Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4824

Name

NKX3-1

Synonymous

NK3 homeobox 1;NKX3-1;NK3 homeobox 1

Definition

NK homeobox, family 3, A|NK3 transcription factor homolog A|NK3 transcription factor related, locus 1|homeobox protein NK-3 homolog A|homeobox protein Nkx-3.1

Position

8p21.2

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.637G>A; p.V213M; 8:23681289-23681289

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.315C>T; p.D105D; 8:23681611-23681611

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.538A>G; p.K180E; 8:23681388-23681388

 breastcarcinomaSubstitution - Missense

c.594G>A; p.P198P; 8:23681332-23681332

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.377G>A; p.R126H; 8:23681549-23681549

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.493G>A; p.E165K; 8:23681433-23681433

 skinmalignant_melanomaSubstitution - Missense

c.493G>A; p.E165K; 8:23681433-23681433

 skinmalignant_melanomaSubstitution - Missense

c.652C>T; p.P218S; 8:23681274-23681274

 skinmalignant_melanomaSubstitution - Missense

c.619C>T; p.R207W; 8:23681307-23681307

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.340C>T; p.P114S; 8:23681586-23681586

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.511T>C; p.W171R; 8:23681415-23681415

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.692C>T; p.P231L; 8:23681234-23681234

 skinmalignant_melanomaSubstitution - Missense

c.678G>A; p.V226V; 8:23681248-23681248

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.383G>A; p.R128Q; 8:23681543-23681543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.383G>A; p.R128Q; 8:23681543-23681543

 skinmalignant_melanomaSubstitution - Missense

c.14C>T; p.P5L; 8:23682876-23682876

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.466C>T; p.H156Y; 8:23681460-23681460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.R126C; 8:23681550-23681550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.376C>T; p.R126C; 8:23681550-23681550

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.191G>A; p.G64E; 8:23682699-23682699

 skinmalignant_melanomaSubstitution - Missense

c.644A>G; p.N215S; 8:23681282-23681282

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.463G>A; p.A155T; 8:23681463-23681463

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.463G>A; p.A155T; 8:23681463-23681463

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.591G>C; p.L197F; 8:23681335-23681335

 breastcarcinomaSubstitution - Missense

c.543A>G; p.R181R; 8:23681383-23681383

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.631G>A; p.V211I; 8:23681295-23681295

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.574G>A; p.E192K; 8:23681352-23681352

 skinmalignant_melanomaSubstitution - Missense

c.401C>T; p.T134I; 8:23681525-23681525

 central_nervous_system; braingliomaSubstitution - Missense

c.436C>G; p.Q146E; 8:23681490-23681490

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.530A>G; p.Y177C; 8:23681396-23681396

 prostateadenomaSubstitution - Missense

c.530A>G; p.Y177C; 8:23681396-23681396

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.530A>G; p.Y177C; 8:23681396-23681396

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.530A>G; p.Y177C; 8:23681396-23681396

 prostatecarcinomaSubstitution - Missense

c.542G>A; p.R181Q; 8:23681384-23681384

 skinmalignant_melanomaSubstitution - Missense

c.562C>T; p.L188L; 8:23681364-23681364

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.550C>A; p.L184I; 8:23681376-23681376

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.227T>C; p.L76P; 8:23682663-23682663

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.370C>T; p.Q124*; 8:23681556-23681556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.679G>C; p.G227R; 8:23681247-23681247

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.167C>T; p.P56L; 8:23682723-23682723

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.398A>C; p.H133P; 8:23681528-23681528

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.133C>A; p.R45S; 8:23682757-23682757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.R176C; 8:23681400-23681400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.R176C; 8:23681400-23681400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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