AutismKB 2.0

Evidence Details for AVIL


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Basic Information Top
Gene Symbol:AVIL ( ADVIL,DKFZp779O1812,DOC6,FLJ12386,MGC133244,p92 )
Gene Full Name: advillin
Band: 12q14.1
Quick LinksEntrez ID:10677; OMIM: 613397; Uniprot ID:AVIL_HUMAN; ENSEMBL ID: ENSG00000135407; HGNC ID: 14188
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AVIL|10677|nucleotide
ATGCCTCTGACCAGTGCCTTCAGGGCTGTGGACAACGACCCTGGGATCATTGTCTGGAGAATAGAGAAAATGGAGCTGGCGCTGGTGCCTGTGAGCGCCCACGGC
AACTTCTATGAGGGGGACTGCTACGTCATCCTCTCGACCCGGAGAGTGGCCAGTCTCCTATCCCAGGACATCCACTTCTGGATCGGGAAGGACTCCTCCCAGGAT
GAGCAAAGCTGCGCAGCCATATATACCACACAGCTGGACGACTACCTGGGAGGCAGCCCTGTGCAGCACCGAGAGGTCCAGTACCATGAGTCAGACACTTTCCGT
GGCTACTTCAAGCAGGGCATCATCTACAAGCAGGGGGGTGTCGCCTCTGGGATGAAGCACGTGGAGACCAATACCTACGACGTGAAGCGGCTGCTACATGTGAAA
GGGAAAAGAAACATCAGGGCTACCGAGGTGGAAATGAGCTGGGACAGTTTCAACCGAGGTGATGTCTTCTTGCTGGACCTTGGGAAAGTCATCATCCAATGGAAT
GGCCCAGAGAGCAACAGTGGGGAGCGCCTGAAGGCTATGCTTCTGGCAAAGGATATTCGAGACAGGGAGCGAGGGGGCCGTGCTAAAATAGGAGTGATCGAGGGA
GACAAGGAGGCAGCCAGCCCAGAGCTGATGAAGGTCCTTCAGGACACCCTTGGCCGACGCTCCATTATCAAGCCTACAGTCCCTGATGAGATCATAGATCAGAAG
CAGAAATCAACTATCATGTTGTATCATATCTCAGATTCAGCTGGGCAGCTGGCAGTCACAGAGGTAGCAACAAGGCCTCTGGTCCAGGACTTACTGAACCATGAT
GACTGCTACATCCTGGACCAAAGTGGAACCAAAATCTACGTGTGGAAAGGAAAAGGAGCCACAAAGGCTGAAAAACAGGCAGCCATGTCTAAAGCGCTGGGCTTC
ATCAAGATGAAGAGCTACCCCAGCAGCACCAATGTGGAGACCGTCAACGATGGTGCTGAGTCGGCCATGTTCAAGCAGCTGTTCCAGAAGTGGTCAGTAAAGGAC
CAGACCATGGGCCTGGGGAAAACGTTCAGCATTGGTAAAATTGCTAAAGTTTTCCAGGATAAATTTGATGTGACTCTGCTACACACCAAGCCAGAGGTAGCTGCC
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>AVIL|10677|protein
MPLTSAFRAVDNDPGIIVWRIEKMELALVPVSAHGNFYEGDCYVILSTRRVASLLSQDIHFWIGKDSSQDEQSCAAIYTTQLDDYLGGSPVQHREVQYHESDTFR
GYFKQGIIYKQGGVASGMKHVETNTYDVKRLLHVKGKRNIRATEVEMSWDSFNRGDVFLLDLGKVIIQWNGPESNSGERLKAMLLAKDIRDRERGGRAKIGVIEG
DKEAASPELMKVLQDTLGRRSIIKPTVPDEIIDQKQKSTIMLYHISDSAGQLAVTEVATRPLVQDLLNHDDCYILDQSGTKIYVWKGKGATKAEKQAAMSKALGF
IKMKSYPSSTNVETVNDGAESAMFKQLFQKWSVKDQTMGLGKTFSIGKIAKVFQDKFDVTLLHTKPEVAAQERMVDDGNGKVEVWRIENLELVPVEYQWYGFFYG
GDCYLVLYTYEVNGKPHHILYIWQGRHASQDELAASAYQAVEVDRQFDGAAVQVRVRMGTEPRHFMAIFKGKLVIFEGGTSRKGNAEPDPPVRLFQIHGNDKSNT
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (4)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top