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

Basic Information

Gene ID

116173

Name

CMTM5

Synonymous

CKLF-like MARVEL transmembrane domain containing 5;CMTM5;CKLF-like MARVEL transmembrane domain containing 5

Definition

CKLF-like MARVEL transmembrane domain-containing protein 5|chemokine-like factor super family 5|chemokine-like factor superfamily member 5

Position

14q11.2

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

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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 0.00.

The copy number variations for various cancers

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There is no record for CMTM5

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.188C>T; p.A63V; 14:23378410-23378410

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.70G>T; p.A24S; 14:23377321-23377321

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.159G>A; p.T53T; 14:23378381-23378381

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.399C>A; p.I133I; 14:23379325-23379325

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.72G>A; p.A24A; 14:23377323-23377323

 pancreascarcinomaSubstitution - coding silent

c.193C>A; p.L65M; 14:23378415-23378415

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.193C>A; p.L65M; 14:23378415-23378415

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.286C>A; p.L96M; 14:23379037-23379037

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.134C>A; p.T45N; 14:23378356-23378356

 ovaryother; neoplasmSubstitution - Missense

c.260G>A; p.R87Q; 14:23378482-23378482

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.194T>C; p.L65P; 14:23378416-23378416

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.260G>A; p.R87Q; 14:23378482-23378482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.285C>T; p.F95F; 14:23379036-23379036

 skinmalignant_melanomaSubstitution - coding silent

c.356C>A; p.A119D; 14:23379107-23379107

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.189G>A; p.A63A; 14:23378411-23378411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.189G>A; p.A63A; 14:23378411-23378411

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.255C>T; p.F85F; 14:23378477-23378477

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.280-3C>T; p.?; 14:23379028-23379028

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.183C>T; p.A61A; 14:23378405-23378405

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.412G>A; p.A138T; 14:23379338-23379338

 breastcarcinomaSubstitution - Missense

c.272C>T; p.P91L; 14:23378494-23378494

 skinmalignant_melanomaSubstitution - Missense

c.445G>A; p.G149R; 14:23379371-23379371

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.355G>C; p.A119P; 14:23379106-23379106

 prostatecarcinomaSubstitution - Missense

c.351C>T; p.D117D; 14:23379102-23379102

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.351C>T; p.D117D; 14:23379102-23379102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.170C>T; p.S57F; 14:23378392-23378392

 breastcarcinomaSubstitution - Missense

c.182C>A; p.A61D; 14:23378404-23378404

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.R84H; 14:23378473-23378473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458G>A; p.G153E; 14:23379474-23379474

 skinmalignant_melanomaSubstitution - Missense

c.78C>G; p.D26E; 14:23377329-23377329

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.101A>T; p.K34M; 14:23377352-23377352

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.234C>T; p.A78A; 14:23378456-23378456

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.41_42insG; p.V16fs*74; 14:23377292-23377293

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.41_42insG; p.V16fs*74; 14:23377292-23377293

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.121G>A; p.E41K; 14:23377372-23377372

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.24G>A; p.R8R; 14:23377275-23377275

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.286C>T; p.L96L; 14:23379037-23379037

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.138C>T; p.L46L; 14:23378360-23378360

 breastcarcinomaSubstitution - coding silent

c.450C>G; p.A150A; 14:23379376-23379376

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.143T>A; p.I48N; 14:23378365-23378365

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.44G>A; p.G15E; 14:23377295-23377295

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.23G>A; p.R8Q; 14:23377274-23377274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

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