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