Evidence Details for RIMS1
Basic Information Top
| Gene Symbol: | RIMS1 ( CORD7,KIAA0340,MGC167823,MGC176677,RAB3IP2,RIM,RIM1 ) |
|---|---|
| Gene Full Name: | regulating synaptic membrane exocytosis 1 |
| Band: | 6q13 |
| Quick Links | Entrez ID:22999; OMIM: 606629; Uniprot ID:RIMS1_HUMAN; ENSEMBL ID: ENSG00000079841; HGNC ID: 17282 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RIMS1|22999|nucleotide
ATGTGTGCACCTGGGATTCATGTCTCTTCAGAAGGGTGGGAAGAAGTGAGGTCTGTTGATTCCGAAGAGGGAACAATTGAAGCTCGACGAGCAGTTGCTGGTGAT
TTGGATTATTACTGGTTGGATCCTGCCACGTGGCACAGCCGGGAGACATCACCTATTAGTTCGCATCCTGTAACGTGGCAACCATCTAAAGAGGGGGACCGATTA
ATTGGACGTGTTATTCTTAACAAGAGAACAACCATGCCCAAAGACTCAGGTGCATTGCTGGGTCTGAAAGTTGTTGGAGGAAAAATGACTGACTTAGGACGACTT
GGTGCTTTCATCACCAAAGTAAAGAAGGGTAGCCTAGCAGATGTAGTTGGACACCTAAGAGCAGGGGATGAAGTTCTAGAATGGAATGGTAAACCCCTGCCGGGA
GCTACAAATGAAGAAGTTTACAACATTATTTTAGAATCAAAATCAGAACCTCAAGTTGAAATTATTGTTTCAAGGCCTATTGGTGACATTCCCCGGATTCCTGAG
AGCTCCCACCCTCCACTGGAGTCCAGTTCAAGTTCCTTTGAATCTCAGAAGATGGAAAGGCCTTCCATTTCTGTTATTTCTCCAACAAGTCCTGGAGCTCTAAAA
GATGCCCCACAAGTCTTACCAGGGCAACTTTCTGTGAAGTTGTGGTATGATAAAGTGGGACACCAGCTGATTGTAAATGTTCTGCAAGCAACAGATCTACCTGCT
AGAGTAGATGGACGTCCTCGAAATCCCTATGTAAAAATGTATTTTCTTCCAGATAGAAGTGATAAAAGTAAAAGGAGGACCAAAACAGTAAAGAAAATACTAGAA
CCAAAATGGAATCAAACTTTTGTCTATTCACATGTACATCGTAGAGATTTTAGAGAACGAATGTTAGAAATAACTGTGTGGGACCAACCAAGAGTGCAAGAAGAA
GAAAGTGAATTTCTTGGAGAGATCCTCATAGAATTGGAGACAGCGCTTTTAGATGATGAACCGCATTGGTATAAACTTCAGACACATGATGAGTCTTCACTACCT
CTGCCTCAGCCATCACCTTTCATGCCAAGGCGACATATTCATGGAGAAAGCTCTAGCAAAAAGCTACAAAGATCTCAGCGAATCAGTGATAGTGACATCTCAGAT
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ATGTGTGCACCTGGGATTCATGTCTCTTCAGAAGGGTGGGAAGAAGTGAGGTCTGTTGATTCCGAAGAGGGAACAATTGAAGCTCGACGAGCAGTTGCTGGTGAT
TTGGATTATTACTGGTTGGATCCTGCCACGTGGCACAGCCGGGAGACATCACCTATTAGTTCGCATCCTGTAACGTGGCAACCATCTAAAGAGGGGGACCGATTA
ATTGGACGTGTTATTCTTAACAAGAGAACAACCATGCCCAAAGACTCAGGTGCATTGCTGGGTCTGAAAGTTGTTGGAGGAAAAATGACTGACTTAGGACGACTT
GGTGCTTTCATCACCAAAGTAAAGAAGGGTAGCCTAGCAGATGTAGTTGGACACCTAAGAGCAGGGGATGAAGTTCTAGAATGGAATGGTAAACCCCTGCCGGGA
GCTACAAATGAAGAAGTTTACAACATTATTTTAGAATCAAAATCAGAACCTCAAGTTGAAATTATTGTTTCAAGGCCTATTGGTGACATTCCCCGGATTCCTGAG
AGCTCCCACCCTCCACTGGAGTCCAGTTCAAGTTCCTTTGAATCTCAGAAGATGGAAAGGCCTTCCATTTCTGTTATTTCTCCAACAAGTCCTGGAGCTCTAAAA
GATGCCCCACAAGTCTTACCAGGGCAACTTTCTGTGAAGTTGTGGTATGATAAAGTGGGACACCAGCTGATTGTAAATGTTCTGCAAGCAACAGATCTACCTGCT
AGAGTAGATGGACGTCCTCGAAATCCCTATGTAAAAATGTATTTTCTTCCAGATAGAAGTGATAAAAGTAAAAGGAGGACCAAAACAGTAAAGAAAATACTAGAA
CCAAAATGGAATCAAACTTTTGTCTATTCACATGTACATCGTAGAGATTTTAGAGAACGAATGTTAGAAATAACTGTGTGGGACCAACCAAGAGTGCAAGAAGAA
GAAAGTGAATTTCTTGGAGAGATCCTCATAGAATTGGAGACAGCGCTTTTAGATGATGAACCGCATTGGTATAAACTTCAGACACATGATGAGTCTTCACTACCT
CTGCCTCAGCCATCACCTTTCATGCCAAGGCGACATATTCATGGAGAAAGCTCTAGCAAAAAGCTACAAAGATCTCAGCGAATCAGTGATAGTGACATCTCAGAT
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>RIMS1|22999|protein
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRL
GAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALK
DAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEE
ESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPGYRSSARESKSTTLTVPEQQRTT
HHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSAS
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MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRL
GAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALK
DAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEE
ESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPGYRSSARESKSTTLTVPEQQRTT
HHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSAS
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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 | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (2) | 0 (0) | 1 (1) | 0 (0) | 12 (5) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Dong S, 2014 | 787 | 787 | 42 | De novo insertions and deletions of predominantly paternal origin are associated with autism spectru |
| Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Wang T, 2016 | China | Illumina HiSeq 2000 | | | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |
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.