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

Basic Information

Gene ID

90993

Name

CREB3L1

Synonymous

cAMP responsive element binding protein 3-like 1;CREB3L1;cAMP responsive element binding protein 3-like 1

Definition

BBF-2 homolog|cAMP-responsive element-binding protein 3-like protein 1|cyclic AMP-responsive element-binding protein 3-like protein 1|old astrocyte specifically-induced substance

Position

11p11.2

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

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 0.07.

The copy number variations for various cancers

Top

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.1558T>C; p.*520Q; 11:46320744-46320744

 endometriumcarcinoma; endometrioid_carcinomaNonstop extension

c.705G>A; p.A235A; 11:46311141-46311141

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.705G>A; p.A235A; 11:46311141-46311141

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.754-1G>T; p.?; 11:46312324-46312324

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.888G>A; p.R296R; 11:46312459-46312459

 skinmalignant_melanomaSubstitution - coding silent

c.888G>A; p.R296R; 11:46312459-46312459

 skinmalignant_melanomaSubstitution - coding silent

c.507C>T; p.I169I; 11:46307991-46307991

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1477G>A; p.G493S; 11:46320482-46320482

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.466A>G; p.T156A; 11:46307950-46307950

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.214G>T; p.D72Y; 11:46300046-46300046

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.445_446insC; p.A150fs*66; 11:46307929-46307930

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.885G>A; p.R295R; 11:46312456-46312456

 skinmalignant_melanomaSubstitution - coding silent

c.681C>A; p.P227P; 11:46311117-46311117

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1354G>A; p.E452K; 11:46320359-46320359

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1354G>A; p.E452K; 11:46320359-46320359

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1354G>A; p.E452K; 11:46320359-46320359

 skinmalignant_melanomaSubstitution - Missense

c.430C>T; p.P144S; 11:46307914-46307914

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.132G>A; p.T44T; 11:46299964-46299964

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.253G>A; p.E85K; 11:46300085-46300085

 skinmalignant_melanomaSubstitution - Missense

c.1225C>A; p.L409M; 11:46317454-46317454

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.803G>A; p.R268Q; 11:46312374-46312374

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1303T>C; p.W435R; 11:46320308-46320308

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1156G>C; p.V386L; 11:46317385-46317385

 livercarcinomaSubstitution - Missense

c.1156G>C; p.V386L; 11:46317385-46317385

 livercarcinomaSubstitution - Missense

c.1525-2A>G; p.?; 11:46320708-46320708

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1221C>A; p.D407E; 11:46317450-46317450

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.185C>A; p.P62H; 11:46300017-46300017

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1556C>T; p.S519F; 11:46320742-46320742

 skinmalignant_melanomaSubstitution - Missense

c.252G>A; p.A84A; 11:46300084-46300084

 NSNSSubstitution - coding silent

c.1523G>T; p.R508M; 11:46320528-46320528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.960G>C; p.K320N; 11:46312668-46312668

 breastcarcinomaSubstitution - Missense

c.802C>T; p.R268W; 11:46312373-46312373

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.631A>G; p.S211G; 11:46311067-46311067

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1240G>A; p.V414I; 11:46317469-46317469

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.648C>T; p.S216S; 11:46311084-46311084

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1240G>A; p.V414I; 11:46317469-46317469

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.429C>T; p.A143A; 11:46307913-46307913

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.884G>A; p.R295Q; 11:46312455-46312455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1315C>T; p.R439C; 11:46320320-46320320

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.703G>C; p.A235P; 11:46311139-46311139

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1411C>G; p.H471D; 11:46320416-46320416

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.492G>C; p.L164F; 11:46307976-46307976

 ovaryother; neoplasmSubstitution - Missense

c.1191C>A; p.F397L; 11:46317420-46317420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.447C>T; p.A149A; 11:46307931-46307931

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.174C>A; p.F58L; 11:46300006-46300006

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1285G>A; p.D429N; 11:46320290-46320290

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.795G>T; p.E265D; 11:46312366-46312366

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1247C>T; p.T416M; 11:46317476-46317476

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.825C>T; p.Y275Y; 11:46312396-46312396

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.1301T>A; p.L434*; 11:46320306-46320306

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.604G>T; p.V202L; 11:46311040-46311040

 NSNSSubstitution - Missense

c.1319G>A; p.S440N; 11:46320324-46320324

 skinmalignant_melanomaSubstitution - Missense

c.1306G>A; p.E436K; 11:46320311-46320311

 skinmalignant_melanomaSubstitution - Missense

c.704C>T; p.A235V; 11:46311140-46311140

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1248G>A; p.T416T; 11:46317477-46317477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.883C>T; p.R295W; 11:46312454-46312454

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.523G>A; p.G175R; 11:46309995-46309995

 skinmalignant_melanomaSubstitution - Missense

c.1376C>T; p.A459V; 11:46320381-46320381

 breastcarcinomaSubstitution - Missense

c.676delC; p.S228fs*35; 11:46311112-46311112

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1131+1G>T; p.?; 11:46316386-46316386

 ovarycarcinoma; serous_carcinomaUnknown

c.1135G>A; p.A379T; 11:46317364-46317364

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.427_428insC; p.S145fs*71; 11:46307911-46307912

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1231G>A; p.A411T; 11:46317460-46317460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.704C>A; p.A235E; 11:46311140-46311140

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.276C>G; p.G92G; 11:46300108-46300108

 livercarcinomaSubstitution - coding silent

c.273C>T; p.S91S; 11:46300105-46300105

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.212T>C; p.L71S; 11:46300044-46300044

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1372C>T; p.P458S; 11:46320377-46320377

 skinmalignant_melanomaSubstitution - Missense

c.169A>T; p.S57C; 11:46300001-46300001

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1029C>T; p.N343N; 11:46312917-46312917

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.753C>A; p.H251Q; 11:46311189-46311189

 livercarcinomaSubstitution - Missense

c.753C>A; p.H251Q; 11:46311189-46311189

 livercarcinomaSubstitution - Missense

c.14T>C; p.L5S; 11:46278125-46278125

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1069G>T; p.V357F; 11:46316323-46316323

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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