DUSP19

dual specificity phosphatase 19, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 2:183078559-183100008

Links

ENSG00000162999 ∙ ∙ OMIM:611437 ∙ HGNC:18894 ∙ Uniprot:Q8WTR2 ∙ 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 DUSP19 gene.

• not_specified (40 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP19 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080876.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			40			40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP19	protein_coding	protein_coding	ENST00000354221	4	21447

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0100	0.837	125726	0	20	125746	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0902	118	115	1.02	0.00000548	1433
Missense in Polyphen		20	24.102	0.8298		322
Synonymous	0.544	38	42.5	0.894	0.00000209	413
Loss of Function	1.15	4	7.36	0.543	3.08e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000620	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000125	0.000105
Middle Eastern	0.000164	0.000163
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a dual specificity toward Ser/Thr and Tyr-containing proteins. {ECO:0000269|PubMed:12479873}.
• Pathway: EGF-Ncore (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.522
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.09

Haploinsufficiency Scores

• pHI: 0.103
• hipred: Y
• hipred_score: 0.559
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.864

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp19

Gene ontology

• Biological process: negative regulation of protein kinase activity;activation of protein kinase activity;peptidyl-tyrosine dephosphorylation;regulation of MAP kinase activity;positive regulation of MAPK cascade;positive regulation of JUN kinase activity;negative regulation of JUN kinase activity;positive regulation of protein kinase activity;negative regulation of JNK cascade;positive regulation of JNK cascade
• Cellular component: cytoplasm
• Molecular function: protein tyrosine phosphatase activity;protein kinase inhibitor activity;MAP-kinase scaffold activity;protein binding;JUN kinase phosphatase activity;protein kinase activator activity;mitogen-activated protein kinase kinase kinase binding