AutismKB 2.0

Evidence Details for CBL


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Basic Information Top
Gene Symbol:CBL ( C-CBL,CBL2,RNF55 )
Gene Full Name: Cas-Br-M (murine) ecotropic retroviral transforming sequence
Band: 11q23.3
Quick LinksEntrez ID:867; OMIM: 165360; Uniprot ID:CBL_HUMAN; ENSEMBL ID: ENSG00000110395; HGNC ID: 1541
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CBL|867|nucleotide
ATGGCCGGCAACGTGAAGAAGAGCTCTGGGGCCGGGGGCGGCAGCGGCTCCGGGGGCTCGGGTTCGGGTGGCCTGATTGGGCTCATGAAGGACGCCTTCCAGCCG
CACCACCACCACCACCACCACCTCAGCCCCCACCCGCCGGGGACGGTGGACAAGAAGATGGTGGAGAAGTGCTGGAAGCTCATGGACAAGGTGGTGCGGTTGTGT
CAGAACCCAAAGCTGGCGCTAAAGAATAGCCCACCTTATATCTTAGACCTGCTACCAGATACCTACCAGCATCTCCGTACTATCTTGTCAAGATATGAGGGGAAG
ATGGAGACACTTGGAGAAAATGAGTATTTTAGGGTGTTTATGGAGAATTTGATGAAGAAAACTAAGCAAACCATAAGCCTCTTCAAGGAGGGAAAAGAAAGAATG
TATGAGGAGAATTCTCAGCCTAGGCGAAACCTAACCAAACTGTCCCTCATCTTCAGCCACATGCTGGCAGAACTAAAAGGAATCTTTCCAAGTGGACTCTTTCAG
GGAGACACATTTCGGATTACTAAAGCAGATGCTGCGGAATTTTGGAGAAAAGCTTTTGGGGAAAAGACAATAGTCCCTTGGAAGAGCTTTCGACAGGCTCTACAT
GAAGTGCATCCCATCAGTTCTGGGCTGGAGGCCATGGCTCTGAAATCCACTATTGATCTGACCTGCAATGATTATATTTCGGTTTTTGAATTTGACATCTTTACC
CGACTCTTTCAGCCCTGGTCCTCTTTGCTCAGGAATTGGAACAGCCTTGCTGTAACTCATCCTGGCTACATGGCTTTTTTGACGTATGACGAAGTGAAAGCTCGG
CTCCAGAAATTCATTCACAAACCTGGCAGTTATATCTTCCGGCTGAGCTGTACTCGTCTGGGTCAGTGGGCTATTGGGTATGTTACTGCTGATGGGAACATTCTC
CAGACAATCCCTCACAATAAACCTCTCTTCCAAGCACTGATTGATGGCTTCAGGGAAGGCTTCTATTTGTTTCCTGATGGACGAAATCAGAATCCTGATCTGACT
GGCTTATGTGAACCAACTCCCCAAGACCATATCAAAGTGACCCAGGAACAATATGAATTATACTGTGAGATGGGCTCCACATTCCAACTATGTAAAATATGTGCT
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>CBL|867|protein
MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNSPPYILDLLPDTYQHLRTILSRYEGK
METLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSHMLAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALH
EVHPISSGLEAMALKSTIDLTCNDYISVFEFDIFTRLFQPWSSLLRNWNSLAVTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNIL
QTIPHNKPLFQALIDGFREGFYLFPDGRNQNPDLTGLCEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLMCTSCLTSWQESEGQGCPFCR
CEIKGTEPIVVDPFDPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVERPPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASG
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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) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top