AutismKB 2.0

Evidence Details for ANK3


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Basic Information Top
Gene Symbol:ANK3 ( ANKYRIN-G,FLJ45464 )
Gene Full Name: ankyrin 3, node of Ranvier (ankyrin G)
Band: 10q21.2
Quick LinksEntrez ID:288; OMIM: 600465; Uniprot ID:ANK3_HUMAN; ENSEMBL ID: ENSG00000151150; HGNC ID: 494
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANK3|288|nucleotide
ATGGCTTTACCGCAGAGTGAAGATGCAATGACCGGGGACACAGACAAATATCTTGGGCCACAGGACCTTAAGGAATTGGGTGATGATTCCCTGCCTGCAGAGGGT
TACATGGGCTTTAGTCTCGGAGCGCGTTCTGCCAGCCTCCGCTCCTTCAGTTCGGATAGGTCTTACACCTTGAACAGAAGCTCCTATGCACGGGACAGCATGATG
ATTGAAGAACTCCTTGTGCCATCCAAAGAGCAGCATCTAACATTCACAAGGGAATTTGATTCAGATTCTCTTAGACATTACAGCTGGGCTGCAGACACCTTAGAC
AATGTCAATCTTGTTTCAAGCCCCATTCATTCTGGGTTTCTGGTTAGCTTTATGGTGGACGCGAGAGGGGGCTCCATGAGAGGAAGCCGTCATCACGGGATGAGA
ATCATCATTCCTCCACGCAAGTGTACGGCCCCCACTCGAATCACCTGCCGTTTGGTAAAGAGACATAAACTGGCCAACCCACCCCCCATGGTGGAAGGAGAGGGA
TTAGCCAGTAGGCTGGTAGAAATGGGTCCTGCAGGGGCACAATTTTTAGGCCCTGTCATAGTGGAAATCCCTCACTTTGGGTCCATGAGAGGAAAAGAGAGAGAA
CTCATTGTTCTTCGAAGTGAAAATGGTGAAACTTGGAAGGAGCATCAGTTTGACAGCAAAAATGAAGATTTAACCGAGTTACTTAATGGCATGGATGAAGAACTT
GATAGCCCAGAAGAGTTAGGGAAAAAGCGTATCTGCAGGATTATCACGAAAGATTTCCCCCAGTATTTTGCAGTGGTTTCCCGGATTAAGCAGGAAAGCAACCAG
ATTGGTCCTGAAGGTGGAATTCTGAGCAGCACCACAGTGCCCCTTGTTCAAGCATCTTTCCCAGAGGGTGCCCTAACTAAAAGAATTCGAGTGGGCCTCCAGGCC
CAGCCTGTTCCAGATGAAATTGTGAAAAAGATCCTTGGAAACAAAGCAACTTTTAGCCCAATTGTCACTGTGGAACCAAGAAGACGGAAATTCCATAAACCAATC
ACAATGACCATTCCGGTGCCCCCGCCCTCAGGAGAAGGTGTATCCAATGGATACAAAGGGGACACTACACCCAATCTGCGTCTTCTCTGTAGCATTACAGGGGGC
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>ANK3|288|protein
MALPQSEDAMTGDTDKYLGPQDLKELGDDSLPAEGYMGFSLGARSASLRSFSSDRSYTLNRSSYARDSMMIEELLVPSKEQHLTFTREFDSDSLRHYSWAADTLD
NVNLVSSPIHSGFLVSFMVDARGGSMRGSRHHGMRIIIPPRKCTAPTRITCRLVKRHKLANPPPMVEGEGLASRLVEMGPAGAQFLGPVIVEIPHFGSMRGKERE
LIVLRSENGETWKEHQFDSKNEDLTELLNGMDEELDSPEELGKKRICRIITKDFPQYFAVVSRIKQESNQIGPEGGILSSTTVPLVQASFPEGALTKRIRVGLQA
QPVPDEIVKKILGNKATFSPIVTVEPRRRKFHKPITMTIPVPPPSGEGVSNGYKGDTTPNLRLLCSITGGTSPAQWEDITGTTPLTFIKDCVSFTTNVSARFWLA
DCHQVLETVGLATQLYRELICVPYMAKFVVFAKMNDPVESSLRCFCMTDDKVDKTLEQQENFEEVARSKDIEVLEGKPIYVDCYGNLAPLTKGGQQLVFNFYSFK
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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) 3 (4) 0 (0) 1 (1) 1 (1) 48 (9)
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
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top