TENT5D

protein-coding

terminal nucleotidyltransferase 5D, the group of Terminal nucleotidyltransferases

Gene summary

Antibodies against the protein encoded by this gene were found only in plasma from cancer patients. While it may be a target for immunotherapy, the function of this gene is unknown. [provided by RefSeq, Dec 2009]

Previous symbols:

FAM46D

MANE transcript

NM_152630.5

Inheritance

—

ClinVar variants

U:32B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:80,335,504-80,445,311

External References & Databases

Ensembl (ENSG00000174016)

Transcript & Mutation Effects

hg38 • Region Span ~109.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TENT5D variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 35

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152630.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			31 clinvar	5 clinvar		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	6	0	38

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152630.5	RefSeq	NP_689843.1	1	MANE Select
ENST00000308293.6	Ensembl	ENSP00000308575.5	1	MANE Select
NM_001170574.2	RefSeq	NP_001164045.1	1	Standard
ENST00000538312.5	Ensembl	ENSP00000443410.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
RNA adenylyltransferase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000538312
Coding exons: 1
Length: 109808
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.957	109	141	0.773	0.00000986	2606
Missense (PolyPhen)		18	60.893	0.2956		1179
Synonymous	-0.455	54	49.9	1.08	0.00000364	718
Loss of Function	2.24	0	5.85	0.00	3.64e-7	140

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Nucleotidyltransferase that act as a non-canonical poly(A) RNA polymerase. {ECO:0000269|PubMed:27060136, ECO:0000269|PubMed:28931820}.;

Recessive Scores

pRec: 0.0747

Intolerance Scores

RVIS EVS: -0.03
RVIS percentile EVS: 51.66

Essentials

Essential (gene trap): N