TIPARP

TCDD inducible poly(ADP-ribose) polymerase, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 3:156673235-156706770

Links

ENSG00000163659

∙ NCBI:25976 ∙ OMIM:612480 ∙ HGNC:23696 ∙ Uniprot:Q7Z3E1 ∙ 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 TIPARP gene.

not_specified (61 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIPARP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015508.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			59 clinvar	2 clinvar		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	59	2	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIPARP	protein_coding	protein_coding	ENST00000461166	5	33536

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000902	125735	0	4	125739	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	254	344	0.737	0.0000166	4410
Missense in Polyphen		20	81.033	0.24681		1119
Synonymous	-1.07	137	122	1.12	0.00000609	1202
Loss of Function	4.77	0	26.5	0.00	0.00000152	309

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Poly [ADP-ribose] polymerase using NAD(+) as a substrate to transfer ADP-ribose onto glutamic acid residues of a protein acceptor; repeated rounds of ADP-ribosylation leads to the formation of poly(ADPribose) chains on the protein, thereby altering the function of the target protein. May play a role in the adaptive response to chemical exposure (TCDD) and thereby mediates certain effects of the chemicals (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.124

Intolerance Scores

loftool: 0.350
rvis_EVS: -0.67
rvis_percentile_EVS: 15.76

Haploinsufficiency Scores

pHI: 0.438
hipred: Y
hipred_score: 0.595
ghis: 0.541

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.447

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Tiparp
Phenotype: digestive/alimentary phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive 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); hematopoietic system phenotype; endocrine/exocrine gland phenotype; muscle phenotype; craniofacial phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process: vasculogenesis;kidney development;protein ADP-ribosylation;androgen metabolic process;estrogen metabolic process;female gonad development;post-embryonic development;negative regulation of gene expression;hemopoiesis;positive regulation of protein catabolic process;platelet-derived growth factor receptor signaling pathway;skeletal system morphogenesis;smooth muscle tissue development;roof of mouth development;face morphogenesis;cellular response to organic cyclic compound;response to 2,3,7,8-tetrachlorodibenzodioxine
Cellular component: nucleus
Molecular function: NAD+ ADP-ribosyltransferase activity;enhancer binding;metal ion binding