AutismKB 2.0

Evidence Details for FAM81A


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Basic Information Top
Gene Symbol:FAM81A ( MGC26690 )
Gene Full Name: family with sequence similarity 81, member A
Band: 15q22.2
Quick LinksEntrez ID:145773; OMIM: NA; Uniprot ID:FA81A_HUMAN; ENSEMBL ID: ENSG00000157470; HGNC ID: 28379
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM81A|145773|nucleotide
ATGGAAAATATGCATCTAAGGCGAGTGAGAACCATGCCCCGACACAGCCAGTCCCTGACCATGGCACCATACTCATCTGTAAGCCTCGTGGAGCAGCTGGAAGAC
AGGATCCTCTGCCATGAGAAAACCACCGCCGCCCTCGTAGAGCACGCCTTTCGGATTAAAGATGACATTGTCAACAGTTTGCAGAAAATGCAAAACAAAGGGGGA
GGTGACCGCTTGGCCAGGCTTTTCTTGGAGGAGCATATCAGAAACATAACTGCCATAGTGAAGCAACTTAATCGGGATATCGAGGTACTCCAGGAGCAGATTCGT
GCCCGGGACAACATTAGCTATGGAACTAATTCTGCCTTAAAGACCCTGGAGATGCGCCAGCTCTCCGGTTTGGGAGATCTTCGAGGAAGAGTGGCAAGATGTGAT
GCCAGCATAGCTAGACTTTCTGCAGAGCACAAAACGACCTATGAGGGGCTCCAGCACTTGAACAAAGAACAGCAGGCTGCCAAACTTATCTTGGAAACGAAAATC
AAAGATGCAGAGGGACAGATTTCTCAGCTTTTGAACAGAGTGGACTTGTCAATATCAGAGCAGAGCACCAAACTGAAGATGTCTCACAGAGACAGTAACCACCAG
CTTCAGCTTTTGGACACTAAATTTAAAGGTACAGTTGAGGAACTCAGTAACCAGATATTATCTGCACGGAGTTGGTTGCAACAGGAACAAGAACGGATAGAAAAA
GAGCTTTTACAGAAAATTGATCAGCTTTCCTTGATTGTTAAGGAAAACAGTGGAGCCAGTGAAAGGGATATGGAGAAGAAGCTCAGCCAGATGTCAGCCAGGCTT
GACAAAATAGAAGAGGGTCAAAAGAAGACTTTTGATGGTCAGAGAACAAGGCAAGAAGAGGAGAAGATGCACGGGCGAATCACCAAGCTGGAGTTACAGATGAAC
CAGAACATCAAGGAAATGAAAGCAGAAGTTAATGCTGGGTTTACAGCCGTCTATGAAAGCATAGGATCCCTCAGGCAAGTTCTCGAGGCCAAGATGAAGCTGGAC
AGGGACCAGCTACAGAAGCAAATCCAGCTGATGCAGAAGCCAGAGACCCCCATGTGA
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>FAM81A|145773|protein
MENMHLRRVRTMPRHSQSLTMAPYSSVSLVEQLEDRILCHEKTTAALVEHAFRIKDDIVNSLQKMQNKGGGDRLARLFLEEHIRNITAIVKQLNRDIEVLQEQIR
ARDNISYGTNSALKTLEMRQLSGLGDLRGRVARCDASIARLSAEHKTTYEGLQHLNKEQQAAKLILETKIKDAEGQISQLLNRVDLSISEQSTKLKMSHRDSNHQ
LQLLDTKFKGTVEELSNQILSARSWLQQEQERIEKELLQKIDQLSLIVKENSGASERDMEKKLSQMSARLDKIEEGQKKTFDGQRTRQEEEKMHGRITKLELQMN
QNIKEMKAEVNAGFTAVYESIGSLRQVLEAKMKLDRDQLQKQIQLMQKPETPM

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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) 1 (5) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 6 (8)
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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top