MORC4

MORC family CW-type zinc finger 4, the group of Zinc fingers CW-type

Basic information

Region (hg38): X:106813871-107000212

Previous symbols: [ "ZCWCC2" ]

Links

ENSG00000133131 ∙ NCBI:79710 ∙ OMIM:300970 ∙ HGNC:23485 ∙ Uniprot:Q8TE76 ∙ 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 MORC4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MORC4 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			33	1	1	35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	2	2

Variants in MORC4

This is a list of pathogenic ClinVar variants found in the MORC4 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-106818560-A-G			Benign (May 25, 2021)
X-106818656-A-G		TBC1D8B-related disorder	Benign (Jan 13, 2024)
X-106818694-G-A			Benign (Jan 28, 2024)
X-106818695-G-A		Nephrotic syndrome, type 20	Uncertain significance (Mar 04, 2021)
X-106818708-A-C		not specified	Uncertain significance (May 04, 2023)
X-106818722-C-T		Nephrotic syndrome, type 20	Pathogenic (Aug 30, 2023)
X-106818723-G-A		not specified	Uncertain significance (Jan 17, 2024)
X-106818756-A-C		not specified	Uncertain significance (Sep 22, 2023)
X-106818757-C-T			Likely benign (Dec 21, 2023)
X-106818945-GT-G			Benign (May 25, 2021)
X-106820871-A-C		TBC1D8B-related disorder	Likely benign (Jan 10, 2023)
X-106820880-C-A		Nephrotic syndrome, type 20	Uncertain significance (-)
X-106820923-A-C		not specified	Uncertain significance (Dec 21, 2023)
X-106821006-C-T			Likely benign (Nov 15, 2023)
X-106821115-C-T			Benign (May 22, 2021)
X-106822026-C-G		not specified	Uncertain significance (Jan 03, 2024)
X-106822037-C-T		Nephrotic syndrome, type 20	Likely pathogenic (Mar 16, 2023)
X-106822043-G-A		TBC1D8B-related disorder	Uncertain significance (Jul 14, 2022)
X-106822128-G-A			Uncertain significance (Oct 06, 2022)
X-106822144-T-C			Uncertain significance (-)
X-106822179-A-G		not specified	Uncertain significance (Apr 25, 2022)
X-106822188-T-C		TBC1D8B-related disorder	Uncertain significance (Dec 21, 2022)
X-106822192-G-A			Likely benign (Mar 01, 2023)
X-106822197-C-T		not specified	Uncertain significance (Apr 17, 2023)
X-106822216-A-G			Likely benign (Sep 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MORC4	protein_coding	protein_coding	ENST00000355610	17	186374

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00217	125732	3	5	125740	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.36	260	330	0.789	0.0000242	6156
Missense in Polyphen		64	112.42	0.56931		2115
Synonymous	-0.898	130	118	1.11	0.00000845	1776
Loss of Function	4.68	3	31.2	0.0963	0.00000237	578

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000726	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000494	0.0000352
Middle Eastern	0.0000726	0.0000544
South Asian	0.00	0.00
Other	0.000229	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0830

Intolerance Scores

• loftool: 0.392
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.31

Haploinsufficiency Scores

• pHI: 0.155
• hipred: N
• hipred_score: 0.488
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.143

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Morc4

Gene ontology

• Cellular component: nucleoplasm
• Molecular function: protein binding;zinc ion binding