MCL1
MCL1 apoptosis regulator, BCL2 family member, the group of BCL2 family
Basic information
Region (hg38): 1:150560895-150579738
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 MCL1 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 | 11 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 8 | 2 | 3 |
Variants in MCL1
This is a list of pathogenic ClinVar variants found in the MCL1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-150560949-T-A | Ectopia lentis | Likely benign (Jun 14, 2016) | ||
| 1-150577390-T-C | not specified | Likely benign (Mar 07, 2024) | ||
| 1-150577397-C-A | High myopia | Uncertain significance (Dec 17, 2018) | ||
| 1-150577426-A-G | not specified | Likely benign (Jun 10, 2024) | ||
| 1-150577468-A-G | not specified | Likely benign (Jul 19, 2023) | ||
| 1-150578251-C-T | not specified | Uncertain significance (Dec 02, 2021) | ||
| 1-150578448-T-C | Benign (Mar 05, 2018) | |||
| 1-150578834-C-A | Benign (Mar 29, 2018) | |||
| 1-150578858-C-G | not specified | Uncertain significance (Sep 22, 2023) | ||
| 1-150579100-A-G | not specified | Uncertain significance (Aug 19, 2021) | ||
| 1-150579173-T-C | Benign (Dec 31, 2019) | |||
| 1-150579209-G-C | not specified | Uncertain significance (Aug 02, 2021) | ||
| 1-150579224-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
| 1-150579227-T-G | not specified | Uncertain significance (Nov 03, 2022) | ||
| 1-150579398-G-A | not specified | Uncertain significance (Jul 26, 2021) | ||
| 1-150579400-G-A | not specified | Uncertain significance (May 05, 2023) | ||
| 1-150579419-T-A | not specified | Uncertain significance (Sep 08, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MCL1 | protein_coding | protein_coding | ENST00000369026 | 3 | 5035 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.963 | 0.0365 | 118455 | 0 | 2 | 118457 | 0.00000844 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.364 | 208 | 194 | 1.07 | 0.00000871 | 2211 |
| Missense in Polyphen | 38 | 54.381 | 0.69877 | 627 | ||
| Synonymous | -0.490 | 92 | 86.2 | 1.07 | 0.00000400 | 778 |
| Loss of Function | 2.97 | 0 | 10.3 | 0.00 | 4.49e-7 | 116 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000183 | 0.0000183 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in the regulation of apoptosis versus cell survival, and in the maintenance of viability but not of proliferation. Mediates its effects by interactions with a number of other regulators of apoptosis. Isoform 1 inhibits apoptosis. Isoform 2 promotes apoptosis. {ECO:0000269|PubMed:10766760, ECO:0000269|PubMed:16543145}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);Apoptosis Modulation and Signaling;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Apoptosis;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced HIF-1 survival signaling;Apoptotic Signaling Pathway;Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex;Interleukin-4 and 13 signaling;PI3K-Akt Signaling Pathway;Direct p53 effectors;HIF-1-alpha transcription factor network;IL6-mediated signaling events;E2F transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.481
Intolerance Scores
- loftool
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 39.95
Haploinsufficiency Scores
- pHI
- 0.533
- hipred
- Y
- hipred_score
- 0.701
- ghis
- 0.568
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.981
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mcl1
- Phenotype
- cellular phenotype; endocrine/exocrine gland phenotype; 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); embryo phenotype; immune system phenotype; hematopoietic system phenotype; normal 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); reproductive system phenotype;
Gene ontology
- Biological process
- cell fate determination;multicellular organism development;intrinsic apoptotic signaling pathway in response to DNA damage;negative regulation of autophagy;cytokine-mediated signaling pathway;cellular homeostasis;response to cytokine;negative regulation of apoptotic process;protein transmembrane transport;extrinsic apoptotic signaling pathway in absence of ligand;positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway;negative regulation of anoikis;regulation of response to DNA damage stimulus;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;negative regulation of intrinsic apoptotic signaling pathway
- Cellular component
- nucleus;nucleoplasm;cytoplasm;mitochondrion;mitochondrial outer membrane;cytosol;membrane;integral component of membrane;Bcl-2 family protein complex
- Molecular function
- protein binding;protein transmembrane transporter activity;protein homodimerization activity;protein heterodimerization activity;BH3 domain binding