MRFAP1L1

Morf4 family associated protein 1 like 1

Basic information

Region (hg38): 4:6707701-6709865

Links

ENSG00000178988 ∙ NCBI:114932 ∙ ∙ HGNC:28796 ∙ Uniprot:Q96HT8 ∙ 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 MRFAP1L1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRFAP1L1 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in MRFAP1L1

This is a list of pathogenic ClinVar variants found in the MRFAP1L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-6709317-T-G		not specified	Uncertain significance (Oct 26, 2022)
4-6709360-G-T		not specified	Likely benign (May 16, 2024)
4-6709362-C-A		not specified	Uncertain significance (Oct 05, 2023)
4-6709373-C-G		not specified	Uncertain significance (Apr 20, 2024)
4-6709385-A-T		not specified	Uncertain significance (Nov 21, 2022)
4-6709453-C-G		not specified	Uncertain significance (Mar 30, 2024)
4-6709472-G-C		not specified	Uncertain significance (Mar 31, 2022)
4-6709472-G-T		not specified	Likely benign (Jan 26, 2023)
4-6709515-T-C		not specified	Uncertain significance (Aug 14, 2023)
4-6709526-A-G		not specified	Uncertain significance (Jul 14, 2021)
4-6709533-T-G		not specified	Uncertain significance (Aug 10, 2021)
4-6709575-C-G		not specified	Uncertain significance (Aug 02, 2022)
4-6709609-G-T		not specified	Uncertain significance (Jul 12, 2022)
4-6709613-A-T		not specified	Uncertain significance (Nov 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRFAP1L1	protein_coding	protein_coding	ENST00000320848	1	2180

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00255	0.569	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.412	83	73.1	1.14	0.00000343	839
Missense in Polyphen		16	12.663	1.2636		134
Synonymous	-0.878	36	29.9	1.20	0.00000157	240
Loss of Function	0.310	4	4.73	0.846	2.07e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.355
• rvis_EVS: 0.13
• rvis_percentile_EVS: 62.74

Haploinsufficiency Scores

• pHI: 0.160
• hipred: Y
• hipred_score: 0.578
• ghis: 0.622

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Gene ontology

• Molecular function: protein binding;identical protein binding