AutismKB 2.0

Evidence Details for SETD1A


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Basic Information Top
Gene Symbol:SETD1A ( KIAA0339,KMT2F,Set1,Set1A )
Gene Full Name: SET domain containing 1A
Band: 16p11.2
Quick LinksEntrez ID:9739; OMIM: 611052; Uniprot ID:SET1A_HUMAN; ENSEMBL ID: ENSG00000099381; HGNC ID: 29010
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SETD1A|9739|nucleotide
ATGGATCAGGAAGGTGGGGGAGATGGGCAGAAGGCCCCGAGCTTCCAGTGGCGGAACTACAAGCTCATCGTGGATCCTGCCTTGGACCCTGCCCTGCGCAGGCCT
TCTCAGAAGGTGTACCGCTATGATGGAGTCCACTTCAGTGTCAACGACTCAAAGTATATACCAGTCGAAGACCTCCAAGACCCCCGTTGCCATGTCAGGTCCAAA
AACAGAGACTTTTCCCTCCCAGTCCCTAAGTTTAAGCTGGACGAGTTCTATATTGGACAGATTCCACTGAAGGAAGTGACTTTTGCAAGGCTGAATGACAACGTG
CGGGAGACCTTCCTGAAGGATATGTGCCGTAAGTACGGTGAGGTGGAAGAGGTAGAGATCCTCCTTCACCCCCGTACGCGCAAGCACCTGGGCCTGGCCCGTGTG
CTCTTCACCAGCACTCGGGGCGCCAAGGAAACGGTCAAAAACCTCCACCTTACCTCCGTCATGGGCAACATCATCCATGCCCAGCTTGACATCAAAGGACAACAA
CGAATGAAATACTATGAACTAATTGTCAATGGCTCCTACACCCCTCAGACTGTGCCCACTGGGGGCAAGGCCCTGAGTGAGAAGTTCCAAGGCTCGGGTGCAGCC
ACTGAGACGGCCGAATCCCGCCGCCGCTCTTCCTCTGACACAGCTGCCTACCCAGCAGGCACCACTGCGGTGGGCACTCCTGGCAACGGCACCCCCTGCTCCCAG
GACACAAGCTTCTCCAGCAGCCGACAAGATACCCCATCTTCCTTTGGCCAGTTCACACCTCAGTCCTCCCAAGGAACCCCCTACACGTCTCGGGGCAGCACCCCC
TACTCTCAGGACTCTGCCTACTCCAGCAGCACCACTTCAACCTCCTTCAAGCCCCGGCGGTCAGAGAACAGCTACCAAGATGCCTTTTCCCGCCGCCACTTCTCT
GCATCTTCAGCCTCCACAACCGCCTCCACGGCCATCGCCGCCACCACTGCAGCCACTGCCTCATCCTCCGCCTCTTCCTCCTCATTGTCCTCGTCCTCCTCGTCA
TCCTCTTCCTCCTCGTCCTCTCAGTTTCGTAGTTCTGATGCAAACTACCCAGCGTATTATGAAAGCTGGAATCGCTACCAGCGCCATACTTCCTACCCACCACGC
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>SETD1A|9739|protein
MDQEGGGDGQKAPSFQWRNYKLIVDPALDPALRRPSQKVYRYDGVHFSVNDSKYIPVEDLQDPRCHVRSKNRDFSLPVPKFKLDEFYIGQIPLKEVTFARLNDNV
RETFLKDMCRKYGEVEEVEILLHPRTRKHLGLARVLFTSTRGAKETVKNLHLTSVMGNIIHAQLDIKGQQRMKYYELIVNGSYTPQTVPTGGKALSEKFQGSGAA
TETAESRRRSSSDTAAYPAGTTAVGTPGNGTPCSQDTSFSSSRQDTPSSFGQFTPQSSQGTPYTSRGSTPYSQDSAYSSSTTSTSFKPRRSENSYQDAFSRRHFS
ASSASTTASTAIAATTAATASSSASSSSLSSSSSSSSSSSSSQFRSSDANYPAYYESWNRYQRHTSYPPRRATREEPPGAPFAENTAERFPPSYTSYLPPEPSRP
TDQDYRPPASEAPPPEPPEPGGGGGGGGPSPEREEVRTSPRPASPARSGSPAPETTNESVPFAQHSSLDSRIEMLLKEQRSKFSFLASDTEEEEENSSMVLGARD
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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) 2 (4) 0 (0) 0 (0) 1 (1) 0 (2) 0 (0) 0 (0) 0 (0) 5 (7)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.00971 Up 64.1793
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1714327
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018