AutismKB 2.0

Evidence Details for TMEM184A


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Basic Information Top
Gene Symbol:TMEM184A ( FLJ24011,MGC9712 )
Gene Full Name: transmembrane protein 184A
Band: 7p22.3
Quick LinksEntrez ID:202915; OMIM: NA; Uniprot ID:T184A_HUMAN; ENSEMBL ID: ENSG00000164855; HGNC ID: 28797
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMEM184A|202915|nucleotide
ATGAGTAATGTCTCAGGGATCCTGGAGACAGCCGGCGTCCCCCTGGTGTCAGCGAACTGGCCGCAGCCCAGCCCCCCACCGGCTGTGCCAGCTGGGCCGCAGATG
GACCACATGGGGAACAGCTCCCAGGGGGCCCCCTGGCTCTTCCTCACCTCCGCACTGGCCCGAGGCGTCTCGGGGATCTTCGTGTGGACTGCCCTGGTGCTCACC
TGCCACCAGATCTATCTGCACCTGCGCTCCTACACCGTGCCACAGGAGCAACGTTACATCATCCGCCTGCTCCTCATCGTGCCCATCTACGCCTTCGACTCCTGG
CTCAGCCTCCTCCTCCTCGGAGACCACCAGTACTACGTCTACTTCGACTCTGTGCGGGACTGCTACGAAGCCTTTGTCATTTACAGCTTCCTGAGCCTGTGTTTC
CAGTACCTGGGAGGCGAGGGCGCCATCATGGCTGAGATTCGTGGAAAGCCCATCAAGTCCAGCTGCTTGTACGGCACCTGCTGCCTCCGGGGCATGACCTACTCC
ATCGGGTTCCTGCGCTTCTGTAAGCAGGCCACTCTGCAGTTCTGCCTGGTGAAGCCCGTCATGGCCGTCACCACCATCATCCTCCAGGCATTTGGCAAATACCAC
GACGGGGACTTCAATGTCCGCAGCGGCTACCTCTATGTGACCCTCATCTACAACGCCTCCGTCAGCCTCGCCCTCTACGCCCTGTTCCTCTTCTACTTCACCACC
AGGGAGCTCCTGCGGCCCTTCCAGCCCGTCCTCAAGTTCCTCACCATCAAAGCCGTCATCTTCCTGTCGTTCTGGCAAGGGCTGCTGCTGGCCATCCTGGAGCGG
TGCGGGGTCATCCCGGAGGTGGAGACCAGCGGCGGGAACAAGCTGGGGGCTGGCACGCTGGCCGCCGGCTACCAGAACTTCATCATCTGCGTGGAGATGCTGTTC
GCCTCCGTGGCCCTGCGTTATGCCTTCCCCTGCCAGGTGTACGCAGAGAAGAAGGAGAATTCACCAGCCCCCCCGGCACCCATGCAGAGCATCTCCAGCGGCATC
AGGGAGACAGTGAGCCCCCAGGACATCGTGCAGGACGCCATCCACAACTTCTCCCCCGCCTACCAGCACTACACGCAGCAGGCCACGCACGAGGCGCCCAGGCCC
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>TMEM184A|202915|protein
MSNVSGILETAGVPLVSANWPQPSPPPAVPAGPQMDHMGNSSQGAPWLFLTSALARGVSGIFVWTALVLTCHQIYLHLRSYTVPQEQRYIIRLLLIVPIYAFDSW
LSLLLLGDHQYYVYFDSVRDCYEAFVIYSFLSLCFQYLGGEGAIMAEIRGKPIKSSCLYGTCCLRGMTYSIGFLRFCKQATLQFCLVKPVMAVTTIILQAFGKYH
DGDFNVRSGYLYVTLIYNASVSLALYALFLFYFTTRELLRPFQPVLKFLTIKAVIFLSFWQGLLLAILERCGVIPEVETSGGNKLGAGTLAAGYQNFIICVEMLF
ASVALRYAFPCQVYAEKKENSPAPPAPMQSISSGIRETVSPQDIVQDAIHNFSPAYQHYTQQATHEAPRPGTHPSGGSGGSRKSRSLEKRMLIPSEDL

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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
Low Scale Gene Studies Top

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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