PAPOLB

poly(A) polymerase beta

Basic information

Region (hg38): 7:4857738-4862030

Links

ENSG00000218823 ∙ NCBI:56903 ∙ OMIM:607436 ∙ HGNC:15970 ∙ Uniprot:Q9NRJ5 ∙ 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 PAPOLB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PAPOLB 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				1		1
missense			57	1		58
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	57	2	0

Variants in PAPOLB

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

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

Position	Type	Phenotype	Significance	ClinVar
7-4859954-A-C		not specified	Uncertain significance (Oct 04, 2024)
7-4859959-T-C		not specified	Uncertain significance (Mar 07, 2023)
7-4859964-G-T		not specified	Uncertain significance (Dec 06, 2022)
7-4859968-C-T		not specified	Uncertain significance (Oct 30, 2024)
7-4859986-C-T		not specified	Uncertain significance (Jan 17, 2025)
7-4860012-T-A		not specified	Uncertain significance (Feb 21, 2025)
7-4860037-C-T		not specified	Uncertain significance (Dec 11, 2023)
7-4860041-T-G		not specified	Uncertain significance (Nov 24, 2021)
7-4860096-G-A		not specified	Likely benign (Sep 16, 2021)
7-4860114-G-A		not specified	Uncertain significance (Dec 07, 2024)
7-4860131-C-A		not specified	Uncertain significance (Sep 27, 2024)
7-4860148-T-C		not specified	Uncertain significance (Jan 03, 2024)
7-4860193-T-C		not specified	Uncertain significance (Jan 09, 2025)
7-4860214-T-G		not specified	Uncertain significance (Feb 27, 2023)
7-4860249-T-C		not specified	Uncertain significance (Mar 17, 2023)
7-4860271-T-C		not specified	Uncertain significance (Jul 09, 2024)
7-4860316-G-A		not specified	Uncertain significance (Mar 08, 2025)
7-4860350-C-T		not specified	Uncertain significance (Jan 21, 2025)
7-4860352-T-C		not specified	Uncertain significance (Dec 27, 2022)
7-4860363-T-A		not specified	Uncertain significance (Feb 26, 2025)
7-4860427-G-T		not specified	Uncertain significance (Sep 16, 2021)
7-4860501-A-G		not specified	Uncertain significance (Oct 16, 2024)
7-4860502-T-A		not specified	Uncertain significance (Mar 24, 2023)
7-4860519-A-G		not specified	Uncertain significance (Mar 21, 2023)
7-4860529-T-C		not specified	Uncertain significance (Oct 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PAPOLB	protein_coding	protein_coding	ENST00000404991	1	4262

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00231	0.982	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.149	344	336	1.02	0.0000175	4165
Missense in Polyphen		117	139.88	0.83643		1859
Synonymous	-3.13	178	132	1.35	0.00000771	1255
Loss of Function	2.12	7	16.2	0.431	8.49e-7	219

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Pathway: mRNA surveillance pathway - Homo sapiens (human);Purine metabolism (Consensus)

Haploinsufficiency Scores

• pHI: 0.408
• hipred: N
• hipred_score: 0.281
• ghis: 0.394

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0680

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Papolb
• Phenotype: cellular phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: mRNA polyadenylation
• Cellular component: nucleus;cytoplasm
• Molecular function: RNA binding;polynucleotide adenylyltransferase activity;ATP binding;metal ion binding