AutismKB 2.0

Evidence Details for BHLHE22


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Basic Information Top
Gene Symbol:BHLHE22 ( BHLHB5,Beta3,CAGL85,TNRC20 )
Gene Full Name: basic helix-loop-helix family, member e22
Band: 8q12.3
Quick LinksEntrez ID:27319; OMIM: 613483; Uniprot ID:BHE22_HUMAN; ENSEMBL ID: ENSG00000180828; HGNC ID: 11963
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BHLHE22|27319|nucleotide
ATGGAGCGCGGGATGCACCTCGGTGCAGCGGCCGCCGGCGAGGACGACCTCTTCCTGCACAAGAGCCTGAGCGCCTCCACCTCCAAGCGCTTGGAAGCGGCTTTC
CGCTCCACGCCCCCGGGCATGGACCTGTCCCTGGCGCCGCCGCCTCGGGAACGCCCGGCGTCCTCCTCCTCGTCGCCCCTGGGCTGCTTCGAGCCGGCTGACCCC
GAGGGGGCAGGGCTGCTGTTGCCGCCGCCTGGAGGAGGCGGCGGCGGCAGCGCGGGAAGTGGCGGCGGCGGCGGCGGCGGGGTGGGTGTCCCCGGGCTGCTAGTA
GGTTCAGCCGGCGTTGGGGGCGACCCTAGCCTAAGCAGCCTGCCGGCCGGGGCCGCCCTTTGCCTCAAGTACGGCGAAAGCGCGAGCCGGGGCTCGGTGGCCGAG
AGCAGCGGCGGCGAGCAGAGCCCCGACGACGACAGCGACGGTCGCTGCGAGCTCGTGCTGCGGGCCGGAGTAGCCGACCCGCGGGCCTCCCCGGGAGCGGGAGGT
GGTGGCGCGAAGGCAGCCGAGGGCTGCTCCAATGCCCACCTCCACGGCGGCGCCAGCGTCCCCCCGGGGGGCCTGGGCGGCGGCGGCGGCGGGGGTAGCAGCAGC
GGTAGCAGTGGCGGCGGTGGCGGTAGCGGTAGCGGCAGCGGCGGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGAAATCCAAAGAGCAAAAGGCGCTGCGGCTT
AACATCAATGCCCGAGAGCGCCGGCGGATGCACGACCTGAACGACGCGCTGGACGAGCTGCGCGCGGTGATCCCCTACGCGCACAGCCCCTCGGTGCGAAAGCTC
TCCAAGATCGCCACGCTGCTGCTCGCCAAGAACTACATCCTCATGCAGGCGCAGGCCCTGGAGGAGATGCGGCGCCTAGTCGCCTACCTCAACCAGGGCCAGGCC
ATCTCGGCTGCCTCCCTGCCCAGCTCGGCGGCTGCAGCGGCAGCAGCTGCTGCCCTGCACCCGGCGCTCGGCGCCTACGAGCAGGCAGCCGGCTACCCGTTCAGC
GCCGGACTGCCCCCGGCTGCCTCCTGCCCGGAGAAGTGCGCCCTGTTTAACAGCGTCTCCTCCAGCCTCTGCAAACAGTGCACGGAGAAGCCTTAA
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>BHLHE22|27319|protein
MERGMHLGAAAAGEDDLFLHKSLSASTSKRLEAAFRSTPPGMDLSLAPPPRERPASSSSSPLGCFEPADPEGAGLLLPPPGGGGGGSAGSGGGGGGGVGVPGLLV
GSAGVGGDPSLSSLPAGAALCLKYGESASRGSVAESSGGEQSPDDDSDGRCELVLRAGVADPRASPGAGGGGAKAAEGCSNAHLHGGASVPPGGLGGGGGGGSSS
GSSGGGGGSGSGSGGSSSSSSSSSKKSKEQKALRLNINARERRRMHDLNDALDELRAVIPYAHSPSVRKLSKIATLLLAKNYILMQAQALEEMRRLVAYLNQGQA
ISAASLPSSAAAAAAAAALHPALGAYEQAAGYPFSAGLPPAASCPEKCALFNSVSSSLCKQCTEKP

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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 (2) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top