AutismKB 2.0

Evidence Details for TAF5


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Basic Information Top
Gene Symbol:TAF5 ( TAF2D,TAFII100 )
Gene Full Name: TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa
Band: 10q24.33
Quick LinksEntrez ID:6877; OMIM: 601787; Uniprot ID:TAF5_HUMAN; ENSEMBL ID: ENSG00000148835; HGNC ID: 11539
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TAF5|6877|nucleotide
ATGGCGGCGCTGGCGGAGGAGCAGACGGAGGTGGCGGTCAAGCTAGAGCCTGAGGGACCGCCAACGCTGCTACCTCCGCAGGCGGGGGACGGCGCAGGCGAGGGT
AGCGGCGGCACTACCAACAACGGCCCCAACGGCGGCGGCGGGAACGTTGCGGCGTCGTCGTCCACTGGCGGGGATGGCGGGACCCCCAAGCCCACGGTGGCTGTC
TCCGCCGCTGCCCCGGCGGGGGCGGCCCCGGTGCCCGCCGCTGCTCCGGACGCCGGCGCTCCGCATGACCGACAGACTCTACTGGCCGTGCTGCAGTTCCTACGG
CAGAGCAAACTCCGCGAGGCCGAAGAGGCGCTGCGCCGTGAGGCCGGGCTGCTGGAGGAGGCAGTGGCGGGCTCCGGAGCCCCGGGAGAGGTGGACAGCGCCGGC
GCTGAGGTGACCAGCGCGCTTCTCAGCCGGGTGACCGCCTCGGCCCCTGGCCCTGCGGCCCCCGACCCTCCGGGCACTGGCGCTTCGGGGGCCACGGTCGTCTCA
GGTTCAGCCTCAGGTCCTGCGGCTCCGGGTAAAGTTGGAAGTGTTGCTGTGGAAGACCAGCCAGATGTCAGTGCCGTGTTGTCAGCCTACAACCAACAAGGAGAT
CCCACAATGTATGAAGAATACTATAGTGGACTGAAACACTTCATTGAATGTTCCCTGGACTGCCATCGGGCAGAGTTGTCCCAACTTTTTTATCCTCTGTTTGTG
CACATGTACTTGGAGCTAGTCTACAATCAACATGAGAATGAAGCAAAGTCATTCTTTGAGAAGTTCCATGGAGATCAGGAATGTTATTACCAGGATGACCTACGA
GTATTATCTAGTCTTACCAAAAAGGAACACATGAAAGGGAATGAGACCATGTTGGATTTTCGAACAAGTAAATTTGTTCTGCGTATTTCCCGTGACTCGTACCAA
CTCTTGAAGAGGCATCTTCAGGAGAAACAGAACAATCAGATATGGAACATAGTTCAGGAGCACCTCTACATTGACATCTTTGATGGGATGCCGCGTAGTAAGCAA
CAGATAGATGCGATGGTGGGAAGTTTGGCAGGAGAGGCTAAACGAGAGGCAAACAAATCAAAGGTATTTTTTGGTTTATTAAAAGAACCAGAAATTGAGGTACCT
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>TAF5|6877|protein
MAALAEEQTEVAVKLEPEGPPTLLPPQAGDGAGEGSGGTTNNGPNGGGGNVAASSSTGGDGGTPKPTVAVSAAAPAGAAPVPAAAPDAGAPHDRQTLLAVLQFLR
QSKLREAEEALRREAGLLEEAVAGSGAPGEVDSAGAEVTSALLSRVTASAPGPAAPDPPGTGASGATVVSGSASGPAAPGKVGSVAVEDQPDVSAVLSAYNQQGD
PTMYEEYYSGLKHFIECSLDCHRAELSQLFYPLFVHMYLELVYNQHENEAKSFFEKFHGDQECYYQDDLRVLSSLTKKEHMKGNETMLDFRTSKFVLRISRDSYQ
LLKRHLQEKQNNQIWNIVQEHLYIDIFDGMPRSKQQIDAMVGSLAGEAKREANKSKVFFGLLKEPEIEVPLDDEDEEGENEEGKPKKKKPKKDSIGSKSKKQDPN
APPQNRIPLPELKDSDKLDKIMNMKETTKRVRLGPDCLPSICFYTFLNAYQGLTAVDVTDDSSLIAGGFADSTVRVWSVTPKKLRSVKQASDLSLIDKESDDVLE
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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
Yuen RK, 2016 200 - 301 Genome-wide characteristics of de novo mutations in autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (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