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. These statistics are base on transcript: . 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			69	3		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	4	0

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