AutismKB 2.0

Evidence Details for PRB4


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Basic Information Top
Gene Symbol:PRB4 ( Po )
Gene Full Name: proline-rich protein BstNI subfamily 4
Band: 12p13.2
Quick LinksEntrez ID:5545; OMIM: 180990; Uniprot ID:PRB4_HUMAN; ENSEMBL ID: ENSG00000230657; HGNC ID: 9340
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRB4|5545|nucleotide
ATGCTGCTGATTCTGCTGTCAGTGGCCCTGCTGGCCCTGAGCTCAGCTGAGAGTTCAAGTGAAGATGTCAGCCAGGAAGAATCTCTCTTCCTAATATCAGGAAAG
CCAGAAGGACGACGCCCACAAGGAGGAAACCAGCCCCAACGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGAAACCAGTCCCAAGGT
CCCCCACCTCCTCCAGGAAAGCCAGAAGGACGACCCCCACAAGGAGGCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAAAGACCACCCCCACAA
GGAGGAAACCAGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGGCAACCAGTCCCACCGTCCCCCACCTCCTCCAGGAAAG
CCAGAAAGACCACCCCCACAAGGAGGTAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAAGGACCACCCCCACAGGAAGGAAACAAGTCCCGAAGT
GCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGAAGGCAACAAGCCTCAAGGTCCCCCACCTCCTGGAAAGCCACAAGGCCCACCCCCAGCAGGA
GGCAATCCCCAGCAGCCTCAGGCACCTCCTGCTGGAAAGCCCCAGGGGCCACCTCCACCTCCTCAAGGGGGCAGGCCACCCAGACCTGCCCAGGGACAACAGCCT
CCCCAGTAA



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>PRB4|5545|protein
MLLILLSVALLALSSAESSSEDVSQEESLFLISGKPEGRRPQGGNQPQRPPPPPGKPQGPPPQGGNQSQGPPPPPGKPEGRPPQGGNQSQGPPPHPGKPERPPPQ
GGNQSQGTPPPPGKPERPPPQGGNQSHRPPPPPGKPERPPPQGGNQSQGPPPHPGKPEGPPPQEGNKSRSARSPPGKPQGPPQQEGNKPQGPPPPGKPQGPPPAG
GNPQQPQAPPAGKPQGPPPPPQGGRPPRPAQGQQPPQ


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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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top