MKRN2OS

MKRN2 opposite strand

Basic information

Region (hg38): 3:12514933-12561059

Previous symbols: [ "MKRN2-AS1", "C3orf83" ]

Links

ENSG00000225526 ∙ NCBI:100129480 ∙ ∙ HGNC:40375 ∙ Uniprot:H3BPM6 ∙ 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 MKRN2OS gene.

• Inborn genetic diseases (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MKRN2OS 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			12	3		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	12	3	0

Variants in MKRN2OS

This is a list of pathogenic ClinVar variants found in the MKRN2OS region.

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

Position	Type	Phenotype	Significance	ClinVar
3-12516295-G-A			Likely benign (Jun 26, 2018)
3-12516432-A-G			Likely benign (Jun 14, 2018)
3-12516437-AC-A			Benign (Jun 28, 2018)
3-12516437-ACAAAAT-A			Likely benign (Sep 22, 2018)
3-12516437-ACAAAATAT-A			Benign (Jul 07, 2018)
3-12516439-AAAATATATG-A			Benign (Jul 07, 2018)
3-12516441-AATAT-A			Benign (Jul 13, 2018)
3-12516442-ATATATG-A			Benign (Aug 25, 2018)
3-12516442-ATATATGTGTG-A			Benign (Jun 30, 2018)
3-12516442-A-ATG			Likely benign (Aug 15, 2018)
3-12516442-A-ATGTG			Likely benign (Aug 15, 2018)
3-12516444-A-G			Benign (Aug 15, 2019)
3-12516444-ATATGTGTG-A			Likely benign (Dec 19, 2019)
3-12516446-A-G			Benign (Aug 15, 2019)
3-12516446-ATGTG-A			Benign (Aug 24, 2019)
3-12516446-ATGTGTG-A			Benign (Aug 05, 2019)
3-12516446-ATGTGTGTG-A			Benign (Aug 11, 2019)
3-12516446-ATGTGTGTGTG-A			Benign (Oct 29, 2019)
3-12516464-G-A			Likely benign (Sep 06, 2019)
3-12516464-G-C			Likely benign (Sep 15, 2020)
3-12516569-A-G			Likely benign (Jun 26, 2018)
3-12516606-T-C			Uncertain significance (Oct 24, 2022)
3-12516612-C-G			Uncertain significance (Dec 26, 2020)
3-12516627-A-G		Pontocerebellar hypoplasia type 2B • Pontoneocerebellar hypoplasia	Conflicting classifications of pathogenicity (Aug 09, 2022)
3-12516635-G-A		Pontocerebellar hypoplasia type 2B	Pathogenic (Jun 01, 2013)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MKRN2OS	protein_coding	protein_coding	ENST00000564146	4	46126

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000383	0.395	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.105	117	120	0.973	0.00000700	1460
Missense in Polyphen		32	35.771	0.89459		432
Synonymous	-1.09	60	50.2	1.20	0.00000335	406
Loss of Function	0.236	7	7.71	0.908	4.04e-7	98

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

Haploinsufficiency Scores

• ghis: 0.524

Mouse Genome Informatics

• Gene name: Mkrn2os