PARP16

poly(ADP-ribose) polymerase family member 16, the group of Poly(ADP-ribose) polymerases|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 15:65234460-65300618

Previous symbols: [ "C15orf30" ]

Links

ENSG00000138617 ∙ NCBI:54956 ∙ ∙ HGNC:26040 ∙ Uniprot:Q8N5Y8 ∙ 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 PARP16 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP16 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					1	1
missense			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	0	1

Variants in PARP16

This is a list of pathogenic ClinVar variants found in the PARP16 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-65259416-C-T			Benign (Apr 06, 2018)
15-65259459-C-T		not specified	Uncertain significance (Oct 10, 2023)
15-65260892-G-C		not specified	Uncertain significance (Dec 10, 2024)
15-65260904-A-C		not specified	Uncertain significance (Sep 26, 2024)
15-65260907-A-T		not specified	Uncertain significance (Nov 15, 2024)
15-65260969-A-T		not specified	Uncertain significance (Mar 08, 2025)
15-65260975-C-T		not specified	Uncertain significance (Apr 20, 2023)
15-65261002-C-T		not specified	Uncertain significance (Jan 19, 2025)
15-65263170-T-G		not specified	Uncertain significance (Aug 05, 2024)
15-65263178-G-A		not specified	Uncertain significance (May 24, 2023)
15-65263188-T-C		not specified	Uncertain significance (Jul 20, 2021)
15-65263194-C-T		not specified	Uncertain significance (Apr 01, 2024)
15-65263200-C-T		not specified	Uncertain significance (Feb 08, 2023)
15-65263224-C-T		not specified	Uncertain significance (Dec 02, 2022)
15-65263248-G-A		not specified	Uncertain significance (Nov 19, 2022)
15-65263269-G-C		not specified	Uncertain significance (Jul 13, 2021)
15-65263299-T-C		not specified	Uncertain significance (Dec 02, 2022)
15-65263316-G-A		not specified	Uncertain significance (Oct 12, 2022)
15-65266577-G-C		not specified	Uncertain significance (Dec 03, 2021)
15-65266587-T-C		not specified	Uncertain significance (Sep 14, 2021)
15-65266647-C-T		not specified	Uncertain significance (Mar 07, 2025)
15-65266668-A-G		not specified	Uncertain significance (Nov 07, 2022)
15-65266681-C-G		not specified	Uncertain significance (Sep 26, 2024)
15-65270957-A-G		not specified	Uncertain significance (Apr 12, 2023)
15-65271039-C-G		not specified	Uncertain significance (Jul 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP16	protein_coding	protein_coding	ENST00000261888	6	66159

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.99e-10	0.0868	125703	0	45	125748	0.000179

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.367	167	181	0.923	0.00000961	2101
Missense in Polyphen		54	56.39	0.95762		628
Synonymous	0.0142	77	77.2	0.998	0.00000435	635
Loss of Function	0.139	15	15.6	0.962	9.44e-7	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000496	0.000496
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.00	0.00
South Asian	0.000229	0.000229
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Intracellular mono-ADP-ribosyltransferase that may play a role in different processes through the mono-ADP-ribosylation of proteins involved in those processes (PubMed:23103912, PubMed:22701565). May play a role in the unfolded protein response (UPR), by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors (PubMed:23103912). May also mediate mono- ADP-ribosylation of karyopherin KPNB1 a nuclear import factor (PubMed:22701565). May not modify proteins on arginine, cysteine or glutamate residues compared to other mono-ADP- ribosyltransferases (PubMed:22701565). {ECO:0000269|PubMed:22701565, ECO:0000269|PubMed:23103912}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.830
• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.91

Haploinsufficiency Scores

• pHI: 0.234
• hipred: N
• hipred_score: 0.350
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.652

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp16

Gene ontology

• Biological process: protein ADP-ribosylation;endoplasmic reticulum unfolded protein response;NAD biosynthesis via nicotinamide riboside salvage pathway;IRE1-mediated unfolded protein response;negative regulation of cell death;protein auto-ADP-ribosylation;positive regulation of protein serine/threonine kinase activity;cellular response to leukemia inhibitory factor
• Cellular component: nuclear envelope;endoplasmic reticulum;endoplasmic reticulum membrane;cytosol;membrane;integral component of membrane;endoplasmic reticulum tubular network
• Molecular function: NAD+ ADP-ribosyltransferase activity;protein binding;kinase binding;protein serine/threonine kinase activator activity