AutismKB 2.0

Evidence Details for ANK2


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Basic Information Top
Gene Symbol:ANK2 ( DKFZp686M09125,DKFZp686P0948,FLJ38277,LQT4 )
Gene Full Name: ankyrin 2, neuronal
Band: 4q25-q26
Quick LinksEntrez ID:287; OMIM: 106410; Uniprot ID:ANK2_HUMAN; ENSEMBL ID: ENSG00000145362; HGNC ID: 493
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANK2|287|nucleotide
ATGACCACCATGTTGCAAAAGTCTGACAGCAATGCAAGCTTCCTCCGTGCTGCCAGAGCAGGCAACCTGGACAAAGTTGTGGAATATCTGAAGGGGGGCATAGAC
ATCAATACCTGCAATCAGAATGGACTCAACGCTCTCCATCTGGCTGCCAAGGAAGGCCACGTGGGGCTGGTGCAGGAGCTGCTGGGAAGAGGGTCCTCTGTGGAT
TCTGCCACTAAGAAGGGAAATACCGCTCTTCACATTGCATCTTTGGCTGGACAAGCAGAAGTTGTCAAAGTTCTTGTTAAGGAAGGAGCCAATATTAATGCACAG
TCTCAGAATGGCTTTACTCCTTTATACATGGCTGCCCAAGAGAATCACATTGATGTTGTAAAATATTTGCTGGAAAATGGAGCTAATCAGAGCACTGCTACAGAG
GATGGCTTTACTCCTCTAGCTGTGGCACTCCAGCAAGGACACAACCAGGCGGTGGCCATCCTCTTGGAGAATGACACCAAAGGGAAAGTGAGGCTGCCAGCTCTG
CATATTGCCGCTAGGAAAGACGACACCAAATCTGCCGCACTTCTGCTTCAGAATGACCACAATGCTGACGTACAATCCAAGATGATGGTGAATAGGACAACTGAG
AGTGGTTTTACCCCTTTGCACATAGCTGCACATTACGGAAATGTCAACGTGGCAACTCTTCTTCTAAACCGGGGAGCTGCTGTGGACTTCACAGCCAGGAATGGA
ATCACTCCTCTGCATGTGGCTTCCAAAAGAGGAAATACAAACATGGTGAAGCTCTTACTGGATCGAGGCGGTCAGATCGATGCCAAAACTAGGGATGGGTTGACA
CCACTTCACTGTGCTGCACGAAGTGGGCATGACCAAGTGGTGGAACTTCTGTTGGAACGGGGTGCCCCCTTGCTGGCAAGGACTAAGAATGGGCTGTCTCCACTA
CACATGGCTGCCCAGGGAGACCACGTGGAATGTGTGAAGCACCTGTTACAGCACAAGGCACCTGTTGATGATGTCACCCTAGACTACCTGACAGCCCTCCACGTT
GCTGCGCACTGTGGCCACTACCGTGTAACCAAACTCCTTTTAGACAAGAGAGCCAATCCGAACGCCAGAGCCCTGAATGGTTTTACTCCACTGCACATTGCCTGC
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>ANK2|287|protein
MTTMLQKSDSNASFLRAARAGNLDKVVEYLKGGIDINTCNQNGLNALHLAAKEGHVGLVQELLGRGSSVDSATKKGNTALHIASLAGQAEVVKVLVKEGANINAQ
SQNGFTPLYMAAQENHIDVVKYLLENGANQSTATEDGFTPLAVALQQGHNQAVAILLENDTKGKVRLPALHIAARKDDTKSAALLLQNDHNADVQSKMMVNRTTE
SGFTPLHIAAHYGNVNVATLLLNRGAAVDFTARNGITPLHVASKRGNTNMVKLLLDRGGQIDAKTRDGLTPLHCAARSGHDQVVELLLERGAPLLARTKNGLSPL
HMAAQGDHVECVKHLLQHKAPVDDVTLDYLTALHVAAHCGHYRVTKLLLDKRANPNARALNGFTPLHIACKKNRIKVMELLVKYGASIQAITESGLTPIHVAAFM
GHLNIVLLLLQNGASPDVTNIRGETALHMAARAGQVEVVRCLLRNGALVDARAREEQTPLHIASRLGKTEIVQLLLQHMAHPDAATTNGYTPLHISAREGQVDVA
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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) 1 (2) 0 (0) 0 (0) 0 (0) 3 (7) 0 (0) 0 (2) 0 (0) 32 (11)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
C Yuen RK, 2017 - WGSASD - - - - 1745 - -
Linkage Studies Top