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.

• not_specified (87 variants)

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. These statistics are base on transcript: NM_000014597.5. 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			82	5		87
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	82	5	0

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