AutismKB 2.0

Evidence Details for GPR98


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Basic Information Top
Gene Symbol:GPR98 ( DKFZp761P0710,FEB4,KIAA0686,MASS1,USH2B,USH2C,VLGR1,VLGR1b )
Gene Full Name: G protein-coupled receptor 98
Band: 5q13
Quick LinksEntrez ID:84059; OMIM: 602851; Uniprot ID:GPR98_HUMAN; ENSEMBL ID: ENSG00000164199; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPR98|84059|nucleotide
ATGTCGGTGTTCCTGGGGCCAGGGATGCCCTCTGCATCTTTATTAGTAAATCTTCTTTCAGCTTTACTCATCCTATTTGTGTTTGGAGAAACAGAAATAAGATTT
ACTGGACAAACTGAATTTGTTGTTAATGAAACAAGTACAACAGTTATTCGTCTTATCATTGAAAGGATAGGAGAGCCAGCAAATGTTACTGCAATTGTATCGCTG
TATGGAGAGGACGCTGGTGACTTTTTTGACACATATGCTGCAGCTTTTATACCTGCCGGAGAAACAAACAGAACAGTGTACATAGCAGTATGTGATGATGACTTA
CCAGAGCCTGACGAAACTTTTATTTTTCACTTAACATTACAGAAACCTTCAGCAAATGTGAAGCTTGGATGGCCAAGGACTGTTACTGTGACAATATTATCAAAT
GACAATGCATTTGGAATTATTTCATTTAATATGCTTCCCTCAATCGCAGTGAGTGAGCCCAAGGGCAGAAATGAGTCTATGCCTCTTACTCTCATCAGGGAAAAG
GGAACCTATGGAATGGTCATGGTGACTTTTGAGGTAGAGGGTGGCCCAAATCCCCCTGATGAAGATTTGAGTCCAGTTAAAGGAAATATCACCTTTCCCCCTGGC
AGAGCAACAGTAATTTATAACTTGACAGTACTCGATGACGAGGTACCAGAAAATGATGAAATATTTTTAATTCAACTGAAAAGTGTAGAAGGAGGAGCTGAGATT
AACACCTCTAGGAATTCCATTGAGATCATCATTAAGAAAAATGATAGTCCCGTGAGATTCCTTCAGAGTATTTATTTGGTTCCTGAGGAAGACCACATACTCATA
ATTCCAGTAGTTCGTGGAAAGGACAACAATGGAAATCTGATTGGATCTGATGAATATGAGGTTTCAATCAGTTATGCTGTCACAACTGGGAATTCCACAGCACAT
GCCCAGCAAAATCTGGACTTCATTGATCTTCAGCCAAACACAACTGTTGTTTTTCCACCTTTTATTCATGAATCTCACTTGAAATTTCAAATAGTTGATGACACC
ATACCGGAGATTGCTGAATCGTTTCACATTATGTTACTAAAAGATACCTTACAGGGAGATGCTGTGCTAATAAGCCCTTCTGTTGTACAAGTCACCATTAAGCCA
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>GPR98|84059|protein
MSVFLGPGMPSASLLVNLLSALLILFVFGETEIRFTGQTEFVVNETSTTVIRLIIERIGEPANVTAIVSLYGEDAGDFFDTYAAAFIPAGETNRTVYIAVCDDDL
PEPDETFIFHLTLQKPSANVKLGWPRTVTVTILSNDNAFGIISFNMLPSIAVSEPKGRNESMPLTLIREKGTYGMVMVTFEVEGGPNPPDEDLSPVKGNITFPPG
RATVIYNLTVLDDEVPENDEIFLIQLKSVEGGAEINTSRNSIEIIIKKNDSPVRFLQSIYLVPEEDHILIIPVVRGKDNNGNLIGSDEYEVSISYAVTTGNSTAH
AQQNLDFIDLQPNTTVVFPPFIHESHLKFQIVDDTIPEIAESFHIMLLKDTLQGDAVLISPSVVQVTIKPNDKPYGVLSFNSVLFERTVIIDEDRISRYEEITVV
RNGGTHGNVSANWVLTRNSTDPSPVTADIRPSSGVLHFAQGQMLATIPLTVVDDDLPEEAEAYLLQILPHTIRGGAEVSEPAELLFYIQDSDDVYGLITFFPMEN
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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 (3) 0 (0) 0 (0) 1 (1) 1 (3) 0 (1) 0 (0) 1 (1) 23 (9)
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
Ezugha, 2010 - aCGHautism - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.31709 Up 1.94534
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1690621
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
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