AutismKB 2.0

Evidence Details for RASGRP1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RASGRP1 ( CALDAG-GEFI,CALDAG-GEFII,MGC129998,MGC129999,RASGRP,V,hRasGRP1 )
Gene Full Name: RAS guanyl releasing protein 1 (calcium and DAG-regulated)
Band: 15q14
Quick LinksEntrez ID:10125; OMIM: 603962; Uniprot ID:GRP1_HUMAN; ENSEMBL ID: ENSG00000172575; HGNC ID: 9878
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASGRP1|10125|nucleotide
ATGGGCACCCTGGGCAAGGCGAGAGAGGCTCCGCGGAAACCTTCCCATGGCTGCAGAGCTGCCTCTAAAGCAAGACTAGAGGCAAAGCCAGCCAACAGCCCCTTC
CCCTCCCATCCCAGCTTGGCCCACATCACCCAGTTCCGAATGATGGTGTCTCTGGGACATTTAGCCAAAGGAGCCAGCCTGGACGATCTCATTGACAGCTGCATT
CAATCTTTTGATGCAGATGGAAACCTGTGTCGAAGTAACCAACTGTTGCAAGTCATGCTGACCATGCACCGAATTGTCATCTCCTCTGCAGAACTGCTCCAAAAA
GTTATCACCCTCTATAAGGATGCTTTGGCAAAGAATTCACCAGGACTTTGCCTGAAGATCTGTTATTTTGTAAGGTATTGGATAACAGAATTCTGGGTCATGTTT
AAAATGGACGCCAGCTTGACAGACACTATGGAGGAGTTTCAGGAACTGGTGAAAGCTAAGGGTGAGGAGTTACATTGCCGCCTGATTGACACAACTCAAATCAAT
GCCCGTGACTGGTCCAGGAAACTTACTCAAAGGATAAAATCAAATACCAGCAAGAAACGGAAAGTCTCCCTGCTCTTTGACCATCTGGAACCAGAAGAGCTATCC
GAGCACCTCACCTACCTTGAGTTCAAGTCTTTCCGGAGGATATCGTTCTCTGATTATCAGAATTACCTTGTAAATAGCTGTGTGAAGGAAAACCCCACCATGGAG
CGATCTATTGCTCTGTGCAACGGCATCTCCCAGTGGGTACAACTGATGGTTCTCAGCCGCCCCACGCCGCAGCTCCGAGCAGAAGTCTTCATCAAGTTCATCCAG
GTGGCTCAGAAGCTCCACCAACTACAGAACTTCAATACACTGATGGCTGTGATAGGTGGGCTGTGTCACAGCTCAATCTCGAGGCTCAAGGAGACAAGTTCGCAT
GTCCCACATGAAATCAATAAGGTTCTCGGTGAGATGACTGAGCTGCTGTCCTCCTCCAGAAACTACGACAATTACCGGCGAGCCTATGGAGAGTGCACCGACTTC
AAGATCCCCATTCTGGGTGTGCATCTCAAGGACCTCATCTCCCTGTATGAAGCCATGCCTGACTATCTGGAGGACGGGAAAGTGAACGTCCATAAGCTACTGGCC
Show »

>RASGRP1|10125|protein
MGTLGKAREAPRKPSHGCRAASKARLEAKPANSPFPSHPSLAHITQFRMMVSLGHLAKGASLDDLIDSCIQSFDADGNLCRSNQLLQVMLTMHRIVISSAELLQK
VITLYKDALAKNSPGLCLKICYFVRYWITEFWVMFKMDASLTDTMEEFQELVKAKGEELHCRLIDTTQINARDWSRKLTQRIKSNTSKKRKVSLLFDHLEPEELS
EHLTYLEFKSFRRISFSDYQNYLVNSCVKENPTMERSIALCNGISQWVQLMVLSRPTPQLRAEVFIKFIQVAQKLHQLQNFNTLMAVIGGLCHSSISRLKETSSH
VPHEINKVLGEMTELLSSSRNYDNYRRAYGECTDFKIPILGVHLKDLISLYEAMPDYLEDGKVNVHKLLALYNHISELVQLQEVAPPLEANKDLVHLLTLSLDLY
YTEDEIYELSYAREPRNHRAPSVFKNYDHDQDGYISQEEFEKIAASFPFSFCVMDKDREGLISRDEITAYFMRASSIYSKLGLGFPHNFQETTYLKPTFCDNCAG
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
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
Philippe, 1999 Sweden, France, Norway, Italy, Austria, Belgium, U microsatellite-based genomic screenautism 51 - 51 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
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%)
0.851731 Down 15.8328
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1768958
  • 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
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