RBL1
RB transcriptional corepressor like 1
Basic information
Region (hg38): 20:36996349-37095997
Links
Phenotypes
GenCC
Source:
No genCC data.
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 RBL1 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 | 1 | |||||
| missense | 41 | 43 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 41 | 1 | 2 |
Variants in RBL1
This is a list of pathogenic ClinVar variants found in the RBL1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-36998805-A-G | not specified | Uncertain significance (Jun 10, 2022) | ||
| 20-36998832-C-T | not specified | Uncertain significance (May 08, 2024) | ||
| 20-37007537-T-A | Benign (May 25, 2018) | |||
| 20-37018330-C-A | not specified | Likely benign (Dec 14, 2021) | ||
| 20-37020697-T-A | not specified | Uncertain significance (Jun 22, 2023) | ||
| 20-37020730-C-T | not specified | Uncertain significance (Mar 07, 2023) | ||
| 20-37022736-C-T | not specified | Uncertain significance (Feb 10, 2022) | ||
| 20-37022748-A-G | not specified | Uncertain significance (Feb 17, 2024) | ||
| 20-37022813-G-T | not specified | Uncertain significance (Apr 04, 2024) | ||
| 20-37032741-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
| 20-37032835-A-C | not specified | Uncertain significance (Nov 30, 2021) | ||
| 20-37032855-T-G | not specified | Uncertain significance (Jul 12, 2023) | ||
| 20-37032865-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
| 20-37035236-C-T | Likely benign (May 25, 2018) | |||
| 20-37035254-T-C | not specified | Uncertain significance (Mar 08, 2024) | ||
| 20-37035268-C-T | not specified | Uncertain significance (Jun 05, 2023) | ||
| 20-37035290-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
| 20-37035379-C-T | not specified | Uncertain significance (Oct 06, 2022) | ||
| 20-37040158-C-T | not specified | Uncertain significance (Nov 15, 2021) | ||
| 20-37040216-T-C | not specified | Uncertain significance (Jan 05, 2022) | ||
| 20-37040227-G-A | not specified | Uncertain significance (Jun 16, 2024) | ||
| 20-37040264-C-T | not specified | Uncertain significance (Jan 10, 2023) | ||
| 20-37044100-G-A | not specified | Uncertain significance (May 05, 2023) | ||
| 20-37044118-C-A | not specified | Uncertain significance (Feb 14, 2024) | ||
| 20-37044131-C-G | not specified | Uncertain significance (Mar 15, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RBL1 | protein_coding | protein_coding | ENST00000373664 | 22 | 99647 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 2.93e-12 | 1.00 | 125626 | 0 | 122 | 125748 | 0.000485 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.22 | 492 | 574 | 0.857 | 0.0000301 | 7006 |
| Missense in Polyphen | 167 | 218.87 | 0.76301 | 2679 | ||
| Synonymous | 1.05 | 178 | 197 | 0.905 | 0.0000100 | 2027 |
| Loss of Function | 3.28 | 28 | 54.0 | 0.518 | 0.00000297 | 687 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000735 | 0.000722 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000490 | 0.000489 |
| Finnish | 0.0000962 | 0.0000924 |
| European (Non-Finnish) | 0.000729 | 0.000721 |
| Middle Eastern | 0.000490 | 0.000489 |
| South Asian | 0.000165 | 0.000163 |
| Other | 0.000817 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys- 20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation. Forms a complex with adenovirus E1A and with SV40 large T antigen. May bind and modulate functionally certain cellular proteins with which T and E1A compete for pocket binding. May act as a tumor suppressor.;
- Pathway
- TGF-beta signaling pathway - Homo sapiens (human);Cell cycle - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Cell Cycle;Mitotic G1-G1-S phases;Adipogenesis;TGF-beta Signaling Pathway;G1 to S cell cycle control;ID signaling pathway;Signal Transduction;Gene expression (Transcription);cyclins and cell cycle regulation;mets affect on macrophage differentiation;Generic Transcription Pathway;RNA Polymerase II Transcription;Transcription of E2F targets under negative control by DREAM complex;Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1;G0 and Early G1;Cyclin D associated events in G1;G1 Phase;SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription;Mitotic G1-G1/S phases;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;TGF_beta_Receptor;Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer;TP53 Regulates Transcription of Cell Cycle Genes;Transcriptional Regulation by TP53;Cell Cycle;Signaling by TGF-beta Receptor Complex;ID;Signaling by TGF-beta family members;Cell Cycle, Mitotic;Validated targets of C-MYC transcriptional repression;E2F transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.208
Intolerance Scores
- loftool
- 0.116
- rvis_EVS
- -0.82
- rvis_percentile_EVS
- 11.98
Haploinsufficiency Scores
- pHI
- 0.833
- hipred
- Y
- hipred_score
- 0.706
- ghis
- 0.618
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.774
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rbl1
- Phenotype
- craniofacial phenotype; muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); normal phenotype; vision/eye phenotype; digestive/alimentary phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; renal/urinary system phenotype; skeleton phenotype; immune system phenotype; respiratory system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; neoplasm;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;chromatin organization;cell cycle;regulation of mitotic cell cycle;negative regulation of gene expression;viral process;cell differentiation;regulation of lipid kinase activity;positive regulation of transcription by RNA polymerase II;regulation of cell division;negative regulation of G1/S transition of mitotic cell cycle;negative regulation of cellular senescence
- Cellular component
- chromatin;nucleus;nucleoplasm;transcription factor complex
- Molecular function
- RNA polymerase II regulatory region DNA binding;RNA polymerase II activating transcription factor binding;protein binding;transcription factor binding;promoter-specific chromatin binding