AutismKB 2.0

Evidence Details for CABIN1


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Basic Information Top
Gene Symbol:CABIN1 ( CAIN,KIAA0330,PPP3IN )
Gene Full Name: calcineurin binding protein 1
Band: 22q11.23
Quick LinksEntrez ID:23523; OMIM: 604251; Uniprot ID:CABIN_HUMAN; ENSEMBL ID: ENSG00000099991; HGNC ID: 24187
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CABIN1|23523|nucleotide
ATGATTCGAATTGCAGCCTTAAATGCCAGCTCCACCATTGAGGATGATCATGAAGGAAGCTTTAAAAGTCACAAAACCCAGACAAAGGAGGCTCAGGAAGCAGAG
GCTTTTGCATTGTACCACAAGGCCCTTGATCTGCAGAAACATGACCGGTTTGAGGAGTCTGCCAAAGCCTACCATGAGCTCTTGGAGGCGAGCCTGCTGCGGGAG
GCAGTTTCATCCGGTGATGAGAAAGAGGGGTTGAAACACCCTGGGCTGATACTGAAATATTCCACTTATAAGAACTTGGCCCAGCTGGCAGCCCAGCGGGAGGAT
CTGGAGACAGCCATGGAGTTCTACTTAGAGGCAGTGATGCTGGACTCCACAGATGTCAACCTCTGGTATAAGATTGGACATGTGGCCCTGAGGCTCATCCGGATC
CCCCTGGCTCGCCATGCTTTTGAGGAAGGGCTGCGGTGCAATCCTGACCACTGGCCCTGTTTGGATAACCTAATCACTGTCCTGTACACCCTCAGTGATTACACA
ACATGTCTGTACTTCATCTGCAAAGCTTTGGAGAAGGATTGCCGGTACAGCAAAGGGCTGGTCCTCAAGGAGAAGATTTTTGAGGAGCAGCCTTGTCTCCGGAAG
GACTCTCTCAGAATGTTCCTCAAATGTGACATGTCGATTCACGATGTTTCGGTGAGTGCAGCTGAGACACAGGCGATTGTAGATGAGGCCTTGGGGCTGCGAAAA
AAGAGGCAAGCGCTGATTGTGCGGGAGAAGGAGCCGGACCTGAAACTTGTGCAGCCCATTCCTTTCTTCACCTGGAAGTGCCTCGGAGAGAGCTTGCTGGCCATG
TACAATCATCTCACCACCTGTGAGCCCCCACGTCCCAGCCTTGGCAAAAGGATTGATTTGTCGGACTACCAGGACCCCAGCCAGCCTCTTGAGTCCTCCATGGTG
GTGACGCCAGTTAACGTGATCCAGCCAAGCACTGTCAGCACCAACCCAGCTGTGGCTGTCGCCGAGCCTGTGGTCTCCTACACCTCTGTGGCTACAACCAGCTTC
CCACTGCACAGTCCTGGTCTGTTGGAGACAGGCGCTCCTGTGGGTGATATTTCTGGGGGAGATAAATCCAAGAAAGGGGTAAAACGGAAGAAGATTTCAGAAGAG
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>CABIN1|23523|protein
MIRIAALNASSTIEDDHEGSFKSHKTQTKEAQEAEAFALYHKALDLQKHDRFEESAKAYHELLEASLLREAVSSGDEKEGLKHPGLILKYSTYKNLAQLAAQRED
LETAMEFYLEAVMLDSTDVNLWYKIGHVALRLIRIPLARHAFEEGLRCNPDHWPCLDNLITVLYTLSDYTTCLYFICKALEKDCRYSKGLVLKEKIFEEQPCLRK
DSLRMFLKCDMSIHDVSVSAAETQAIVDEALGLRKKRQALIVREKEPDLKLVQPIPFFTWKCLGESLLAMYNHLTTCEPPRPSLGKRIDLSDYQDPSQPLESSMV
VTPVNVIQPSTVSTNPAVAVAEPVVSYTSVATTSFPLHSPGLLETGAPVGDISGGDKSKKGVKRKKISEESGETAKRRSARVRNTKCKKEEKVDFQELLMKFLPS
RLRKLDPEEEDDSFNNYEVQSEAKLESFPSIGPQRLSFDSATFMESEKQDVHEFLLENLTNGGILELMMRYLKAMGHKFLVRWPPGLAEVVLSVYHSWRRHSTSL
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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) 2 (7) 0 (0) 0 (0) 1 (1) 1 (1) 0 (0) 0 (1) 0 (0) 15 (10)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Ramelli, 2008 - FISHASD - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top