AutismKB 2.0

Evidence Details for C2CD3


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Basic Information Top
Gene Symbol:C2CD3 ( DKFZp586P0123,FLJ34770 )
Gene Full Name: C2 calcium-dependent domain containing 3
Band: 11q13.4
Quick LinksEntrez ID:26005; OMIM: NA; Uniprot ID:C2CD3_HUMAN; ENSEMBL ID: ENSG00000168014; HGNC ID: 24564
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C2CD3|26005|nucleotide
ATGAAACAACGAAAAGGCCAAGGGTCTGGGGGCAGCCGTGGGCGCAAAAAAAGAGGTTTAAGTGACATTTCTCCATCTACAAGCCTGCCACCTCTGGTTGAAGGC
CAGCTACGCTGTTTTCTAAAACTTACTGTTAATAGAGTCATATGGAAGATTGCAAAGCCTCCCACTTGTGTACTTGTCCGAGTGAGATGGTGGGGAGAAACATCA
GATGGAACCCTCTTTTGTCCCAGGGATGCATTGCAGACTGAACCAAAAGCTGTGAGAACAACTACACGTTACGCTATTCGTTGTGGTCCAAAACAGTTTACCTCT
TATCTAACAGATATGGCTGTGCTGGTGCTGGAAGTAATCACCAAACTTGATGGTCTTCCAATTGGTAGAGTTCAGATCAATGGACTAGCTCAACTTTCTCCAACC
CATCAAATCAATGGATTTTTTACCATTGTTTCATCAACGTCTAAGAAACTTGGAGAACTCCAGGTCTCACTTGCCCTGGAACCTCTGTCAGAAACTTACGACAGC
TACCATCCACTTCCTACCACTGACATGACAGAAAATGTGCTTTTATCTAAGCAGGGATTCAGAGAGAATACTGAACCCAGCAGTACCCAGTTTCAGGTTCCATCA
AGGCCTCGCGACATACATACCATCAAAATTGATGGAAAAGAGTTAGCAGCCAACAGCAGTAGATCAACCACTCCGAGGGGAAAAGACCATGTATGCTTTGCAGAG
AACCCTGATACAATAAAGGATTCTTCCTTTGGACTACAGCACAGTCTTAATTCAGGACAGAGTTTAGAGTCTGTAACTCTGAAAGGCAGAGCTCCACGGAAGCAG
ATGTCCCTTCTGAACAGTTCTGAATTCCAGCCTCAAATTAGAACAGTTGCCAAGAGTCACAGTGACTCATGCATTCTTTCTTCAAACAACCTCCCTACCAAGGAT
CTTCTTTCAGCTCTGTTAGAACAAGGCAATAAACTGCGTAATGCCATGGTGATTTCTGCAATGAAATCAAGCCCAGAGACCAGCATGTTGTTGGACCAAGTTCAT
CCTCCTATTAATGAAGATTCTCTTAGAGCATCAACACAGATCAGAGCCTTTTCTAGGAATCGGTTTAAAGACCACATTGAAGATCACCTCCTCCCTTCAACTGAG
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>C2CD3|26005|protein
MKQRKGQGSGGSRGRKKRGLSDISPSTSLPPLVEGQLRCFLKLTVNRVIWKIAKPPTCVLVRVRWWGETSDGTLFCPRDALQTEPKAVRTTTRYAIRCGPKQFTS
YLTDMAVLVLEVITKLDGLPIGRVQINGLAQLSPTHQINGFFTIVSSTSKKLGELQVSLALEPLSETYDSYHPLPTTDMTENVLLSKQGFRENTEPSSTQFQVPS
RPRDIHTIKIDGKELAANSSRSTTPRGKDHVCFAENPDTIKDSSFGLQHSLNSGQSLESVTLKGRAPRKQMSLLNSSEFQPQIRTVAKSHSDSCILSSNNLPTKD
LLSALLEQGNKLRNAMVISAMKSSPETSMLLDQVHPPINEDSLRASTQIRAFSRNRFKDHIEDHLLPSTENTFWRHDTKADTRAIQLLLGSAELSQGNFWDGLGS
PPDSPSPGSDVYCISELNDPQYDQSLLENLFYTAPKSDTSISDFLSEEDDIVPSKKISQSTALARSSKVLESSDHKLKKRSAGKRNRNLVEQQMLSETPEDAQTM
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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) 1 (1) 0 (0) 0 (2) 0 (0) 12 (4)
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