TEX45

testis expressed 45

Basic information

Region (hg38): 19:7492975-7508450

Previous symbols: [ "C19orf45" ]

Links

ENSG00000198723 ∙ NCBI:374877 ∙ ∙ HGNC:24745 ∙ Uniprot:Q8NA69 ∙ 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 TEX45 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX45 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in TEX45

This is a list of pathogenic ClinVar variants found in the TEX45 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-7501306-C-G		not specified	Uncertain significance (Sep 16, 2021)
19-7504335-G-C		not specified	Uncertain significance (Sep 16, 2021)
19-7507139-C-T		not specified	Uncertain significance (Aug 12, 2021)
19-7508335-G-A		not specified	Uncertain significance (Jun 18, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX45	protein_coding	protein_coding	ENST00000361664	8	15475

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-17	0.000705	125686	0	62	125748	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.477	259	282	0.920	0.0000148	3222
Missense in Polyphen		71	81.09	0.87557		992
Synonymous	1.25	104	122	0.855	0.00000692	1015
Loss of Function	-1.11	23	17.9	1.28	7.64e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000450	0.000448
Ashkenazi Jewish	0.00	0.00
East Asian	0.000174	0.000163
Finnish	0.0000956	0.0000462
European (Non-Finnish)	0.000206	0.000202
Middle Eastern	0.000174	0.000163
South Asian	0.000707	0.000653
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.99

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.247

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tex45
• Phenotype: normal phenotype