AutismKB 2.0

Evidence Details for CARD11


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Basic Information Top
Gene Symbol:CARD11 ( BIMP3,CARMA1,MGC133069 )
Gene Full Name: caspase recruitment domain family, member 11
Band: 7p22.2
Quick LinksEntrez ID:84433; OMIM: 607210; Uniprot ID:CAR11_HUMAN; ENSEMBL ID: ENSG00000198286; HGNC ID: 16393
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CARD11|84433|nucleotide
ATGCCAGGAGGAGGGCCAGAGATGGATGACTACATGGAGACGCTGAAGGATGAAGAGGACGCCTTGTGGGAGAATGTGGAGTGTAACCGGCACATGCTCAGCCGC
TATATCAACCCTGCCAAGCTCACGCCCTACCTGCGTCAGTGTAAGGTCATTGATGAGCAGGATGAAGATGAAGTGCTTAATGCCCCTATGCTGCCATCCAAGATC
AACCGAGCAGGCCGGCTGTTGGACATTCTACATACCAAGGGGCAAAGGGGCTATGTGGTCTTCTTGGAGAGCCTAGAATTTTATTACCCAGAACTGTACAAACTG
GTGACTGGGAAAGAGCCCACTCGGAGATTCTCCACCATTGTGGTGGAGGAAGGCCACGAGGGCCTCACGCACTTCCTGATGAACGAGGTCATCAAGCTGCAGCAG
CAGATGAAGGCCAAGGACCTGCAACGCTGCGAGCTGCTGGCCAGGTTGCGGCAGCTGGAGGATGAGAAGAAGCAGATGACGCTGACGCGCGTGGAGCTGCTAACC
TTCCAGGAGCGGTACTACAAGATGAAGGAAGAGCGGGACAGCTACAATGACGAGCTGGTCAAGGTGAAGGACGACAACTACAACTTAGCCATGCGCTACGCACAG
CTCAGTGAGGAGAAGAACATGGCGGTCATGAGGAGCCGAGACCTCCAACTCGAGATCGATCAGCTAAAGCACCGGTTGAATAAGATGGAGGAGGAATGTAAGCTG
GAGAGAAATCAGTCTCTAAAACTGAAGAATGACATTGAAAATCGGCCCAAGAAGGAGCAGGTTCTGGAACTGGAGCGGGAGAATGAAATGCTGAAGACCAAAAAC
CAGGAGCTGCAGTCCATCATCCAGGCCGGGAAGCGCAGCCTGCCAGACTCAGACAAGGCCATCCTGGACATCTTGGAACACGACCGCAAGGAGGCCCTGGAGGAC
AGGCAGGAGCTGGTCAACAGGATCTACAACCTGCAGGAGGAGGCCCGCCAGGCAGAGGAGCTGCGAGACAAGTACCTGGAGGAGAAGGAGGACCTGGAGCTCAAG
TGCTCGACCCTGGGAAAGGACTGTGAAATGTACAAGCACCGCATGAACACGGTCATGCTGCAGCTGGAGGAGGTGGAGCGGGAGCGGGACCAGGCCTTCCACTCC
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>CARD11|84433|protein
MPGGGPEMDDYMETLKDEEDALWENVECNRHMLSRYINPAKLTPYLRQCKVIDEQDEDEVLNAPMLPSKINRAGRLLDILHTKGQRGYVVFLESLEFYYPELYKL
VTGKEPTRRFSTIVVEEGHEGLTHFLMNEVIKLQQQMKAKDLQRCELLARLRQLEDEKKQMTLTRVELLTFQERYYKMKEERDSYNDELVKVKDDNYNLAMRYAQ
LSEEKNMAVMRSRDLQLEIDQLKHRLNKMEEECKLERNQSLKLKNDIENRPKKEQVLELERENEMLKTKNQELQSIIQAGKRSLPDSDKAILDILEHDRKEALED
RQELVNRIYNLQEEARQAEELRDKYLEEKEDLELKCSTLGKDCEMYKHRMNTVMLQLEEVERERDQAFHSRDEAQTQYSQCLIEKDKYRKQIRELEEKNDEMRIE
MVRREACIVNLESKLRRLSKDSNNLDQSLPRNLPVTIISQDFGDASPRTNGQEADDSSTSEESPEDSKYFLPYHPPQRRMNLKGIQLQRAKSPISLKRTSDFQAK
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top