PARP12

poly(ADP-ribose) polymerase family member 12, the group of Zinc fingers CCCH-type|Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 7:140023749-140062951

Previous symbols: [ "ZC3HDC1" ]

Links

ENSG00000059378 ∙ NCBI:64761 ∙ OMIM:612481 ∙ HGNC:21919 ∙ Uniprot:Q9H0J9 ∙ 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 PARP12 gene.

• not_specified (93 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022750.4. 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				1	2	3
missense			88	4	1	93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	88	5	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP12	protein_coding	protein_coding	ENST00000263549	12	39978

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.25e-8	0.996	125689	0	59	125748	0.000235

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.956	321	373	0.861	0.0000210	4556
Missense in Polyphen		93	139.55	0.66641		1561
Synonymous	-0.972	171	156	1.10	0.0000100	1332
Loss of Function	2.61	17	33.2	0.512	0.00000165	376

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000910	0.0000904
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.00	0.00
Finnish	0.000139	0.0000924
European (Non-Finnish)	0.000417	0.000413
Middle Eastern	0.00	0.00
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.670
• rvis_EVS: -0.66
• rvis_percentile_EVS: 16.02

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.283
• ghis: 0.481

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.861

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp12

Gene ontology

• Cellular component: nucleus
• Molecular function: RNA binding;NAD+ ADP-ribosyltransferase activity;metal ion binding