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

Basic Information

Gene ID

9547

Name

CXCL14

Synonymous

chemokine (C-X-C motif) ligand 14;CXCL14;chemokine (C-X-C motif) ligand 14

Definition

C-X-C motif chemokine 14|CXC chemokine in breast and kidney|MIP-2 gamma|bolekine|breast and kidney|chemokine BRAK|small inducible cytokine subfamily B (Cys-X-Cys), member 14 (BRAK)|small-inducible cytokine B14|tumor-suppressing chemokine

Position

5q31

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 0.09.

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.310G>A; p.E104K; 5:135574582-135574582

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.310G>A; p.E104K; 5:135574582-135574582

 skin; trunkmalignant_melanomaSubstitution - Missense

c.117C>A; p.C39*; 5:135578523-135578523

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.102G>C; p.G34G; 5:135578538-135578538

 prostatecarcinomaSubstitution - coding silent

c.309C>A; p.N103K; 5:135574583-135574583

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.300C>T; p.N100N; 5:135574592-135574592

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.153G>C; p.V51V; 5:135578487-135578487

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.119C>T; p.S40F; 5:135578521-135578521

 skinmalignant_melanomaSubstitution - Missense

c.281G>A; p.R94H; 5:135574611-135574611

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.335A>G; p.*112W; 5:135571854-135571854

 large_intestine; coloncarcinoma; adenocarcinomaNonstop extension

c.287_289delTCA; p.I96delI; 5:135574603-135574605

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.139C>T; p.R47C; 5:135578501-135578501

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.280C>T; p.R94C; 5:135574612-135574612

 ovaryother; neoplasmSubstitution - Missense

c.280C>T; p.R94C; 5:135574612-135574612

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.198G>A; p.K66K; 5:135578442-135578442

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.328G>A; p.E110K; 5:135571861-135571861

 skinmalignant_melanomaSubstitution - Missense

c.236G>A; p.R79Q; 5:135574656-135574656

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.328G>A; p.E110K; 5:135571861-135571861

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.198G>T; p.K66N; 5:135578442-135578442

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.151G>A; p.V51M; 5:135578489-135578489

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.317G>A; p.R106H; 5:135574575-135574575

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.122G>T; p.R41L; 5:135578518-135578518

 livercarcinomaSubstitution - Missense

c.122G>T; p.R41L; 5:135578518-135578518

 livercarcinomaSubstitution - Missense

c.183G>A; p.P61P; 5:135578457-135578457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.309C>T; p.N103N; 5:135574583-135574583

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.163G>C; p.E55Q; 5:135578477-135578477

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

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