DUSP18

dual specificity phosphatase 18, the group of Atypical dual specificity phosphatases

Basic information

Region (hg38): 22:30652051-30667887

Links

ENSG00000167065 ∙ NCBI:150290 ∙ OMIM:611446 ∙ HGNC:18484 ∙ Uniprot:Q8NEJ0 ∙ 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 DUSP18 gene.

• not_specified (31 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUSP18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152511.5. 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			30	1		31
nonsense						0
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DUSP18	protein_coding	protein_coding	ENST00000334679	1	15840

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.120	0.788	125636	0	112	125748	0.000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.107	115	118	0.972	0.00000710	1244
Missense in Polyphen		31	36.045	0.86004		396
Synonymous	0.483	43	47.2	0.911	0.00000296	375
Loss of Function	1.34	2	5.35	0.374	3.13e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000673	0.000673
Ashkenazi Jewish	0.00	0.00
East Asian	0.00283	0.00283
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000792	0.0000791
Middle Eastern	0.00283	0.00283
South Asian	0.00121	0.00121
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine. In vitro, dephosphorylates p-nitrophenyl phosphate (pNPP). {ECO:0000269|PubMed:12408986, ECO:0000269|PubMed:12591617}.

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.574
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.220
• hipred: N
• hipred_score: 0.248
• ghis: 0.522

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dusp18

Gene ontology

• Biological process: inactivation of MAPK activity;dephosphorylation;peptidyl-tyrosine dephosphorylation;peptidyl-threonine dephosphorylation
• Cellular component: nucleus;nucleoplasm;cytoplasm;mitochondrial inner membrane
• Molecular function: protein tyrosine phosphatase activity;protein tyrosine/serine/threonine phosphatase activity;phosphatase activity;MAP kinase tyrosine/serine/threonine phosphatase activity