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

Basic Information

Gene ID

1390

Name

CREM

Synonymous

cAMP responsive element modulator;CREM;cAMP responsive element modulator

Definition

CREM 2alpha-b protein|CREM 2beta-a protein|cAMP response element modulator|cAMP-responsive element modulator|inducible cAMP early repressor ICER

Position

10p11.21

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 0.05.

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.735G>T; p.E245D; 10:35207031-35207031

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.634G>T; p.A212S; 10:35206930-35206930

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.634G>T; p.A212S; 10:35206930-35206930

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.634G>T; p.A212S; 10:35206930-35206930

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.643G>A; p.A215T; 10:35206939-35206939

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.608G>T; p.G203V; 10:35206904-35206904

 breastcarcinomaSubstitution - Missense

c.53C>A; p.T18N; 10:35148376-35148376

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.17G>T; p.R6M; 10:35137852-35137852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.451G>A; p.G151R; 10:35188241-35188241

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.174A>T; p.A58A; 10:35178894-35178894

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.682G>A; p.G228R; 10:35206978-35206978

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.682G>A; p.G228R; 10:35206978-35206978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.149C>T; p.S50L; 10:35148472-35148472

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.607G>T; p.G203C; 10:35206903-35206903

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.607G>T; p.G203C; 10:35206903-35206903

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.607G>T; p.G203C; 10:35206903-35206903

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.607G>T; p.G203C; 10:35206903-35206903

 large_intestine; coloncarcinomaSubstitution - Missense

c.607G>T; p.G203C; 10:35206903-35206903

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.443C>T; p.S148F; 10:35188233-35188233

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.228T>C; p.H76H; 10:35178948-35178948

 breastcarcinomaSubstitution - coding silent

c.780G>T; p.R260S; 10:35211278-35211278

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.702G>T; p.Q234H; 10:35206998-35206998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.702G>T; p.Q234H; 10:35206998-35206998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.702G>T; p.Q234H; 10:35206998-35206998

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.19delA; p.K8fs*10; 10:35137854-35137854

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.300T>C; p.P100P; 10:35179167-35179167

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.776G>A; p.R259H; 10:35211274-35211274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.520A>G; p.T174A; 10:35188310-35188310

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.776G>A; p.R259H; 10:35211274-35211274

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.288C>T; p.S96S; 10:35179155-35179155

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.607G>A; p.G203S; 10:35206903-35206903

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.154C>T; p.P52S; 10:35148477-35148477

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.251G>A; p.R84Q; 10:35178971-35178971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.251G>A; p.R84Q; 10:35178971-35178971

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811A>C; p.N271H; 10:35211309-35211309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.266G>T; p.R89M; 10:35178986-35178986

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.505C>G; p.P169A; 10:35188295-35188295

 oesophaguscarcinomaSubstitution - Missense

c.766C>T; p.R256W; 10:35211264-35211264

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.238G>T; p.E80*; 10:35178958-35178958

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.238G>T; p.E80*; 10:35178958-35178958

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.312G>A; p.K104K; 10:35179179-35179179

 thyroidother; neoplasmSubstitution - coding silent

c.118G>A; p.A40T; 10:35148441-35148441

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.752A>C; p.N251T; 10:35207048-35207048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.134A>T; p.Q45L; 10:35148457-35148457

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.630C>T; p.I210I; 10:35206926-35206926

 skinmalignant_melanomaSubstitution - coding silent

c.630C>T; p.I210I; 10:35206926-35206926

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.724C>T; p.R242C; 10:35207020-35207020

 NSNSSubstitution - Missense

c.678G>A; p.S226S; 10:35206974-35206974

 stomachadenocarcinomaSubstitution - coding silent

c.153C>T; p.I51I; 10:35148476-35148476

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.153C>T; p.I51I; 10:35148476-35148476

 skinmalignant_melanomaSubstitution - coding silent

c.874G>T; p.D292Y; 10:35211372-35211372

 breastcarcinomaSubstitution - Missense

c.470G>T; p.G157V; 10:35188260-35188260

 pancreascarcinomaSubstitution - Missense

c.815G>A; p.R272H; 10:35211313-35211313

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

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