AutismKB 2.0

Evidence Details for ANKFY1


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Basic Information Top
Gene Symbol:ANKFY1 ( ANKHZN,DKFZp686M19106,KIAA1255,ZFYVE14 )
Gene Full Name: ankyrin repeat and FYVE domain containing 1
Band: 17p13.2
Quick LinksEntrez ID:51479; OMIM: 607927; Uniprot ID:ANFY1_HUMAN; ENSEMBL ID: ENSG00000185722; HGNC ID: 20763
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKFY1|51479|nucleotide
ATGGCGGAAGAGGAGGTGGCCAAGTTGGAGAAGCACTTGATGCTTCTGCGGCAGGAGTATGTCAAGCTGCAGAAGAAGCTGGCGGAGACAGAGAAGCGCTGCGCT
CTCTTGGCTGCGCAGGCAAACAAGGAGAGCAGCAGCGAGTCCTTCATCAGCCGTCTGCTGGCCATCGTGGCAGACCTCTACGAGCAGGAGCAGTACAGCGATCTG
AAGATAAAGGTTGGGGACAGGCACATCAGTGCTCACAAGTTTGTCCTGGCAGCCCGCAGTGACAGCTGGAGTCTGGCTAACTTGTCTTCCACTAAAGAGTTGGAC
CTGTCAGATGCTAATCCTGAGGTGACGATGACAATGCTTCGCTGGATCTATACAGATGAGCTGGAGTTCAGAGAGGATGATGTGTTCCTGACTGAACTGATGAAA
CTAGCAAATCGGTTTCAGCTACAGCTCCTCAGGGAGAGATGTGAGAAGGGTGTTATGTCTCTAGTGAATGTCAGGAACTGTATTCGCTTCTACCAGACGGCAGAG
GAGCTGAATGCCAGCACACTGATGAACTACTGTGCAGAAATTATTGCAAGTCATTGGGACGACCTGAGGAAGGAGGATTTCAGCAGCATGAGCGCTCAGTTGTTA
TACAAAATGATCAAATCCAAGACAGAGTACCCGCTACATAAAGCCATCAAAGTGGAGAGAGAAGACGTGGTCTTCCTGTATCTGATTGAAATGGATTCCCAGCTC
CCTGGGAAGCTGAATGAAGCGGATCATAACGGAGATCTGGCATTAGATCTAGCCCTCTCACGACGACTGGAGAGTATTGCCACCACGCTGGTTAGTCACAAAGCT
GATGTGGACATGGTGGACAAGAGTGGCTGGAGCTTGTTACACAAAGGAATCCAAAGAGGAGATCTCTTTGCTGCCACTTTCCTCATTAAGAATGGGGCCTTTGTC
AACGCTGCTACACTGGGTGCCCAGGAGACACCACTGCACCTTGTGGCCTTGTACAGTTCAAAGAAACACTCAGCAGATGTGATGTCTGAGATGGCGCAGATTGCA
GAGGCCCTTCTGCAGGCTGGTGCCAACCCCAACATGCAGGACAGCAAGGGGAGGACTCCTTTACATGTGTCCATCATGGCCGGGAATGAATATGTGTTCAGTCAG
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>ANKFY1|51479|protein
MAEEEVAKLEKHLMLLRQEYVKLQKKLAETEKRCALLAAQANKESSSESFISRLLAIVADLYEQEQYSDLKIKVGDRHISAHKFVLAARSDSWSLANLSSTKELD
LSDANPEVTMTMLRWIYTDELEFREDDVFLTELMKLANRFQLQLLRERCEKGVMSLVNVRNCIRFYQTAEELNASTLMNYCAEIIASHWDDLRKEDFSSMSAQLL
YKMIKSKTEYPLHKAIKVEREDVVFLYLIEMDSQLPGKLNEADHNGDLALDLALSRRLESIATTLVSHKADVDMVDKSGWSLLHKGIQRGDLFAATFLIKNGAFV
NAATLGAQETPLHLVALYSSKKHSADVMSEMAQIAEALLQAGANPNMQDSKGRTPLHVSIMAGNEYVFSQLLQCKQLDLELKDHEGSTALWLAVQHITVSSDQSV
NPFEDVPVVNGTSFDENSFAARLIQRGSHTDAPDTATGNCLLQRAAGAGNEAAALFLATNGAHVNHRNKWGETPLHTACRHGLANLTAELLQQGANPNLQTEEAL
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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