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.

not_specified (45 variants)
not_provided (3 variants)

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. These statistics are base on transcript: NM_001316943.2. 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 clinvar	2
missense			45 clinvar			45
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	1	1

Loading clinvar variants...

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
Phenotype

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