MARVELD1

MARVEL domain containing 1, the group of MARVEL domain containing

Basic information

Region (hg38): 10:97713173-97718150

Previous symbols: [ "MRVLDC1" ]

Links

ENSG00000155254 ∙ NCBI:83742 ∙ OMIM:616970 ∙ HGNC:28674 ∙ Uniprot:Q9BSK0 ∙ 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 MARVELD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MARVELD1 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			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in MARVELD1

This is a list of pathogenic ClinVar variants found in the MARVELD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-97713889-C-T		not specified	Uncertain significance (Jun 21, 2022)
10-97713893-C-G		not specified	Uncertain significance (Dec 20, 2022)
10-97713938-G-C		not specified	Uncertain significance (Jul 25, 2023)
10-97713970-G-A		not specified	Uncertain significance (Oct 13, 2023)
10-97713983-T-G		not specified	Uncertain significance (Nov 25, 2024)
10-97714096-G-A		not specified	Uncertain significance (Nov 27, 2023)
10-97714108-C-T		not specified	Uncertain significance (Nov 22, 2023)
10-97714148-G-A		not specified	Uncertain significance (Jan 03, 2025)
10-97714153-C-T		not specified	Uncertain significance (Apr 25, 2022)
10-97714216-G-A		not specified	Uncertain significance (May 20, 2024)
10-97714256-A-G		not specified	Uncertain significance (Dec 11, 2023)
10-97714271-C-A		not specified	Likely benign (Sep 10, 2024)
10-97714303-G-A		not specified	Uncertain significance (Jan 18, 2023)
10-97714304-C-G		not specified	Uncertain significance (Apr 07, 2023)
10-97714333-C-G		not specified	Uncertain significance (Sep 04, 2024)
10-97714361-G-T		not specified	Uncertain significance (May 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MARVELD1	protein_coding	protein_coding	ENST00000285605	1	4978

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.360	0.593	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.21	60	92.9	0.646	0.00000414	1079
Missense in Polyphen		25	45.027	0.55522		493
Synonymous	0.420	43	46.7	0.922	0.00000219	400
Loss of Function	1.56	1	4.62	0.216	2.00e-7	46

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Microtubule-associated protein that exhibits cell cycle- dependent localization and can inhibit cell proliferation and migration. {ECO:0000250}.

Recessive Scores

• pRec: 0.135

Haploinsufficiency Scores

• pHI: 0.188
• ghis: 0.666

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Marveld1

Gene ontology

• Biological process: cell cycle;myelination
• Cellular component: nucleus;cytoplasm;cytoskeleton;plasma membrane;integral component of membrane
• Molecular function: structural constituent of myelin sheath