MORF4L1
mortality factor 4 like 1, the group of EMSY complex|Tip60/Nua4 histone acetyltransferase complex subunits
Basic information
Region (hg38): 15:78810487-78903078
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 MORF4L1 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 | 10 | 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 | 10 | 1 | 0 |
Variants in MORF4L1
This is a list of pathogenic ClinVar variants found in the MORF4L1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 15-78811124-G-C | not specified | Uncertain significance (Apr 08, 2024) | ||
| 15-78811153-G-T | not specified | Uncertain significance (Jun 23, 2023) | ||
| 15-78811165-A-G | not specified | Uncertain significance (Feb 06, 2024) | ||
| 15-78811205-T-C | not specified | Uncertain significance (Feb 13, 2024) | ||
| 15-78811214-C-T | not specified | Uncertain significance (Dec 31, 2023) | ||
| 15-78873045-A-G | not specified | Uncertain significance (May 09, 2023) | ||
| 15-78884974-G-T | not specified | Uncertain significance (Jun 30, 2024) | ||
| 15-78884978-G-C | not specified | Uncertain significance (Nov 17, 2022) | ||
| 15-78884986-C-T | not specified | Uncertain significance (Apr 25, 2022) | ||
| 15-78884998-T-A | not specified | Likely benign (May 09, 2023) | ||
| 15-78885041-C-G | not specified | Uncertain significance (Jan 23, 2024) | ||
| 15-78885067-C-A | not specified | Uncertain significance (Sep 23, 2023) | ||
| 15-78886158-C-T | not specified | Uncertain significance (May 14, 2024) | ||
| 15-78886182-T-C | not specified | Uncertain significance (Sep 22, 2023) | ||
| 15-78891502-G-C | not specified | Uncertain significance (Oct 03, 2022) | ||
| 15-78891513-A-G | not specified | Uncertain significance (Oct 26, 2022) | ||
| 15-78892225-T-C | not specified | Uncertain significance (May 20, 2024) | ||
| 15-78893608-C-T | not specified | Uncertain significance (Jul 25, 2024) | ||
| 15-78894883-A-G | not specified | Uncertain significance (Sep 07, 2022) | ||
| 15-78896997-A-G | not specified | Uncertain significance (Jun 29, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MORF4L1 | protein_coding | protein_coding | ENST00000331268 | 13 | 87647 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.993 | 0.00661 | 125731 | 0 | 3 | 125734 | 0.0000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.59 | 133 | 195 | 0.681 | 0.0000102 | 2369 |
| Missense in Polyphen | 8 | 37.676 | 0.21234 | 568 | ||
| Synonymous | -0.333 | 74 | 70.4 | 1.05 | 0.00000387 | 660 |
| Loss of Function | 4.14 | 2 | 23.8 | 0.0841 | 0.00000119 | 298 |
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) | 0.0000179 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. The NuA4 complex ATPase and helicase activities seem to be, at least in part, contributed by the association of RUVBL1 and RUVBL2 with EP400. NuA4 may also play a direct role in DNA repair when directly recruited to sites of DNA damage. Also component of the mSin3A complex which acts to repress transcription by deacetylation of nucleosomal histones. Required for homologous recombination repair (HRR) and resistance to mitomycin C (MMC). Involved in the localization of PALB2, BRCA2 and RAD51, but not BRCA1, to DNA-damage foci. {ECO:0000269|PubMed:14966270, ECO:0000269|PubMed:20332121}.;
- Pathway
- Pathways Affected in Adenoid Cystic Carcinoma;Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization
(Consensus)
Recessive Scores
- pRec
- 0.196
Intolerance Scores
- loftool
- 0.587
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 49.76
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.840
- ghis
- 0.680
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- 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
- Morf4l1
- Phenotype
- growth/size/body region 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); homeostasis/metabolism phenotype; cellular phenotype; embryo phenotype; respiratory system phenotype; liver/biliary 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); hematopoietic 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); immune system phenotype;
Gene ontology
- Biological process
- double-strand break repair via homologous recombination;chromatin silencing;cell population proliferation;histone acetylation;histone deacetylation;regulation of growth;histone H4 acetylation;histone H2A acetylation
- Cellular component
- histone acetyltransferase complex;nucleoplasm;Sin3 complex;nuclear speck;NuA4 histone acetyltransferase complex
- Molecular function
- chromatin binding;protein binding;protein N-terminus binding