AutismKB 2.0

Evidence Details for CARD10


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Basic Information Top
Gene Symbol:CARD10 ( BIMP1,CARMA3,MGC142219 )
Gene Full Name: caspase recruitment domain family, member 10
Band: 22q13.1
Quick LinksEntrez ID:29775; OMIM: 607209; Uniprot ID:CAR10_HUMAN; ENSEMBL ID: ENSG00000100065; HGNC ID: 16422
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CARD10|29775|nucleotide
ATGCCGGGCCGGGCGGAGGCGGGGGAGGCCGAGGAGGAGGCCGGGGCCGGCTCGGGGTCTGAGGCGGAGGAGGACGCGCTGTGGGAGCGAATCGAGGGCGTCCGG
CATCGGCTGGCTCGCGCCCTGAACCCGGCCAAGCTCACGCCGTATCTGCGCCAGTGCCGGGTCATCGACGAGCAGGACGAGGAGGAGGTGCTGAGCACCTACCGC
TTCCCGTGCCGCGTCAACCGCACCGGGCGCCTGATGGACATCTTGCGCTGCCGTGGCAAGAGGGGCTATGAGGCCTTCCTGGAAGCCCTGGAGTTCTACTACCCC
GAACACTTCACGCTGCTCACGGGCCAGGAACCCGCCCAGCGCTGCTCCATGATCCTCGATGAGGAGGGGCCTGAGGGCCTGACCCAATTCTTGATGACAGAGGTG
CGACGGCTGCGGGAAGCTCGCAAGAGCCAGCTGCAGCGGGAGCAGCAACTGCAGGCCCGGGGCCGGGTGCTCGAGGAGGAGCGGGCAGGGCTGGAGCAGCGGCTG
CGGGACCAGCAGCAGGCTCAGGAGCGCTGTCAACGGCTGCGGGAGGACTGGGAGGCGGGCAGCCTGGAGCTGCTGCGGCTCAAGGATGAGAACTACATGATCGCC
ATGCGCCTGGCACAGCTCAGTGAGGAGAAGAACTCGGCTGTACTTCGCAGCCGTGACCTGCAGCTGGCGGTGGATCAGCTCAAGCTCAAAGTGAGTCGGCTGGAG
GAAGAGTGTGCACTGCTTCGAAGGGCCAGGGGCCCGCCCCCTGGGGCAGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGCCAGACAATGTGGACCTTGTC
TCTGAGCTGCGTGCTGAGAACCAGCGGCTGACGGCGTCACTGCGGGAGTTGCAGGAGGGCCTGCAGCAGGAGGCGAGCCGGCCGGGGGCCCCGGGCTCCGAGCGC
ATCCTGCTGGACATCCTAGAGCATGACTGGCGGGAGGCGCAGGACAGCAGGCAGGAGCTGTGCCAGAAGCTGCATGCCGTGCAGGGGGAGCTGCAGTGGGCCGAG
GAGCTGCGCGACCAGTACCTGCAGGAGATGGAAGACCTGCGGCTCAAGCACCGCACGCTGCAGAAGGACTGTGACCTGTACAAGCACCGCATGGCCACTGTCCTG
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>CARD10|29775|protein
MPGRAEAGEAEEEAGAGSGSEAEEDALWERIEGVRHRLARALNPAKLTPYLRQCRVIDEQDEEEVLSTYRFPCRVNRTGRLMDILRCRGKRGYEAFLEALEFYYP
EHFTLLTGQEPAQRCSMILDEEGPEGLTQFLMTEVRRLREARKSQLQREQQLQARGRVLEEERAGLEQRLRDQQQAQERCQRLREDWEAGSLELLRLKDENYMIA
MRLAQLSEEKNSAVLRSRDLQLAVDQLKLKVSRLEEECALLRRARGPPPGAEEKEKEKEKEKEPDNVDLVSELRAENQRLTASLRELQEGLQQEASRPGAPGSER
ILLDILEHDWREAQDSRQELCQKLHAVQGELQWAEELRDQYLQEMEDLRLKHRTLQKDCDLYKHRMATVLAQLEEIEKERDQAIQSRDRIQLQYSQSLIEKDQYR
KQVRGLEAERDELLTTLTSLEGTKALLEVQLQRAQGGTCLKACASSHSLCSNLSSTWSLSEFPSPLGGPEATGEAAVMGGPEPHNSEEATDSEKEINRLSILPFP
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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 (2) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top