RIMKLB
Basic information
Region (hg38): 12:8681600-8783095
Previous symbols: [ "FAM80B" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIMKLB gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 11 | 11 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 11 | 0 | 0 |
Variants in RIMKLB
This is a list of pathogenic ClinVar variants found in the RIMKLB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-8713870-T-C | not specified | Uncertain significance (Sep 26, 2023) | ||
12-8713939-G-C | not specified | Uncertain significance (Mar 31, 2022) | ||
12-8714033-G-C | not specified | Uncertain significance (Mar 19, 2024) | ||
12-8749864-C-A | not specified | Uncertain significance (Feb 03, 2022) | ||
12-8749889-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
12-8749933-G-A | not specified | Uncertain significance (Aug 04, 2023) | ||
12-8752005-A-C | not specified | Uncertain significance (Jun 24, 2022) | ||
12-8752013-A-G | not specified | Uncertain significance (Mar 29, 2024) | ||
12-8773429-A-G | not specified | Uncertain significance (Sep 25, 2023) | ||
12-8773435-G-T | not specified | Uncertain significance (May 23, 2024) | ||
12-8773615-C-T | not specified | Uncertain significance (Dec 06, 2021) | ||
12-8773642-C-T | not specified | Uncertain significance (Sep 29, 2022) | ||
12-8773702-G-A | not specified | Uncertain significance (Feb 21, 2024) | ||
12-8773759-A-G | not specified | Uncertain significance (Jul 27, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RIMKLB | protein_coding | protein_coding | ENST00000357529 | 5 | 101496 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.593 | 0.407 | 124784 | 0 | 9 | 124793 | 0.0000361 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.34 | 131 | 231 | 0.567 | 0.0000139 | 2527 |
Missense in Polyphen | 27 | 68.251 | 0.3956 | 836 | ||
Synonymous | 0.00468 | 87 | 87.1 | 0.999 | 0.00000512 | 787 |
Loss of Function | 2.98 | 3 | 15.8 | 0.190 | 0.00000101 | 164 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000123 | 0.000123 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000928 | 0.0000928 |
European (Non-Finnish) | 0.0000354 | 0.0000353 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate. {ECO:0000250|UniProtKB:Q80WS1}.;
- Pathway
- Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Metabolism of amino acids and derivatives;Metabolism;Amino acid synthesis and interconversion (transamination)
(Consensus)
Recessive Scores
- pRec
- 0.0863
Intolerance Scores
- loftool
- 0.272
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.01
Haploinsufficiency Scores
- pHI
- 0.197
- hipred
- Y
- hipred_score
- 0.740
- ghis
- 0.463
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rimklb
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype;
Gene ontology
- Biological process
- cellular protein modification process;cellular amino acid biosynthetic process
- Cellular component
- cytoplasm;cytosol
- Molecular function
- ATP binding;metal ion binding;N-acetyl-L-aspartate-L-glutamate ligase activity;citrate-L-glutamate ligase activity