THEG

theg spermatid protein

Basic information

Region (hg38): 19:361746-376026

Links

ENSG00000105549 ∙ NCBI:51298 ∙ OMIM:609503 ∙ HGNC:13706 ∙ Uniprot:Q9P2T0 ∙ 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 THEG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THEG 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		1
missense			55	2		57
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	3	0

Variants in THEG

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

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

Position	Type	Phenotype	Significance	ClinVar
19-362219-T-G		not specified	Uncertain significance (Sep 01, 2021)
19-362273-G-C		not specified	Uncertain significance (Jan 31, 2024)
19-362276-C-T		not specified	Likely benign (Sep 22, 2023)
19-362306-C-A		not specified	Uncertain significance (Sep 14, 2022)
19-362307-G-A		not specified	Uncertain significance (Aug 15, 2023)
19-362317-C-G		not specified	Uncertain significance (May 03, 2023)
19-362357-T-G		not specified	Uncertain significance (Feb 28, 2024)
19-362366-T-A		not specified	Uncertain significance (Sep 16, 2021)
19-362381-C-T		not specified	Uncertain significance (Nov 22, 2022)
19-362385-G-A		not specified	Uncertain significance (May 05, 2023)
19-362397-G-C		not specified	Uncertain significance (Jan 04, 2024)
19-362404-C-G		not specified	Uncertain significance (Jan 05, 2022)
19-362418-C-G		not specified	Uncertain significance (Nov 08, 2022)
19-367082-C-G		not specified	Uncertain significance (Sep 29, 2022)
19-367100-T-C		not specified	Uncertain significance (Oct 03, 2023)
19-367143-T-G		not specified	Uncertain significance (Dec 21, 2021)
19-367179-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-367181-G-A		not specified	Uncertain significance (Nov 23, 2021)
19-367220-G-C		not specified	Uncertain significance (Dec 06, 2022)
19-371272-G-A		not specified	Uncertain significance (Oct 30, 2023)
19-372635-T-C		not specified	Uncertain significance (Sep 29, 2022)
19-372670-C-T		not specified	Uncertain significance (Dec 28, 2022)
19-372677-G-C		not specified	Uncertain significance (Oct 20, 2021)
19-372688-C-T		not specified	Uncertain significance (Dec 19, 2023)
19-372692-G-A		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
THEG	protein_coding	protein_coding	ENST00000342640	8	14264

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.02e-9	0.222	123574	117	2056	125747	0.00868

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.993	270	228	1.19	0.0000144	2439
Missense in Polyphen		81	67.222	1.205		697
Synonymous	-0.383	93	88.4	1.05	0.00000536	752
Loss of Function	0.508	14	16.2	0.864	7.48e-7	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.128	0.126
Ashkenazi Jewish	0.00179	0.00179
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000501	0.000492
Middle Eastern	0.000219	0.000217
South Asian	0.000666	0.000621
Other	0.00461	0.00457

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved (but not essential) in spermatogenesis. {ECO:0000250}.

Recessive Scores

• pRec: 0.0952

Intolerance Scores

• loftool: 0.956
• rvis_EVS: -0.13
• rvis_percentile_EVS: 44.05

Haploinsufficiency Scores

• pHI: 0.0783
• hipred: N
• hipred_score: 0.211
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0696

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Theg
• Phenotype: reproductive system phenotype; normal phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: multicellular organism development;spermatogenesis;cell differentiation;chaperone-mediated protein complex assembly
• Cellular component: nucleus
• Molecular function: protein binding