TENT4A

terminal nucleotidyltransferase 4A, the group of Terminal nucleotidyltransferases|Non-canonical poly(A) polymerases

Basic information

Region (hg38): 5:6713432-6757044

Previous symbols: [ "POLS", "PAPD7" ]

Links

ENSG00000112941 ∙ NCBI:11044 ∙ OMIM:605198 ∙ HGNC:16705 ∙ Uniprot:Q5XG87 ∙ 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 TENT4A gene.

• not_specified (72 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TENT4A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006999.6. 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				2		2
missense			68	2		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TENT4A	protein_coding	protein_coding	ENST00000230859	12	42444

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000656	125734	0	13	125747	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.31	216	335	0.645	0.0000200	3525
Missense in Polyphen		35	121.76	0.28745		1306
Synonymous	-0.0157	141	141	1.00	0.00000989	1095
Loss of Function	4.50	1	25.6	0.0391	0.00000124	308

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000881	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000329	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post- transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Has no terminal uridylyltransferase activity, and does not play a role in replication-dependent histone mRNA degradation via uridylation. {ECO:0000269|PubMed:23376078}.

Recessive Scores

• pRec: 0.167

Intolerance Scores

• rvis_EVS: -1
• rvis_percentile_EVS: 8.37

Haploinsufficiency Scores

• pHI: 0.587
• hipred: Y
• hipred_score: 0.688
• ghis: 0.629

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tent4a

Gene ontology

• Biological process: double-strand break repair;mRNA processing;sister chromatid cohesion;mitotic chromosome condensation;response to drug;histone mRNA catabolic process;snoRNA polyadenylation
• Cellular component: nucleus;nucleoplasm;nucleolus;Golgi apparatus;TRAMP complex;nuclear membrane
• Molecular function: polynucleotide adenylyltransferase activity;ATP binding;SMC family protein binding;metal ion binding