DSC1

desmocollin 1, the group of Desmosomal cadherins

Basic information

Region (hg38): 18:31129236-31162856

Links

ENSG00000134765

∙ NCBI:1823 ∙ OMIM:125643 ∙ HGNC:3035 ∙ Uniprot:Q08554 ∙ 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 DSC1 gene.

not_specified (102 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024421.2. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			101 clinvar	1 clinvar	2 clinvar	104
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	102	1	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DSC1	protein_coding	protein_coding	ENST00000257198	16	33621

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.50e-16	0.663	125657	0	91	125748	0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0953	488	482	1.01	0.0000250	5859
Missense in Polyphen		164	197.04	0.83231		2404
Synonymous	-0.911	191	176	1.09	0.0000100	1692
Loss of Function	1.84	31	44.2	0.702	0.00000239	546

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000457	0.000456
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000383	0.000381
Finnish	0.000186	0.000185
European (Non-Finnish)	0.000481	0.000475
Middle Eastern	0.000383	0.000381
South Asian	0.000462	0.000457
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms. Linked to the keratinization of epithelial tissues.;
Pathway: Keratinization;Developmental Biology;Neutrophil degranulation;Innate Immune System;Immune System;Formation of the cornified envelope (Consensus)

Recessive Scores

pRec: 0.117

Intolerance Scores

loftool: 0.858
rvis_EVS: 0.76
rvis_percentile_EVS: 86.85

Haploinsufficiency Scores

pHI: 0.351
hipred: Y
hipred_score: 0.510
ghis: 0.454

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dsc1
Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; craniofacial phenotype; vision/eye phenotype; normal phenotype; immune system phenotype;

Gene ontology

Biological process: homophilic cell adhesion via plasma membrane adhesion molecules;keratinization;neutrophil degranulation;cornification
Cellular component: cornified envelope;plasma membrane;gap junction;membrane;integral component of membrane;desmosome;extracellular exosome;ficolin-1-rich granule membrane
Molecular function: calcium ion binding