AutismKB 2.0

Evidence Details for FAF2


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Basic Information Top
Gene Symbol:FAF2 ( ETEA,KIAA0887,UBXD8,UBXN3B )
Gene Full Name: Fas associated factor family member 2
Band: 5q35.2
Quick LinksEntrez ID:23197; OMIM: NA; Uniprot ID:FAF2_HUMAN; ENSEMBL ID: ENSG00000113194; HGNC ID: 24666
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAF2|23197|nucleotide
ATGGCGGCGCCTGAGGAGCGGGATCTAACCCAGGAGCAGACAGAGAAGCTGCTGCAGTTTCAGGATCTCACTGGCATCGAATCTATGGATCAGTGTCGCCATACC
TTGGAACAGCATAACTGGAACATAGAGGCTGCTGTACAGGACAGATTGAATGAGCAAGAGGGCGTACCTAGTGTTTTCAACCCACCTCCATCACGACCCCTGCAG
GTTAATACAGCTGACCACAGGATCTACAGCTATGTTGTCTCAAGACCTCAACCAAGGGGGCTGCTTGGATGGGGTTATTACTTGATAATGCTTCCATTCCGGTTT
ACCTATTACACGATACTTGATATATTTAGGTTTGCTCTTCGTTTTATACGGCCTGACCCTCGCAGCCGGGTCACTGACCCCGTTGGGGACATTGTTTCATTTATG
CACTCTTTTGAAGAGAAATATGGGAGGGCACACCCTGTCTTCTACCAGGGAACGTACAGCCAGGCACTTAACGATGCCAAAAGGGAGCTTCGCTTTCTTTTGGTT
TATCTTCATGGAGATGATCACCAGGACTCTGATGAGTTTTGTCGCAACACACTCTGTGCACCTGAAGTTATTTCACTAATAAACACTAGGATGCTCTTCTGGGCA
TGCTCTACAAACAAACCTGAGGGATACAGGGTCTCACAGGCTTTACGAGAGAACACCTATCCATTCCTGGCCATGATTATGCTGAAGGATCGAAGGATGACTGTG
GTGGGACGGCTAGAAGGCCTCATTCAACCTGATGACCTCATTAACCAACTGACATTTATCATGGATGCTAACCAGACTTACCTGGTGTCAGAACGCCTAGAAAGG
GAAGAAAGAAACCAGACCCAAGTGCTGAGACAACAGCAGGATGAGGCCTACCTGGCCTCTCTCAGAGCTGACCAGGAGAAAGAAAGAAAGAAACGGGAGGAGCGG
GAGCGTAAGCGGCGGAAGGAGGAGGAGGTGCAACAGCAAAAGTTGGCAGAGGAGAGACGGCGGCAGAATTTACAGGAGGAAAAGGAAAGGAAGTTGGAATGCCTG
CCCCCTGAACCTTCCCCTGATGACCCTGAAAGTGTCAAGATCATCTTCAAATTACCTAATGATTCTCGAGTAGAGAGACGATTCCACTTTTCACAGTCTCTAACA
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>FAF2|23197|protein
MAAPEERDLTQEQTEKLLQFQDLTGIESMDQCRHTLEQHNWNIEAAVQDRLNEQEGVPSVFNPPPSRPLQVNTADHRIYSYVVSRPQPRGLLGWGYYLIMLPFRF
TYYTILDIFRFALRFIRPDPRSRVTDPVGDIVSFMHSFEEKYGRAHPVFYQGTYSQALNDAKRELRFLLVYLHGDDHQDSDEFCRNTLCAPEVISLINTRMLFWA
CSTNKPEGYRVSQALRENTYPFLAMIMLKDRRMTVVGRLEGLIQPDDLINQLTFIMDANQTYLVSERLEREERNQTQVLRQQQDEAYLASLRADQEKERKKREER
ERKRRKEEEVQQQKLAEERRRQNLQEEKERKLECLPPEPSPDDPESVKIIFKLPNDSRVERRFHFSQSLTVIHDFLFSLKESPEKFQIEANFPRRVLPCIPSEEW
PNPPTLQEAGLSHTEVLFVQDLTDE
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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) 1 (2) 0 (0) 0 (0) 0 (0) 10 (3)
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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top