MORC1

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

Basic information

Region (hg38): 3:108958248-109118134

Previous symbols: [ "MORC" ]

Links

ENSG00000114487 ∙ NCBI:27136 ∙ OMIM:603205 ∙ HGNC:7198 ∙ Uniprot:Q86VD1 ∙ 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 MORC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MORC1 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					2	2
missense			29	3	1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	3	3

Variants in MORC1

This is a list of pathogenic ClinVar variants found in the MORC1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-108958979-T-C		not specified	Uncertain significance (Nov 08, 2022)
3-108959003-G-A		not specified	Uncertain significance (Sep 12, 2023)
3-108959057-T-C		not specified	Uncertain significance (Jun 22, 2023)
3-108959120-C-G		not specified	Uncertain significance (Dec 27, 2023)
3-108963565-C-T		not specified	Uncertain significance (Jun 24, 2022)
3-108969671-G-T		not specified	Uncertain significance (Oct 20, 2023)
3-108979581-G-C		not specified	Uncertain significance (Apr 22, 2022)
3-108979644-T-C		not specified	Uncertain significance (Jan 26, 2022)
3-108979650-A-G		not specified	Uncertain significance (May 15, 2023)
3-108979659-T-C		not specified	Likely benign (Dec 19, 2022)
3-108984717-T-C		not specified	Uncertain significance (Oct 12, 2021)
3-108986890-A-T			Benign (Jul 06, 2018)
3-109000657-G-A		not specified	Uncertain significance (Nov 12, 2021)
3-109004872-T-C		not specified	Uncertain significance (Jun 18, 2024)
3-109005089-T-C		not specified	Uncertain significance (Jul 27, 2021)
3-109005095-T-A		not specified	Uncertain significance (Jul 12, 2022)
3-109032735-T-C		not specified	Uncertain significance (Jun 19, 2024)
3-109032811-A-G		not specified	Uncertain significance (Dec 21, 2022)
3-109035448-A-C		not specified	Uncertain significance (Jul 27, 2021)
3-109054830-G-A		not specified	Uncertain significance (May 24, 2024)
3-109054881-G-A		not specified	Uncertain significance (Sep 22, 2023)
3-109057382-A-G		not specified	Uncertain significance (Nov 07, 2022)
3-109057440-C-T		not specified	Likely benign (Jul 19, 2023)
3-109057451-T-C		not specified	Uncertain significance (May 15, 2023)
3-109061989-T-A			Benign (Jul 06, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MORC1	protein_coding	protein_coding	ENST00000232603	28	159904

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000588	1.00	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	395	485	0.814	0.0000238	6475
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000288	0.000272
Ashkenazi Jewish	0.00	0.00
East Asian	0.000352	0.000326
Finnish	0.000334	0.000185
European (Non-Finnish)	0.000215	0.000202
Middle Eastern	0.000352	0.000326
South Asian	0.000131	0.000131
Other	0.000340	0.000326

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0665
• hipred: N
• hipred_score: 0.233

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0473

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Morc1
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: behavioral fear response;multicellular organism development;spermatogenesis;negative regulation of transposition;cell differentiation;regulation of gene expression, epigenetic;DNA methylation involved in gamete generation;DNA hypermethylation;negative regulation of DNA-templated transcription, initiation
• Cellular component: male germ cell nucleus;nucleus
• Molecular function: zinc ion binding