PAPOLG

poly(A) polymerase gamma

Basic information

Region (hg38): 2:60756253-60802086

Links

ENSG00000115421 ∙ NCBI:64895 ∙ OMIM:616865 ∙ HGNC:14982 ∙ Uniprot:Q9BWT3 ∙ 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 PAPOLG gene.

• not_specified (66 variants)
• not_provided (4 variants)

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. These statistics are base on transcript: NM_000022894.4. 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						0
missense			65	2		67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1	1	2
Total	0	0	65	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAPOLG	protein_coding	protein_coding	ENST00000238714	22	45856

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00210	125726	0	18	125744	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.20	271	394	0.688	0.0000205	4793
Missense in Polyphen		28	101.07	0.27703		1302
Synonymous	0.993	120	135	0.891	0.00000685	1420
Loss of Function	5.35	6	44.5	0.135	0.00000239	527

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000895	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000983	0.0000980
Other	0.00	0.00

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

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

Mouse Genome Informatics

• Gene name: Papolg

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