AutismKB 2.0

Evidence Details for FAM200A


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Basic Information Top
Gene Symbol:FAM200A ( C7orf38,DKFZp727G131,FLJ36794 )
Gene Full Name: family with sequence similarity 200, member A
Band: 7q22.1
Quick LinksEntrez ID:221786; OMIM: NA; Uniprot ID:F200A_HUMAN; ENSEMBL ID: ENSG00000221909; HGNC ID: 25401
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM200A|221786|nucleotide
ATGACTCCTGAATCAAGGGATACTACAGATTTGTCTCCAGGGGGTACCCAGGAGATGGAAGGCATCGTGATAGTGAAGGTGGAGGAGGAAGATGAAGAAGACCAT
TTTCAAAAGGAAAGAAACAAAGTAGAGTCATCGCCACAAGTTCTCAGTCGCTCTACAACTATGAATGAGAGAGCCTTATTGTCATCGTATTTAGTTGCATATAGA
GTGGCAAAAGAGAAAATGGCTCACACAGCGGCTGAAAAAATTATCCTTCCAGCATGTATGGACATGGTACGGACAATTTTTGATGACAAATCAGCTGATAAACTA
AGAACTATACCTCTTAGTGATAATACAATATCTCGTCGAATCTGTACGATTGCAAAACATTTGGAAGCAATGCTTATTACACGGCTGCAGTCCGGTATAGACTTT
GCAATCCAACTCGATGAGAGCACTGATATTGCAAGTTGTCCCACACTCTTGGTTTATGTCAGATATGTGTGGCAAGATGATTTTGTAGAGGATCTCTTATGTTGT
TTAAATTTAAATTCACATATAACTGGATTAGATTTATTTACTGAATTAGAAAACTGCCTTCTTGGTCAGTATAAATTAAACTGGAAACATTGTAAAGGAATTTCA
AGTGATGGAACAGCAAATATGACCGGAAAACACAGCAGACTTACTGAAAAATTGTTAGAAGCAACCCACAACAATGCTGTTTGGAATCACTGTTTTATTCATCGA
GAAGCTTTGGTATCCAAAGAAATTTCACCAAGTCTGATGGATGTATTGAAAAATGCAGTGAAAACTGTTAATTTTATTAAAGGAAGCTCACTGAATAGCCGACTT
CTCGAAATATTTTGTTCAGAGATTGGAGTGAACCACACCCACTTATTGTTTCATACAGAAGTTCGTTGGCTTTCTCAAGGAAAAGTATTGAGCAGAGTATATGAA
CTCAGGAACGAGATTTACATTTTTCTCGTTGAAAAGCAATCTCATTTGGCAAATATTTTTGAAGACGACATTTGGGTAACAAAATTGGCATATTTAAGTGATATT
TTTGGCATTCTTAATGAATTAAGCCTGAAAATGCAGGGGAAAAACAATGATATATTTCAGTATCTTGAACATATTCTAGGATTCCAAAAGACGTTATTATTGTGG
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>FAM200A|221786|protein
MTPESRDTTDLSPGGTQEMEGIVIVKVEEEDEEDHFQKERNKVESSPQVLSRSTTMNERALLSSYLVAYRVAKEKMAHTAAEKIILPACMDMVRTIFDDKSADKL
RTIPLSDNTISRRICTIAKHLEAMLITRLQSGIDFAIQLDESTDIASCPTLLVYVRYVWQDDFVEDLLCCLNLNSHITGLDLFTELENCLLGQYKLNWKHCKGIS
SDGTANMTGKHSRLTEKLLEATHNNAVWNHCFIHREALVSKEISPSLMDVLKNAVKTVNFIKGSSLNSRLLEIFCSEIGVNHTHLLFHTEVRWLSQGKVLSRVYE
LRNEIYIFLVEKQSHLANIFEDDIWVTKLAYLSDIFGILNELSLKMQGKNNDIFQYLEHILGFQKTLLLWQARLKSNRPSYYMFPTLLQHIEENIINEDCLKEIK
LEILLHLTSLSQTFNYYFPEEKFESLKENIWMKDPFAFQNPESIIELNLEPEEENELLQLSSSFTLKNYYKILSLSAFWIKIKDDFPLLSRKSILLLLPFTTTYL
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (1) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
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.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Toma C, 2014 - Illumina HiSeq 2000--ASD 10 - - 21 -
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