AutismKB 2.0

Evidence Details for TRAF7


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Basic Information Top
Gene Symbol:TRAF7 ( DKFZp586I021,MGC7807,RFWD1,RNF119 )
Gene Full Name: TNF receptor-associated factor 7
Band: 16p13.3
Quick LinksEntrez ID:84231; OMIM: 606692; Uniprot ID:TRAF7_HUMAN; ENSEMBL ID: ENSG00000131653; HGNC ID: 20456
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRAF7|84231|nucleotide
ATGAGCTCAGGCAAGAGTGCCCGCTACAACCGCTTCTCCGGGGGGCCCAGCAATCTTCCCACCCCAGACGTCACCACAGGGACCAGAATGGAAACGACCTTCGGA
CCCGCCTTTTCAGCCGTCACCACCATCACAAAAGCTGACGGGACCAGCACCTACAAGCAGCACTGCAGGACACCCTCCTCCTCCAGCACCCTTGCCTACTCCCCG
CGGGACGAGGAGGACAGCATGCCCCCCATCAGCACTCCCCGCCGCTCCGACTCCGCCATCTCTGTCCGCTCCCTGCACTCAGAGTCCAGCATGTCTCTGCGCTCC
ACATTCTCACTGCCCGAGGAGGAGGAGGAGCCGGAGCCACTGGTGTTTGCGGAGCAGCCCTCGGTGAAGCTGTGCTGTCAGCTCTGCTGCAGCGTCTTCAAAGAC
CCCGTGATCACCACGTGTGGGCACACGTTCTGTAGGAGATGCGCCTTGAAGTCAGAGAAGTGTCCCGTGGACAACGTCAAACTGACCGTGGTGGTGAACAACATC
GCGGTGGCCGAGCAGATCGGGGAGCTCTTCATCCACTGCCGGCACGGCTGCCGGGTAGCGGGCAGCGGGAAGCCCCCCATCTTTGAGGTGGACCCCCGAGGGTGC
CCCTTCACCATCAAGCTCAGCGCCCGGAAGGACCACGAGGGCAGCTGTGACTACAGGCCTGTGCGGTGTCCCAACAACCCCAGCTGCCCCCCGCTGCTCAGGATG
AACCTGGAGGCCCACCTCAAGGAGTGCGAGCACATCAAATGCCCCCACTCCAAGTACGGGTGCACGTTCATCGGGAACCAGGACACTTACGAGACCCACCTGGAG
ACTTGCCGCTTCGAGGGCCTGAAGGAGTTTCTGCAGCAGACGGATGACCGCTTCCACGAGATGCACGTGGCTCTGGCCCAGAAGGACCAGGAGATCGCCTTCCTG
CGCTCCATGCTGGGAAAGCTCTCGGAGAAGATCGACCAGCTAGAGAAGAGCCTGGAGCTCAAGTTTGACGTCCTGGACGAAAACCAGAGCAAGCTCAGCGAGGAC
CTCATGGAGTTCCGGCGGGACGCATCCATGTTAAATGACGAGCTGTCCCACATCAACGCGCGGCTGAACATGGGCATCCTAGGCTCCTACGACCCTCAGCAGATC
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>TRAF7|84231|protein
MSSGKSARYNRFSGGPSNLPTPDVTTGTRMETTFGPAFSAVTTITKADGTSTYKQHCRTPSSSSTLAYSPRDEEDSMPPISTPRRSDSAISVRSLHSESSMSLRS
TFSLPEEEEEPEPLVFAEQPSVKLCCQLCCSVFKDPVITTCGHTFCRRCALKSEKCPVDNVKLTVVVNNIAVAEQIGELFIHCRHGCRVAGSGKPPIFEVDPRGC
PFTIKLSARKDHEGSCDYRPVRCPNNPSCPPLLRMNLEAHLKECEHIKCPHSKYGCTFIGNQDTYETHLETCRFEGLKEFLQQTDDRFHEMHVALAQKDQEIAFL
RSMLGKLSEKIDQLEKSLELKFDVLDENQSKLSEDLMEFRRDASMLNDELSHINARLNMGILGSYDPQQIFKCKGTFVGHQGPVWCLCVYSMGDLLFSGSSDKTI
KVWDTCTTYKCQKTLEGHDGIVLALCIQGCKLYSGSADCTIIVWDIQNLQKVNTIRAHDNPVCTLVSSHNVLFSGSLKAIKVWDIVGTELKLKKELTGLNHWVRA
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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 (1) 1 (2) 0 (0) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 24 (5)
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
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
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
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