DUSP15

dual specificity phosphatase 15, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 20:31847637-31870664

Previous symbols: [ "C20orf57" ]

Links

ENSG00000149599 ∙ NCBI:128853 ∙ OMIM:616776 ∙ HGNC:16236 ∙ Uniprot:Q9H1R2 ∙ 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 DUSP15 gene.

• not_specified (41 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080611.5. 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	1		41
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP15	protein_coding	protein_coding	ENST00000339738	7	23111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000371	0.375	125715	0	33	125748	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.397	132	120	1.10	0.00000667	1461
Missense in Polyphen		38	46.343	0.81998		521
Synonymous	-0.508	53	48.5	1.09	0.00000268	480
Loss of Function	0.409	9	10.4	0.863	5.29e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000614	0.0000614
Ashkenazi Jewish	0.00	0.00
East Asian	0.000116	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000201	0.000176
Middle Eastern	0.000116	0.000109
South Asian	0.000297	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May dephosphorylate MAPK13, ATF2, ERBB3, PDGFRB and SNX6 (PubMed:22792334). {ECO:0000269|PubMed:22792334}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.263
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0658

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp15

Gene ontology

• Biological process: transforming growth factor beta receptor signaling pathway;dephosphorylation;peptidyl-tyrosine dephosphorylation;regulation of cell population proliferation;positive regulation of JNK cascade
• Cellular component: cytosol;plasma membrane
• Molecular function: protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;phosphatase activity