PARP14

poly(ADP-ribose) polymerase family member 14, the group of Macro domain containing|Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 3:122680838-122730840

Links

ENSG00000173193 ∙ NCBI:54625 ∙ OMIM:610028 ∙ HGNC:29232 ∙ Uniprot:Q460N5 ∙ 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 PARP14 gene.

• Inborn genetic diseases (55 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP14 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			52	3	3	58
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	52	3	4

Variants in PARP14

This is a list of pathogenic ClinVar variants found in the PARP14 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-122680954-A-T		not specified	Uncertain significance (Dec 21, 2022)
3-122680993-C-T		not specified	Uncertain significance (Apr 08, 2022)
3-122685187-C-T		not specified	Uncertain significance (Mar 07, 2023)
3-122685238-G-A		not specified	Uncertain significance (Jun 13, 2022)
3-122685256-G-A		not specified	Uncertain significance (Dec 27, 2023)
3-122685286-G-A		not specified	Uncertain significance (Oct 04, 2022)
3-122685296-T-C		not specified	Likely benign (Jan 22, 2024)
3-122685300-A-C		not specified	Uncertain significance (Jan 23, 2023)
3-122692331-C-G		not specified	Uncertain significance (Jan 03, 2024)
3-122692333-C-T		not specified	Uncertain significance (Oct 13, 2023)
3-122692370-A-G		not specified	Uncertain significance (Feb 28, 2023)
3-122692438-C-G		not specified	Uncertain significance (Dec 16, 2023)
3-122695633-C-T		not specified	Uncertain significance (May 27, 2022)
3-122699506-C-G		not specified	Uncertain significance (Jan 29, 2024)
3-122699590-G-A		not specified	Uncertain significance (Sep 15, 2021)
3-122699621-C-T		not specified	Uncertain significance (Aug 14, 2023)
3-122699675-A-G		not specified	Uncertain significance (Apr 05, 2023)
3-122699707-G-T		not specified	Uncertain significance (Feb 28, 2023)
3-122699779-A-G		not specified	Likely benign (Jun 27, 2022)
3-122699802-T-G		not specified	Uncertain significance (Apr 28, 2022)
3-122699848-A-G		not specified	Uncertain significance (May 27, 2022)
3-122699935-A-G		not specified	Uncertain significance (Feb 28, 2023)
3-122700009-T-A		Abnormality of neuronal migration	Benign (Oct 31, 2014)
3-122700016-G-A			Benign (Jun 18, 2018)
3-122700029-C-T		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP14	protein_coding	protein_coding	ENST00000474629	17	50223

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00674	0.993	124623	0	28	124651	0.000112

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.63	698	922	0.757	0.0000466	11864
Missense in Polyphen		133	251.5	0.52882		3374
Synonymous	0.663	339	355	0.955	0.0000189	3389
Loss of Function	5.59	18	67.6	0.266	0.00000325	949

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000284	0.000276
Ashkenazi Jewish	0.000105	0.0000994
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.000144	0.000142
Middle Eastern	0.000111	0.000111
South Asian	0.0000691	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ADP-ribosyltransferase (PubMed:16061477, PubMed:27796300). By mono-ADP-ribosylating STAT1 at 'Glu-657' and 'Glu-705' and thus decreasing STAT1 phosphorylation, negatively regulates pro-inflammatory cytokines production in macrophages in response to IFNG stimulation (PubMed:27796300). Mono-ADP- ribosylates STAT6 (By similarity). Enhances STAT6-dependent transcription (By similarity). In macrophages, positively regulates MRC1 expression in response to IL4 stimulation by promoting STAT6 phosphorylation (PubMed:27796300). Mono-ADP- ribosylates PARP9 (PubMed:27796300). {ECO:0000250|UniProtKB:Q2EMV9, ECO:0000269|PubMed:16061477, ECO:0000269|PubMed:27796300}.
• Pathway: IL4-mediated signaling events (Consensus)

Recessive Scores

• pRec: 0.0851

Intolerance Scores

• loftool: 0.658
• rvis_EVS: -0.55
• rvis_percentile_EVS: 20.02

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.259
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.590

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp14
• Phenotype: immune system phenotype; cellular phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: protein ADP-ribosylation;negative regulation of gene expression;positive regulation of tyrosine phosphorylation of STAT protein;negative regulation of tyrosine phosphorylation of STAT protein;innate immune response;negative regulation of interferon-gamma-mediated signaling pathway;positive regulation of interleukin-4-mediated signaling pathway
• Cellular component: nucleus;cytoplasm;cytosol;membrane
• Molecular function: NAD+ ADP-ribosyltransferase activity;protein binding;enzyme binding