PARP4

poly(ADP-ribose) polymerase family member 4, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 13:24420931-24512778

Previous symbols: [ "ADPRTL1" ]

Links

ENSG00000102699 ∙ NCBI:143 ∙ OMIM:607519 ∙ HGNC:271 ∙ Uniprot:Q9UKK3 ∙ 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 PARP4 gene.

• not_specified (200 variants)
• not_provided (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006437.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				6	2	8
missense			194	12	3	209
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	194	18	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP4	protein_coding	protein_coding	ENST00000381989	33	91885

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.82e-27	0.933	125394	1	353	125748	0.00141

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.127	878	889	0.988	0.0000461	11318
Missense in Polyphen		170	218.59	0.7777		2928
Synonymous	-0.848	356	336	1.06	0.0000193	3258
Loss of Function	2.78	55	82.2	0.669	0.00000413	1016

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00368	0.00367
Ashkenazi Jewish	0.000137	0.0000992
East Asian	0.00247	0.00239
Finnish	0.000323	0.000323
European (Non-Finnish)	0.00116	0.00111
Middle Eastern	0.00247	0.00239
South Asian	0.00406	0.00334
Other	0.000927	0.000815

dbNSFP

Source: dbNSFP

• Pathway: Base excision repair - Homo sapiens (human);Necroptosis - Homo sapiens (human);Apoptosis - Homo sapiens (human);NAD+ biosynthetic pathways (Consensus)

Intolerance Scores

• loftool: 0.988
• rvis_EVS: 4.63
• rvis_percentile_EVS: 99.76

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.232
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.400

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp4
• Phenotype: normal phenotype

Gene ontology

• Biological process: DNA repair;cellular protein modification process;protein ADP-ribosylation;inflammatory response;cellular response to DNA damage stimulus;cell death;response to drug;regulation of telomerase activity
• Cellular component: nucleus;cytoplasm;cytosol;spindle microtubule;membrane;extracellular exosome;ribonucleoprotein complex
• Molecular function: DNA binding;NAD+ ADP-ribosyltransferase activity;protein binding;enzyme binding