Evidence Details for RBM3
Basic Information Top
| Gene Symbol: | RBM3 ( IS1-RNPL,RNPL ) |
|---|---|
| Gene Full Name: | RNA binding motif (RNP1, RRM) protein 3 |
| Band: | Xp11.23 |
| Quick Links | Entrez ID:5935; OMIM: 300027; Uniprot ID:RBM3_HUMAN; ENSEMBL ID: ENSG00000102317; HGNC ID: 9900 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RBM3|5935|nucleotide
ATGTCCTCTGAAGAAGGAAAGCTCTTCGTGGGAGGGCTCAACTTTAACACCGACGAGCAGGCACTGGAAGACCACTTCAGCAGTTTCGGACCTATCTCTGAGGTG
GTCGTTGTCAAGGACCGGGAGACTCAGCGGTCCAGGGGTTTTGGTTTCATCACCTTCACCAACCCAGAGCATGCTTCAGTTGCCATGAGAGCCATGAACGGAGAG
TCTCTGGATGGTCGTCAGATCCGTGTGGATCATGCAGGCAAGTCTGCTCGGGGAACCAGAGGAGGTGGCTTTGGGGCCCATGGGCGTGGTCGCAGCTACTCTAGA
GGTGGTGGGGACCAGGGCTATGGGAGTGGCAGGTATTATGACAGTCGACCTGGAGGGTATGGATATGGATATGGACGTTCCAGAGACTATAATGGCAGAAACCAG
GGTGGTTATGACCGCTACTCAGGAGGAAATTACAGAGACAATTATGACAACTGA
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ATGTCCTCTGAAGAAGGAAAGCTCTTCGTGGGAGGGCTCAACTTTAACACCGACGAGCAGGCACTGGAAGACCACTTCAGCAGTTTCGGACCTATCTCTGAGGTG
GTCGTTGTCAAGGACCGGGAGACTCAGCGGTCCAGGGGTTTTGGTTTCATCACCTTCACCAACCCAGAGCATGCTTCAGTTGCCATGAGAGCCATGAACGGAGAG
TCTCTGGATGGTCGTCAGATCCGTGTGGATCATGCAGGCAAGTCTGCTCGGGGAACCAGAGGAGGTGGCTTTGGGGCCCATGGGCGTGGTCGCAGCTACTCTAGA
GGTGGTGGGGACCAGGGCTATGGGAGTGGCAGGTATTATGACAGTCGACCTGGAGGGTATGGATATGGATATGGACGTTCCAGAGACTATAATGGCAGAAACCAG
GGTGGTTATGACCGCTACTCAGGAGGAAATTACAGAGACAATTATGACAACTGA
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>RBM3|5935|protein
MSSEEGKLFVGGLNFNTDEQALEDHFSSFGPISEVVVVKDRETQRSRGFGFITFTNPEHASVAMRAMNGESLDGRQIRVDHAGKSARGTRGGGFGAHGRGRSYSR
GGGDQGYGSGRYYDSRPGGYGYGYGRSRDYNGRNQGGYDRYSGGNYRDNYDN
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MSSEEGKLFVGGLNFNTDEQALEDHFSSFGPISEVVVVKDRETQRSRGFGFITFTNPEHASVAMRAMNGESLDGRQIRVDHAGKSARGTRGGGFGAHGRGRSYSR
GGGDQGYGSGRYYDSRPGGYGYGYGRSRDYNGRNQGGYDRYSGGNYRDNYDN
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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) | 1 (5) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (5) |
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 | ||||||
| Marshall, 2008 | - | SNP microarray |  | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Edens, 2011 | Austria | FISH, aCGH |  | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Chung, 2011 | - | SNP microarray | | | ASD | - | - | - | - | 1 | - | 1 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Nava C, 2012 | France | - | | | ASD | 12 | - | 12 | - | - |
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.