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.

• not_specified (2 variants)

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. These statistics are base on transcript: NM_001084392.3. 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			2			2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	2	0	0

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

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