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

Basic Information

Gene ID

8915

Name

BCL10

Synonymous

B-cell CLL/lymphoma 10;BCL10;B-cell CLL/lymphoma 10

Definition

B-cell lymphoma/leukemia 10|CARD containing molecule enhancing NF-kB|CARD-containing apoptotic signaling protein|CARD-containing molecule enhancing NF-kappa-B|CARD-containing proapoptotic protein|CED-3/ICH-1 prodomain homologous E10-like regulator|cCARMEN

Position

1p22

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 0.32.

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.407C>G; p.S136*; 1:85267922-85267922

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.457A>G; p.M153V; 1:85267872-85267872

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.54G>A; p.K18K; 1:85276299-85276299

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.403A>T; p.R135*; 1:85267926-85267926

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.276G>T; p.Q92H; 1:85270688-85270688

 breastcarcinomaSubstitution - Missense

c.372T>G; p.P124P; 1:85267957-85267957

 livercarcinomaSubstitution - coding silent

c.372T>G; p.P124P; 1:85267957-85267957

 livercarcinomaSubstitution - coding silent

c.215T>C; p.L72S; 1:85270749-85270749

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.282C>T; p.F94F; 1:85270682-85270682

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.346G>C; p.G116R; 1:85270618-85270618

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.441G>A; p.L147L; 1:85267888-85267888

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.441G>A; p.L147L; 1:85267888-85267888

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.56A>T; p.D19V; 1:85276297-85276297

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.136delA; p.I46fs*24; 1:85270828-85270828

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaDeletion - Frameshift

c.136delA; p.I46fs*24; 1:85270828-85270828

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.136delA; p.I46fs*24; 1:85270828-85270828

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.638G>A; p.G213E; 1:85267691-85267691

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.638G>A; p.G213E; 1:85267691-85267691

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.638G>A; p.G213E; 1:85267691-85267691

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.638G>A; p.G213E; 1:85267691-85267691

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.638G>A; p.G213E; 1:85267691-85267691

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.616G>T; p.D206Y; 1:85267713-85267713

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.509C>T; p.S170F; 1:85267820-85267820

 skinmalignant_melanomaSubstitution - Missense

c.287T>C; p.I96T; 1:85270677-85270677

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.635_637delAAG; p.E212delE; 1:85267692-85267694

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.436A>T; p.K146*; 1:85267893-85267893

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.305A>T; p.E102V; 1:85270659-85270659

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.479C>T; p.S160F; 1:85267850-85267850

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.262C>G; p.R88G; 1:85270702-85270702

 breastcarcinomaSubstitution - Missense

c.322A>C; p.N108H; 1:85270642-85270642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.73C>T; p.R25C; 1:85270891-85270891

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.17C>A; p.P6Q; 1:85276336-85276336

 skinmalignant_melanomaSubstitution - Missense

c.172C>T; p.R58*; 1:85270792-85270792

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.500C>T; p.S167F; 1:85267829-85267829

 skinmalignant_melanomaSubstitution - Missense

c.418G>T; p.E140*; 1:85267911-85267911

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.534A>G; p.E178E; 1:85267795-85267795

 pancreascarcinomaSubstitution - coding silent

c.682C>T; p.R228C; 1:85267647-85267647

 breastcarcinomaSubstitution - Missense

c.534A>G; p.E178E; 1:85267795-85267795

 pancreascarcinomaSubstitution - coding silent

c.24C>G; p.L8L; 1:85276329-85276329

 thyroidother; neoplasmSubstitution - coding silent

c.499delT; p.S167fs*6; 1:85267830-85267830

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.499delT; p.S167fs*6; 1:85267830-85267830

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.258T>G; p.I86M; 1:85270706-85270706

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.517A>C; p.N173H; 1:85267812-85267812

 pancreascarcinomaSubstitution - Missense

c.517A>C; p.N173H; 1:85267812-85267812

 pancreascarcinomaSubstitution - Missense

c.658G>T; p.E220*; 1:85267671-85267671

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.566C>G; p.S189*; 1:85267763-85267763

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.115G>C; p.D39H; 1:85270849-85270849

 lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.271_272insA; p.T91fs*12; 1:85270692-85270693

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.675A>T; p.L225F; 1:85267654-85267654

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.184A>G; p.R62G; 1:85270780-85270780

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.200A>C; p.K67T; 1:85270764-85270764

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.674T>G; p.L225*; 1:85267655-85267655

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Nonsense

c.637G>A; p.G213R; 1:85267692-85267692

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.489G>A; p.T163T; 1:85267840-85267840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.489G>A; p.T163T; 1:85267840-85267840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.680C>T; p.S227L; 1:85267649-85267649

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.124C>T; p.R42C; 1:85270840-85270840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.235C>A; p.L79M; 1:85270729-85270729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.629A>C; p.E210A; 1:85267700-85267700

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.137_138insA; p.L47fs*3; 1:85270826-85270827

 skin; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.127_128GC>TA; p.A43>?; 1:85270836-85270837

 lungcarcinoma; small_cell_carcinomaComplex

c.263G>A; p.R88Q; 1:85270701-85270701

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.263G>A; p.R88Q; 1:85270701-85270701

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.135_136insA; p.I46fs*4; 1:85270828-85270829

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.685A>T; p.T229S; 1:85267644-85267644

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.157G>C; p.E53Q; 1:85270807-85270807

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.256A>G; p.I86V; 1:85270708-85270708

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.136_137insA; p.I46fs*4; 1:85270827-85270828

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.136_137insA; p.I46fs*4; 1:85270827-85270828

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

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