AutismKB 2.0

Evidence Details for GPR139


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Basic Information Top
Gene Symbol:GPR139 ( GPRg1,PGR3 )
Gene Full Name: G protein-coupled receptor 139
Band: 16p12.3
Quick LinksEntrez ID:124274; OMIM: NA; Uniprot ID:GP139_HUMAN; ENSEMBL ID: ENSG00000180269; HGNC ID: 19995
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPR139|124274|nucleotide
ATGGAGCACACGCACGCCCACCTCGCAGCCAACAGCTCGCTGTCTTGGTGGTCCCCCGGCTCGGCCTGCGGCTTGGGTTTCGTGCCCGTGGTCTACTACAGCCTC
TTGCTGTGCCTCGGTTTACCAGCAAATATCTTGACAGTGATCATCCTCTCCCAGCTGGTGGCAAGAAGACAGAAGTCCTCCTACAACTATCTCTTGGCACTCGCT
GCTGCCGACATCTTGGTCCTCTTTTTCATAGTGTTTGTGGACTTCCTGTTGGAAGATTTCATCTTGAACATGCAGATGCCTCAGGTCCCCGACAAGATCATAGAA
GTGCTGGAATTCTCATCCATCCACACCTCCATATGGATTACTGTACCGTTAACCATTGACAGGTATATCGCTGTCTGCCACCCGCTCAAGTACCACACGGTCTCA
TACCCAGCCCGCACCCGGAAAGTCATTGTAAGTGTTTACATCACCTGCTTCCTGACCAGCATCCCCTATTACTGGTGGCCCAACATCTGGACTGAAGACTACATC
AGCACCTCTGTGCATCACGTCCTCATCTGGATCCACTGCTTCACCGTCTACCTGGTGCCCTGCTCCATCTTCTTCATCTTGAACTCAATCATTGTGTACAAGCTC
AGGAGGAAGAGCAATTTTCGTCTCCGTGGCTACTCCACGGGGAAGACCACCGCCATCTTGTTCACCATTACCTCCATCTTTGCCACACTTTGGGCCCCCCGCATC
ATCATGATTCTTTACCACCTCTATGGGGCGCCCATCCAGAACCGCTGGCTGGTACACATCATGTCCGACATTGCCAACATGCTAGCCCTTCTGAACACAGCCATC
AACTTCTTCCTCTACTGCTTCATCAGCAAGCGGTTCCGCACCATGGCAGCCGCCACGCTCAAGGCTTTCTTCAAGTGCCAGAAGCAACCTGTACAGTTCTACACC
AATCATAACTTTTCCATAACAAGTAGCCCCTGGATCTCGCCGGCAAACTCACACTGCATCAAGATGCTGGTGTACCAGTATGACAAAAATGGAAAACCTATAAAA
GTATCCCCGTGA
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>GPR139|124274|protein
MEHTHAHLAANSSLSWWSPGSACGLGFVPVVYYSLLLCLGLPANILTVIILSQLVARRQKSSYNYLLALAAADILVLFFIVFVDFLLEDFILNMQMPQVPDKIIE
VLEFSSIHTSIWITVPLTIDRYIAVCHPLKYHTVSYPARTRKVIVSVYITCFLTSIPYYWWPNIWTEDYISTSVHHVLIWIHCFTVYLVPCSIFFILNSIIVYKL
RRKSNFRLRGYSTGKTTAILFTITSIFATLWAPRIIMILYHLYGAPIQNRWLVHIMSDIANMLALLNTAINFFLYCFISKRFRTMAAATLKAFFKCQKQPVQFYT
NHNFSITSSPWISPANSHCIKMLVYQYDKNGKPIKVSP

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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) 0 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2011 - 20 21 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Sanders SJ, 2012 - 238 172 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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