TRHDE

thyrotropin releasing hormone degrading enzyme, the group of M1 metallopeptidases

Basic information

Region (hg38): 12:72087265-72670758

Links

ENSG00000072657 ∙ NCBI:29953 ∙ OMIM:606950 ∙ HGNC:30748 ∙ Uniprot:Q9UKU6 ∙ 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 TRHDE gene.

• Inborn genetic diseases (20 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRHDE 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				1	2	3
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	20	1	2

Variants in TRHDE

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

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

Position	Type	Phenotype	Significance	ClinVar
12-72272831-C-T		not specified	Uncertain significance (Aug 08, 2022)
12-72272969-G-T		not specified	Uncertain significance (Sep 26, 2023)
12-72272984-G-A		not specified	Uncertain significance (Feb 22, 2023)
12-72272990-G-T		not specified	Uncertain significance (Oct 12, 2022)
12-72273131-G-A		not specified	Uncertain significance (Dec 30, 2023)
12-72273137-C-A		not specified	Uncertain significance (Oct 28, 2023)
12-72273251-T-C		not specified	Uncertain significance (Dec 05, 2022)
12-72273276-G-A			Benign (Nov 15, 2018)
12-72273328-G-A		not specified	Uncertain significance (Jan 11, 2023)
12-72273335-G-T		not specified	Uncertain significance (Oct 06, 2022)
12-72273461-A-G		not specified	Uncertain significance (Nov 21, 2023)
12-72273506-A-C		not specified	Uncertain significance (Aug 12, 2021)
12-72273546-C-G		not specified	Uncertain significance (Feb 22, 2023)
12-72273547-G-C		not specified	Uncertain significance (Feb 14, 2024)
12-72273547-G-T		not specified	Uncertain significance (Nov 09, 2022)
12-72286880-A-C		not specified	Uncertain significance (Oct 27, 2022)
12-72286951-T-G			Likely benign (Mar 01, 2023)
12-72378094-A-G		not specified	Uncertain significance (Apr 12, 2023)
12-72473091-G-A		not specified	Uncertain significance (Jan 02, 2024)
12-72473127-G-T		not specified	Uncertain significance (Mar 31, 2022)
12-72473158-A-G		not specified	Uncertain significance (Dec 18, 2023)
12-72473179-T-C		not specified	Uncertain significance (Dec 03, 2021)
12-72563025-A-G		not specified	Uncertain significance (Aug 06, 2021)
12-72575269-A-G		not specified	Uncertain significance (May 24, 2023)
12-72575305-A-T		Long QT syndrome	Likely benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRHDE	protein_coding	protein_coding	ENST00000261180	19	578377

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000102	1.00	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.79	360	543	0.663	0.0000257	6642
Missense in Polyphen		98	185.91	0.52714		2321
Synonymous	1.35	193	218	0.884	0.0000112	1983
Loss of Function	4.19	20	52.9	0.378	0.00000275	615

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000212	0.000212
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000338	0.000272
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000127	0.000123
Middle Eastern	0.000338	0.000272
South Asian	0.000103	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Specific inactivation of TRH after its release.

Recessive Scores

• pRec: 0.178

Intolerance Scores

• loftool: 0.565
• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.61

Haploinsufficiency Scores

• pHI: 0.531
• hipred: Y
• hipred_score: 0.711
• ghis: 0.443

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trhde

Gene ontology

• Biological process: proteolysis;signal transduction;cell-cell signaling;peptide catabolic process
• Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane;extracellular exosome
• Molecular function: aminopeptidase activity;zinc ion binding;peptide binding;metalloaminopeptidase activity