MORC3

MORC family CW-type zinc finger 3, the group of Zinc fingers CW-type

Basic information

Region (hg38): 21:36320188-36386148

Previous symbols: [ "ZCWCC3" ]

Links

ENSG00000159256 ∙ NCBI:23515 ∙ OMIM:610078 ∙ HGNC:23572 ∙ Uniprot:Q14149 ∙ 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 MORC3 gene.

• Inborn genetic diseases (27 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MORC3 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	1	2
missense			25	2		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	3	1

Variants in MORC3

This is a list of pathogenic ClinVar variants found in the MORC3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
21-36320283-C-G		not specified	Uncertain significance (Sep 29, 2022)
21-36333715-A-G		not specified	Uncertain significance (Feb 28, 2024)
21-36336940-A-G		not specified	Uncertain significance (Oct 10, 2023)
21-36337769-G-A		not specified	Uncertain significance (Jan 12, 2024)
21-36337829-G-T		not specified	Uncertain significance (Dec 19, 2022)
21-36337871-C-G		not specified	Uncertain significance (Sep 14, 2022)
21-36337938-A-G		not specified	Uncertain significance (Sep 20, 2023)
21-36338842-A-G		not specified	Uncertain significance (Jan 03, 2024)
21-36344918-A-G		not specified	Uncertain significance (Jan 20, 2023)
21-36359959-C-T		not specified	Uncertain significance (Dec 19, 2022)
21-36360024-G-A		not specified	Likely benign (Oct 03, 2022)
21-36360030-A-G			Likely benign (May 01, 2023)
21-36360188-T-G		not specified	Uncertain significance (Apr 07, 2022)
21-36360218-G-C		not specified	Uncertain significance (Jan 26, 2022)
21-36364157-A-G		not specified	Uncertain significance (Sep 14, 2022)
21-36364174-C-T		not specified	Uncertain significance (May 17, 2023)
21-36364175-A-G		not specified	Uncertain significance (May 23, 2023)
21-36364217-A-C		not specified	Uncertain significance (May 05, 2023)
21-36368988-C-G		not specified	Uncertain significance (May 03, 2023)
21-36369010-C-T		not specified	Uncertain significance (May 17, 2023)
21-36369052-C-G		not specified	Uncertain significance (Jan 18, 2023)
21-36369175-G-A		not specified	Likely benign (Mar 08, 2024)
21-36369221-C-G		not specified	Uncertain significance (Jan 16, 2024)
21-36369252-A-G			Benign (Jun 08, 2017)
21-36369256-T-C		not specified	Uncertain significance (May 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MORC3	protein_coding	protein_coding	ENST00000400485	17	65960

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000155	124780	0	14	124794	0.0000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.89	320	502	0.637	0.0000262	6272
Missense in Polyphen		48	183.72	0.26127		2338
Synonymous	0.0374	177	178	0.996	0.0000100	1655
Loss of Function	5.68	5	47.1	0.106	0.00000241	594

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000159	0.000159
Ashkenazi Jewish	0.0000999	0.0000993
East Asian	0.0000556	0.0000556
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000628	0.0000618
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Nuclear factor which forms MORC3-NBs (nuclear bodies) via an ATP-dependent mechanism (PubMed:20501696). Sumoylated MORC3-NBs can also associate with PML-NBs (PubMed:20501696). Recruits TP53 and SP100 to PML-NBs, thus regulating TP53 activity (PubMed:17332504). Binds RNA in vitro (PubMed:11927593). May be required for influenza A transcription during viral infection (PubMed:26202233). {ECO:0000269|PubMed:11927593, ECO:0000269|PubMed:17332504, ECO:0000269|PubMed:20501696, ECO:0000269|PubMed:26202233}.
• Pathway: Interactome of polycomb repressive complex 2 (PRC2) (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.202
• rvis_EVS: -0.71
• rvis_percentile_EVS: 14.57

Haploinsufficiency Scores

• pHI: 0.589
• hipred: Y
• hipred_score: 0.717
• ghis: 0.624

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.420

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Morc3
• 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)

Gene ontology

• Biological process: protein phosphorylation;cell aging;post-embryonic development;viral process;peptidyl-serine phosphorylation;negative regulation of fibroblast proliferation;protein stabilization;maintenance of protein location in nucleus
• Cellular component: nucleoplasm;nuclear matrix;PML body
• Molecular function: RNA binding;zinc ion binding