AutismKB 2.0

Evidence Details for HEG1


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Basic Information Top
Gene Symbol:HEG1 ( HEG,KIAA1237,MGC72175,MST112,MSTP112 )
Gene Full Name: HEG homolog 1 (zebrafish)
Band: 3q21.2
Quick LinksEntrez ID:57493; OMIM: NA; Uniprot ID:HEG1_HUMAN; ENSEMBL ID: ENSG00000173706; HGNC ID: 29227
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HEG1|57493|nucleotide
ATGGCCTCGCCGCGCGCCTCGCGGTGGCCGCCGCCGCTCCTGCTGCTGTTGCTGCCGCTGCTGCTGCTGCCGCCGGCGGCCCCCGGGACGCGGGACCCGCCGCCT
TCCCCGGCTCGCCGCGCGCTGAGCCTGGCGCCCCTCGCGGGAGCGGGGCTGGAGCTGCAGCTGGAGCGCCGCCCGGAGCGCGAGCCGCCGCCCACGCCGCCCCGG
GAGCGCCGCGGGCCCGCGACCCCCGGCCCCAGCTACAGGGCCCCTGAGCCAGGCGCCGCGACACAGCGGGGACCCTCCGGCCGGGCCCCCAGAGGCGGGAGCGCG
GATGCTGCCTGGAAACATTGGCCAGAAAGTAACACTGAGGCCCATGTAGAAAACATCACCTTCTATCAGAATCAAGAGGACTTTTCAACAGTGTCCTCCAAAGAG
GGCGTGATGGTTCAGACCTCTGGGAAGAGCCATGCTGCTTCGGATGCTCCAGAAAACCTCACTCTACTCGCTGAAACAGCAGATGCTAGAGGAAGGAGCGGCTCT
TCAAGTAGAACAAACTTCACCATTTTGCCTGTTGGGTACTCACTGGAGATAGCAACAGCTCTGACTTCCCAGAGTGGCAACTTAGCCTCAGAAAGTCTTCACCTG
CCATCCAGCAGTTCAGAGTTCGATGAAAGAATTGCCGCTTTTCAAACAAAGAGTGGAACAGCCTCGGAGATGGGAACAGAGAGGGCGATGGGGCTGTCAGAAGAA
TGGACTGTGCACAGCCAAGAGGCCACCACTTCGGCTTGGAGCCCGTCCTTTCTTCCTGCTTTGGAGATGGGAGAGCTGACCACGCCTTCTAGGAAGAGAAATTCC
TCAGGACCAGATCTCTCCTGGCTGCATTTCTACAGGACAGCAGCTTCCTCTCCTCTCTTAGACCTTTCCTCATCTTCTGAAAGTACAGAGAAGCTTAACAACTCC
ACTGGCCTCCAGAGCTCCTCAGTCAGTCAAACAAAGACAATGCATGTTGCCACCGTGTTCACTGATGGTGGCCCGAGAACGCTGCGATCTTTGACGGTCAGTCTG
GGACCTGTGAGCAAGACAGAAGGCTTCCCCAAGGACTCCAGAATTGCCACGACTTCATCCTCAGTCCTTCTTTCACCCTCTGCAGTGGAATCGAGAAGAAACAGT
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>HEG1|57493|protein
MASPRASRWPPPLLLLLLPLLLLPPAAPGTRDPPPSPARRALSLAPLAGAGLELQLERRPEREPPPTPPRERRGPATPGPSYRAPEPGAATQRGPSGRAPRGGSA
DAAWKHWPESNTEAHVENITFYQNQEDFSTVSSKEGVMVQTSGKSHAASDAPENLTLLAETADARGRSGSSSRTNFTILPVGYSLEIATALTSQSGNLASESLHL
PSSSSEFDERIAAFQTKSGTASEMGTERAMGLSEEWTVHSQEATTSAWSPSFLPALEMGELTTPSRKRNSSGPDLSWLHFYRTAASSPLLDLSSSSESTEKLNNS
TGLQSSSVSQTKTMHVATVFTDGGPRTLRSLTVSLGPVSKTEGFPKDSRIATTSSSVLLSPSAVESRRNSRVTGNPGDEEFIEPSTENEFGLTSLRWQNDSPTFG
EHQLASSSEVQNGSPMSQTETVSRSVAPMRGGEITAHWLLTNSTTSADVTGSSASYPEGVNASVLTQFSDSTVQSGGSHTALGDRSYSESSSTSSSESLNSSAPR
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top