AutismKB 2.0

Evidence Details for RPS19BP1


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Basic Information Top
Gene Symbol:RPS19BP1 ( AROS,FLJ21770,MGC52010,S19BP,dJ1104E15.4 )
Gene Full Name: ribosomal protein S19 binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:91582; OMIM: 610225; Uniprot ID:AROS_HUMAN; ENSEMBL ID: ENSG00000187051; HGNC ID: 28749
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RPS19BP1|91582|nucleotide
ATGTCCGCCGCCCTGCTGCGGCGGGGCCTGGAGCTGCTGGCGGCGTCCGAGGCCCCCCGGGACCCTCCAGGTCAGGCCAAGCCGAGAGGGGCTCCGGTGAAACGG
CCCCGGAAGACGAAGGCAATTCAGGCCCAGAAACTGCGGAACTCGGCCAAGGGAAAGGTGCCCAAGTCGGCACTGGACGAGTACCGGAAGCGAGAGTGTCGAGAC
CACCTCAGAGTAAACCTGAAGTTTCTGACCAGGACGAGAAGCACCGTGGCTGAGTCTGTGAGCCAGCAGATTTTGCGCCAGAACCGGGGCCGCAAGGCCTGTGAC
CGGCCTGTGGCCAAGACCAAGAAGAAGAAGGCTGAGGGCACCGTGTTCACCGAGGAAGACTTCCAGAAGTTCCAGCAGGAATACTTCGGCAGCTAG







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>RPS19BP1|91582|protein
MSAALLRRGLELLAASEAPRDPPGQAKPRGAPVKRPRKTKAIQAQKLRNSAKGKVPKSALDEYRKRECRDHLRVNLKFLTRTRSTVAESVSQQILRQNRGRKACD
RPVAKTKKKKAEGTVFTEEDFQKFQQEYFGS



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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 (0) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top