TESHL

testicular germ cell expressed HSF2 interacting lncRNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 2:216694404-217336120

Previous symbols: [ "LINC01921" ]

Links

ENSG00000223874 ∙ NCBI:101928327 ∙ ∙ HGNC:52740 ∙ ∙ ∙ 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 TESHL gene.

Variants pathogenicity by type

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

Variants in TESHL

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

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

Position	Type	Phenotype	Significance	ClinVar
2-216694490-C-T		not specified	Uncertain significance (Aug 28, 2023)
2-216694658-G-C		not specified	Uncertain significance (Aug 08, 2023)
2-216694661-G-A		not specified	Uncertain significance (May 24, 2023)
2-216694687-C-G		not specified	Uncertain significance (Nov 22, 2024)
2-216694704-G-C		not specified	Uncertain significance (Nov 15, 2024)
2-216694726-G-C		not specified	Uncertain significance (Jan 31, 2024)
2-216859675-G-C		not specified	Uncertain significance (May 29, 2024)
2-216859681-G-T		not specified	Uncertain significance (Oct 12, 2021)
2-216859687-T-C		not specified	Uncertain significance (Apr 06, 2024)
2-216859902-C-T		not specified	Uncertain significance (Sep 29, 2023)
2-216859938-A-G		not specified	Uncertain significance (Oct 18, 2021)
2-216860001-T-C		not specified	Uncertain significance (Oct 13, 2021)
2-216860021-C-T		not specified	Uncertain significance (Apr 28, 2023)
2-216860022-G-C		not specified	Uncertain significance (Jun 11, 2024)
2-217310350-G-A		Vascular endothelial growth factor (VEGF) inhibitor response	association (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TESHL	protein_coding	protein_coding	ENST00000456163	2	868

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.484	0.442	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.522	36	46.0	0.783	0.00000210	638
Missense in Polyphen		3	1.4352	2.0903		18
Synonymous	0.742	12	15.7	0.762	6.78e-7	172
Loss of Function	1.24	0	1.79	0.00	7.45e-8	29

LoF frequencies by population

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

dbNSFP

Source: dbNSFP