AutismKB 2.0

Evidence Details for FAF1


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Basic Information Top
Gene Symbol:FAF1 ( FLJ37524,HFAF1s,UBXD12,UBXN3A,hFAF1 )
Gene Full Name: Fas (TNFRSF6) associated factor 1
Band: 1p32.3
Quick LinksEntrez ID:11124; OMIM: 604460; Uniprot ID:FAF1_HUMAN; ENSEMBL ID: ENSG00000185104; HGNC ID: 3578
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAF1|11124|nucleotide
ATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAGGCATGTACTGGCATTGAAAACATTGACGAAGCTATTACATTGCTTGAACAAAATAATTGG
GACTTAGTGGCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATTCTACAAAGTGAATATGGAGGTGAGACCATACCAGGACCTGCATTTAATCCAGCAAGT
CATCCAGCTTCAGCTCCTACTTCCTCTTCTTCTTCAGCGTTTCGACCTGTAATGCCATCCAGGCAGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTT
GAATACAGAGACAGAAATGTTGATGTGGTACTTGAAGACACCTGTACTGTTGGAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATG
CTGTTAAAAGGCTGGAAGACGGGAGATGTGGAAGACAGTACGGTCCTAAAATCTCTACACTTGCCAAAAAACAACAGTCTTTATGTCCTTACACCAGATTTGCCA
CCACCTTCATCATCTAGTCATGCTGGTGCCCTGCAGGAGTCATTAAATCAAAACTTCATGCTGATCATCACCCACCGAGAAGTCCAGCGGGAGTACAACCTGAAC
TTCTCAGGAAGCAGTACTATTCAAGAGGTAAAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGGCCAACTTCTGCTACA
GACGACTCAATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGCCATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAA
CAAATCACCGATGTTCATATGGTTAGTGATAGCGATGGAGATGACTTTGAAGATGCTACAGAATTTGGGGTGGATGATGGAGAAGTATTTGGCATGGCGTCATCT
GCCTTGAGAAAATCTCCAATGATGCCAGAAAACGCAGAAAATGAAGGAGATGCCTTATTACAATTTACAGCAGAGTTTTCTTCAAGATATGGTGATTGCCATCCT
GTATTTTTTATTGGCTCATTAGAAGCTGCTTTTCAAGAGGCCTTCTATGTGAAAGCCCGAGATAGAAAGCTTCTTGCTATCTACCTCCACCATGATGAAAGTGTG
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>FAF1|11124|protein
MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAPTSSSSSAFRPVMPSRQIVERQPRMLDFRV
EYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSTVLKSLHLPKNNSLYVLTPDLPPPSSSSHAGALQESLNQNFMLIITHREVQREYNLN
FSGSSTIQEVKRNVYDLTSIPVRHQLWEGWPTSATDDSMCLAESGLSYPCHRLTVGRRSSPAQTREQSEEQITDVHMVSDSDGDDFEDATEFGVDDGEVFGMASS
ALRKSPMMPENAENEGDALLQFTAEFSSRYGDCHPVFFIGSLEAAFQEAFYVKARDRKLLAIYLHHDESVLTNVFCSQMLCAESIVSYLSQNFITWAWDLTKDSN
RARFLTMCNRHFGSVVAQTIRTQKTDQFPLFLIIMGKRSSNEVLNVIQGNTTVDELMMRLMAAMEIFTAQQQEDIKDEDEREARENVKREQDEAYRLSLEADRAK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top