AutismKB 2.0

Evidence Details for CLEC4A


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Basic Information Top
Gene Symbol:CLEC4A ( CLECSF6,DCIR,DDB27,LLIR )
Gene Full Name: C-type lectin domain family 4, member A
Band: 12p13.31
Quick LinksEntrez ID:50856; OMIM: 605306; Uniprot ID:CLC4A_HUMAN; ENSEMBL ID: ENSG00000111729; HGNC ID: 13257
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLEC4A|50856|nucleotide
ATGACTTCGGAAATCACTTATGCTGAAGTGAGGTTCAAAAATGAATTCAAGTCCTCAGGCATCAACACAGCCTCTTCTGCAGCTTCCAAGGAGAGGACTGCCCCT
CACAAAAGTAATACCGGATTCCCCAAGCTGCTTTGTGCCTCACTGTTGATATTTTTCCTGCTATTGGCAATCTCATTCTTTATTGCTTTTGTCATTTTCTTTCAA
AAATATTCTCAGCTTCTTGAAAAAAAGACTACAAAAGAGCTGGTTCATACAACATTGGAGTGTGTGAAAAAAAATATGCCCGTGGAAGAGACAGCCTGGAGCTGT
TGCCCAAAGAATTGGAAGTCATTTAGTTCCAACTGCTACTTTATTTCTACTGAATCAGCATCTTGGCAAGACAGTGAGAAGGACTGTGCTAGAATGGAGGCTCAC
CTGCTGGTGATAAACACTCAAGAAGAGCAGGATTTCATCTTCCAGAATCTGCAAGAAGAATCTGCTTATTTTGTGGGGCTCTCAGATCCAGAAGGTCAGCGACAT
TGGCAATGGGTTGATCAGACACCATACAATGAAAGTTCCACATTCTGGCATCCACGTGAGCCCAGTGATCCCAATGAGCGCTGCGTTGTGCTAAATTTTCGTAAA
TCACCCAAAAGATGGGGCTGGAATGATGTTAATTGTCTTGGTCCTCAAAGGTCAGTTTGTGAGATGATGAAGATCCACTTATGA




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>CLEC4A|50856|protein
MTSEITYAEVRFKNEFKSSGINTASSAASKERTAPHKSNTGFPKLLCASLLIFFLLLAISFFIAFVIFFQKYSQLLEKKTTKELVHTTLECVKKNMPVEETAWSC
CPKNWKSFSSNCYFISTESASWQDSEKDCARMEAHLLVINTQEEQDFIFQNLQEESAYFVGLSDPEGQRHWQWVDQTPYNESSTFWHPREPSDPNERCVVLNFRK
SPKRWGWNDVNCLGPQRSVCEMMKIHL


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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 (1) 0 (0) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top