AutismKB 2.0

Evidence Details for RASGRP4


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Basic Information Top
Gene Symbol:RASGRP4 ( - )
Gene Full Name: RAS guanyl releasing protein 4
Band: 19q13.1
Quick LinksEntrez ID:115727; OMIM: 607320; Uniprot ID:GRP4_HUMAN; ENSEMBL ID: ENSG00000171777; HGNC ID: 18958
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASGRP4|115727|nucleotide
ATGAACAGAAAAGACAGTAAGAGGAAGTCCCACCAGGAATGCACCGGAAAAATAGGAGGGCGAGGCCGGCCCCGCCAAGTGCGCCGCCACAAGACATGCCCCAGC
CCTCGGGAAATCAGCAAGGTCATGGCTTCCATGAACCTGGGCCTGCTGAGTGAGGGCGGCTGCAGCGAAGATGAGCTGCTGGAGAAATGCATCCAGTCCTTCGAT
TCAGCTGGCAGCCTGTGCCACGAGGACCACATGCTCAACATGGTGCTGGCCATGCACAGCTGGGTGCTGCCGTCCGCCGACCTGGCTGCCCGCCTGCTGACCTCA
TACCAGAAGGCCACAGGGGACACCCAGGAGCTGAGACGGCTGCAGATCTGTCACCTGGTCAGGTACTGGCTGATGCGACACCCTGAGGTGATGCACCAGGATCCC
CAGCTAGAAGAAGTCATAGGTCGTTTCTGGGCCACCGTGGCCCGGGAGGGCAACTCAGCCCAGAGAAGACTGGGAGACTCTTCTGACCTCCCAGGCCTGGGCAAA
AAGCGCAAAGTGTCCTTGCTTTTCGACCACTTGGAGACGGGGGAGCTGGCTCAGCACCTCACCTACCTGGAGTTCCGGTCCTTCCAGGCTATCACGCCCCAGGAC
CTGCGGAGCTACGTTTTGCAGGGCTCAGTACGAGGCTGCCCGGCCCTGGAGGGCTCCGTAGGTCTCAGCAACAGCGTGTCCCGCTGGGTGCAGGTGATGGTGCTG
AGCCGTCCCGGGCCCCTACAGCGTGCACAGGTGCTGGACAAGTTCATTCACGTGGCACAGAGGCTCCACCAGCTGCAGAATTTCAACACGCTGATGGCAGTCACA
GGGGGCCTGTGTCACAGTGCCATCTCCAGACTCAAGGACTCCCATGCCCACCTGAGCCCTGACAGCACCAAGGCCCTCCTGGAGCTCACTGAGCTCCTTGCCTCC
CACAACAACTACGCCCGCTACCGCCGCACCTGGGCTGGCTGCGCGGGTTTCCGGCTGCCTGTACTGGGCGTGCACCTCAAGGACCTGGTGTCCCTGCATGAGGCA
CAGCCCGACAGGTTGCCTGACGGCCGCCTGCACCTACCCAAGCTGAACAACCTCTACCTGCGGCTGCAGGAGCTGGTGGCCCTCCAAGGGCAGCATCCACCCTGC
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>RASGRP4|115727|protein
MNRKDSKRKSHQECTGKIGGRGRPRQVRRHKTCPSPREISKVMASMNLGLLSEGGCSEDELLEKCIQSFDSAGSLCHEDHMLNMVLAMHSWVLPSADLAARLLTS
YQKATGDTQELRRLQICHLVRYWLMRHPEVMHQDPQLEEVIGRFWATVAREGNSAQRRLGDSSDLPGLGKKRKVSLLFDHLETGELAQHLTYLEFRSFQAITPQD
LRSYVLQGSVRGCPALEGSVGLSNSVSRWVQVMVLSRPGPLQRAQVLDKFIHVAQRLHQLQNFNTLMAVTGGLCHSAISRLKDSHAHLSPDSTKALLELTELLAS
HNNYARYRRTWAGCAGFRLPVLGVHLKDLVSLHEAQPDRLPDGRLHLPKLNNLYLRLQELVALQGQHPPCSANEDLLHLLTLSLDLFYTEDEIYELSYAREPRCP
KSLPPSPFNAPLVVEWAPGVTPKPDRVTLGRHVEQLVESVFKNYDPEGRGTISQEDFERLSGNFPFACHGLHPPPRQGRGSFSREELTGYLLRASAICSKLGLAF
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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 (2) 1 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
AS -
(3-21)
-
>70
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
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
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
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.

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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