PARP8

poly(ADP-ribose) polymerase family member 8, the group of Poly(ADP-ribose) polymerases

Basic information

Region (hg38): 5:50665899-50846519

Links

ENSG00000151883NCBI:79668HGNC:26124Uniprot:Q8N3A8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PARP8 gene.

  • not_specified (72 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PARP8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024615.4. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
71
clinvar
1
clinvar
72
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 71 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PARP8protein_codingprotein_codingENST00000281631 26180624
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.05960.9401257280201257480.0000795
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.003294480.7340.00002245569
Missense in Polyphen55127.910.429981644
Synonymous-0.8531781641.080.000008461601
Loss of Function5.191455.90.2500.00000305659

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003940.000393
Ashkenazi Jewish0.0001040.0000992
East Asian0.00005440.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00005380.0000527
Middle Eastern0.00005440.0000544
South Asian0.00006540.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Mesodermal Commitment Pathway (Consensus)

Intolerance Scores

loftool
0.0274
rvis_EVS
-0.91
rvis_percentile_EVS
9.96

Haploinsufficiency Scores

pHI
0.354
hipred
Y
hipred_score
0.575
ghis
0.591

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.251

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Parp8
Phenotype
vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
protein ADP-ribosylation
Cellular component
Molecular function
NAD+ ADP-ribosyltransferase activity