AutismKB 2.0

Evidence Details for RB1CC1


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Basic Information Top
Gene Symbol:RB1CC1 ( CC1,FIP200 )
Gene Full Name: RB1-inducible coiled-coil 1
Band: 8q11.23
Quick LinksEntrez ID:9821; OMIM: 606837; Uniprot ID:RBCC1_HUMAN; ENSEMBL ID: ENSG00000023287; HGNC ID: 15574
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RB1CC1|9821|nucleotide
ATGAAGTTATATGTATTTCTGGTTAACACTGGAACTACTCTAACATTTGACACTGAACTTACAGTGCAAACTGTGGCAGACCTTAAGCATGCCATTCAAAGCAAA
TACAAGATTGCTATTCAACACCAGGTGCTGGTGGTCAATGGAGGAGAATGCATGGCTGCAGATCGAAGAGTGTGTACCTACAGTGCTGGGACGGATACAAATCCA
ATTTTTCTTTTTAACAAAGAAATGATCTTATGTGATCGTCCACCTGCTATTCCTAAAACTACCTTTTCGACAGAAAATGACATGGAAATAAAAGTTGAAGAATCT
CTTATGATGCCTGCAGTTTTTCATACTGTTGCTTCAAGGACACAGCTTGCATTGGAAATGTATGAAGTTGCCAAGAAACTTTGTTCTTTTTGTGAAGGTCTTGTA
CATGATGAACATCTTCAACACCAAGGCTGGGCTGCAATCATGGCCAACCTGGAGGACTGTTCAAATTCATACCAAAAGCTACTTTTCAAGTTTGAAAGTATTTAT
TCAAATTATCTGCAGTCCATAGAAGACATCAAGTTAAAACTTACTCATTTAGGAACTGCAGTTTCAGTAATGGCCAAGATTCCACTGTTGGAGTGCCTAACCAGA
CATAGTTACAGAGAATGTTTGGGAAGACTGGATTCTTTACCTGAACATGAAGACTCAGAAAAAGCTGAGATGAAAAGATCCACTGAACTGGTGCTCTCTCCTGAT
ATGCCTAGAACAACTAACGAATCTTTGTTAACCTCATTTCCCAAGTCAGTGGAACATGTGTCCCCAGATACCGCAGATGCTGAAAGTGGCAAAGAAATTAGGGAA
TCTTGTCAAAGTACTGTTCATCAGCAAGATGAAACTACGATTGACACTAAAGATGGTGATCTGCCCTTTTTTAATGTCTCTTTGTTAGACTGGATAAATGTTCAA
GATAGACCTAATGATGTGGAATCTTTGGTCAGGAAGTGCTTTGATTCTATGAGCAGGCTTGATCCAAGGATTATTCGACCATTTATAGCAGAATGCCGTCAAACT
ATTGCCAAACTTGATAATCAGAATATGAAAGCCATTAAAGGACTTGAAGATCGGCTCTACGCCCTGGACCAGATGATTGCTAGCTGTGGCCGACTGGTGAATGAA
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>RB1CC1|9821|protein
MKLYVFLVNTGTTLTFDTELTVQTVADLKHAIQSKYKIAIQHQVLVVNGGECMAADRRVCTYSAGTDTNPIFLFNKEMILCDRPPAIPKTTFSTENDMEIKVEES
LMMPAVFHTVASRTQLALEMYEVAKKLCSFCEGLVHDEHLQHQGWAAIMANLEDCSNSYQKLLFKFESIYSNYLQSIEDIKLKLTHLGTAVSVMAKIPLLECLTR
HSYRECLGRLDSLPEHEDSEKAEMKRSTELVLSPDMPRTTNESLLTSFPKSVEHVSPDTADAESGKEIRESCQSTVHQQDETTIDTKDGDLPFFNVSLLDWINVQ
DRPNDVESLVRKCFDSMSRLDPRIIRPFIAECRQTIAKLDNQNMKAIKGLEDRLYALDQMIASCGRLVNEQKELAQGFLANQKRAENLKDASVLPDLCLSHANQL
MIMLQNHRKLLDIKQKCTTAKQELANNLHVRLKWCCFVMLHADQDGEKLQALLRLVIELLERVKIVEALSTVPQMYCLAVVEVVRRKMFIKHYREWAGALVKDGK
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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 (4) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top