PARP6

poly(ADP-ribose) polymerase family member 6, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 15:72241181-72272999

Links

ENSG00000137817 ∙ NCBI:56965 ∙ OMIM:619439 ∙ HGNC:26921 ∙ Uniprot:Q2NL67 ∙ 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 PARP6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP6 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						0
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in PARP6

This is a list of pathogenic ClinVar variants found in the PARP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-72241475-T-A		not specified	Uncertain significance (May 30, 2024)
15-72241487-G-A		not specified	Uncertain significance (Aug 27, 2024)
15-72242175-A-G			Uncertain significance (Aug 12, 2021)
15-72242630-G-C		not specified	Uncertain significance (Feb 21, 2024)
15-72254472-T-C		Neurodevelopmental disorder	Uncertain significance (Sep 02, 2022)
15-72254511-A-C		not specified	Uncertain significance (Dec 02, 2024)
15-72257424-C-T		not specified	Uncertain significance (May 30, 2023)
15-72258102-T-C		not specified	Uncertain significance (Dec 05, 2022)
15-72259613-C-T		not specified	Uncertain significance (Nov 12, 2021)
15-72259660-A-G		not specified	Uncertain significance (Dec 16, 2022)
15-72260479-A-G		not specified	Uncertain significance (Jun 09, 2022)
15-72260491-C-T		not specified	Uncertain significance (Dec 09, 2023)
15-72260492-G-A		not specified	Uncertain significance (Sep 25, 2023)
15-72260545-C-T		not specified	Uncertain significance (Oct 17, 2023)
15-72261697-T-C		not specified	Uncertain significance (Dec 04, 2024)
15-72264613-T-C		not specified	Uncertain significance (Jun 30, 2022)
15-72265129-T-C		not specified	Uncertain significance (Jan 04, 2022)
15-72265140-C-T		not specified	Uncertain significance (Dec 08, 2023)
15-72265451-C-T		not specified	Uncertain significance (Apr 25, 2022)
15-72265901-T-C		not specified	Uncertain significance (May 27, 2022)
15-72265933-A-G		not specified	Uncertain significance (Jul 30, 2024)
15-72265934-C-T		not specified	Uncertain significance (Dec 28, 2022)
15-72266788-G-A		not specified	Uncertain significance (Mar 23, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PARP6	protein_coding	protein_coding	ENST00000569795	22	31819

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000425	124789	0	4	124793	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.18	187	356	0.526	0.0000190	4155
Missense in Polyphen		35	133.16	0.26285		1556
Synonymous	0.874	117	130	0.902	0.00000676	1185
Loss of Function	5.55	3	41.7	0.0719	0.00000209	477

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000646	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0783

Intolerance Scores

• loftool: 0.174
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

• pHI: 0.191
• hipred: Y
• hipred_score: 0.688
• ghis: 0.554

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00640

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Parp6

Gene ontology

• Biological process: protein ADP-ribosylation;positive regulation of dendrite morphogenesis
• Molecular function: NAD+ ADP-ribosyltransferase activity