DUSP10

dual specificity phosphatase 10, the group of MAP kinase phosphatases

Basic information

Region (hg38): 1:221701423-221742089

Links

ENSG00000143507 ∙ NCBI:11221 ∙ OMIM:608867 ∙ HGNC:3065 ∙ Uniprot:Q9Y6W6 ∙ 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 DUSP10 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP10 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in DUSP10

This is a list of pathogenic ClinVar variants found in the DUSP10 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-221702417-C-A		not specified	Uncertain significance (Aug 17, 2022)
1-221702507-T-A		not specified	Uncertain significance (Aug 22, 2023)
1-221702578-C-T		not specified	Uncertain significance (Jan 23, 2023)
1-221702606-C-T		not specified	Uncertain significance (Dec 12, 2023)
1-221702677-T-G		not specified	Uncertain significance (Oct 06, 2022)
1-221706188-C-T		not specified	Uncertain significance (Jun 03, 2022)
1-221706208-T-C		not specified	Uncertain significance (Feb 27, 2024)
1-221706244-C-T		not specified	Uncertain significance (Sep 14, 2022)
1-221706350-G-A		not specified	Likely benign (Mar 07, 2024)
1-221706382-C-A		not specified	Uncertain significance (Jul 26, 2022)
1-221706383-C-T		not specified	Uncertain significance (Aug 17, 2021)
1-221739137-C-T		not specified	Uncertain significance (Feb 17, 2023)
1-221739156-C-T		not specified	Uncertain significance (May 27, 2022)
1-221739194-T-C		not specified	Uncertain significance (Aug 18, 2023)
1-221739242-G-A		not specified	Uncertain significance (May 24, 2023)
1-221739362-C-A		not specified	Uncertain significance (Jan 09, 2024)
1-221739374-G-T		not specified	Uncertain significance (Nov 15, 2021)
1-221739396-T-C		not specified	Uncertain significance (Jan 16, 2024)
1-221739407-G-A		not specified	Uncertain significance (Dec 02, 2021)
1-221739417-T-C		not specified	Uncertain significance (Dec 08, 2021)
1-221739426-C-T		not specified	Uncertain significance (Feb 11, 2022)
1-221739450-C-A		not specified	Uncertain significance (Jun 06, 2023)
1-221739536-G-A		not specified	Uncertain significance (Nov 22, 2022)
1-221739623-C-T		not specified	Uncertain significance (Jul 08, 2022)
1-221739657-T-G		not specified	Uncertain significance (Nov 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP10	protein_coding	protein_coding	ENST00000366899	3	40753

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.834	0.166	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	233	290	0.803	0.0000169	3178
Missense in Polyphen		58	108.52	0.53445		1165
Synonymous	-0.479	131	124	1.05	0.00000814	987
Loss of Function	3.07	2	14.7	0.136	8.91e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000177	0.000177
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Protein phosphatase involved in the inactivation of MAP kinases. Has a specificity for the MAPK11/MAPK12/MAPK13/MAPK14 subfamily. It preferably dephosphorylates p38. {ECO:0000269|PubMed:10391943, ECO:0000269|PubMed:10597297, ECO:0000269|PubMed:22375048}.
• Pathway: MAPK signaling pathway - Homo sapiens (human);EGF-Ncore;Vitamin D Receptor Pathway;MAPK Signaling Pathway;Signal Transduction;ATF-2 transcription factor network;RAF-independent MAPK1/3 activation;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;Regulation of p38-alpha and p38-beta (Consensus)

Recessive Scores

• pRec: 0.152

Intolerance Scores

• loftool: 0.226
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.51

Haploinsufficiency Scores

• pHI: 0.716
• hipred: Y
• hipred_score: 0.825
• ghis: 0.570

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.984

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp10
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: inactivation of MAPK activity;regulation of adaptive immune response;protein dephosphorylation;negative regulation of epithelial cell migration;dephosphorylation;negative regulation of cell migration;response to lipopolysaccharide;peptidyl-threonine dephosphorylation;negative regulation of JUN kinase activity;negative regulation of protein kinase activity by regulation of protein phosphorylation;positive regulation of regulatory T cell differentiation;negative regulation of JNK cascade;oligodendrocyte differentiation;negative regulation of oligodendrocyte differentiation;negative regulation of epithelial cell proliferation;negative regulation of respiratory burst involved in inflammatory response;negative regulation of ERK1 and ERK2 cascade;regulation of brown fat cell differentiation;negative regulation of p38MAPK cascade;negative regulation of epithelium regeneration;peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity
• Cellular component: nucleus;nucleoplasm;cytoplasm;Golgi apparatus;cytosol;nuclear speck
• Molecular function: protein tyrosine phosphatase activity;protein binding;protein tyrosine/serine/threonine phosphatase activity;protein tyrosine/threonine phosphatase activity;JUN kinase binding;phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity;MAP kinase phosphatase activity;mitogen-activated protein kinase p38 binding