AutismKB 2.0

Evidence Details for HECTD1


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Basic Information Top
Gene Symbol:HECTD1 ( FLJ38315,KIAA1131 )
Gene Full Name: HECT domain containing 1
Band: 14q12
Quick LinksEntrez ID:25831; OMIM: NA; Uniprot ID:HECD1_HUMAN; ENSEMBL ID: ENSG00000092148; HGNC ID: 20157
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HECTD1|25831|nucleotide
ATGGCAGATGTGGACCCAGATACATTGCTGGAATGGCTACAGATGGGACAGGGAGATGAAAGGGACATGCAACTAATAGCCCTTGAACAGCTATGCATGCTGCTT
TTGATGTCTGACAACGTGGATCGTTGTTTTGAAACATGTCCTCCTCGCACTTTCTTACCAGCCCTTTGCAAAATTTTTCTTGATGAAAGTGCTCCAGACAATGTA
TTAGAGGTGACAGCCCGTGCCATAACATACTACCTGGATGTATCTGCGGAATGTACCCGAAGGATTGTTGGGGTAGATGGAGCTATAAAAGCACTTTGTAATCGT
TTGGTTGTAGTTGAACTTAACAACAGGACTAGCAGAGACTTAGCCGAACAGTGTGTAAAGGTATTAGAACTGATATGTACTCGTGAGTCAGGAGCAGTCTTTGAG
GCTGGTGGTTTGAATTGTGTGCTTACCTTCATTCGTGACAGTGGACATCTAGTTCATAAAGACACCTTGCACTCTGCTATGGCTGTGGTATCAAGACTCTGTGGC
AAAATGGAGCCTCAAGATTCTTCTTTAGAAATTTGTGTAGAATCTCTGTCTAGTTTATTAAAGCATGAAGATCATCAGGTTTCAGATGGAGCTCTGCGATGCTTT
GCATCACTGGCTGACCGATTTACCCGTCGTGGTGTTGACCCAGCTCCATTAGCCAAGCATGGATTAACTGAGGAGCTGTTATCTCGAATGGCTGCTGCTGGTGGT
ACTGTTTCAGGACCATCATCAGCATGCAAACCAGGTCGCAGCACCACAGGAGCTCCATCCACCACTGCAGATTCCAAATTGAGTAATCAGGTGTCAACAATTGTA
AGTCTGCTCTCAACACTTTGCAGAGGCTCTCCGGTAGTAACACATGATCTTCTGAGGTCGGAGCTTCCAGATTCAATTGAAAGTGCATTGCAGGGTGATGAAAGA
TGTGTGCTTGATACTATGCGTTTGGTTGACCTTCTCTTGGTGCTATTATTTGAAGGACGAAAAGCTTTGCCAAAGTCTAGTGCTGGATCTACAGGCAGAATCCCA
GGACTCCGGAGATTAGATAGTTCTGGGGAGCGCTCACATCGGCAGCTTATAGATTGTATTCGAAGTAAAGATACCGATGCACTTATAGATGCAATTGACACAGGA
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>HECTD1|25831|protein
MADVDPDTLLEWLQMGQGDERDMQLIALEQLCMLLLMSDNVDRCFETCPPRTFLPALCKIFLDESAPDNVLEVTARAITYYLDVSAECTRRIVGVDGAIKALCNR
LVVVELNNRTSRDLAEQCVKVLELICTRESGAVFEAGGLNCVLTFIRDSGHLVHKDTLHSAMAVVSRLCGKMEPQDSSLEICVESLSSLLKHEDHQVSDGALRCF
ASLADRFTRRGVDPAPLAKHGLTEELLSRMAAAGGTVSGPSSACKPGRSTTGAPSTTADSKLSNQVSTIVSLLSTLCRGSPVVTHDLLRSELPDSIESALQGDER
CVLDTMRLVDLLLVLLFEGRKALPKSSAGSTGRIPGLRRLDSSGERSHRQLIDCIRSKDTDALIDAIDTGAFEVNFMDDVGQTLLNWASAFGTQEMVEFLCERGA
DVNRGQRSSSLHYAACFGRPQVAKTLLRHGANPDLRDEDGKTPLDKARERGHSEVVAILQSPGDWMCPVNKGDDKKKKDTNKDEEECNEPKGDPEMAPIYLKRLL
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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 (1) 1 (3) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (6)
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
Soueid J, 2016 Lebanese -autistic 35 33 2 - 41 37 78
Linkage Studies Top