THRSP

thyroid hormone responsive

Basic information

Region (hg38): 11:78063860-78068351

Previous symbols: [ "LPGP1" ]

Links

ENSG00000151365 ∙ NCBI:7069 ∙ OMIM:601926 ∙ HGNC:11800 ∙ Uniprot:Q92748 ∙ 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 THRSP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THRSP 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			6		1	7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	1

Variants in THRSP

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

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

Position	Type	Phenotype	Significance	ClinVar
11-78063910-A-G		not specified	Uncertain significance (Apr 07, 2023)
11-78063937-G-A		not specified	Uncertain significance (Apr 15, 2024)
11-78063973-T-C		not specified	Uncertain significance (Jul 14, 2021)
11-78063993-C-T		not specified	Uncertain significance (Dec 20, 2022)
11-78063999-G-A		not specified	Uncertain significance (Jun 02, 2023)
11-78064110-C-T		not specified	Uncertain significance (Dec 16, 2022)
11-78064119-T-A		not specified	Uncertain significance (Mar 30, 2024)
11-78064163-G-C		not specified	Uncertain significance (Feb 27, 2024)
11-78064212-G-A		not specified	Uncertain significance (Mar 25, 2024)
11-78064306-C-T			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THRSP	protein_coding	protein_coding	ENST00000281030	1	4491

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00292	0.599	125731	0	14	125745	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.274	82	89.3	0.918	0.00000511	957
Missense in Polyphen		23	28.684	0.80184		350
Synonymous	1.53	27	39.2	0.689	0.00000247	288
Loss of Function	0.399	4	4.96	0.807	2.12e-7	54

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000717	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of lipogenesis, especially in lactating mammary gland. Important for the biosynthesis of triglycerides with medium-length fatty acid chains. May modulate lipogenesis by interacting with MID1IP1 and preventing its interaction with ACACA (By similarity). May function as transcriptional coactivator. May modulate the transcription factor activity of THRB. {ECO:0000250, ECO:0000269|PubMed:17418816, ECO:0000269|PubMed:18299245}.
• Pathway: Metabolism of lipids;Import of palmitoyl-CoA into the mitochondrial matrix;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.306
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.32

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.170
• ghis: 0.395

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Thrsp
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: lipid metabolic process;carnitine shuttle;response to bacterium;regulation of triglyceride biosynthetic process;regulation of lipid biosynthetic process
• Cellular component: nucleoplasm;cytosol
• Molecular function: identical protein binding;protein homodimerization activity