AutismKB 2.0

Evidence Details for SUPT16H


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Basic Information Top
Gene Symbol:SUPT16H ( CDC68,FACTP140,FLJ10857,FLJ14010,FLJ34357,SPT16/CDC68 )
Gene Full Name: suppressor of Ty 16 homolog (S. cerevisiae)
Band: 14q11.2
Quick LinksEntrez ID:11198; OMIM: 605012; Uniprot ID:SP16H_HUMAN; ENSEMBL ID: ENSG00000092201; HGNC ID: 11465
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SUPT16H|11198|nucleotide
ATGGCTGTGACTCTGGACAAAGACGCTTATTATCGGCGAGTGAAGAGACTGTACAGCAATTGGCGGAAAGGAGAAGATGAGTATGCCAACGTTGATGCCATTGTT
GTATCAGTGGGTGTTGATGAAGAAATTGTTTATGCCAAATCAACTGCCTTACAGACATGGCTCTTTGGTTATGAACTAACTGATACTATCATGGTCTTTTGTGAT
GACAAAATCATCTTTATGGCCAGCAAGAAAAAAGTGGAGTTCTTGAAACAGATTGCCAACACTAAGGGCAATGAGAATGCTAATGGAGCCCCTGCCATCACACTG
CTAATACGAGAAAAGAATGAAAGTAATAAGAGTAGCTTTGACAAAATGATTGAAGCCATTAAAGAAAGCAAGAATGGCAAGAAGATTGGAGTGTTCAGCAAAGAC
AAATTCCCTGGAGAGTTCATGAAGAGCTGGAATGACTGCCTCAACAAAGAAGGCTTTGACAAAATAGATATCAGTGCAGTTGTGGCATATACCATCGCTGTAAAG
GAGGATGGGGAGCTCAACCTAATGAAGAAAGCAGCCAGCATCACTTCTGAAGTCTTCAACAAATTCTTCAAGGAAAGAGTCATGGAAATAGTTGATGCAGATGAG
AAAGTTCGACACAGCAAACTGGCTGAGTCTGTGGAAAAGGCCATTGAAGAGAAAAAATACCTTGCTGGGGCAGACCCTTCTACTGTGGAAATGTGTTACCCTCCT
ATCATTCAGAGTGGTGGCAACTATAATCTCAAGTTCAGTGTGGTGAGTGACAAGAATCATATGCACTTTGGGGCTATCACTTGTGCCATGGGTATTCGCTTCAAG
TCTTACTGCTCCAACCTTGTTCGCACTTTGATGGTTGATCCTTCTCAAGAAGTTCAAGAAAATTATAACTTTTTGCTCCAGCTTCAAGAGGAGCTGCTGAAGGAA
TTAAGACATGGTGTGAAGATATGTGACGTGTATAACGCTGTCATGGACGTGGTTAAAAAGCAGAAGCCAGAACTGCTGAACAAAATTACCAAAAACCTAGGGTTT
GGGATGGGAATTGAATTCCGTGAAGGCTCCCTAGTAATCAATAGCAAAAATCAATACAAACTGAAGAAAGGAATGGTTTTCAGCATCAATTTAGGATTCTCAGAC
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>SUPT16H|11198|protein
MAVTLDKDAYYRRVKRLYSNWRKGEDEYANVDAIVVSVGVDEEIVYAKSTALQTWLFGYELTDTIMVFCDDKIIFMASKKKVEFLKQIANTKGNENANGAPAITL
LIREKNESNKSSFDKMIEAIKESKNGKKIGVFSKDKFPGEFMKSWNDCLNKEGFDKIDISAVVAYTIAVKEDGELNLMKKAASITSEVFNKFFKERVMEIVDADE
KVRHSKLAESVEKAIEEKKYLAGADPSTVEMCYPPIIQSGGNYNLKFSVVSDKNHMHFGAITCAMGIRFKSYCSNLVRTLMVDPSQEVQENYNFLLQLQEELLKE
LRHGVKICDVYNAVMDVVKKQKPELLNKITKNLGFGMGIEFREGSLVINSKNQYKLKKGMVFSINLGFSDLTNKEGKKPEEKTYALFIGDTVLVDEDGPATVLTS
VKKKVKNVGIFLKNEDEEEEEEEKDEAEDLLGRGSRAALLTERTRNEMTAEEKRRAHQKELAAQLNEEAKRRLTEQKGEQQIQKARKSNVSYKNPSLMPKEPHIR
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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) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Prontera P, 2014 - aCGHASD - - - - 1 - 1
Pinto AM, 2015 - aCGH--autism - - - - 2 - 2
Linkage Studies Top