PARP11

poly(ADP-ribose) polymerase family member 11, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 12:3791047-3873448

Previous symbols: [ "C12orf6" ]

Links

ENSG00000111224 ∙ NCBI:57097 ∙ OMIM:616706 ∙ HGNC:1186 ∙ Uniprot:Q9NR21 ∙ 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 PARP11 gene.

• not_specified (31 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020367.6. 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						0
missense			30	1		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP11	protein_coding	protein_coding	ENST00000228820	8	82396

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.18e-9	0.427	125680	0	68	125748	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.698	158	185	0.856	0.00000929	2309
Missense in Polyphen		56	68.911	0.81264		830
Synonymous	0.0604	59	59.6	0.990	0.00000311	552
Loss of Function	0.931	15	19.4	0.772	0.00000106	218

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000372	0.000371
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000397	0.000396
Middle Eastern	0.000272	0.000272
South Asian	0.000233	0.000229
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in nuclear envelope stability and nuclear remodeling during spermiogenesis (By similarity). In vitro, exhibits mono(ADP-ribosyl) transferase activity (PubMed:25673562). {ECO:0000250|UniProtKB:Q8CFF0, ECO:0000269|PubMed:25673562}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.671
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• pHI: 0.569
• hipred: N
• hipred_score: 0.310
• ghis: 0.640

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp11
• Phenotype: cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: nuclear envelope organization;spermatogenesis;protein transport;cell differentiation;mRNA transport
• Cellular component: nuclear envelope;nuclear pore
• Molecular function: NAD+ ADP-ribosyltransferase activity