DDT

D-dopachrome tautomerase

Basic information

Region (hg38): 22:23970542-23980525

Links

ENSG00000099977

∙ NCBI:1652 ∙ OMIM:602750 ∙ HGNC:2732 ∙ Uniprot:P30046 ∙ 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 DDT gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DDT 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in DDT

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

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

Position	Type	Phenotype	Significance	ClinVar
22-23971323-G-C		not specified	Uncertain significance (Mar 07, 2023)	2494969
22-23971585-A-G		not specified	Uncertain significance (Feb 10, 2022)	2351644

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DDT	protein_coding	protein_coding	ENST00000398344	3	9107

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.330	0.498	124687	0	185	124872	0.000741

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0328	15	14.6	1.02	8.92e-7	756
Missense in Polyphen		4	5.9825	0.66862		287
Synonymous	-0.716	7	4.97	1.41	2.98e-7	264
Loss of Function	0.619	0	0.446	0.00	1.86e-8	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00209	0.00209
Ashkenazi Jewish	0.000701	0.000701
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000976	0.000976
Middle Eastern	0.00	0.00
South Asian	0.000393	0.000393
Other	0.000494	0.000494

dbNSFP

Source: dbNSFP

Function: FUNCTION: Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI).;

Haploinsufficiency Scores

pHI: 0.129
hipred: N
hipred_score: 0.112
ghis: 0.437

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.283

Mouse Genome Informatics

Gene name: Ddt
Phenotype

Gene ontology

Biological process: negative regulation of macrophage chemotaxis;positive regulation of tumor necrosis factor production;melanin biosynthetic process;positive regulation of inflammatory response;positive regulation of ERK1 and ERK2 cascade
Cellular component: extracellular space;cytoplasm;extracellular exosome
Molecular function: dopachrome isomerase activity;cytokine receptor binding;D-dopachrome decarboxylase activity;phenylpyruvate tautomerase activity