATTTTACTGCACAATTCAGCAGACATCGGCAGGAGCTCTTCCTCATCGAAGATCAGGCAACCTTCTTTCCATCCTCA
TCAAGAAACAGAATTGTGTACTATATTCTCTCAAGATGTCCTTTTGGCATAGAAGATGGGAAGAAAAGGTTTGGGATTGAAAGACTGCTAAACTCTAACACTTAC
TCATCTGCCTATCCACTCCATGATGGCCAATATTGGAAGCCATCAGAACCTCCCAATCCTACCAATGAAAGATACACACTTCACCAGAATTGGGCTCGATTTTCC
TATTTCTACAAGGAGCAGCCTTTAGACTTGATTAAGAATTATTATGGAGAAAAAATTGGTATCTATTTTGTCTTTCTTGGATTTTACACAGAAATGCTATTCTTT
GCAGCTGTAGTTGGCTTAGCTTGTTTTATTTATGGCTTATTATCAATGGAACATAACACAAGCAGCACTGAAATCTGTGACCCTGAGATTGGTGGTCAGATGATC
ATGTGCCCACTCTGTGATCAAGTGTGTGATTATTGGAGACTAAATAGTACGTGTTTGGCTTCAAAGTTCTCCCATTTGTTTGATAATGAGTCAACAGTGTTCTTT
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>ANO5|203859|protein
MGDPDLLEVLAEEGEKVNKHIDYSFQMSESLSSRETSFLINEETMPAKRFNLFLRRRLMFQKNQQSKDSIFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFET
NLRKTGLELEIEDKRDSEDGRTYFVKIHAPWEVLVTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVKYPHPEYFTAQFSRHRQELFLIEDQATFFPSS
SRNRIVYYILSRCPFGIEDGKKRFGIERLLNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARFSYFYKEQPLDLIKNYYGEKIGIYFVFLGFYTEMLFF
AAVVGLACFIYGLLSMEHNTSSTEICDPEIGGQMIMCPLCDQVCDYWRLNSTCLASKFSHLFDNESTVFFAIFMGIWVTLFLEFWKQRQARLEYEWDLVDFEEEQ
QQLQLRPEFEAMCKHRKLNAVTKEMEPYMPLYTRIPWYFLSGATVTLWMSLVVTSMVAVIVYRLSVFATFASFMESDASLKQVKSFLTPQITTSLTGSCLNFIVI
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Evidence summary Top

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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top