Evidence Details for RIMS3
Basic Information Top
| Gene Symbol: | RIMS3 ( KIAA0237,NIM3,RIM3 ) |
|---|---|
| Gene Full Name: | regulating synaptic membrane exocytosis 3 |
| Band: | 1p34.2 |
| Quick Links | Entrez ID:9783; OMIM: 611600; Uniprot ID:RIMS3_HUMAN; ENSEMBL ID: ENSG00000117016; HGNC ID: 21292 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RIMS3|9783|nucleotide
ATGTTTAACGGGGAGCCAGGTCCTGCCTCATCTGGGGCCTCCAGGAATGTGGTGCGGAGCTCCAGCATTAGCGGTGAAATCTGCGGATCCCAGCAAGCCGGGGGC
GGGGCTGGGACCACCACCGCCAAGAAGCGGCGGAGCAGCCTGGGTGCCAAGATGGTGGCCATCGTGGGCCTGACTCAGTGGAGCAAGAGCACACTCCAGCTTCCG
CAGCCTGAAGGGGCCACCAAGAAGCTGCGCAGCAACATCCGCCGGAGCACGGAGACAGGCATCGCGGTGGAGATGCGGAGCCGGGTCACACGCCAGGGCAGCCGG
GAGTCCACCGATGGGAGCACCAACAGCAACAGCTCCGACGGCACGTTCATCTTCCCCACTACCCGGCTAGGGGCTGAAAGCCAGTTCAGCGATTTCCTGGATGGG
CTGGGACCAGCTCAGATTGTGGGGCGACAGACACTGGCAACACCACCCATGGGAGATGTGCACATTGCCATCATGGACCGGAGTGGCCAGCTGGAGGTGGAAGTG
ATTGAAGCTCGGGGCCTGACCCCCAAACCAGGCTCCAAATCCCTCCCAGCCACCTATATCAAGGTTTACCTGCTGGAGAATGGGGCCTGCTTGGCCAAGAAGAAG
ACAAAGATGACCAAGAAGACCTGTGATCCCCTGTACCAGCAGGCTCTGCTCTTTGACGAGGGACCCCAGGGCAAGGTGCTGCAGGTGATCGTCTGGGGAGACTAT
GGCCGCATGGACCACAAGTGCTTCATGGGCATGGCCCAGATCATGCTGGACGAGCTGGACCTCAGCGCCGCGGTCACCGGCTGGTACAAACTCTTCCCCACCTCC
TCAGTGGCAGACTCCACACTCGGATCCCTCACCAGGCGCCTGTCCCAGTCTTCCCTGGAGAGTGCCACCAGCCCCTCATGCTCTTAA
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ATGTTTAACGGGGAGCCAGGTCCTGCCTCATCTGGGGCCTCCAGGAATGTGGTGCGGAGCTCCAGCATTAGCGGTGAAATCTGCGGATCCCAGCAAGCCGGGGGC
GGGGCTGGGACCACCACCGCCAAGAAGCGGCGGAGCAGCCTGGGTGCCAAGATGGTGGCCATCGTGGGCCTGACTCAGTGGAGCAAGAGCACACTCCAGCTTCCG
CAGCCTGAAGGGGCCACCAAGAAGCTGCGCAGCAACATCCGCCGGAGCACGGAGACAGGCATCGCGGTGGAGATGCGGAGCCGGGTCACACGCCAGGGCAGCCGG
GAGTCCACCGATGGGAGCACCAACAGCAACAGCTCCGACGGCACGTTCATCTTCCCCACTACCCGGCTAGGGGCTGAAAGCCAGTTCAGCGATTTCCTGGATGGG
CTGGGACCAGCTCAGATTGTGGGGCGACAGACACTGGCAACACCACCCATGGGAGATGTGCACATTGCCATCATGGACCGGAGTGGCCAGCTGGAGGTGGAAGTG
ATTGAAGCTCGGGGCCTGACCCCCAAACCAGGCTCCAAATCCCTCCCAGCCACCTATATCAAGGTTTACCTGCTGGAGAATGGGGCCTGCTTGGCCAAGAAGAAG
ACAAAGATGACCAAGAAGACCTGTGATCCCCTGTACCAGCAGGCTCTGCTCTTTGACGAGGGACCCCAGGGCAAGGTGCTGCAGGTGATCGTCTGGGGAGACTAT
GGCCGCATGGACCACAAGTGCTTCATGGGCATGGCCCAGATCATGCTGGACGAGCTGGACCTCAGCGCCGCGGTCACCGGCTGGTACAAACTCTTCCCCACCTCC
TCAGTGGCAGACTCCACACTCGGATCCCTCACCAGGCGCCTGTCCCAGTCTTCCCTGGAGAGTGCCACCAGCCCCTCATGCTCTTAA
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>RIMS3|9783|protein
MFNGEPGPASSGASRNVVRSSSISGEICGSQQAGGGAGTTTAKKRRSSLGAKMVAIVGLTQWSKSTLQLPQPEGATKKLRSNIRRSTETGIAVEMRSRVTRQGSR
ESTDGSTNSNSSDGTFIFPTTRLGAESQFSDFLDGLGPAQIVGRQTLATPPMGDVHIAIMDRSGQLEVEVIEARGLTPKPGSKSLPATYIKVYLLENGACLAKKK
TKMTKKTCDPLYQQALLFDEGPQGKVLQVIVWGDYGRMDHKCFMGMAQIMLDELDLSAAVTGWYKLFPTSSVADSTLGSLTRRLSQSSLESATSPSCS
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MFNGEPGPASSGASRNVVRSSSISGEICGSQQAGGGAGTTTAKKRRSSLGAKMVAIVGLTQWSKSTLQLPQPEGATKKLRSNIRRSTETGIAVEMRSRVTRQGSR
ESTDGSTNSNSSDGTFIFPTTRLGAESQFSDFLDGLGPAQIVGRQTLATPPMGDVHIAIMDRSGQLEVEVIEARGLTPKPGSKSLPATYIKVYLLENGACLAKKK
TKMTKKTCDPLYQQALLFDEGPQGKVLQVIVWGDYGRMDHKCFMGMAQIMLDELDLSAAVTGWYKLFPTSSVADSTLGSLTRRLSQSSLESATSPSCS
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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) | 3 (3) | 0 (0) | 0 (0) | 0 (0) | 1 (1) | 13 (4) |
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: 3
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Nishimura, 2007_1 | America | lymphoblastoid cell lines | 8 (-) |  | | autism with FMR1-FM | autism | 15 (-) |
0.66 | Down | 0.0000019 | |
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| Nishimura, 2007_2 | America | lymphoblastoid cell lines | 7 (-) | | | autism with dup(15q) | autism | 15 (-) |
0.75 | Down | 0.0000019 | |
| ||||||||||||
| Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) |  | | - | AD | 22 (13.64%) |
1.42 | Up | 0.0559 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS 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.