TDRP

testis development related protein

Basic information

Region (hg38): 8:489803-545781

Previous symbols: [ "C8orf42" ]

Links

ENSG00000180190 ∙ NCBI:157695 ∙ OMIM:619049 ∙ HGNC:26951 ∙ Uniprot:Q86YL5 ∙ 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 TDRP gene.

• not_specified (47 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TDRP gene is commonly pathogenic or not. These statistics are base on transcript: NM_001384899.1. 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			45	2		47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	45	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TDRP	protein_coding	protein_coding	ENST00000523656	4	55979

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-9	0.0322	124619	0	20	124639	0.0000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.87	131	83.0	1.58	0.00000423	1249
Missense in Polyphen		38	27.898	1.3621		410
Synonymous	-3.15	57	33.7	1.69	0.00000196	374
Loss of Function	-0.807	12	9.34	1.28	5.78e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000162	0.000159
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000466	0.0000464
European (Non-Finnish)	0.000136	0.000133
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Contributes to normal sperm motility, but not essential for male fertility. {ECO:0000250|UniProtKB:Q8C5P7}.

Recessive Scores

• pRec: 0.103

Intolerance Scores

• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

• pHI: 0.378
• hipred: N
• hipred_score: 0.190
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tdrp
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: spermatogenesis
• Cellular component: nucleus;cytoplasm;cytosol;intracellular membrane-bounded organelle
• Molecular function: molecular_function