MORC1

protein-coding

MORC family CW-type zinc finger 1, the group of Zinc fingers CW-type

Gene summary

This gene encodes the human homolog of mouse morc and like the mouse protein it is testis-specific. Mouse studies support a testis-specific function since only male knockout mice are infertile; infertility is the only apparent defect. These studies further support a role for this protein early in spermatogenesis, possibly by affecting entry into apoptosis because testis from knockout mice show greatly increased numbers of apoptotic cells. [provided by RefSeq, Jan 2009]

Previous symbols:

MORC

MANE transcript

NM_014429.4

Inheritance

—

ClinVar variants

U:91B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr3:108,958,248-109,118,134

External References & Databases

Ensembl (ENSG00000114487)

Transcript & Mutation Effects

hg38 • Region Span ~159.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MORC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014429.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	3 clinvar	2 clinvar	6
missense			88 clinvar	8 clinvar	1 clinvar	97
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	91	11	3	105

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014429.4	RefSeq	NP_055244.3	28	MANE Select
ENST00000232603.10	Ensembl	ENSP00000232603.5	28	MANE Select
ENST00000483760.1	Ensembl	ENSP00000417282.1	27	Standard
ENST00000483760.2	Ensembl	ENSP00000417282.1	27	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

behavioral fear response
multicellular organism development
spermatogenesis
negative regulation of transposition
cell differentiation

Molecular Function

zinc ion binding

Cellular Component

male germ cell nucleus
nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000232603
Coding exons: 28
Length: 159904
Individuals with no LoFs: 125702
Homozygous LoFs: 0
Heterozygous LoFs: 46
Defined: 125748
p: 0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.45	395	485	0.814	0.0000238	6475
Missense (PolyPhen)		74	128.57	0.57558		1774
Synonymous	-0.0914	178	176	1.01	0.00000946	1709
Loss of Function	4.59	20	57.5	0.348	0.00000271	762

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00012	rare
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00035	0.00033	rare
Finnish	0.00033	0.00018	rare
European (Non-Finnish)	0.00022	0.00020	rare
South Asian	0.00013	0.00013	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for spermatogenesis. {ECO:0000250|UniProtKB:Q9WVL5}.;

Recessive Scores

pRec: 0.0988

Intolerance Scores

LoFtool: 0.706
RVIS EVS: 0.49
RVIS percentile EVS: 79.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0473

Gene Damage Prediction

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