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

Basic Information

Gene ID

55654

Name

TMEM127

Synonymous

transmembrane protein 127;TMEM127;transmembrane protein 127

Definition

-

Position

2q11.2

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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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.346T>G; p.F116V; 2:96254896-96254896

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.446G>T; p.W149L; 2:96254079-96254079

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.480_482delGCA; p.Q160delQ; 2:96254043-96254045

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.480_482delGCA; p.Q160delQ; 2:96254043-96254045

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.480_482delGCA; p.Q160delQ; 2:96254043-96254045

 stomachcarcinoma; diffuse_adenocarcinomaDeletion - In frame

c.480_482delGCA; p.Q160delQ; 2:96254043-96254045

 skinmalignant_melanomaDeletion - In frame

c.254T>C; p.M85T; 2:96254988-96254988

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.312C>T; p.I104I; 2:96254930-96254930

 skinmalignant_melanomaSubstitution - coding silent

c.416A>G; p.Q139R; 2:96254109-96254109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.385T>C; p.Y129H; 2:96254857-96254857

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.274C>G; p.L92V; 2:96254968-96254968

 ovaryother; neoplasmSubstitution - Missense

c.274C>G; p.L92V; 2:96254968-96254968

 ovaryother; neoplasmSubstitution - Missense

c.469_471delCAG; p.Q160delQ; 2:96254054-96254056

 soft_tissue; striated_musclerhabdomyosarcomaDeletion - In frame

c.521C>T; p.A174V; 2:96254004-96254004

 skinmalignant_melanomaSubstitution - Missense

c.637G>C; p.E213Q; 2:96253888-96253888

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.275T>C; p.L92P; 2:96254967-96254967

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.701delC; p.P234fs*>5; 2:96253824-96253824

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.77A>G; p.Q26R; 2:96265305-96265305

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.523G>A; p.V175I; 2:96254002-96254002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.482_483insGCA; p.Q160_H161insQ; 2:96254042-96254043

 endometriumcarcinoma; endometrioid_carcinomaInsertion - In frame

c.621G>A; p.A207A; 2:96253904-96253904

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.589C>T; p.R197C; 2:96253936-96253936

 skinmalignant_melanomaSubstitution - Missense

c.702_703insC; p.A235fs*>5; 2:96253822-96253823

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.448G>A; p.A150T; 2:96254077-96254077

 skinmalignant_melanomaSubstitution - Missense

c.665C>T; p.A222V; 2:96253860-96253860

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.393C>T; p.F131F; 2:96254849-96254849

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.560C>T; p.S187L; 2:96253965-96253965

 livercarcinomaSubstitution - Missense

c.603A>C; p.T201T; 2:96253922-96253922

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.560C>T; p.S187L; 2:96253965-96253965

 livercarcinomaSubstitution - Missense

c.560C>T; p.S187L; 2:96253965-96253965

 livercarcinomaSubstitution - Missense

c.560C>T; p.S187L; 2:96253965-96253965

 livercarcinomaSubstitution - Missense

c.544G>A; p.G182R; 2:96253981-96253981

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.620C>T; p.A207V; 2:96253905-96253905

 prostatecarcinomaSubstitution - Missense

c.452C>G; p.S151C; 2:96254073-96254073

 breastcarcinomaSubstitution - Missense

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