AutismKB 2.0

Evidence Details for PRR5


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Basic Information Top
Gene Symbol:PRR5 ( FLJ20185,FLJ20185k,PP610,PROTOR-1,PROTOR1 )
Gene Full Name: proline rich 5 (renal)
Band: 22q13.31
Quick LinksEntrez ID:55615; OMIM: 609406; Uniprot ID:PRR5_HUMAN; ENSEMBL ID: ENSG00000186654; HGNC ID: 31682
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRR5|55615|nucleotide
ATGAGTTCGCCCAGCCTCAGTGACCTGGGCAAGAGAGAGCCGGCCGCCGCCGCGGACGAGCGGGGCACGCAGCAGCGCCGGGCCTGCGCCAACGCCACCTGGAAC
AGCATCCACAACGGGGTGATCGCCGTCTTCCAGCGCAAGGGGCTGCCCGACCAGGAGCTCTTCAGCCTCAACGAGGGCGTCCGGCAGCTGTTGAAGACAGAGCTG
GGGTCCTTCTTCACGGAGTACCTGCAGAACCAGCTGCTGACAAAAGGCATGGTGATCCTTCGGGACAAGATTCGCTTCTATGAGGGACAGAAGCTGCTGGACTCA
CTGGCAGAGACCTGGGACTTCTTCTTCAGTGACGTGCTGCCCATGCTGCAGGCCATCTTCTACCCGGTGCAGGGCAAGGAGCCATCGGTGCGCCAGCTGGCCCTG
CTGCACTTCCGGAATGCCATCACCCTCAGTGTGAAGCTAGAGGATGCGCTGGCCCGGGCCCATGCCCGTGTGCCCCCTGCCATCGTGCAGATGCTGCTGGTGCTG
CAGGGGGTACATGAGTCCAGGGGCGTGACTGAGGACTACCTGCGCCTGGAGACGCTGGTCCAGAAGGTGGTGTCGCCATACCTGGGCACCTACGGCCTCCACTCC
AGCGAGGGGCCCTTCACCCATTCCTGCATCCTGGAAAAGCGCCTCCTCCGCCGCTCCCGCTCGGGGGACGTGCTGGCCAAGAACCCTGTGGTGCGCTCCAAGAGC
TACAACACGCCTCTGCTGAACCCCGTGCAGGAGCACGAGGCGGAGGGCGCGGCGGCCGGCGGTACCAGCATCCGCAGGCACTCTGTGTCGGAGATGACGTCCTGC
CCCGAGCCTCAGGGCTTCTCCGACCCGCCCGGCCAGGGCCCCACCGGGACCTTCAGGTCCTCCCCGGCGCCCCACTCAGGGCCCTGCCCCAGCAGACTGTACCCC
ACGACCCAGCCCCCTGAGCAGGGCTTGGATCCCACCCGCAGCTCCCTGCCCCGCTCCAGCCCGGAGAACCTGGTGGACCAGATCCTGGAGTCCGTGGACTCGGAT
TCTGAAGGGATTTTCATTGACTTTGGCCGGGGCCGGGGCTCTGGCATGTCCGACTTGGAGGGCTCTGGGGGCCGGCAGAGTGTCGTGTGA
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>PRR5|55615|protein
MSSPSLSDLGKREPAAAADERGTQQRRACANATWNSIHNGVIAVFQRKGLPDQELFSLNEGVRQLLKTELGSFFTEYLQNQLLTKGMVILRDKIRFYEGQKLLDS
LAETWDFFFSDVLPMLQAIFYPVQGKEPSVRQLALLHFRNAITLSVKLEDALARAHARVPPAIVQMLLVLQGVHESRGVTEDYLRLETLVQKVVSPYLGTYGLHS
SEGPFTHSCILEKRLLRRSRSGDVLAKNPVVRSKSYNTPLLNPVQEHEAEGAAAGGTSIRRHSVSEMTSCPEPQGFSDPPGQGPTGTFRSSPAPHSGPCPSRLYP
TTQPPEQGLDPTRSSLPRSSPENLVDQILESVDSDSEGIFIDFGRGRGSGMSDLEGSGGRQSVV

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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) 2 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018