MRFAP1

Morf4 family associated protein 1

Basic information

Region (hg38): 4:6640091-6642729

Links

ENSG00000179010 ∙ NCBI:93621 ∙ OMIM:616905 ∙ HGNC:24549 ∙ Uniprot:Q9Y605 ∙ 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 MRFAP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRFAP1 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
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in MRFAP1

This is a list of pathogenic ClinVar variants found in the MRFAP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-6640884-G-C		not specified	Uncertain significance (Nov 25, 2024)
4-6640889-G-C			Likely benign (Feb 01, 2023)
4-6640905-G-A		not specified	Uncertain significance (Sep 15, 2021)
4-6640923-G-A		not specified	Uncertain significance (Aug 21, 2023)
4-6640923-G-C		not specified	Uncertain significance (Feb 13, 2024)
4-6640935-G-A		not specified	Uncertain significance (Feb 06, 2025)
4-6640942-T-A		not specified	Uncertain significance (Mar 28, 2024)
4-6641005-G-T		not specified	Uncertain significance (Nov 10, 2024)
4-6641011-A-G		not specified	Uncertain significance (Apr 18, 2023)
4-6641047-A-G		not specified	Uncertain significance (May 21, 2024)
4-6641052-C-T		not specified	Uncertain significance (May 12, 2024)
4-6641083-C-T		not specified	Uncertain significance (Jun 17, 2024)
4-6641094-G-C		not specified	Uncertain significance (Feb 10, 2023)
4-6641137-G-A		not specified	Uncertain significance (Mar 27, 2023)
4-6641175-A-G		not specified	Uncertain significance (Jun 24, 2022)
4-6641176-A-G		not specified	Uncertain significance (Oct 07, 2024)
4-6641178-G-A		not specified	Uncertain significance (Oct 18, 2021)
4-6641205-G-C		not specified	Uncertain significance (Jan 29, 2025)
4-6641223-A-G		not specified	Uncertain significance (Aug 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRFAP1	protein_coding	protein_coding	ENST00000320912	1	2655

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.314	0.622	125708	0	2	125710	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.168	76	80.2	0.947	0.00000360	831
Missense in Polyphen		22	24.238	0.90768		269
Synonymous	-2.45	57	37.8	1.51	0.00000180	254
Loss of Function	1.43	1	4.13	0.242	1.77e-7	46

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.176
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.171
• hipred: Y
• hipred_score: 0.578
• ghis: 0.654

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.881

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrfap1
• Phenotype: normal phenotype

Gene ontology

• Cellular component: nucleus;cytosol;perinuclear region of cytoplasm
• Molecular function: protein binding