DNTTIP2

deoxynucleotidyltransferase terminal interacting protein 2

Basic information

Region (hg38): 1:93866284-93879918

Links

ENSG00000067334 ∙ NCBI:30836 ∙ OMIM:611199 ∙ HGNC:24013 ∙ Uniprot:Q5QJE6 ∙ 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 DNTTIP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DNTTIP2 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			33	4		37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	4	0

Variants in DNTTIP2

This is a list of pathogenic ClinVar variants found in the DNTTIP2 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-93870695-G-C		not specified	Uncertain significance (Jan 11, 2023)
1-93870780-C-G		not specified	Uncertain significance (Apr 05, 2023)
1-93872092-C-T		not specified	Uncertain significance (Jul 31, 2024)
1-93872146-T-C		not specified	Uncertain significance (Feb 05, 2024)
1-93872178-G-C		not specified	Uncertain significance (Jul 27, 2022)
1-93872182-T-C		not specified	Uncertain significance (Jun 17, 2024)
1-93872193-T-G		not specified	Uncertain significance (Sep 04, 2024)
1-93872199-C-G		not specified	Uncertain significance (Sep 16, 2021)
1-93873123-C-T		not specified	Uncertain significance (Feb 10, 2023)
1-93873199-C-T		not specified	Likely benign (Mar 31, 2023)
1-93875661-T-G		not specified	Uncertain significance (Jan 26, 2022)
1-93875730-C-T		not specified	Uncertain significance (Mar 15, 2024)
1-93875763-C-A		not specified	Uncertain significance (Sep 10, 2024)
1-93876326-C-T		not specified	Uncertain significance (Mar 08, 2024)
1-93876359-C-T		not specified	Uncertain significance (Nov 08, 2022)
1-93876406-T-C		not specified	Uncertain significance (Jan 30, 2024)
1-93876430-T-G		not specified	Uncertain significance (Mar 01, 2024)
1-93876452-G-T		not specified	Uncertain significance (Jul 14, 2021)
1-93876560-C-T		not specified	Uncertain significance (Apr 18, 2023)
1-93876571-T-A		not specified	Uncertain significance (Jan 24, 2023)
1-93876596-T-C		not specified	Uncertain significance (Sep 03, 2024)
1-93876597-G-C		not specified	Uncertain significance (Sep 20, 2023)
1-93876601-A-C		not specified	Uncertain significance (Dec 28, 2022)
1-93876700-A-G		not specified	Uncertain significance (Jul 26, 2021)
1-93876743-C-T		not specified	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DNTTIP2	protein_coding	protein_coding	ENST00000436063	7	12102

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.35e-8	0.947	124613	0	23	124636	0.0000923

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.574	339	370	0.916	0.0000172	5014
Missense in Polyphen		55	77.91	0.70594		1141
Synonymous	-0.468	144	137	1.05	0.00000681	1385
Loss of Function	1.95	17	28.2	0.603	0.00000154	392

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000292	0.000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000560	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000909	0.0000885
Middle Eastern	0.0000560	0.0000556
South Asian	0.0000337	0.0000327
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates the transcriptional activity of DNTT and ESR1. May function as a chromatin remodeling protein. {ECO:0000269|PubMed:12786946, ECO:0000269|PubMed:15047147}.

Recessive Scores

• pRec: 0.0819

Intolerance Scores

• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.98

Haploinsufficiency Scores

• pHI: 0.416
• hipred: Y
• hipred_score: 0.524
• ghis: 0.508

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.561

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dnttip2

Gene ontology

• Cellular component: nucleus;nucleolus
• Molecular function: RNA binding