PARP15

poly(ADP-ribose) polymerase family member 15, the group of Macro domain containing|Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 3:122577627-122639047

Links

ENSG00000173200 ∙ NCBI:165631 ∙ OMIM:612066 ∙ HGNC:26876 ∙ Uniprot:Q460N3 ∙ 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 PARP15 gene.

• Inborn genetic diseases (26 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP15 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			23	3	2	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	3	2

Variants in PARP15

This is a list of pathogenic ClinVar variants found in the PARP15 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-122577708-C-G		not specified	Uncertain significance (Feb 22, 2023)
3-122577726-G-C		not specified	Uncertain significance (Aug 17, 2022)
3-122577764-G-A		not specified	Uncertain significance (Sep 17, 2021)
3-122577768-G-C		not specified	Uncertain significance (Aug 17, 2022)
3-122577773-G-C		not specified	Uncertain significance (Dec 03, 2021)
3-122577825-C-T		not specified	Uncertain significance (Sep 01, 2021)
3-122606030-T-C		not specified	Uncertain significance (Nov 30, 2021)
3-122610540-G-A		not specified	Uncertain significance (Jun 18, 2021)
3-122610555-G-A		not specified	Likely benign (Dec 06, 2021)
3-122610578-C-T		not specified	Uncertain significance (Dec 15, 2022)
3-122610587-C-G		not specified	Uncertain significance (Jul 20, 2021)
3-122610643-C-A		not specified	Likely benign (Feb 26, 2024)
3-122610689-G-A		not specified	Uncertain significance (Jan 09, 2024)
3-122610693-C-G		not specified	Uncertain significance (Mar 28, 2023)
3-122613056-A-G		not specified	Likely benign (Jun 22, 2023)
3-122613101-A-G		not specified	Uncertain significance (Feb 05, 2024)
3-122613219-T-C			Benign (Apr 19, 2018)
3-122613248-A-C		not specified	Uncertain significance (Dec 20, 2023)
3-122615818-C-T		not specified	Uncertain significance (May 24, 2023)
3-122615836-C-A		not specified	Uncertain significance (Nov 21, 2022)
3-122617035-A-C		not specified	Uncertain significance (Jan 26, 2023)
3-122617102-T-C		not specified	Uncertain significance (Jan 16, 2024)
3-122617156-G-A		not specified	Uncertain significance (Dec 13, 2021)
3-122619832-G-A		not specified	Uncertain significance (Dec 09, 2023)
3-122621463-T-G		not specified	Uncertain significance (Oct 26, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP15	protein_coding	protein_coding	ENST00000464300	12	61446

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.74e-9	0.879	125561	1	178	125740	0.000712

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.631	325	359	0.906	0.0000175	4417
Missense in Polyphen		69	80.073	0.86171		1020
Synonymous	0.925	119	133	0.898	0.00000699	1338
Loss of Function	1.72	17	26.5	0.640	0.00000122	338

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000681	0.000681
Ashkenazi Jewish	0.00	0.00
East Asian	0.00741	0.00737
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000133	0.000114
Middle Eastern	0.00741	0.00737
South Asian	0.000141	0.000131
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possesses ADP-ribosyltransferase activity (PubMed:16061477, PubMed:25635049). Transcriptional repressor (PubMed:16061477). {ECO:0000269|PubMed:16061477, ECO:0000269|PubMed:25635049}.

Recessive Scores

• pRec: 0.0791

Intolerance Scores

• loftool: 0.987
• rvis_EVS: 2.62
• rvis_percentile_EVS: 98.79

Haploinsufficiency Scores

• pHI: 0.0452
• hipred: N
• hipred_score: 0.112
• ghis: 0.409

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.188

Gene Damage Prediction

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;protein poly-ADP-ribosylation
• Cellular component: nucleus
• Molecular function: transcription corepressor activity;NAD+ ADP-ribosyltransferase activity;protein binding;NAD+ binding