AutismKB 2.0

Evidence Details for ARHGAP24


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Basic Information Top
Gene Symbol:ARHGAP24 ( DKFZp564B1162,FILGAP,FLJ33877,RC-GAP72,RCGAP72,p73,p73RhoGAP )
Gene Full Name: Rho GTPase activating protein 24
Band: 4q21.23-q21.3
Quick LinksEntrez ID:83478; OMIM: 610586; Uniprot ID:RHG24_HUMAN; ENSEMBL ID: ENSG00000138639; HGNC ID: 25361
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARHGAP24|83478|nucleotide
ATGGAGGAGAACAATGACTCCACGGAGAACCCCCAACAAGGCCAAGGGCGGCAGAATGCCATCAAGTGTGGGTGGCTGAGGAAGCAAGGAGGCTTTGTCAAGACT
TGGCATACTCGCTGGTTTGTGCTCAAGGGGGATCAGCTCTATTATTTCAAAGATGAAGATGAAACCAAGCCCTTGGGTACTATTTTTCTGCCTGGAAATAAAGTT
TCTGAGCATCCCTGCAATGAAGAGAACCCAGGGAAGTTCCTTTTTGAAGTAGTTCCAGGAGGCGATCGAGATCGGATGACAGCAAATCATGAAAGCTACCTCCTC
ATGGCAAGCACCCAGAATGATATGGAAGACTGGGTGAAGTCAATCCGCCGAGTCATATGGGGACCTTTCGGAGGAGGCATTTTTGGACAGAAACTGGAGGATACT
GTTCGTTATGAGAAGAGATATGGGAACCGTCTGGCTCCGATGTTGGTGGAGCAGTGCGTGGACTTTATCCGACAAAGGGGGCTGAAAGAAGAGGGTCTCTTTCGA
CTGCCAGGCCAGGCTAATCTTGTTAAGGAGCTCCAAGATGCCTTTGACTGTGGGGAGAAGCCATCATTTGACAGCAACACAGATGTACACACGGTGGCATCACTT
CTTAAGCTGTACCTCCGAGAACTTCCAGAACCAGTTATTCCTTATGCGAAGTATGAAGATTTTTTGTCATGTGCCAAACTGCTCAGCAAGGAAGAGGAAGCAGGT
GTTAAGGAATTAGCAAAGCAGGTGAAGAGTTTGCCAGTGGTAAATTACAACCTCCTCAAGTATATTTGCAGATTCTTGGATGAAGTACAGTCCTACTCGGGAGTT
AACAAAATGAGTGTGCAGAACTTGGCAACGGTCTTTGGTCCTAATATCCTGCGCCCCAAAGTGGAAGATCCTTTGACTATCATGGAGGGCACTGTGGTGGTCCAG
CAGTTGATGTCAGTGATGATTAGCAAACATGATTGCCTCTTTCCCAAAGATGCAGAACTACAAAGCAAGCCCCAAGATGGAGTGAGCAACAACAATGAAATTCAG
AAGAAAGCCACCATGGGGCAGTTACAGAACAAGGAGAACAATAACACCAAGGACAGCCCTAGTAGGCAGTGCTCCTGGGACAAGTCTGAGTCACCCCAGAGAAGC
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>ARHGAP24|83478|protein
MEENNDSTENPQQGQGRQNAIKCGWLRKQGGFVKTWHTRWFVLKGDQLYYFKDEDETKPLGTIFLPGNKVSEHPCNEENPGKFLFEVVPGGDRDRMTANHESYLL
MASTQNDMEDWVKSIRRVIWGPFGGGIFGQKLEDTVRYEKRYGNRLAPMLVEQCVDFIRQRGLKEEGLFRLPGQANLVKELQDAFDCGEKPSFDSNTDVHTVASL
LKLYLRELPEPVIPYAKYEDFLSCAKLLSKEEEAGVKELAKQVKSLPVVNYNLLKYICRFLDEVQSYSGVNKMSVQNLATVFGPNILRPKVEDPLTIMEGTVVVQ
QLMSVMISKHDCLFPKDAELQSKPQDGVSNNNEIQKKATMGQLQNKENNNTKDSPSRQCSWDKSESPQRSSMNNGSPTALSGSKTNSPKNSVHKLDVSRSPPLMV
KKNPAFNKGSGIVTNGSFSSSNAEGLEKTQTTPNGSLQARRSSSLKVSGTKMGTHSVQNGTVRMGILNSDTLGNPTNVRNMSWLPNGYVTLRDNKQKEQAGELGQ
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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 (1) 1 (1) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Yonan, 2003 USA microsatellite-based genomic screenPDD 345 - 345 - - - -
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
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.47 Up 0.0109
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1801833
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
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
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

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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