AutismKB 2.0

Evidence Details for GPRASP1


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Basic Information Top
Gene Symbol:GPRASP1 ( GASP,GASP-1,GASP1,KIAA0443 )
Gene Full Name: G protein-coupled receptor associated sorting protein 1
Band: Xq22.1
Quick LinksEntrez ID:9737; OMIM: 300417; Uniprot ID:GASP1_HUMAN; ENSEMBL ID: ENSG00000198932; HGNC ID: 24834
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GPRASP1|9737|nucleotide
ATGACTGGGGCAGAGATTGAGTCTGGTGCCCAGGTCAAGCCTGAAAAGAAGCCTGGGGAAGAGGTTGTAGGTGGGGCTGAGATAGAGAATGATGTCCCTCTGGTG
GTCAGACCCAAGGTTAGGACCCAGGCCCAGATAATGCCTGGGGCAAGGCCCAAGAATAAGTCCAAGGTTATGCCTGGAGCAAGCACCAAAGTTGAGACAAGTGCA
GTGGGTGGGGCACGCCCTAAGAGTAAGGCCAAGGCAATACCTGTTTCACGATTTAAGGAAGAAGCCCAGATGTGGGCTCAGCCCAGGTTTGGTGCTGAAAGATTG
TCTAAGACAGAGAGAAACTCCCAGACCAATATCATAGCCTCTCCACTTGTCAGTACTGATTCTGTCTTGGTTGCTAAAACAAAGTACCTGTCTGAGGATAGAGAA
CTGGTTAATACAGACACTGAGAGCTTTCCTAGAAGGAAGGCCCATTACCAAGCAGGATTCCAGCCTTCTTTTAGGTCAAAGGAGGAGACCAATATGGGGTCCTGG
TGCTGTCCTAGGCCTACATCCAAACAAGAAGCCTCTCCTAATTCTGATTTCAAATGGGTAGACAAATCTGTGAGTTCCTTGTTCTGGAGTGGAGATGAGGTCACT
GCAAAATTTCATCCTGGGAATAGGGTAAAAGACAGTAACAGATCCATGCACATGGCCAATCAAGAGGCTAATACCATGTCTAGGTCCCAAACTAACCAGGAGCTC
TATATTGCATCTAGTTCTGGTTCTGAGGATGAGTCTGTTAAGACACCCTGGTTCTGGGCCAGAGATAAAACCAATACCTGGTCTGGGCCCAGGGAAGATCCCAAT
AGCAGGTCCAGGTTTAGGTCTAAGAAAGAAGTCTATGTTGAATCAAGTTCTGGATCTGAGCATGAAGACCATTTGGAGTCCTGGTTTGGGGCTGGAAAGGAGGCC
AAATTCAGGTCCAAAATGAGAGCTGGGAAGGAGGCCAATAACAGGGCCAGGCACAGGGCCAAGCGAGAAGCTTGCATTGATTTCATGCCTGGGTCTATAGATGTA
ATTAAAAAAGAGTCCTGTTTCTGGCCTGAAGAAAATGCTAATACCTTTTCAAGGCCCATGATCAAGAAAGAGGCCAGGGCCAGAGCAATGACAAAGGAAGAGGCC
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>GPRASP1|9737|protein
MTGAEIESGAQVKPEKKPGEEVVGGAEIENDVPLVVRPKVRTQAQIMPGARPKNKSKVMPGASTKVETSAVGGARPKSKAKAIPVSRFKEEAQMWAQPRFGAERL
SKTERNSQTNIIASPLVSTDSVLVAKTKYLSEDRELVNTDTESFPRRKAHYQAGFQPSFRSKEETNMGSWCCPRPTSKQEASPNSDFKWVDKSVSSLFWSGDEVT
AKFHPGNRVKDSNRSMHMANQEANTMSRSQTNQELYIASSSGSEDESVKTPWFWARDKTNTWSGPREDPNSRSRFRSKKEVYVESSSGSEHEDHLESWFGAGKEA
KFRSKMRAGKEANNRARHRAKREACIDFMPGSIDVIKKESCFWPEENANTFSRPMIKKEARARAMTKEEAKTKARARAKQEARSEEEALIGTWFWATDESSMADE
ASIESSLQVEDESIIGSWFWTEEEASMGTGASSKSRPRTDGERIGDSLFGAREKTSMKTGAEATSESILAADDEQVIIGSWFWAGEEVNQEAEEETIFGSWFWVI
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
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, 2014 3486 - 59 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
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