AutismKB 2.0

Evidence Details for RCBTB2


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Basic Information Top
Gene Symbol:RCBTB2 ( CHC1L )
Gene Full Name: regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2
Band: 13q14.2
Quick LinksEntrez ID:1102; OMIM: 603524; Uniprot ID:RCBT2_HUMAN; ENSEMBL ID: ENSG00000136161; HGNC ID: 1914
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RCBTB2|1102|nucleotide
ATGGAAGAAGAACTTCCTCTTTTCTCTGGAGACAGTGGCAAGCCAGTACAGGCTACTCTGTCATCTTTGAAGATGTTAGATGTGGGAAAGTGGCCAATTTTTTCC
CTTTGTTCTGAAGAAGAACTACAGTTAATTCGTCAGGCTTGTGTCTTTGGCAGTGCTGGCAATGAAGTTTTATACACTACAGTAAATGATGAGATTTTTGTGCTT
GGCACAAACTGCTGTGGCTGTTTGGGGTTAGGTGACGTCCAGAGCACCATTGAACCTCGGAGACTGGATTCTTTAAATGGCAAAAAAATAGCCTGCCTCAGCTAT
GGGAGTGGTCCACATATTGTCCTTGCAACAACAGAAGGAGAAGTCTTTACCTGGGGTCATAATGCTTATAGCCAGCTGGGCAATGGGACAACTAATCATGGTTTA
GTGCCCTGTCATATCTCTACTAATCTGTCAAACAAACAAGTCATTGAAGTTGCCTGTGGGTCTTACCATTCTTTGGTGCTAACATCTGATGGAGAGGTATTTGCC
TGGGGTTATAATAACTCTGGGCAGGTAGGATCTGGATCAACAGTTAATCAGCCAATCCCTCGAAGAGTCACTGGCTGCCTACAAAATAAAGTAGTTGTGACCATA
GCATGTGGGCAGATGTGCTGCATGGCAGTAGTAGACACGGGGGAGGTCTATGTCTGGGGTTACAACGGAAACGGGCAGCTTGGACTCGGCAACAGTGGCAACCAG
CCAACCCCTTGCAGAGTGGCAGCTTTGCAAGGCATCCGTGTCCAGAGGGTCGCCTGTGGCTACGCACACACATTAGTATTAACAGATGAAGGCCAAGTGTATGCT
TGGGGCGCCAATTCTTATGGGCAGTTGGGCACTGGCAATAAAAGCAACCAGTCCTATCCTACTCCTGTCACTGTGGAAAAGGACAGGATTATCGAGATTGCAGCC
TGTCACTCCACACACACGTCTGCGGCCAAGACGCAGGGTGGGCACGTGTACATGTGGGGCCAGTGCCGGGGTCAGTCCGTGATCCTCCCGCACCTCACCCACTTC
TCCTGCACTGACGACGTGTTTGCCTGCTTTGCCACGCCCGCCGTCACGTGGCGCCTCCTCTCCGTGGAACCTGATGACCACCTCACAGTGGCTGAGTCACTGAAG
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>RCBTB2|1102|protein
MEEELPLFSGDSGKPVQATLSSLKMLDVGKWPIFSLCSEEELQLIRQACVFGSAGNEVLYTTVNDEIFVLGTNCCGCLGLGDVQSTIEPRRLDSLNGKKIACLSY
GSGPHIVLATTEGEVFTWGHNAYSQLGNGTTNHGLVPCHISTNLSNKQVIEVACGSYHSLVLTSDGEVFAWGYNNSGQVGSGSTVNQPIPRRVTGCLQNKVVVTI
ACGQMCCMAVVDTGEVYVWGYNGNGQLGLGNSGNQPTPCRVAALQGIRVQRVACGYAHTLVLTDEGQVYAWGANSYGQLGTGNKSNQSYPTPVTVEKDRIIEIAA
CHSTHTSAAKTQGGHVYMWGQCRGQSVILPHLTHFSCTDDVFACFATPAVTWRLLSVEPDDHLTVAESLKREFDNPDTADLKFLVDGKYIYAHKVLLKIRCEHFR
SSLEDNEDDIVEMSEFSYPVYRAFLEYLYTDSISLSPEEAVGLLDLATFYRENRLKKLCQQTIKQGICEENAIALLSAAVKYDAQDLEEFCFRFCINHLTVVTQT
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Steele, 2001 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Linkage Studies Top