AutismKB 2.0

Evidence Details for FAM91A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:FAM91A1 ( DKFZp666B104,FLJ23790 )
Gene Full Name: family with sequence similarity 91, member A1
Band: 8q24.13
Quick LinksEntrez ID:157769; OMIM: NA; Uniprot ID:F91A1_HUMAN; ENSEMBL ID: ENSG00000176853; HGNC ID: 26306
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM91A1|157769|nucleotide
ATGAACATAGACGTGGAGTTCCACATCCGGCACAACTACCCCTGGAACAAGTTGCCGGCCAACGTGAGACAGAGTCTTGGAAATTCACAGAGAGAATATGAAAAG
CAGGTTGTCCTGTACAGTATCCGCAATCAGTTACGATATAGAAATAACTTAGTTAAACATGTCAAGAAAGATGAACGCAGATACTATGAGGAACTGCTAAAGTAC
AGCCGAGATCATCTCATGCTGTACCCTTACCATCTATCGGATATTATGGTGAAAGGCTTGAGGATAACACCATTTTCATATTATACTGGGATTATGGAGGATATT
ATGAACAGTGAGAAAAGTTATGATTCATTGCCCAATTTTACTGCTGCTGACTGTCTAAGGCTTCTTGGCATAGGAAGAAACCAGTATATTGATCTTATGAATCAG
TGTAGATCATCAAAAAAATTCTTCAGAAGGAAAACAGCCCGTGATCTTCTACCAATAAAGCCAGTGGAAATTGCCATAGAGGCGTGGTGGGTGGTGCAGGCTGGC
TATATCACAGAAGATGACATCAAGATATGCACTTTGCCTGAGAAATGCGCTGTTGATAAGATCATCGATTCAGGCCCTCAACTCTCTGGATCACTAGATTACAAT
GTAGTACATAGTTTGTATAACAAAGGATTTATTTATCTGGATGTACCAATATCTGATGACAGTTGTATAGCAGTTCCACCTCTTGAAGGTTTTGTAATGAATCGA
GTGCAAGGTGATTATTTTGAAACTCTACTCTATAAGATATTTGTTTCAATAGATGAGCACACAAATGTTGCAGAGCTTGCAAATGTCCTTGAGATTGACTTATCC
CTGGTTAAGAATGCTGTTTCAATGTATTGCCGATTGGGCTTTGCCCATAAGAAGGGACAAGTAATTAATTTGGATCAACTTCATTCATCATGGAAGAATGTTCCA
TCCGTAAACAGATTAAAGAGTACCTTAGATCCACAGAAGATGCTCTTGTCATGGGATGGAGGGGAAAGTAGGAGTCCTGTACAAGAAGCTTCATCGGCAACTGAC
ACTGATACAAATAGTCAAGAAGATCCAGCTGACACAGCCAGTGTAAGCAGCCTGAGTCTGTCTACAGGACACACGAAGCGCATCGCATTCCTGTTTGACTCCACT
Show »

>FAM91A1|157769|protein
MNIDVEFHIRHNYPWNKLPANVRQSLGNSQREYEKQVVLYSIRNQLRYRNNLVKHVKKDERRYYEELLKYSRDHLMLYPYHLSDIMVKGLRITPFSYYTGIMEDI
MNSEKSYDSLPNFTAADCLRLLGIGRNQYIDLMNQCRSSKKFFRRKTARDLLPIKPVEIAIEAWWVVQAGYITEDDIKICTLPEKCAVDKIIDSGPQLSGSLDYN
VVHSLYNKGFIYLDVPISDDSCIAVPPLEGFVMNRVQGDYFETLLYKIFVSIDEHTNVAELANVLEIDLSLVKNAVSMYCRLGFAHKKGQVINLDQLHSSWKNVP
SVNRLKSTLDPQKMLLSWDGGESRSPVQEASSATDTDTNSQEDPADTASVSSLSLSTGHTKRIAFLFDSTLTAFLMMGNLSPNLKSHAVTMFEVGKLSDESLDSF
LIELEKVQSTGEGEAQRYFDHALTLRNTILFLRHNKDLVAQTAQPDQPNYGFPLDLLRCESLLGLDPATCSRVLNKNYTLLVSMAPLTNEIRPVSSCTPQHIGPA
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
Liu, 2001 USA microsatellite-based genomic screenautism, ASD 110 - 110 - - - -
Ylisaukko-oja, 2006 USA, Finland microsatellite-based genomic screenASD 314 - 314 - - - -
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
Iossifov I, 2012 - 343 50 De novo gene disruptions in children on the autistic spectrum.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
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