DUSP14

dual specificity phosphatase 14, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 17:37489890-37513501

Links

ENSG00000276023 ∙ NCBI:11072 ∙ OMIM:606618 ∙ HGNC:17007 ∙ Uniprot:O95147 ∙ 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 DUSP14 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP14 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in DUSP14

This is a list of pathogenic ClinVar variants found in the DUSP14 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-37512284-A-T		not specified	Uncertain significance (Jan 18, 2022)
17-37512318-C-T		not specified	Uncertain significance (May 03, 2023)
17-37512403-A-G		not specified	Uncertain significance (Jun 11, 2021)
17-37512426-G-C		not specified	Uncertain significance (Aug 16, 2021)
17-37512438-A-G		not specified	Uncertain significance (Jan 03, 2022)
17-37512454-T-C		not specified	Uncertain significance (Apr 25, 2022)
17-37512470-C-A		not specified	Uncertain significance (Jul 09, 2021)
17-37512472-A-G		not specified	Uncertain significance (Jan 09, 2024)
17-37512621-C-G		not specified	Uncertain significance (Oct 26, 2022)
17-37512666-G-A		not specified	Uncertain significance (Dec 15, 2022)
17-37512765-C-G		not specified	Uncertain significance (Nov 17, 2022)
17-37512810-A-G		not specified	Uncertain significance (Aug 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases.
• Pathway: Hypertrophy Model (Consensus)

Recessive Scores

• pRec: 0.139

Intolerance Scores

• rvis_EVS: -0.3
• rvis_percentile_EVS: 32.62

Haploinsufficiency Scores

• pHI: 0.524
• hipred: Y
• hipred_score: 0.593

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.683

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp14
• Phenotype: respiratory system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: inactivation of MAPK activity;peptidyl-tyrosine dephosphorylation
• Molecular function: RNA binding;protein tyrosine phosphatase activity;protein binding;MAP kinase tyrosine/serine/threonine phosphatase activity