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

Basic Information

Gene ID

123920

Name

CMTM3

Synonymous

CKLF-like MARVEL transmembrane domain containing 3;CMTM3;CKLF-like MARVEL transmembrane domain containing 3

Definition

CKLF-like MARVEL transmembrane domain-containing protein 3|chemokine-like factor superfamily member 3

Position

16q21

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 0.10.

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.304-2A>G; p.?; 16:66609433-66609433

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.457G>A; p.D153N; 16:66609940-66609940

skinmalignant_melanomaSubstitution - Missense

c.375G>A; p.S125S; 16:66609506-66609506

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.174C>A; p.C58*; 16:66608335-66608335

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.363C>T; p.I121I; 16:66609494-66609494

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.364G>A; p.A122T; 16:66609495-66609495

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.313C>T; p.R105C; 16:66609444-66609444

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.423C>A; p.I141I; 16:66609906-66609906

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.336C>T; p.I112I; 16:66609467-66609467

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.176A>T; p.Y59F; 16:66608337-66608337

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472C>T; p.L158F; 16:66609955-66609955

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.190G>A; p.A64T; 16:66608351-66608351

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.190G>A; p.A64T; 16:66608351-66608351

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.460G>A; p.V154M; 16:66609943-66609943

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.182C>T; p.A61V; 16:66608343-66608343

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.96G>A; p.P32P; 16:66604901-66604901

thyroidother; neoplasmSubstitution - coding silent

c.517G>C; p.E173Q; 16:66610000-66610000

breastcarcinomaSubstitution - Missense

c.167T>G; p.F56C; 16:66608328-66608328

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.486delC; p.S163fs*>20; 16:66609969-66609969

skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift


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