Human Gene Module / Chromosome 6 / RIMS1

RIMS1Regulating synaptic membrane exocytosis 1

Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
3 / 3
Rare Variants / Common Variants
9 / 0
Aliases
RIMS1, RP5-1046G13.1,  CORD7,  RAB3IP2,  RIM,  RIM1
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
6q13
Associated Disorders
-
Relevance to Autism

De novo frameshift variants in this gene have been identified in unrelated ASD cases from the Simons Simplex Collection (Iossifov et al., 2012; Dong et al., 2014).

Molecular Function

Rab effector involved in exocytosis. May act as scaffold protein that regulates neurotransmitter release at the active zone. Essential for maintaining normal probability of neurotransmitter release and for regulating release during short-term synaptic plasticity. Mutations in this gene have suggested to play a role in cognition and have been identified as the cause of cone-rod dystrophy type 7 (CORD7) [MIM:603649].

Reports related to RIMS1 (3 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support De novo gene disruptions in children on the autistic spectrum. Iossifov I , et al. (2012) Yes -
2 Primary De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Dong S , et al. (2014) Yes -
3 Support De novo genic mutations among a Chinese autism spectrum disorder cohort. Wang T , et al. (2016) Yes -
Rare Variants   (9)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
c.586dupA p.Asp195fs frameshift_variant De novo - Simplex 22542183 Iossifov I , et al. (2012)
c.174_175insA p.Arg58fs frameshift_variant De novo - Simplex 25284784 Dong S , et al. (2014)
c.3264C>A p.Cys1088Ter stop_gained De novo - - 27824329 Wang T , et al. (2016)
c.3139del p.Thr1047HisfsTer31 frameshift_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.3139del p.Thr1047HisfsTer31 frameshift_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.4045G>T p.Ala1349Ser missense_variant Familial Maternal - 27824329 Wang T , et al. (2016)
c.981C>G p.Tyr327Ter stop_gained Familial Maternal - 27824329 Wang T , et al. (2016)
c.3430C>T p.Arg1144Ter stop_gained Familial Paternal - 27824329 Wang T , et al. (2016)
c.3522_3523del p.Gln1174HisfsTer2 frameshift_variant Unknown Not maternal - 27824329 Wang T , et al. (2016)
Common Variants  

No common variants reported.

SFARI Gene score
2

Strong Candidate

De novo loss-of-function frameshift variants in the RIMS1 gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A third de novo LoF variant in NCKAP1 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.

2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

04-01-2017
2

Initial score established: 2

Description

De novo loss-of-function frameshift variants in the RIMS1 gene have been identified in two unrelated ASD cases from the Simons Simplex Collection (PMIDs 22542183, 25284784); no similar indels were observed in controls. A third de novo LoF variant in NCKAP1 was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016.

CNVs associated with RIMS1(1 CNVs)
6q13 8 Deletion 16  /  28
Interaction Table
Interactor Symbol Interactor Name Interactor Organism Interactor Type Entrez ID Uniprot ID
RAB26 Ras-related protein Rab-26 Mouse Protein Binding 328778 Q504M8
RAB37 Ras-related protein Rab-37 Mouse Protein Binding 58222 Q9JKM7
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