PAPOLG

poly(A) polymerase gamma

Basic information

Region (hg38): 2:60756253-60802086

Links

ENSG00000115421NCBI:64895OMIM:616865HGNC:14982Uniprot:Q9BWT3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAPOLG 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
23
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
2
splice region
1
1
non coding
0
Total 0 0 23 1 1

Variants in PAPOLG

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

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

Position Type Phenotype Significance ClinVar
2-60761755-G-A not specified Uncertain significance (Apr 14, 2022)3208448
2-60768829-C-G not specified Uncertain significance (Mar 30, 2024)3304243
2-60768883-A-G not specified Uncertain significance (Jan 30, 2024)3208451
2-60771544-C-G not specified Uncertain significance (Sep 23, 2023)3208452
2-60771630-G-A Uncertain significance (Jun 29, 2023)2920963
2-60780778-G-A not specified Uncertain significance (Nov 30, 2022)2329639
2-60781918-A-G not specified Uncertain significance (Sep 20, 2023)3208453
2-60782678-TAA-T Benign (Nov 14, 2017)781680
2-60782680-A-ATTTTTTTTTTTTTT Benign (Nov 14, 2017)791522
2-60782680-A-ATTTTTTTTTTTTTTTTTTTTTTT Likely benign (Aug 18, 2017)710413
2-60782734-A-G not specified Uncertain significance (Jan 08, 2024)3208442
2-60787057-A-G not specified Uncertain significance (Nov 23, 2021)2254524
2-60787527-A-G not specified Uncertain significance (Oct 27, 2021)2343337
2-60791823-G-A not specified Uncertain significance (Aug 19, 2023)2619469
2-60791830-A-C not specified Uncertain significance (May 13, 2024)3304244
2-60791879-A-T not specified Uncertain significance (Mar 15, 2024)3304241
2-60792162-G-A not specified Uncertain significance (Feb 02, 2022)2275220
2-60792247-C-T not specified Uncertain significance (Oct 16, 2023)3208443
2-60792277-G-T not specified Uncertain significance (Nov 03, 2023)3208444
2-60793628-A-G not specified Uncertain significance (Jan 30, 2024)3208445
2-60793973-G-A not specified Uncertain significance (Mar 19, 2024)3304242
2-60793992-C-T not specified Uncertain significance (Mar 01, 2023)2463739
2-60794000-C-T not specified Uncertain significance (Nov 14, 2023)3208447
2-60794030-G-C not specified Uncertain significance (Dec 14, 2021)2267237
2-60794054-A-G not specified Uncertain significance (Jun 16, 2023)2604248

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PAPOLGprotein_codingprotein_codingENST00000238714 2245856
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9980.002101257260181257440.0000716
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.202713940.6880.00002054793
Missense in Polyphen28101.070.277031302
Synonymous0.9931201350.8910.000006851420
Loss of Function5.35644.50.1350.00000239527

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001880.000185
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00008950.0000879
Middle Eastern0.00005440.0000544
South Asian0.00009830.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA. {ECO:0000269|PubMed:11287430, ECO:0000269|PubMed:11463842}.;
Pathway
mRNA surveillance pathway - Homo sapiens (human);Purine metabolism (Consensus)

Recessive Scores

pRec
0.105

Intolerance Scores

loftool
0.135
rvis_EVS
-0.87
rvis_percentile_EVS
10.73

Haploinsufficiency Scores

pHI
0.432
hipred
Y
hipred_score
0.527
ghis
0.652

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
N
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.695

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Papolg
Phenotype

Gene ontology

Biological process
mRNA polyadenylation;RNA polyadenylation
Cellular component
nucleus;nucleoplasm;cytosol;membrane;nuclear body
Molecular function
RNA binding;polynucleotide adenylyltransferase activity;ATP binding;metal ion binding