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

Basic Information

Gene ID

10370

Name

CITED2

Synonymous

Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2;CITED2;Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2

Definition

MSG-related protein 1|MSG1-related gene 1|cbp/p300-interacting transactivator 2|melanocyte-specific gene 1-related gene 1

Position

6q23.3

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 0.19.

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.682C>A; p.L228I; 6:139373263-139373263

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31G>T; p.G11W; 6:139373914-139373914

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.21C>A; p.A7A; 6:139373924-139373924

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.21C>A; p.A7A; 6:139373924-139373924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.21C>A; p.A7A; 6:139373924-139373924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.545G>C; p.S182T; 6:139373400-139373400

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.760G>A; p.D254N; 6:139373185-139373185

 breastcarcinomaSubstitution - Missense

c.390C>G; p.P130P; 6:139373555-139373555

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.326C>T; p.S109F; 6:139373619-139373619

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.213T>C; p.H71H; 6:139373732-139373732

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.102G>T; p.P34P; 6:139373843-139373843

 thyroidother; neoplasmSubstitution - coding silent

c.301C>T; p.P101S; 6:139373644-139373644

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.598_599insGCGGCA; p.G199_N200insSG; 6:139373346-139373347

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.708T>G; p.G236G; 6:139373237-139373237

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.305delC; p.P102fs*45; 6:139373640-139373640

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.708T>G; p.G236G; 6:139373237-139373237

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.669C>G; p.I223M; 6:139373276-139373276

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.67C>T; p.H23Y; 6:139373878-139373878

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.109C>A; p.H37N; 6:139373836-139373836

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.251delC; p.P84fs*63; 6:139373694-139373694

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.47G>T; p.G16V; 6:139373898-139373898

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.39C>T; p.F13F; 6:139373906-139373906

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.135G>A; p.Q45Q; 6:139373810-139373810

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.135G>A; p.Q45Q; 6:139373810-139373810

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.690C>T; p.S230S; 6:139373255-139373255

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.9C>T; p.D3D; 6:139373936-139373936

 skinmalignant_melanomaSubstitution - coding silent

c.229A>G; p.T77A; 6:139373716-139373716

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.117_119delCCA; p.H39delH; 6:139373826-139373828

 eye; uveal_tractmalignant_melanoma; spindleDeletion - In frame

c.242G>T; p.G81V; 6:139373703-139373703

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.368A>T; p.Y123F; 6:139373577-139373577

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.593_598delGCGGCA; p.S198_G199delSG; 6:139373347-139373352

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.410delA; p.D137fs*10; 6:139373535-139373535

 livercarcinomaDeletion - Frameshift

c.317A>T; p.Q106L; 6:139373628-139373628

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.187A>G; p.M63V; 6:139373758-139373758

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.697A>G; p.I233V; 6:139373248-139373248

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.733G>A; p.E245K; 6:139373212-139373212

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.574A>G; p.S192G; 6:139373371-139373371

 breastcarcinomaSubstitution - Missense

c.627C>A; p.P209P; 6:139373318-139373318

 thyroidcarcinomaSubstitution - coding silent

c.99C>T; p.F33F; 6:139373846-139373846

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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