TXNDC8

thioredoxin domain containing 8, the group of Thioredoxin domain containing

Basic information

Region (hg38): 9:110303475-110337884

Links

ENSG00000204193 ∙ NCBI:255220 ∙ OMIM:617789 ∙ HGNC:31454 ∙ Uniprot:Q6A555 ∙ 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 TXNDC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TXNDC8 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 TXNDC8

This is a list of pathogenic ClinVar variants found in the TXNDC8 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-110303694-A-C		not specified	Uncertain significance (Jun 28, 2022)
9-110304489-C-A		not specified	Uncertain significance (Oct 03, 2022)
9-110326216-T-G		not specified	Uncertain significance (May 13, 2024)
9-110326218-A-T		not specified	Uncertain significance (May 13, 2024)
9-110329276-A-G		not specified	Uncertain significance (Aug 15, 2023)
9-110329287-A-C		not specified	Uncertain significance (May 04, 2023)
9-110337777-T-C		not specified	Uncertain significance (May 14, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TXNDC8	protein_coding	protein_coding	ENST00000374510	6	34327

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00797	0.800	125450	0	5	125455	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.409	70	61.0	1.15	0.00000310	764
Missense in Polyphen		25	17.28	1.4467		232
Synonymous	-0.00255	20	20.0	1.00	0.00000108	188
Loss of Function	1.01	4	6.86	0.583	2.91e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000616
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000579	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.0000579	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be required for post-translational modifications of proteins required for acrosomal biogenesis. May act by reducing disulfide bonds within the sperm.

Intolerance Scores

• loftool: 0.439
• rvis_EVS: 0.66
• rvis_percentile_EVS: 84.35

Haploinsufficiency Scores

• pHI: 0.121
• hipred: N
• hipred_score: 0.314

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.145

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Txndc8

Gene ontology

• Biological process: glycerol ether metabolic process;multicellular organism development;spermatogenesis;cell differentiation;cell redox homeostasis;oxidation-reduction process
• Cellular component: cytoplasm;Golgi apparatus;extracellular exosome
• Molecular function: protein disulfide oxidoreductase activity