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.

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.

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						0
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in TDRP

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

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

Position	Type	Phenotype	Significance	ClinVar
8-492414-C-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
8-492415-G-A		not specified	Uncertain significance (Jun 22, 2021)
8-492431-G-A		not specified	Uncertain significance (Oct 13, 2023)
8-492532-C-G		not specified	Uncertain significance (Aug 14, 2023)
8-492538-G-A		not specified	Uncertain significance (Feb 06, 2023)
8-492541-T-A		not specified	Uncertain significance (Jul 25, 2023)
8-492558-C-A		not specified	Uncertain significance (Nov 24, 2024)
8-492559-C-A		not specified	Uncertain significance (Aug 03, 2022)
8-492562-G-C		not specified	Uncertain significance (May 17, 2023)
8-492578-C-T		not specified	Likely benign (Oct 20, 2021)
8-492586-T-C		not specified	Likely benign (Nov 11, 2024)
8-492598-G-A		not specified	Uncertain significance (Aug 02, 2021)
8-492604-T-C		not specified	Uncertain significance (Jan 08, 2024)
8-492691-C-A		not specified	Uncertain significance (Oct 06, 2021)
8-492725-C-G		not specified	Uncertain significance (Jun 16, 2024)
8-492743-T-C		not specified	Uncertain significance (Aug 02, 2021)
8-494503-T-C		not specified	Uncertain significance (Jan 16, 2024)
8-494503-T-G		not specified	Uncertain significance (Feb 06, 2023)
8-494507-G-T		not specified	Uncertain significance (May 05, 2022)
8-494530-T-C		not specified	Uncertain significance (Dec 06, 2022)
8-494560-G-A		not specified	Uncertain significance (Oct 19, 2024)
8-494576-C-T		not specified	Uncertain significance (May 08, 2024)
8-494582-A-C		not specified	Uncertain significance (Apr 22, 2022)
8-544679-G-A		not specified	Uncertain significance (Jun 06, 2023)
8-544688-C-T		not specified	Uncertain significance (Mar 15, 2024)

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