AutismKB 2.0

Evidence Details for SETD5


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Basic Information Top
Gene Symbol:SETD5 ( DKFZp686J18276,FLJ10707,KIAA1757 )
Gene Full Name: SET domain containing 5
Band: 3p25.3
Quick LinksEntrez ID:55209; OMIM: NA; Uniprot ID:SETD5_HUMAN; ENSEMBL ID: ENSG00000168137; HGNC ID: 25566
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SETD5|55209|nucleotide
ATGAGCATTGCAATCCCTCTGGGAGTCACCACATCAGATACATCCTACTCAGATATGGCTGCTGGATCAGACCCTGAATCTGTGGAGGCTAGTCCAGCAGTTAAT
GAGAAGAGCGTGTATTCCACTCATAATTATGGGACCACTCAGAGGCATGGGTGTCGAGGACTGCCTTATGCTACGATCATCCCTCGTTCTGACCTGAATGGCCTG
CCGTCGCCTGTAGAGGAACGCTGTGGAGACAGCCCGAACTCTGAAGGAGAAACTGTACCTACCTGGTGTCCTTGTGGTCTTTCTCAGGATGGCTTCCTTCTCAAC
TGTGACAAGTGCAGGGGAATGAGCAGGGGGAAGGTTATTAGACTTCATCGGCGGAAGCAGGACAACATATCAGGTGGGGATAGCAGTGCAACAGAAAGCTGGGAT
GAGGAGCTTTCTCCTTCCACTGTGTTGTATACAGCAACACAGCACACACCTACAAGCATCACCTTAACTGTTAGAAGAACCAAACCCAAGAAGCGGAAAAAGAGT
CCAGAAAAGGGTCGTGCAGCACCAAAGACGAAGAAAATCAAGAATTCTCCCTCTGAAGCACAGAATTTAGATGAGAATACAACTGAGGGCTGGGAAAATCGGATA
AGACTATGGACTGACCAGTATGAAGAAGCTTTCACTAATCAGTACAGTGCAGATGTACAGAACGCGCTTGAACAACACCTACATTCTAGCAAGGAATTTGTGGGC
AAACCTACTATTTTAGACACTATTAATAAGACTGAATTGGCCTGTAATAACACAGTTATTGGTTCCCAAATGCAGTTACAGCTGGGAAGAGTCACTCGTGTTCAA
AAGCACCGGAAGATCCTGAGGGCTGCAAGAGATTTGGCTTTGGACACTCTTATAATAGAGTATCGTGGGAAAGTCATGTTACGACAGCAATTTGAGGTCAATGGG
CATTTCTTCAAAAAACCATACCCCTTTGTGCTCTTCTACTCAAAATTCAATGGTGTAGAGATGTGTGTGGATGCCCGTACTTTCGGTAATGATGCTCGGTTCATC
AGAAGATCATGTACACCAAATGCAGAGGTGCGACACATGATTGCAGATGGGATGATTCACCTGTGCATCTATGCTGTGTCTGCCATCACCAAGGATGCTGAGGTC
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>SETD5|55209|protein
MSIAIPLGVTTSDTSYSDMAAGSDPESVEASPAVNEKSVYSTHNYGTTQRHGCRGLPYATIIPRSDLNGLPSPVEERCGDSPNSEGETVPTWCPCGLSQDGFLLN
CDKCRGMSRGKVIRLHRRKQDNISGGDSSATESWDEELSPSTVLYTATQHTPTSITLTVRRTKPKKRKKSPEKGRAAPKTKKIKNSPSEAQNLDENTTEGWENRI
RLWTDQYEEAFTNQYSADVQNALEQHLHSSKEFVGKPTILDTINKTELACNNTVIGSQMQLQLGRVTRVQKHRKILRAARDLALDTLIIEYRGKVMLRQQFEVNG
HFFKKPYPFVLFYSKFNGVEMCVDARTFGNDARFIRRSCTPNAEVRHMIADGMIHLCIYAVSAITKDAEVTIAFDYEYSNCNYKVDCACHKGNRNCPIQKRNPNA
TELPLLPPPPSLPTIGAETRRRKARRKELEMEQQNEASEENNDQQSQEVPEKVTVSSDHEEVDNPEEKPEEEKEEVIDDQENLAHSRRTREDRKVEAIMHAFENL
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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) 1 (3) 0 (0) 0 (0) 2 (6) 0 (0) 0 (0) 0 (0) 22 (10)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Shao, 2002 USA microsatellite-based genomic screenautism 52 - 52 - 112 - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
O'Roak BJ, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
Stessman HA, 2017 6342 - 74 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development
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