ST14

ST14 transmembrane serine protease matriptase, the group of Type II transmembrane serine proteases

Basic information

Region (hg38): 11:130159782-130210362

Previous symbols: [ "PRSS14" ]

Links

ENSG00000149418 ∙ NCBI:6768 ∙ OMIM:606797 ∙ HGNC:11344 ∙ Uniprot:Q9Y5Y6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autosomal recessive congenital ichthyosis 11 (Strong), mode of inheritance: AR
• autosomal recessive congenital ichthyosis 11 (Strong), mode of inheritance: AR
• autosomal recessive congenital ichthyosis 11 (Strong), mode of inheritance: AR
• autosomal recessive congenital ichthyosis 11 (Strong), mode of inheritance: AR
• autosomal recessive congenital ichthyosis 11 (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ichthyosis, congenital, autosomal recessive 11	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Dermatologic	17273967; 18445049; 18843291

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ST14 gene.

• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST14 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				26	17	43
missense			50	8	10	68
nonsense	1	1				2
start loss						0
frameshift	2	1				3
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region			1	6	4	11
non coding				4	28	32
Total	3	3	50	38	55

Variants in ST14

This is a list of pathogenic ClinVar variants found in the ST14 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-130159982-G-A		Autosomal recessive congenital ichthyosis 11	Pathogenic (Jul 01, 2008)
11-130159985-G-A			Benign (Sep 13, 2023)
11-130160000-C-T			Benign (Jan 19, 2022)
11-130160015-C-T			Likely benign (Mar 03, 2023)
11-130160029-G-C		Inborn genetic diseases	Uncertain significance (Mar 29, 2024)
11-130160029-G-T		Inborn genetic diseases	Uncertain significance (Dec 21, 2023)
11-130160050-C-T		Inborn genetic diseases	Uncertain significance (Oct 17, 2023)
11-130160053-G-A		Inborn genetic diseases	Uncertain significance (May 06, 2024)
11-130160143-C-T			Benign (Nov 12, 2018)
11-130188097-C-T			Benign (Nov 19, 2023)
11-130188152-A-G			Benign (Jan 29, 2024)
11-130188187-C-T		Inborn genetic diseases	Uncertain significance (Apr 18, 2024)
11-130188212-C-T			Likely benign (Dec 31, 2019)
11-130188217-T-C			Uncertain significance (Jul 29, 2021)
11-130188220-T-A			Uncertain significance (Feb 01, 2024)
11-130188270-C-T			Likely pathogenic (Aug 01, 2019)
11-130188274-G-A		Autosomal recessive congenital ichthyosis 11	Likely pathogenic (Jun 25, 2020)
11-130188511-G-A			Benign (Jan 25, 2024)
11-130188541-C-T		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
11-130188542-G-A			Benign (Jan 25, 2024)
11-130188595-G-C			Uncertain significance (Oct 20, 2021)
11-130188603-C-T			Benign (Jan 25, 2024)
11-130188614-A-G		Inborn genetic diseases	Likely benign (Mar 26, 2024)
11-130188618-C-T			Likely benign (Dec 01, 2023)
11-130188645-G-C		Inborn genetic diseases	Uncertain significance (Jul 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ST14	protein_coding	protein_coding	ENST00000278742	19	50815

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.560	0.440	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	457	539	0.848	0.0000385	5582
Missense in Polyphen		121	202.74	0.59682		2114
Synonymous	0.378	237	245	0.969	0.0000203	1646
Loss of Function	4.71	9	41.9	0.215	0.00000205	481

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000709	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site. Involved in the terminal differentiation of keratinocytes through prostasin (PRSS8) activation and filaggrin (FLG) processing. {ECO:0000269|PubMed:18843291}.
• Disease: DISEASE: Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269|PubMed:17273967, ECO:0000269|PubMed:18843291}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: MicroRNAs in cancer - Homo sapiens (human);Keratinization;Developmental Biology;Formation of the cornified envelope (Consensus)

Recessive Scores

• pRec: 0.336

Intolerance Scores

• loftool: 0.0733
• rvis_EVS: -0.35
• rvis_percentile_EVS: 29.59

Haploinsufficiency Scores

• pHI: 0.439
• hipred: Y
• hipred_score: 0.678
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.800

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: St14
• Phenotype: endocrine/exocrine gland 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; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; immune system phenotype; vision/eye phenotype

Gene ontology

• Biological process: neural tube closure;proteolysis;keratinocyte differentiation;epithelial cell morphogenesis involved in placental branching;cornification
• Cellular component: extracellular space;plasma membrane;integral component of plasma membrane;basolateral plasma membrane;extrinsic component of plasma membrane
• Molecular function: endopeptidase activity;serine-type endopeptidase activity;serine-type peptidase activity