MORF4L1

mortality factor 4 like 1, the group of EMSY complex|Tip60/Nua4 histone acetyltransferase complex subunits

Basic information

Region (hg38): 15:78810486-78898139

Links

ENSG00000185787 ∙ NCBI:10933 ∙ OMIM:607303 ∙ HGNC:16989 ∙ Uniprot:Q9UBU8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MORF4L1 gene.

• Inborn genetic diseases (8 variants)

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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	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
15-78811153-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)
15-78884978-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)
15-78886182-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)
15-78894883-A-G		not specified	Uncertain significance (Sep 07, 2022)
15-78896997-A-G		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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

• 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