AutismKB 2.0

Evidence Details for RHOBTB2


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Basic Information Top
Gene Symbol:RHOBTB2 ( DBC2,KIAA0717 )
Gene Full Name: Rho-related BTB domain containing 2
Band: 8p21.3
Quick LinksEntrez ID:23221; OMIM: 607352; Uniprot ID:RHBT2_HUMAN; ENSEMBL ID: ENSG00000008853; HGNC ID: 18756
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RHOBTB2|23221|nucleotide
ATGCAAGCCTGGAGAAAAGGCCCCGATGGCCCCCAGAAGACCTCTTCAGACAGCATGTCCCGTTTAATGGATTCTGACATGGATTATGAAAGGCCAAACGTAGAG
ACCATCAAGTGCGTTGTGGTGGGGGACAACGCCGTGGGTAAGACCAGGCTCATCTGTGCCCGCGCTTGCAATGCCACCCTCACCCAGTACCAGCTGCTGGCCACG
CATGTGCCCACAGTATGGGCCATCGACCAATATCGTGTGTGCCAGGAGGTGCTGGAACGCTCCCGAGACGTGGTAGATGATGTCAGCGTCTCTCTGCGCCTCTGG
GACACCTTTGGAGACCACCACAAAGACCGTCGCTTTGCTTATGGGAGATCTGATGTGGTGGTTCTGTGCTTCTCCATTGCCAACCCCAATTCCCTCCACCATGTC
AAGACCATGTGGTACCCAGAAATCAAGCACTTCTGCCCCCGAGCACCTGTCATCTTGGTGGGCTGCCAGTTGGACCTGCGCTACGCTGACCTGGAGGCTGTCAAC
AGGGCTAGGCGACCCTTGGCTAGGCCCATCAAACCTAATGAAATCCTGCCCCCAGAGAAGGGTCGGGAGGTGGCCAAGGAGCTGGGCATCCCCTACTATGAGACC
AGCGTGGTGGCCCAGTTCGGCATCAAGGACGTCTTTGACAACGCCATCCGAGCTGCACTCATCTCCCGCCGCCACCTGCAGTTCTGGAAGTCCCACCTCCGCAAT
GTGCAGCGGCCTCTGCTGCAGGCACCCTTCCTACCCCCCAAGCCACCGCCCCCGATCATCGTGGTGCCCGACCCTCCCTCCAGCAGCGAGGAGTGCCCCGCCCAC
CTCCTGGAGGACCCGCTCTGCGCGGACGTCATCCTGGTGCTGCAGGAGCGGGTGCGCATCTTTGCCCACAAGATCTACCTCTCCACCTCTTCCTCCAAGTTCTAT
GACCTGTTCCTCATGGACCTGAGTGAGGGGGAGCTGGGGGGCCCCTCGGAGCCAGGGGGCACCCACCCAGAGGACCACCAGGGCCACTCTGATCAACACCACCAC
CATCACCACCACCACCATGGGCGAGACTTCCTGCTCCGAGCAGCCAGCTTTGACGTGTGCGAGAGCGTGGATGAGGCTGGGGGCTCCGGTCCTGCTGGCCTCCGT
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>RHOBTB2|23221|protein
MQAWRKGPDGPQKTSSDSMSRLMDSDMDYERPNVETIKCVVVGDNAVGKTRLICARACNATLTQYQLLATHVPTVWAIDQYRVCQEVLERSRDVVDDVSVSLRLW
DTFGDHHKDRRFAYGRSDVVVLCFSIANPNSLHHVKTMWYPEIKHFCPRAPVILVGCQLDLRYADLEAVNRARRPLARPIKPNEILPPEKGREVAKELGIPYYET
SVVAQFGIKDVFDNAIRAALISRRHLQFWKSHLRNVQRPLLQAPFLPPKPPPPIIVVPDPPSSSEECPAHLLEDPLCADVILVLQERVRIFAHKIYLSTSSSKFY
DLFLMDLSEGELGGPSEPGGTHPEDHQGHSDQHHHHHHHHHGRDFLLRAASFDVCESVDEAGGSGPAGLRASTSDGILRGNGTGYLPGRGRVLSSWSRAFVSIQE
EMAEDPLTYKSRLMVVVKMDSSIQPGPFRAVLKYLYTGELDENERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITKAFHVRRTNRVKECLAKGTFSDVT
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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 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 4 (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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top