AutismKB 2.0

Evidence Details for SUPT3H


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Basic Information Top
Gene Symbol:SUPT3H ( SPT3,SPT3L )
Gene Full Name: suppressor of Ty 3 homolog (S. cerevisiae)
Band: 6p21.1
Quick LinksEntrez ID:8464; OMIM: 602947; Uniprot ID:SUPT3_HUMAN; ENSEMBL ID: ENSG00000196284; HGNC ID: 11466
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SUPT3H|8464|nucleotide
ATGAATAATACGGCAGCTAGTCCAATGTCTACTGCAACTTCAAGTAGTGGAAGGAGTACAGGGAAGTCTATAAGCTTTGCAACAGAATTACAGAGTATGATGTAT
TCTTTAGGTGATGCTAGAAGGCCTCTTCATGAAACAGCAGTTTTGGTAGAAGATGTGGTACACACTCAGTTAATTAATCTGTTACAGCAAGCTGCTGAAGTTTCT
CAGCTGCGGGGAGCAAGGGTAATCACTCCTGAAGATCTTCTGTTTTTGATGCGCAAAGATAAGAAAAAACTTAGAAGACTGCTAAAATACATGTTTATCCGAGAC
TACAAATCAAAGATTGTCAAAGGCATCGATGAGGATGATCTTCTCGAAGACAAATTGAGTGGCAGCAATAATGCGAACAAAAGACAAAAGATTGCTCAGGACTTC
CTCAACTCTATTGACCAGACAGGAGAACTTTTAGCAATGTTTGAAGATGACGAAATTGATGAAGTTAAACAAGAAAGAATGGAGAGAGCAGAAAGACAAACTCGA
ATTATGGATTCAGCTCAATATGCAGAATTCTGTGAAAGTCGACAATTAAGTTTCTCCAAAAAAGCTTCCAAATTTCGAGACTGGTTGGACTGCAGCAGTATGGAG
ATAAAACCCAATGTTGTCGCAATGGAAATCTTAGCATATTTAGCGTATGAAACTGTGGCACAGTTAGTGGATCTGGCTCTTCTTGTGAGGCAAGACATGGTAACC
AAGGCAGGGGACCCCTTCAGCCATGCCATTTCTGCAACCTTCATTCAGTATCACAACTCTGCTGAGAGCACTGCAGCCTGTGGTGTTGAGGCTCACAGCGATGCC
ATCCAGCCCTGCCACATCAGAGAGGCCATTCGACGCTACAGCCACAGGATTGGCCCACTTTCCCCATTCACAAATGCCTACCGCAGGAATGGGATGGCTTTTCTA
GCCTGCTGA

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>SUPT3H|8464|protein
MNNTAASPMSTATSSSGRSTGKSISFATELQSMMYSLGDARRPLHETAVLVEDVVHTQLINLLQQAAEVSQLRGARVITPEDLLFLMRKDKKKLRRLLKYMFIRD
YKSKIVKGIDEDDLLEDKLSGSNNANKRQKIAQDFLNSIDQTGELLAMFEDDEIDEVKQERMERAERQTRIMDSAQYAEFCESRQLSFSKKASKFRDWLDCSSME
IKPNVVAMEILAYLAYETVAQLVDLALLVRQDMVTKAGDPFSHAISATFIQYHNSAESTAACGVEAHSDAIQPCHIREAIRRYSHRIGPLSPFTNAYRRNGMAFL
AC

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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) 0 (2) 0 (0) 0 (0) 0 (0) 2 (4)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top