DNTTIP1

deoxynucleotidyltransferase terminal interacting protein 1, the group of MiDAC complex subunits

Basic information

Region (hg38): 20:45791954-45811427

Previous symbols: [ "C20orf167" ]

Links

ENSG00000101457 ∙ NCBI:116092 ∙ OMIM:611388 ∙ HGNC:16160 ∙ Uniprot:Q9H147 ∙ 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 DNTTIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNTTIP1 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in DNTTIP1

This is a list of pathogenic ClinVar variants found in the DNTTIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-45792015-C-G		not specified	Uncertain significance (Jan 04, 2024)
20-45792023-G-A		not specified	Uncertain significance (Mar 25, 2024)
20-45793924-C-A		not specified	Uncertain significance (Oct 04, 2022)
20-45793982-G-C		not specified	Uncertain significance (Jan 19, 2024)
20-45795357-G-A		not specified	Uncertain significance (Sep 15, 2021)
20-45795358-C-G		not specified	Uncertain significance (May 18, 2022)
20-45795360-G-A		not specified	Uncertain significance (Mar 20, 2024)
20-45795399-G-A		not specified	Likely benign (May 09, 2022)
20-45801433-A-C		not specified	Uncertain significance (Nov 07, 2023)
20-45802027-T-C		not specified	Uncertain significance (Jun 07, 2023)
20-45802039-G-A		not specified	Uncertain significance (Aug 17, 2021)
20-45803373-C-G		not specified	Uncertain significance (Jun 16, 2023)
20-45811069-T-A		not specified	Uncertain significance (Oct 12, 2022)
20-45811166-C-T		not specified	Uncertain significance (Jun 10, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNTTIP1	protein_coding	protein_coding	ENST00000372622	13	19491

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.727	0.273	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.12	103	184	0.560	0.0000109	2114
Missense in Polyphen		20	36.385	0.54967		453
Synonymous	1.14	52	63.5	0.819	0.00000348	648
Loss of Function	3.53	4	21.8	0.183	0.00000114	249

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.0000552	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000442	0.0000439
Middle Eastern	0.0000552	0.0000544
South Asian	0.00	0.00
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro) (PubMed:11473582). Also acts as a transcriptional regulator, binding to the consensus sequence 5'- GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA. {ECO:0000269|PubMed:11473582, ECO:0000269|PubMed:23874396, ECO:0000305|PubMed:25653165}.

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.617
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.95

Haploinsufficiency Scores

• pHI: 0.304
• hipred: Y
• hipred_score: 0.606
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.863

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnttip1

Gene ontology

• Cellular component: histone deacetylase complex;nucleus;nucleoplasm;nucleolus
• Molecular function: DNA binding;protein binding;nucleosome binding;protein homodimerization activity