AutismKB 2.0

Evidence Details for RRP36


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Basic Information Top
Gene Symbol:RRP36 ( C6orf153,dJ20C7.4 )
Gene Full Name: ribosomal RNA processing 36 homolog (S. cerevisiae)
Band: 6p21.1
Quick LinksEntrez ID:88745; OMIM: 613475; Uniprot ID:RRP36_HUMAN; ENSEMBL ID: ENSG00000124541; HGNC ID: 21374
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RRP36|88745|nucleotide
ATGCCGGGAGCTAACTACCGCGCCGGGGCCGGGGCCGGGGCCGGGGCCCGACGTCCCCGCGGGGCCCGGGACCGCGAGGAGGACGGCGGGGGCCTGGAGCCCGCG
GCCGTGGCCCGCGACCTATTGAGGGGCACATCTAACATGTCATTTGAGGAGCTGTTGGAATTGCAGAGCCAAGTGGGGACTAAGACGTACAAACAATTGGTAGCT
GGAAATAGTCCTAAGAAACAAGCTTCTAGACCACCTATCCAAAATGCATGTGTTGCAGATAAGCACAGGCCTCTGGAAATGTCAGCCAAGATCCGAGTACCATTT
TTACGTCAGGTTGTTCCCATTAGTAAAAAGGTAGCCCGGGACCCTCGCTTTGATGATCTGTCAGGGGAATATAATCCTGAGGTGTTTGACAAAACATACCAATTC
TTGAATGACATCCGAGCGAAAGAGAAAGAGCTTGTGAAAAAACAGTTGAAGAAGCACCTTTCAGGAGAGGAGCATGAGAAACTGCAGCAACTGCTTCAGCGAATG
GAGCAGCAAGAAATGGCACAGCAGGAACGAAAGCAACAGCAGGAGCTGCACCTGGCCCTGAAGCAAGAACGTCGGGCTCAGGCCCAGCAGGGCCATCGGCCATAC
TTCCTGAAAAAATCTGAGCAGCGCCAGTTGGCACTAGCTGAGAAGTTCAAGGAGCTGAAACGCAGCAAGAAATTGGAGAACTTCTTGAGTCGAAAGAGGCGACGA
AATGCAGGCAAGGACAGGAGACATCTCCCTTTGAGCAAAGAGTAA



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>RRP36|88745|protein
MPGANYRAGAGAGAGARRPRGARDREEDGGGLEPAAVARDLLRGTSNMSFEELLELQSQVGTKTYKQLVAGNSPKKQASRPPIQNACVADKHRPLEMSAKIRVPF
LRQVVPISKKVARDPRFDDLSGEYNPEVFDKTYQFLNDIRAKEKELVKKQLKKHLSGEEHEKLQQLLQRMEQQEMAQQERKQQQELHLALKQERRAQAQQGHRPY
FLKKSEQRQLALAEKFKELKRSKKLENFLSRKRRRNAGKDRRHLPLSKE


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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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top