Evidence Details for ARHGEF38
Basic Information Top
| Gene Symbol: | ARHGEF38 ( FLJ20184 ) |
|---|---|
| Gene Full Name: | Rho guanine nucleotide exchange factor (GEF) 38 |
| Band: | 4q24 |
| Quick Links | Entrez ID:54848; OMIM: NA; Uniprot ID:ARH38_HUMAN; ENSEMBL ID: ENSG00000138784; HGNC ID: 25968 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ARHGEF38|54848|nucleotide
ATGGAGCCCAAAGAAGCCACTGGGAAAGAAAACATGGTCACCAAGAAAAAGAATCTGGCCTTCTTGAGGTCTAGACTCTATATGCTGGAGAGAAGGAAGACTGAC
ACTGTGGTTGAGAGCAGTGTTTCTGGGGACCACTCTGGCACCTTGAGGAGGAGCCAATCTGACAGGACCGAATACAACCAGAAATTACAAGAAAAGATGACTCCA
CAGGGTGAGTGTTCTGTAGCTGAGACCTTAACCCCAGAGGAAGAGCATCATATGAAGAGGATGATGGCAAAGCGGGAAAAGATCATTAAGGAGCTGATACAGACA
GAAAAGGATTATCTCAATGATCTAGAGCTGTGTGTTAGGGAAGTGGTTCAGCCCCTGAGAAATAAAAAGACTGATAGGCTGGATGTGGATAGCTTGTTTAGCAAC
ATTGAGTCCGTGCATCAGATATCAGCCAAGCTGCTGTCATTGTTGGAAGAGGCCACAACAGACGTGGAACCGGCCATGCAAGTAATTGGAGAAGTATTCTTGCAG
ATTAAAGGGCCACTGGAAGATATTTATAAAATCTACTGCTATCACCATGATGAAGCACATAGTATACTGGAGTCCTATGAAAAGGAAGAAGAGCTGAAGGAACAT
TTGAGCCACTGTATCCAGTCCTTAAAGTAA
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ATGGAGCCCAAAGAAGCCACTGGGAAAGAAAACATGGTCACCAAGAAAAAGAATCTGGCCTTCTTGAGGTCTAGACTCTATATGCTGGAGAGAAGGAAGACTGAC
ACTGTGGTTGAGAGCAGTGTTTCTGGGGACCACTCTGGCACCTTGAGGAGGAGCCAATCTGACAGGACCGAATACAACCAGAAATTACAAGAAAAGATGACTCCA
CAGGGTGAGTGTTCTGTAGCTGAGACCTTAACCCCAGAGGAAGAGCATCATATGAAGAGGATGATGGCAAAGCGGGAAAAGATCATTAAGGAGCTGATACAGACA
GAAAAGGATTATCTCAATGATCTAGAGCTGTGTGTTAGGGAAGTGGTTCAGCCCCTGAGAAATAAAAAGACTGATAGGCTGGATGTGGATAGCTTGTTTAGCAAC
ATTGAGTCCGTGCATCAGATATCAGCCAAGCTGCTGTCATTGTTGGAAGAGGCCACAACAGACGTGGAACCGGCCATGCAAGTAATTGGAGAAGTATTCTTGCAG
ATTAAAGGGCCACTGGAAGATATTTATAAAATCTACTGCTATCACCATGATGAAGCACATAGTATACTGGAGTCCTATGAAAAGGAAGAAGAGCTGAAGGAACAT
TTGAGCCACTGTATCCAGTCCTTAAAGTAA
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>ARHGEF38|54848|protein
MEPKEATGKENMVTKKKNLAFLRSRLYMLERRKTDTVVESSVSGDHSGTLRRSQSDRTEYNQKLQEKMTPQGECSVAETLTPEEEHHMKRMMAKREKIIKELIQT
EKDYLNDLELCVREVVQPLRNKKTDRLDVDSLFSNIESVHQISAKLLSLLEEATTDVEPAMQVIGEVFLQIKGPLEDIYKIYCYHHDEAHSILESYEKEEELKEH
LSHCIQSLK
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MEPKEATGKENMVTKKKNLAFLRSRLYMLERRKTDTVVESSVSGDHSGTLRRSQSDRTEYNQKLQEKMTPQGECSVAETLTPEEEHHMKRMMAKREKIIKELIQT
EKDYLNDLELCVREVVQPLRNKKTDRLDVDSLFSNIESVHQISAKLLSLLEEATTDVEPAMQVIGEVFLQIKGPLEDIYKIYCYHHDEAHSILESYEKEEELKEH
LSHCIQSLK
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Evidence summary TopClick 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 (2) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | |  | autism | 115 | - | 115 | - | - | - | - |
| Ylisaukko-oja, 2006 | USA, Finland | microsatellite-based genomic screen | | | ASD | 314 | - | 314 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact 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.