DNTT

DNA nucleotidylexotransferase, the group of DNA polymerases

Basic information

Region (hg38): 10:96304409-96338564

Links

ENSG00000107447

∙ NCBI:1791 ∙ OMIM:187410 ∙ HGNC:2983 ∙ Uniprot:P04053 ∙ 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 DNTT gene.

not_specified (64 variants)
not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNTT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004088.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				3 clinvar	1 clinvar	4
missense			61 clinvar	3 clinvar	1 clinvar	65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	6	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNTT	protein_coding	protein_coding	ENST00000371174	11	34237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.95e-10	0.725	125654	1	90	125745	0.000362

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.466	314	292	1.08	0.0000165	3347
Missense in Polyphen		122	112.8	1.0816		1291
Synonymous	-0.0165	107	107	1.00	0.00000614	943
Loss of Function	1.50	19	27.5	0.690	0.00000146	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000731	0.000731
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000478	0.000475
Middle Eastern	0.000109	0.000109
South Asian	0.000330	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells. {ECO:0000250|UniProtKB:P09838}.;
Pathway: Hematopoietic cell lineage - Homo sapiens (human);Non-homologous end-joining - Homo sapiens (human);Validated targets of C-MYC transcriptional repression;DNA-PK pathway in nonhomologous end joining (Consensus)

Recessive Scores

pRec: 0.926

Intolerance Scores

loftool: 0.900
rvis_EVS: -0.29
rvis_percentile_EVS: 33.42

Haploinsufficiency Scores

pHI: 0.133
hipred: Y
hipred_score: 0.755
ghis: 0.398

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.837

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Dntt
Phenotype: homeostasis/metabolism phenotype; normal phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); immune system phenotype;

Gene ontology

Biological process: DNA metabolic process;double-strand break repair via nonhomologous end joining;DNA modification;response to ATP;DNA biosynthetic process
Cellular component: nuclear chromatin;euchromatin;nucleus;nucleoplasm;cytosol;nuclear matrix
Molecular function: DNA binding;DNA-directed DNA polymerase activity;DNA nucleotidylexotransferase activity;protein binding;metal ion binding