TXNDC11

thioredoxin domain containing 11, the group of Thioredoxin domain containing

Basic information

Region (hg38): 16:11679083-11742857

Links

ENSG00000153066 ∙ NCBI:51061 ∙ OMIM:617792 ∙ HGNC:28030 ∙ Uniprot:Q6PKC3 ∙ 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 TXNDC11 gene.

• not_specified (159 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TXNDC11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015914.7. 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	3	4
missense			152	8		160
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	152	9	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TXNDC11	protein_coding	protein_coding	ENST00000283033	12	63799

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.68e-10	0.989	125640	0	108	125748	0.000430

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.28	593	511	1.16	0.0000294	6188
Missense in Polyphen		184	189.71	0.96991		2423
Synonymous	-2.57	261	213	1.22	0.0000130	1928
Loss of Function	2.45	22	38.4	0.573	0.00000196	453

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000659	0.000659
Ashkenazi Jewish	0.00	0.00
East Asian	0.000165	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000701	0.000695
Middle Eastern	0.000165	0.000163
South Asian	0.000196	0.000196
Other	0.000507	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a redox regulator involved in DUOX proteins folding. The interaction with DUOX1 and DUOX2 suggest that it belongs to a multiprotein complex constituting the thyroid H(2)O(2) generating system. It is however not sufficient to assist DUOX1 and DUOX2 in H(2)O(2) generation.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.630
• rvis_EVS: -1.01
• rvis_percentile_EVS: 8.17

Haploinsufficiency Scores

• pHI: 0.461
• hipred: N
• hipred_score: 0.400
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Txndc11

Gene ontology

• Biological process: cell redox homeostasis
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: protein binding