Evidence Details for ARHGAP24
Basic Information Top
Gene Symbol: | ARHGAP24 ( DKFZp564B1162,FILGAP,FLJ33877,RC-GAP72,RCGAP72,p73,p73RhoGAP ) |
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Gene Full Name: | Rho GTPase activating protein 24 |
Band: | 4q21.23-q21.3 |
Quick Links | Entrez 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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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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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 | aCGH | ASD | - | - | - | - | 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 screen | PDD | 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 | |||
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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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