AutismKB 2.0

Evidence Details for BZRAP1


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Basic Information Top
Gene Symbol:BZRAP1 ( DKFZp686F02123,KIAA0612,PRAX-1,PRAX1,RIM-BP1,RIMBP1 )
Gene Full Name: benzodiazapine receptor (peripheral) associated protein 1
Band: 17q22-q23
Quick LinksEntrez ID:9256; OMIM: 610764; Uniprot ID:RIMB1_HUMAN; ENSEMBL ID: ENSG00000005379; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BZRAP1|9256|nucleotide
ATGGAGCAACTGACAACCCTCCCACGGCCTGGGGACCCTGGAGCCATGGAGCCATGGGCACTGCCCACCTGGCATAGCTGGACTCCAGGTCGAGGGGGTGAACCT
AGCAGTGCAGCCCCAAGCATCGCTGATACTCCTCCGGCAGCTCTGCAGCTTCAAGAACTGAGGTCTGAGGAGAGTTCCAAGCCCAAAGGAGACGGGAGCTCCAGG
CCCGTGGGGGGAACTGACCCTGAAGGAGCAGAGGCTTGTCTGCCCAGCCTGGGCCAGCAAGCATCCAGCTCTGGACCCGCCTGCCAGAGGCCAGAGGATGAGGAA
GTGGAGGCTTTCCTGAAGGCCAAGCTGAATATGAGCTTTGGGGACAGGCCCAATCTGGAGCTGCTGAGGGCCCTGGGGGAGCTGCGGCAGCGCTGTGCCATCCTT
AAGGAGGAAAACCAGATGCTGAGGAAGAGCAGCTTCCCTGAGACAGAAGAGAAGGTGCGGAGGCTGAAGAGGAAGAACGCCGAGCTGGCGGTCATTGCCAAGCGC
CTGGAGGAGAGGGCCCGAAAGCTGCAGGAAACGAACCTGAGGGTGGTGAGTGCCCCCTTGCCCCGGCCGGGGACCAGCTTGGAGTTGTGTCGGAAGGCCCTAGCC
CGCCAGCGAGCCCGGGACCTCAGTGAGACAGCCAGTGCACTGCTGGCCAAGGACAAGCAGATTGCTGCCTTGCAGCGGGAGTGCAGGGAGCTGCAGGCCAGGCTC
ACTCTGGTGGGCAAGGAGGGTCCCCAGTGGCTCCACGTGCGGGACTTCGATCGGCTGCTGCGCGAGTCCCAGCGGGAGGTGCTGCGGCTGCAGAGGCAGATCGCG
CTGCGCAACCAGCGGGAGACGCTCCCGCTCCCGCCGTCCTGGCCCCCGGGCCCTGCTCTCCAGGCCAGAGCAGGGGCGCCTGCTCCCGGGGCCCCGGGAGAGGCC
ACGCCCCAGGAGGATGCGGACAACCTACCCGTGATTCTAGGGGAGCCAGAGAAAGAGCAGAGGGTGCAGCAGCTGGAATCGGAGCTCAGCAAGAAGCGGAAGAAA
TGCGAGAGCCTGGAGCAGGAAGCCCGGAAAAAGCAGAGGCGATGTGAGGAGCTGGAACTGCAGCTGAGACAAGCGCAGAATGAGAATGCCCGCCTGGTGGAGGAG
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>BZRAP1|9256|protein
MEQLTTLPRPGDPGAMEPWALPTWHSWTPGRGGEPSSAAPSIADTPPAALQLQELRSEESSKPKGDGSSRPVGGTDPEGAEACLPSLGQQASSSGPACQRPEDEE
VEAFLKAKLNMSFGDRPNLELLRALGELRQRCAILKEENQMLRKSSFPETEEKVRRLKRKNAELAVIAKRLEERARKLQETNLRVVSAPLPRPGTSLELCRKALA
RQRARDLSETASALLAKDKQIAALQRECRELQARLTLVGKEGPQWLHVRDFDRLLRESQREVLRLQRQIALRNQRETLPLPPSWPPGPALQARAGAPAPGAPGEA
TPQEDADNLPVILGEPEKEQRVQQLESELSKKRKKCESLEQEARKKQRRCEELELQLRQAQNENARLVEENSRLSGRATEKEQVEWENAELRGQLLGVTQERDSA
LRKSQGLQSKLESLEQVLKHMREVAQRRQQLEVEHEQARLSLREKQEEVRRLQQAQAEAQREHEGAVQLLESTLDSMQARVRELEEQCRSQTEQFSLLAQELQAF
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top