AutismKB 2.0

Evidence Details for FAM169A


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Basic Information Top
Gene Symbol:FAM169A ( KIAA0888 )
Gene Full Name: family with sequence similarity 169, member A
Band: 5q13.3
Quick LinksEntrez ID:26049; OMIM: NA; Uniprot ID:F169A_HUMAN; ENSEMBL ID: ENSG00000198780; HGNC ID: 29138
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM169A|26049|nucleotide
ATGGCATTCCCTGTGGATATGCTGGAAAATTGCAGCCATGAGGAATTGGAAAATTCTGCTGAAGATTACATGTCAGATTTAAGGTGTGGGGACCCTGAAAATCCA
GAGTGTTTTTCTCTTCTCAATATTACGATTCCTATTAGCCTGTCAAATGTAGGCTTTGTACCTCTTTATGGTGGAGATCAGACCCAGAAAATTCTTGCTCTCTTT
GCACCTGAAGATTCACTGACAGCTGTGGCACTTTACCTTGCTGATCAGTGGTGGGCTATTGATGATATTGTGAAAACATCTGTTCCTTCAAGAGAGGGGCTTAAG
CAGGTGAGCACTCTTGGGGAGAGAGTGGTTCTGTATGTTCTGAATCGAATTATTTATAGAAAACAGGAAATGGAGAGAAATGAGATCCCATTCCTGTGTCATAGC
AGTACTGATTATGCTAAGATTCTGTGGAAGAAAGGAGAGGCCATTGGGTTTTATTCAGTTAAGCCTACAGGAAGCATATGTGCCTCTTTTCTTACCCAAAGTTAC
CAATTGCCAGTTCTTGATACAATGTTTCTAAGAAAGAAATACAGAGGTAAAGATTTTGGGCTTCACATGCTGGAGGACTTTGTTGATTCCTTTACAGAAGATGCG
CTTGGCTTGCGGTATCCACTGTCTTCTCTCATGTATACAGCTTGCAAGCAATACTTTGAGAAGTATCCAGGAGACCATGAACTCCTTTGGGAAGTTGAAGGTGTT
GGACACTGGTACCAGCGAATACCAGTCACCAGAGCATTACAAAGAGAAGCACTTAAAATTCTAGCACTTTCTCAAAATGAACCTAAAAGACCTATGTCTGGAGAA
TATGGTCCTGCATCTGTTCCAGAATACGAAGCAAGAACTGAAGACAATCAGTCTAGTGAGATGCAGCTAACTATTGATTCTCTAAAAGATGCCTTTGCAAGCACT
TCCGAAGGTCATGATAAAACATCTGTTTCCACTCATACTCGAAGTGGTAATCTAAAGCGGCCAAAGATTGGAAAGCGGTTTCAGGATTCTGAATTTAGCAGTTCT
CAAGGTGAAGATGAAAAGACCTCCCAGACTTCACTTACAGCTTCAATAAACAAATTGGAGTCTACTGCACGCCCATCAGAGAGCTCAGAAGAATTCCTGGAAGAA
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>FAM169A|26049|protein
MAFPVDMLENCSHEELENSAEDYMSDLRCGDPENPECFSLLNITIPISLSNVGFVPLYGGDQTQKILALFAPEDSLTAVALYLADQWWAIDDIVKTSVPSREGLK
QVSTLGERVVLYVLNRIIYRKQEMERNEIPFLCHSSTDYAKILWKKGEAIGFYSVKPTGSICASFLTQSYQLPVLDTMFLRKKYRGKDFGLHMLEDFVDSFTEDA
LGLRYPLSSLMYTACKQYFEKYPGDHELLWEVEGVGHWYQRIPVTRALQREALKILALSQNEPKRPMSGEYGPASVPEYEARTEDNQSSEMQLTIDSLKDAFAST
SEGHDKTSVSTHTRSGNLKRPKIGKRFQDSEFSSSQGEDEKTSQTSLTASINKLESTARPSESSEEFLEEEPEQRGIEFEDESSDRDARPALETQPQQEKQDGEK
ESELEPMNGEIMDDSLKTSLITEEEDSTSEVLDEELKLQPFNSSEDSTNLVPLVVESSKPPEVDAPDKTPRIPDSEMLMDEGTSDEKGHMEEKLSLLPRKKAHLG
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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 (1) 0 (0) 0 (1) 0 (0) 0 (2)
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
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

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