AutismKB 2.0

Evidence Details for PRR5-ARHGAP8


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Basic Information Top
Gene Symbol:PRR5-ARHGAP8 ( - )
Gene Full Name: PRR5-ARHGAP8 readthrough
Band: 22q13.31
Quick LinksEntrez ID:553158; OMIM: NA; Uniprot ID:F8W6F3_HUMAN; ENSEMBL ID: ENSG00000248405; HGNC ID: 34512
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PRR5-ARHGAP8|553158|nucleotide
ATGAGTTCGCCCAGCCTCAGTGACCTGGGCAAGAGAGAGCCGGCCGCCGCCGCGGACGAGCGGGGCACGCAGCAGCGCCGGGCCTGCGCCAACGCCACCTGGAAC
AGCATCCACAACGGGGTGATCGCCGTCTTCCAGCGCAAGGGGCTGCCCGACCAGGAGCTCTTCAGCCTCAACGAGGGCGTCCGGCAGCTGTTGAAGACAGAGCTG
GGGTCCTTCTTCACGGAGTACCTGCAGAACCAGCTGCTGACAAAAGGCATGGTGATCCTTCGGGACAAGATTCGCTTCTATGAGGAGCTGCAGAGAGACAAGGCG
GCGGCGGCTGCTGTGCTGGGTGCAGTGAGGAAGAGGCCCTCGGTGGTGCCCATGGCTGGCCAGGATCCTGCGCTGAGCACGAGTCACCCGTTCTACGACGTGGCC
AGACATGGCATTCTGCAGGTGGCAGGGGATGACCGCTTTGGAAGACGTGTTGTCACGTTCAGCTGCTGCCGGATGCCACCCTCCCACGAGCTGGACCACCAGCGG
CTGCTGGAGTATTTGAAGTACACACTGGACCAATACGTTGAGAACGATTATACCATCGTCTATTTCCACTACGGGCTGAACAGCCGGAACAAGCCTTCCCTGGGC
TGGCTCCAGAGCGCATACAAGGAGTTCGATAGGAAGTACAAGAAGAACTTGAAGGCCCTCTACGTGGTGCACCCCACCAGCTTCATCAAGGTCCTGTGGAACATC
TTGAAGCCCCTCATCAGTCACAAGTTTGGGAAGAAAGTCATCTATTTCAACTACCTGAGTGAGCTCCACGAACACCTTAAATACGACCAGCTGGTCATCCCTCCC
GAAGTTTTGCGGTACGATGAGAAGCTCCAGAGCCTGCACGAGGGCCGGACGCCGCCTCCCACCAAGACACCACCGCCGCGGCCCCCGCTGCCCACACAGCAGTTT
GGCGTCAGTCTGCAATACCTCAAAGACAAAAATCAAGGCGAACTCATCCCCCCTGTGCTGAGGTTCACAGTGACGTACCTGAGAGAGAAAGGCCTGCGCACCGAG
GGCCTGTTCCGGAGATCCGCCAGCGTGCAGACCGTCCGCGAGATCCAGAGGCTCTACAACCAAGGGAAGCCCGTGAACTTTGACGACTACGGGGACATTCACATC
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>PRR5-ARHGAP8|553158|protein
MSSPSLSDLGKREPAAAADERGTQQRRACANATWNSIHNGVIAVFQRKGLPDQELFSLNEGVRQLLKTELGSFFTEYLQNQLLTKGMVILRDKIRFYEELQRDKA
AAAAVLGAVRKRPSVVPMAGQDPALSTSHPFYDVARHGILQVAGDDRFGRRVVTFSCCRMPPSHELDHQRLLEYLKYTLDQYVENDYTIVYFHYGLNSRNKPSLG
WLQSAYKEFDRKYKKNLKALYVVHPTSFIKVLWNILKPLISHKFGKKVIYFNYLSELHEHLKYDQLVIPPEVLRYDEKLQSLHEGRTPPPTKTPPPRPPLPTQQF
GVSLQYLKDKNQGELIPPVLRFTVTYLREKGLRTEGLFRRSASVQTVREIQRLYNQGKPVNFDDYGDIHIPAVILKTFLRELPQPLLTFQAYEQILGITCVESSL
RVTGCRQILRSLPEHNYVVLRYLMGFLHAVSRESIFNKMNSSNLACVFGLNLIWPSQGVSSLSALVPLNMFTELLIEYYEKIFSTPEAPGEHGLAPWEQGSRAAP
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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

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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