AutismKB 2.0

Evidence Details for TM9SF4


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Basic Information Top
Gene Symbol:TM9SF4 ( KIAA0255,dJ836N17.2 )
Gene Full Name: transmembrane 9 superfamily protein member 4
Band: 20q11.21
Quick LinksEntrez ID:9777; OMIM: NA; Uniprot ID:TM9S4_HUMAN; ENSEMBL ID: ENSG00000101337; HGNC ID: 30797
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TM9SF4|9777|nucleotide
ATGGCGACGGCGATGGATTGGTTGCCGTGGTCTTTACTGCTTTTCTCCCTGATGTGTGAAACAAGCGCCTTCTATGTGCCTGGGGTCGCGCCTATCAACTTCCAC
CAGAACGATCCCGTAGAAATCAAGGCTGTGAAGCTCACCAGCTCTCGAACCCAGCTACCTTATGAATACTATTCACTGCCCTTCTGCCAGCCCAGCAAGATAACC
TACAAGGCAGAGAATCTGGGAGAGGTGCTGAGAGGGGACCGGATTGTCAACACCCCTTTCCAGGTTCTCATGAACAGCGAGAAGAAGTGTGAAGTTCTGTGCAGC
CAGTCCAACAAGCCAGTGACCCTGACAGTGGAGCAGAGCCGACTCGTGGCCGAGCGGATCACAGAAGACTACTACGTCCACCTCATTGCTGACAACCTGCCTGTG
GCCACCCGGCTGGAGCTCTACTCCAACCGAGACAGCGATGACAAGAAGAAGGAAAAAGATGTGCAGTTTGAACACGGCTACCGGCTCGGCTTCACAGATGTCAAC
AAGATCTACCTGCACAACCACCTCTCATTCATCCTTTACTATCATCGGGAGGACATGGAAGAGGACCAGGAGCACACGTACCGTGTCGTCCGCTTCGAGGTGATT
CCCCAGAGCATCAGGCTGGAGGACCTCAAAGCAGATGAGAAGAGTTCGTGCACTCTGCCTGAGGGTACCAACTCCTCGCCCCAAGAAATTGACCCCACCAAGGAG
AATCAGCTGTACTTCACCTACTCTGTCCACTGGGAGGAAAGTGATATCAAATGGGCCTCTCGCTGGGACACTTACCTGACCATGAGTGACGTCCAGATCCACTGG
TTTTCTATCATTAACTCCGTTGTTGTGGTCTTCTTCCTGTCAGGTATCCTGAGCATGATTATCATTCGGACCCTCCGGAAGGACATTGCCAACTACAACAAGGAG
GATGACATTGAAGACACCATGGAGGAGTCTGGGTGGAAGTTGGTGCACGGCGACGTCTTCAGGCCCCCCCAGTACCCCATGATCCTCAGCTCCCTGCTGGGCTCA
GGCATTCAGCTGTTCTGTATGATCCTCATCGTCATCTTTGTAGCCATGCTTGGGATGCTGTCGCCCTCCAGCCGGGGAGCTCTCATGACCACAGCCTGCTTCCTC
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>TM9SF4|9777|protein
MATAMDWLPWSLLLFSLMCETSAFYVPGVAPINFHQNDPVEIKAVKLTSSRTQLPYEYYSLPFCQPSKITYKAENLGEVLRGDRIVNTPFQVLMNSEKKCEVLCS
QSNKPVTLTVEQSRLVAERITEDYYVHLIADNLPVATRLELYSNRDSDDKKKEKDVQFEHGYRLGFTDVNKIYLHNHLSFILYYHREDMEEDQEHTYRVVRFEVI
PQSIRLEDLKADEKSSCTLPEGTNSSPQEIDPTKENQLYFTYSVHWEESDIKWASRWDTYLTMSDVQIHWFSIINSVVVVFFLSGILSMIIIRTLRKDIANYNKE
DDIEDTMEESGWKLVHGDVFRPPQYPMILSSLLGSGIQLFCMILIVIFVAMLGMLSPSSRGALMTTACFLFMFMGVFGGFSAGRLYRTLKGHRWKKGAFCTATLY
PGVVFGICFVLNCFIWGKHSSGAVPFPTMVALLCMWFGISLPLVYLGYYFGFRKQPYDNPVRTNQIPRQIPEQRWYMNRFVGILMAGILPFGAMFIELFFIFSAI
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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 (1) 0 (0) 0 (0) 2 (3) 0 (0) 0 (0) 0 (0) 22 (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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
Fromer M, 2014 - - 94 De novo mutations in schizophrenia implicate synaptic networks.
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