DMKN

dermokine

Basic information

Region (hg38): 19:35497220-35513658

Links

ENSG00000161249 ∙ NCBI:93099 ∙ OMIM:617211 ∙ HGNC:25063 ∙ Uniprot:Q6E0U4 ∙ 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 DMKN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DMKN 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			3	3		6
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	3	3	1

Variants in DMKN

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

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

Position	Type	Phenotype	Significance	ClinVar
19-35500571-C-T		not specified	Likely benign (Jun 22, 2021)
19-35511468-A-ACCACTGCTGCCG			Benign (Mar 28, 2018)
19-35511479-C-T		not specified	Likely benign (Aug 17, 2021)
19-35511488-T-C		not specified	Uncertain significance (Sep 14, 2021)
19-35513144-T-C		not specified	Likely benign (Oct 26, 2021)
19-35513178-C-T		not specified	Uncertain significance (Aug 10, 2021)
19-35513397-C-T		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DMKN	protein_coding	protein_coding	ENST00000339686	15	16439

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.34e-13	0.425	125505	0	243	125748	0.000967

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.198	263	272	0.966	0.0000147	3049
Missense in Polyphen		81	85.68	0.94538		964
Synonymous	-0.439	116	110	1.05	0.00000697	970
Loss of Function	1.32	23	30.9	0.745	0.00000156	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00428	0.00428
Ashkenazi Jewish	0.00	0.00
East Asian	0.00457	0.00458
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000353	0.000352
Middle Eastern	0.00457	0.00458
South Asian	0.000788	0.000784
Other	0.000815	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a soluble regulator of keratinocyte differentiation. {ECO:0000305}.

Recessive Scores

• pRec: 0.0717

Intolerance Scores

• loftool: 0.992
• rvis_EVS: 0.45
• rvis_percentile_EVS: 77.98

Haploinsufficiency Scores

• pHI: 0.371
• hipred: N
• hipred_score: 0.123
• ghis: 0.476

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0797

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dmkn

Gene ontology

• Biological process: cornified envelope assembly
• Cellular component: extracellular space
• Molecular function: protein binding