AutismKB 2.0

Evidence Details for HEY2


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Basic Information Top
Gene Symbol:HEY2 ( CHF1,GRIDLOCK,GRL,HERP1,HESR2,HRT2,MGC10720,bHLHb32 )
Gene Full Name: hairy/enhancer-of-split related with YRPW motif 2
Band: 6q22.31
Quick LinksEntrez ID:23493; OMIM: 604674; Uniprot ID:HEY2_HUMAN; ENSEMBL ID: ENSG00000135547; HGNC ID: 4881
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HEY2|23493|nucleotide
ATGAAGCGCCCCTGCGAGGAGACGACCTCCGAGAGCGACATGGACGAGACCATCGACGTGGGGAGCGAGAACAATTACTCGGGGCAAAGTACTAGCTCTGTGATT
AGATTGAATTCTCCAACAACAACATCTCAGATTATGGCAAGAAAGAAAAGGAGAGGGATTATAGAGAAAAGGCGTCGGGATCGGATAAATAACAGTTTATCTGAG
TTGAGAAGACTTGTGCCAACTGCTTTTGAAAAACAAGGATCTGCAAAGTTAGAAAAAGCTGAAATATTGCAAATGACAGTGGATCATTTGAAGATGCTTCAGGCA
ACAGGGGGTAAAGGCTACTTTGACGCACACGCTCTTGCCATGGACTTCATGAGCATAGGATTCCGAGAGTGCCTAACAGAAGTTGCGCGGTACCTGAGCTCCGTG
GAAGGCCTGGACTCCTCGGATCCGCTGCGGGTGCGGCTTGTGTCTCATCTCAGCACTTGCGCCACCCAGCGGGAGGCGGCGGCCATGACATCCTCCATGGCCCAC
CACCATCATCCGCTCCACCCGCATCACTGGGCCGCCGCCTTCCACCACCTGCCCGCAGCCCTGCTCCAGCCCAACGGCCTCCATGCCTCAGAGTCAACCCCTTGT
CGCCTCTCCACAACTTCAGAAGTGCCTCCTGCCCACGGCTCTGCTCTCCTCACGGCCACGTTTGCCCATGCGGATTCAGCCCTCCGAATGCCATCCACGGGCAGC
GTCGCCCCCTGCGTGCCACCTCTCTCCACCTCTCTCTTGTCCCTCTCTGCCACCGTCCACGCCGCAGCCGCAGCAGCCACCGCGGCTGCACACAGCTTCCCTCTG
TCCTTCGCGGGGGCATTCCCCATGCTTCCCCCAAACGCAGCAGCAGCAGTGGCCGCGGCCACAGCCATCAGCCCGCCCTTGTCAGTATCAGCCACGTCCAGTCCT
CAGCAGACCAGCAGTGGAACAAACAATAAACCTTACCGACCCTGGGGGACAGAAGTTGGAGCTTTTTAA

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>HEY2|23493|protein
MKRPCEETTSESDMDETIDVGSENNYSGQSTSSVIRLNSPTTTSQIMARKKRRGIIEKRRRDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQA
TGGKGYFDAHALAMDFMSIGFRECLTEVARYLSSVEGLDSSDPLRVRLVSHLSTCATQREAAAMTSSMAHHHHPLHPHHWAAAFHHLPAALLQPNGLHASESTPC
RLSTTSEVPPAHGSALLTATFAHADSALRMPSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAFPMLPPNAAAAVAAATAISPPLSVSATSSP
QQTSSGTNNKPYRPWGTEVGAF

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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 (0) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top