MKRN1

makorin ring finger protein 1, the group of Ring finger proteins

Basic information

Region (hg38): 7:140453032-140479536

Links

ENSG00000133606 ∙ NCBI:23608 ∙ OMIM:607754 ∙ HGNC:7112 ∙ Uniprot:Q9UHC7 ∙ 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 MKRN1 gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MKRN1 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	1	0

Variants in MKRN1

This is a list of pathogenic ClinVar variants found in the MKRN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-140454584-G-A		not specified	Uncertain significance (Feb 17, 2024)
7-140454680-C-T		not specified	Uncertain significance (Sep 22, 2023)
7-140455097-G-A		not specified	Uncertain significance (Jan 06, 2023)
7-140455145-G-A		not specified	Uncertain significance (Sep 26, 2023)
7-140455201-C-T		not specified	Uncertain significance (Dec 21, 2022)
7-140456772-T-G		not specified	Uncertain significance (Jan 12, 2024)
7-140459020-G-A		not specified	Uncertain significance (Jun 03, 2022)
7-140459203-T-C		not specified	Uncertain significance (May 06, 2022)
7-140459721-G-C		not specified	Uncertain significance (Oct 06, 2022)
7-140459809-C-T		not specified	Uncertain significance (Nov 13, 2023)
7-140459811-C-T		not specified	Uncertain significance (Sep 07, 2022)
7-140459814-G-A		not specified	Uncertain significance (Feb 28, 2023)
7-140459871-G-C		not specified	Uncertain significance (Dec 02, 2021)
7-140471917-G-C		not specified	Uncertain significance (Mar 01, 2024)
7-140471932-C-G		not specified	Uncertain significance (Sep 17, 2021)
7-140471980-C-G		not specified	Uncertain significance (Sep 17, 2021)
7-140479251-G-T		not specified	Uncertain significance (Feb 02, 2022)
7-140479255-C-A			Likely benign (Jan 02, 2019)
7-140479256-G-C		not specified	Uncertain significance (Dec 13, 2023)
7-140479265-G-T		not specified	Uncertain significance (Jun 22, 2023)
7-140479286-G-T		not specified	Uncertain significance (Feb 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MKRN1	protein_coding	protein_coding	ENST00000255977	8	26530

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.994	0.00579	125742	0	6	125748	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	198	258	0.767	0.0000148	3140
Missense in Polyphen		31	68.204	0.45452		918
Synonymous	-1.21	111	96.0	1.16	0.00000589	897
Loss of Function	4.17	2	24.1	0.0829	0.00000130	301

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000442	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. These substrates include FILIP1, p53/TP53, CDKN1A and TERT. Keeps cells alive by suppressing p53/TP53 under normal conditions, but stimulates apoptosis by repressing CDKN1A under stress conditions. Acts as a negative regulator of telomerase. Has negative and positive effects on RNA polymerase II-dependent transcription. {ECO:0000269|PubMed:16785614, ECO:0000269|PubMed:19536131}.
• Pathway: Signal Transduction;Regulation of PTEN stability and activity;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;PTEN Regulation;PIP3 activates AKT signaling;AKT phosphorylates targets in the cytosol;Intracellular signaling by second messengers (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.294
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.720
• hipred: Y
• hipred_score: 0.522
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.723

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mkrn1
• Phenotype: normal phenotype

Gene ontology

• Biological process: protein polyubiquitination
• Cellular component: cellular_component;cytosol
• Molecular function: RNA binding;ubiquitin-protein transferase activity;protein binding;metal ion binding;ubiquitin protein ligase activity