TENT5B

terminal nucleotidyltransferase 5B, the group of Terminal nucleotidyltransferases

Basic information

Region (hg38): 1:27005020-27012850

Previous symbols: [ "FAM46B" ]

Links

ENSG00000158246 ∙ NCBI:115572 ∙ OMIM:619069 ∙ HGNC:28273 ∙ Uniprot:Q96A09 ∙ 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 TENT5B gene.

• not_specified (78 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TENT5B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052943.4. 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				1		1
missense			75	3		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	75	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TENT5B	protein_coding	protein_coding	ENST00000289166	2	7817

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.183	0.807	125717	0	24	125741	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.575	254	281	0.904	0.0000194	2682
Missense in Polyphen		100	127.57	0.78391		1306
Synonymous	0.182	125	128	0.980	0.00000846	979
Loss of Function	2.20	3	10.8	0.278	5.50e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000879	0.0000879
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000568	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000155	0.000149
Middle Eastern	0.0000568	0.0000544
South Asian	0.0000653	0.0000653
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable nucleotidyltransferase that may act as a non- canonical poly(A) RNA polymerase. {ECO:0000305|PubMed:27060136}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.43

Haploinsufficiency Scores

• pHI: 0.618
• hipred: Y
• hipred_score: 0.546
• ghis: 0.558

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tent5b

Gene ontology

• Molecular function: protein binding;RNA adenylyltransferase activity