AutismKB 2.0

Evidence Details for FCHSD2


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Basic Information Top
Gene Symbol:FCHSD2 ( KIAA0769,NWK,SH3MD3 )
Gene Full Name: FCH and double SH3 domains 2
Band: 11q13.4
Quick LinksEntrez ID:9873; OMIM: NA; Uniprot ID:FCSD2_HUMAN; ENSEMBL ID: ENSG00000137478; HGNC ID: 29114
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FCHSD2|9873|nucleotide
ATGCAGCCGCCGCCGAGGAAGGTGAAAGTTACACAAGAACTGAAAAACATTCAAGTTGAGCAGATGACAAAACTTCAAGCCAAACATCAAGCAGAATGTGATTTG
CTTGAAGATATGAGGACATTCAGTCAGAAGAAGGCTGCTATTGAAAGAGAGTATGCACAGGGTATGCAGAAGTTGGCTAGTCAATACCTGAAGAGAGATTGGCCT
GGAGTAAAAGCTGATGATCGGAATGATTACAGGAGCATGTATCCCGTTTGGAAATCTTTTCTCGAGGGAACAATGCAGGTAGCCCAGTCTCGGATGAATATATGT
GAAAACTATAAAAACTTCATTTCTGAGCCTGCAAGGACAGTGAGAAGCTTAAAAGAACAGCAACTAAAAAGGTGTGTGGACCAGTTGACAAAGATCCAAACTGAA
TTACAAGAGACAGTGAAAGATTTAGCTAAAGGCAAAAAGAAATACTTTGAGACTGAACAGATGGCTCATGCAGTACGAGAGAAAGCTGACATCGAGGCAAAATCT
AAACTTAGTCTTTTTCAATCAAGAATCAGTTTACAGAAGGCAAGTGTAAAGTTAAAAGCCCGGCGATCTGAGTGTAATTCCAAAGCTACCCACGCAAGGAATGAT
TATCTTCTTACCCTAGCGGCAGCAAATGCACATCAGGATCGCTACTATCAAACAGATTTAGTTAACATTATGAAGGCTCTTGATGGAAATGTGTATGATCATCTC
AAGGATTATTTAATAGCCTTCAGCCGGACTGAGCTAGAAACATGCCAAGCTGTGCAGAACACATTCCAGTTTTTATTAGAAAACTCCAGCAAGGTGGTCCGGGAC
TACAATCTTCAGCTGTTTTTGCAAGAAAACGCTGTATTTCACAAACCCCAGCCCTTCCAGTTCCAGCCTTGTGACAGTGATACTAGCCGACAGTTAGAATCAGAA
ACTGGGACCACAGAGGAGCACAGTCTAAATAAGGAAGCTCGAAAATGGGCCACACGTGTGGCACGTGAGCATAAAAACATTGTTCACCAACAACGGGTTCTAAAT
GATCTGGAGTGTCATGGAGCTGCTGTATCAGAACAAAGCCGAGCAGAGCTAGAACAGAAAATAGATGAAGCTAGAGAAAATATTCGTAAAGCAGAGATAATTAAA
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>FCHSD2|9873|protein
MQPPPRKVKVTQELKNIQVEQMTKLQAKHQAECDLLEDMRTFSQKKAAIEREYAQGMQKLASQYLKRDWPGVKADDRNDYRSMYPVWKSFLEGTMQVAQSRMNIC
ENYKNFISEPARTVRSLKEQQLKRCVDQLTKIQTELQETVKDLAKGKKKYFETEQMAHAVREKADIEAKSKLSLFQSRISLQKASVKLKARRSECNSKATHARND
YLLTLAAANAHQDRYYQTDLVNIMKALDGNVYDHLKDYLIAFSRTELETCQAVQNTFQFLLENSSKVVRDYNLQLFLQENAVFHKPQPFQFQPCDSDTSRQLESE
TGTTEEHSLNKEARKWATRVAREHKNIVHQQRVLNDLECHGAAVSEQSRAELEQKIDEARENIRKAEIIKLKAEARLDLLKQIGVSVDTWLKSAMNQVMEELENE
RWARPPAVTSNGTLHSLNADTEREEGEEFEDNMDVFDDSSSSPSGTLRNYPLTCKVVYSYKASQPDELTIEEHEVLEVIEDGDMEDWVKARNKVGQVGYVPEKYL
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top