Evidence Details for RAB31
Basic Information Top
| Gene Symbol: | RAB31 ( Rab22B ) |
|---|---|
| Gene Full Name: | RAB31, member RAS oncogene family |
| Band: | 18p11.22 |
| Quick Links | Entrez ID:11031; OMIM: 605694; Uniprot ID:RAB31_HUMAN; ENSEMBL ID: ENSG00000168461; HGNC ID: 9771 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RAB31|11031|nucleotide
ATGATGGCGATACGGGAGCTCAAAGTGTGCCTTCTCGGGGACACTGGGGTTGGGAAATCAAGCATCGTGTGTCGATTTGTCCAGGATCACTTTGACCACAACATC
AGCCCTACTATTGGGGCATCTTTTATGACCAAAACTGTGCCTTGTGGAAATGAACTTCACAAGTTCCTCATCTGGGACACTGCTGGTCAGGAACGGTTTCATTCA
TTGGCTCCCATGTACTATCGAGGCTCAGCTGCAGCTGTTATCGTGTATGATATTACCAAGCAGGATTCATTTTATACCTTGAAGAAATGGGTCAAGGAGCTGAAA
GAACATGGTCCAGAAAACATTGTAATGGCCATCGCTGGAAACAAGTGCGACCTCTCAGATATTAGGGAGGTTCCCCTGAAGGATGCTAAGGAATACGCTGAATCC
ATAGGTGCCATCGTGGTTGAGACAAGTGCAAAAAATGCTATTAATATCGAAGAGCTCTTTCAAGGAATCAGCCGCCAGATCCCACCCTTGGACCCCCATGAAAAT
GGAAACAATGGAACAATCAAAGTTGAGAAGCCAACCATGCAAGCCAGCCGCCGGTGCTGTTGA
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ATGATGGCGATACGGGAGCTCAAAGTGTGCCTTCTCGGGGACACTGGGGTTGGGAAATCAAGCATCGTGTGTCGATTTGTCCAGGATCACTTTGACCACAACATC
AGCCCTACTATTGGGGCATCTTTTATGACCAAAACTGTGCCTTGTGGAAATGAACTTCACAAGTTCCTCATCTGGGACACTGCTGGTCAGGAACGGTTTCATTCA
TTGGCTCCCATGTACTATCGAGGCTCAGCTGCAGCTGTTATCGTGTATGATATTACCAAGCAGGATTCATTTTATACCTTGAAGAAATGGGTCAAGGAGCTGAAA
GAACATGGTCCAGAAAACATTGTAATGGCCATCGCTGGAAACAAGTGCGACCTCTCAGATATTAGGGAGGTTCCCCTGAAGGATGCTAAGGAATACGCTGAATCC
ATAGGTGCCATCGTGGTTGAGACAAGTGCAAAAAATGCTATTAATATCGAAGAGCTCTTTCAAGGAATCAGCCGCCAGATCCCACCCTTGGACCCCCATGAAAAT
GGAAACAATGGAACAATCAAAGTTGAGAAGCCAACCATGCAAGCCAGCCGCCGGTGCTGTTGA
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>RAB31|11031|protein
MMAIRELKVCLLGDTGVGKSSIVCRFVQDHFDHNISPTIGASFMTKTVPCGNELHKFLIWDTAGQERFHSLAPMYYRGSAAAVIVYDITKQDSFYTLKKWVKELK
EHGPENIVMAIAGNKCDLSDIREVPLKDAKEYAESIGAIVVETSAKNAINIEELFQGISRQIPPLDPHENGNNGTIKVEKPTMQASRRCC
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MMAIRELKVCLLGDTGVGKSSIVCRFVQDHFDHNISPTIGASFMTKTVPCGNELHKFLIWDTAGQERFHSLAPMYYRGSAAAVIVYDITKQDSFYTLKKWVKELK
EHGPENIVMAIAGNKCDLSDIREVPLKDAKEYAESIGAIVVETSAKNAINIEELFQGISRQIPPLDPHENGNNGTIKVEKPTMQASRRCC
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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 (0) | 0 (0) | 0 (0) | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hu, 2006_1 | Unknown | lymphoblastoid cell lines | 3 (-) |  | | monozygotic twins with different severity | autism | 3 (-) |
-0.58 | Down | - | |
| ||||||||||||
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
NGS 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.