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

Basic Information

Gene ID

9318

Name

COPS2

Synonymous

COP9 signalosome subunit 2;COPS2;COP9 signalosome subunit 2

Definition

COP9 constitutive photomorphogenic homolog subunit 2|COP9 signalosome complex subunit 2|JAB1-containing signalosome subunit 2|TR-interacting protein 15|TRIP-15|alien homolog|signalosome subunit 2|thyroid receptor interacting protein 15|thyroid receptor-in

Position

15q21.2

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

Top

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.09.

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.1200C>T; p.G400G; 15:49128082-49128082

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.878C>A; p.P293Q; 15:49133946-49133946

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.346C>A; p.L116I; 15:49139554-49139554

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.44A>G; p.D15G; 15:49155535-49155535

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.272G>A; p.R91K; 15:49139628-49139628

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1208A>T; p.D403V; 15:49128074-49128074

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.725G>A; p.G242D; 15:49134099-49134099

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.298C>T; p.R100W; 15:49139602-49139602

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.206T>G; p.F69C; 15:49144267-49144267

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1265C>T; p.T422I; 15:49128017-49128017

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.529C>T; p.Q177*; 15:49137161-49137161

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.1042G>A; p.E348K; 15:49130722-49130722

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1298C>A; p.S433Y; 15:49127984-49127984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1298C>A; p.S433Y; 15:49127984-49127984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1290A>T; p.Q430H; 15:49127992-49127992

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1290A>T; p.Q430H; 15:49127992-49127992

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1290A>T; p.Q430H; 15:49127992-49127992

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.92A>T; p.D31V; 15:49145041-49145041

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.92A>T; p.D31V; 15:49145041-49145041

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1236T>A; p.D412E; 15:49128046-49128046

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.168G>A; p.K56K; 15:49144965-49144965

 stomachadenocarcinomaSubstitution - coding silent

c.1259G>A; p.R420Q; 15:49128023-49128023

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1199G>A; p.G400D; 15:49128083-49128083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.716-2A>T; p.?; 15:49134110-49134110

 livercarcinoma; hepatocellular_carcinomaUnknown

c.147G>A; p.A49A; 15:49144986-49144986

 prostatecarcinomaSubstitution - coding silent

c.152T>C; p.L51S; 15:49144981-49144981

 skinmalignant_melanomaSubstitution - Missense

c.1148C>T; p.A383V; 15:49128741-49128741

 breastcarcinomaSubstitution - Missense

c.500A>G; p.K167R; 15:49137190-49137190

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.77C>T; p.S26F; 15:49145056-49145056

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.1304A>G; p.N435S; 15:49127978-49127978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1304A>G; p.N435S; 15:49127978-49127978

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.28T>G; p.C10G; 15:49155551-49155551

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1182G>T; p.L394F; 15:49128707-49128707

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.309C>T; p.V103V; 15:49139591-49139591

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.309C>T; p.V103V; 15:49139591-49139591

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1327G>A; p.A443T; 15:49127955-49127955

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272G>C; p.R91T; 15:49139628-49139628

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.62C>G; p.S21C; 15:49145071-49145071

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.680C>T; p.A227V; 15:49134375-49134375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.891G>A; p.Q297Q; 15:49133933-49133933

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.341C>T; p.S114F; 15:49139559-49139559

 skinmalignant_melanomaSubstitution - Missense

c.933G>A; p.M311I; 15:49133773-49133773

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.752T>G; p.F251C; 15:49134072-49134072

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.488A>G; p.E163G; 15:49137202-49137202

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.200G>A; p.W67*; 15:49144273-49144273

 skinmalignant_melanomaSubstitution - Nonsense

c.463-1G>A; p.?; 15:49137228-49137228

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.512T>A; p.I171N; 15:49137178-49137178

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.950C>A; p.A317D; 15:49130814-49130814

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.293A>G; p.Y98C; 15:49139607-49139607

 livercarcinomaSubstitution - Missense

c.293A>G; p.Y98C; 15:49139607-49139607

 livercarcinomaSubstitution - Missense

c.919G>C; p.E307Q; 15:49133787-49133787

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.298C>A; p.R100R; 15:49139602-49139602

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.202G>A; p.G68R; 15:49144271-49144271

 skinmalignant_melanomaSubstitution - Missense

c.805G>A; p.G269R; 15:49134019-49134019

 large_intestine; rectumNSSubstitution - Missense

c.877C>T; p.P293S; 15:49133947-49133947

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.877C>T; p.P293S; 15:49133947-49133947

 skinmalignant_melanomaSubstitution - Missense

c.575C>T; p.T192I; 15:49134480-49134480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.192delA; p.G65fs*8; 15:49144281-49144281

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1177A>G; p.I393V; 15:49128712-49128712

 oesophaguscarcinomaSubstitution - Missense

c.1000C>T; p.H334Y; 15:49130764-49130764

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.34G>A; p.D12N; 15:49155545-49155545

 livercarcinomaSubstitution - Missense

c.77C>G; p.S26C; 15:49145056-49145056

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.945A>T; p.V315V; 15:49133761-49133761

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1052delT; p.L351fs*10; 15:49129553-49129553

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.903G>A; p.P301P; 15:49133803-49133803

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.325G>C; p.E109Q; 15:49139575-49139575

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.162C>T; p.F54F; 15:49144971-49144971

 skinmalignant_melanomaSubstitution - coding silent

c.1258C>T; p.R420*; 15:49128024-49128024

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.641T>G; p.L214R; 15:49134414-49134414

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.129delA; p.E44fs*8; 15:49145004-49145004

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.1075C>T; p.L359F; 15:49129530-49129530

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.740G>C; p.R247T; 15:49134084-49134084

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.769G>T; p.D257Y; 15:49134055-49134055

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.782_783CC>TT; p.A261V; 15:49134041-49134042

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.299G>T; p.R100L; 15:49139601-49139601

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.77_78CC>TT; p.S26F; 15:49145055-49145056

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.795T>G; p.Y265*; 15:49134029-49134029

 skinmalignant_melanomaSubstitution - Nonsense

c.895-1G>C; p.?; 15:49133812-49133812

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.136G>A; p.D46N; 15:49144997-49144997

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.773T>G; p.F258C; 15:49134051-49134051

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.955C>T; p.Q319*; 15:49130809-49130809

 skinmalignant_melanomaSubstitution - Nonsense

c.955C>T; p.Q319*; 15:49130809-49130809

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1162T>C; p.L388L; 15:49128727-49128727

 skinmalignant_melanomaSubstitution - coding silent

c.481G>A; p.E161K; 15:49137209-49137209

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.5C>G; p.S2C; 15:49155574-49155574

 central_nervous_system; braingliomaSubstitution - Missense

c.498A>T; p.G166G; 15:49137192-49137192

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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