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

Basic Information

Gene ID

7184

Name

HSP90B1

Synonymous

heat shock protein 90kDa beta (Grp94), member 1;HSP90B1;heat shock protein 90kDa beta (Grp94), member 1

Definition

94 kDa glucose-regulated protein|endoplasmin|endothelial cell (HBMEC) glycoprotein|epididymis luminal protein 35|epididymis secretory sperm binding protein Li 125m|heat shock protein 90 kDa beta member 1|stress-inducible tumor rejection antigen gp96|tumor

Position

12q24.2-q24.3

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

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 0.17.

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.831T>G; p.F277L; 12:103937782-103937782

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2258C>G; p.A753G; 12:103946937-103946937

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1219G>A; p.D407N; 12:103941536-103941536

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1404G>A; p.T468T; 12:103942556-103942556

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.743+1G>A; p.?; 12:103934288-103934288

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1745A>G; p.E582G; 12:103943174-103943174

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.228T>C; p.F76F; 12:103932352-103932352

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1517T>C; p.L506P; 12:103942669-103942669

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2096G>A; p.R699Q; 12:103946686-103946686

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.670G>A; p.E224K; 12:103934214-103934214

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1568G>A; p.S523N; 12:103942720-103942720

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2037G>A; p.A679A; 12:103946627-103946627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2170C>T; p.R724W; 12:103946849-103946849

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1240C>T; p.R414C; 12:103941638-103941638

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1742C>T; p.P581L; 12:103943171-103943171

 skinmalignant_melanomaSubstitution - Missense

c.1240C>T; p.R414C; 12:103941638-103941638

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2170C>T; p.R724W; 12:103946849-103946849

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2170C>T; p.R724W; 12:103946849-103946849

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1261G>A; p.D421N; 12:103941659-103941659

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1261G>A; p.D421N; 12:103941659-103941659

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1802G>A; p.S601N; 12:103943231-103943231

 skin; shouldermalignant_melanomaSubstitution - Missense

c.825A>G; p.I275M; 12:103937776-103937776

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.737delC; p.T246fs*6; 12:103934281-103934281

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1891-1G>C; p.?; 12:103943737-103943737

 breastcarcinomaUnknown

c.1814A>C; p.K605T; 12:103943243-103943243

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2369A>C; p.E790A; 12:103947417-103947417

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2396A>C; p.E799A; 12:103947646-103947646

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1650A>T; p.E550D; 12:103943079-103943079

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1682_1683insC; p.K561fs*4; 12:103943111-103943112

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.762A>T; p.E254D; 12:103937713-103937713

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.317C>G; p.S106*; 12:103932848-103932848

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.820T>C; p.F274L; 12:103937771-103937771

 skinmalignant_melanomaSubstitution - Missense

c.467G>A; p.R156K; 12:103934011-103934011

 ovarycarcinoma; clear_cell_carcinomaSubstitution - Missense

c.699T>C; p.I233I; 12:103934243-103934243

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.849C>A; p.S283R; 12:103937800-103937800

 prostatecarcinomaSubstitution - Missense

c.195A>G; p.Q65Q; 12:103932319-103932319

 skinmalignant_melanomaSubstitution - coding silent

c.2371G>A; p.E791K; 12:103947419-103947419

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.E301K; 12:103938385-103938385

 skinmalignant_melanomaSubstitution - Missense

c.599A>T; p.Y200F; 12:103934143-103934143

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.973A>C; p.K325Q; 12:103938457-103938457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2028-11_2032del16; p.?; 12:103946607-103946622

 livercarcinomaUnknown

c.84T>G; p.D28E; 12:103931555-103931555

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1503G>A; p.S501S; 12:103942655-103942655

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1503G>A; p.S501S; 12:103942655-103942655

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1508G>A; p.R503Q; 12:103942660-103942660

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.475T>C; p.L159L; 12:103934019-103934019

 skinmalignant_melanomaSubstitution - coding silent

c.184A>C; p.N62H; 12:103932308-103932308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1606G>A; p.D536N; 12:103942758-103942758

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.722T>C; p.L241P; 12:103934266-103934266

 livercarcinomaSubstitution - Missense

c.722T>C; p.L241P; 12:103934266-103934266

 livercarcinomaSubstitution - Missense

c.1686C>T; p.G562G; 12:103943115-103943115

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2032T>G; p.Y678D; 12:103946622-103946622

 livercarcinomaSubstitution - Missense

c.450C>A; p.T150T; 12:103933994-103933994

 prostateadenomaSubstitution - coding silent

c.1271A>T; p.D424V; 12:103941669-103941669

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2341G>T; p.E781*; 12:103947389-103947389

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2332G>A; p.E778K; 12:103947380-103947380

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2332G>A; p.E778K; 12:103947380-103947380

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2332G>A; p.E778K; 12:103947380-103947380

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1071T>C; p.A357A; 12:103939604-103939604

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2341G>C; p.E781Q; 12:103947389-103947389

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.22G>T; p.G8C; 12:103930537-103930537

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.292G>C; p.E98Q; 12:103932416-103932416

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2370A>C; p.E790D; 12:103947418-103947418

 livercarcinomaSubstitution - Missense

c.2115A>C; p.E705D; 12:103946794-103946794

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2370A>C; p.E790D; 12:103947418-103947418

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1578G>A; p.Q526Q; 12:103942730-103942730

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.160G>A; p.E54K; 12:103932284-103932284

 skinmalignant_melanomaSubstitution - Missense

c.710G>A; p.R237K; 12:103934254-103934254

 livercarcinomaSubstitution - Missense

c.795A>G; p.K265K; 12:103937746-103937746

 livercarcinomaSubstitution - coding silent

c.537T>C; p.T179T; 12:103934081-103934081

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1914G>A; p.Q638Q; 12:103943761-103943761

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.495C>T; p.T165T; 12:103934039-103934039

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1744G>A; p.E582K; 12:103943173-103943173

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2300_2311del12; p.T771_T774delTEDT; 12:103947348-103947359

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - In frame

c.390G>A; p.E130E; 12:103932921-103932921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2246T>C; p.I749T; 12:103946925-103946925

 soft_tissue; fatliposarcoma; myxoid-round_cellSubstitution - Missense

c.3G>A; p.M1I; 12:103930518-103930518

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.339T>A; p.D113E; 12:103932870-103932870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1220_1224delATTAC; p.Y408fs*1; 12:103941537-103941541

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.367G>A; p.E123K; 12:103932898-103932898

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.174G>T; p.L58F; 12:103932298-103932298

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1794C>T; p.F598F; 12:103943223-103943223

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2318A>G; p.D773G; 12:103947366-103947366

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2277C>T; p.P759P; 12:103947325-103947325

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.57C>T; p.V19V; 12:103931528-103931528

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1657C>T; p.P553S; 12:103943086-103943086

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.275C>T; p.S92L; 12:103932399-103932399

 breastcarcinomaSubstitution - Missense

c.1459G>T; p.E487*; 12:103942611-103942611

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1459G>T; p.E487*; 12:103942611-103942611

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1688A>T; p.Y563F; 12:103943117-103943117

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1617C>A; p.Y539*; 12:103942769-103942769

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1175C>A; p.S392Y; 12:103941492-103941492

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1682A>G; p.K561R; 12:103943111-103943111

 thyroidcarcinomaSubstitution - Missense

c.2365G>A; p.E789K; 12:103947413-103947413

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2363A>G; p.E788G; 12:103947411-103947411

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1034G>T; p.R345I; 12:103939567-103939567

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1429G>T; p.D477Y; 12:103942581-103942581

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1103A>G; p.D368G; 12:103941420-103941420

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.550G>C; p.D184H; 12:103934094-103934094

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1422G>A; p.K474K; 12:103942574-103942574

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1507C>T; p.R503*; 12:103942659-103942659

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1722A>G; p.E574E; 12:103943151-103943151

 livercarcinomaSubstitution - coding silent

c.604G>A; p.A202T; 12:103934148-103934148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.859G>T; p.E287*; 12:103938343-103938343

 breastcarcinomaSubstitution - Nonsense

c.307G>T; p.E103*; 12:103932838-103932838

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.307G>T; p.E103*; 12:103932838-103932838

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.307G>T; p.E103*; 12:103932838-103932838

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.22G>C; p.G8R; 12:103930537-103930537

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1344C>T; p.R448R; 12:103941867-103941867

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2293G>A; p.E765K; 12:103947341-103947341

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.30C>T; p.C10C; 12:103930545-103930545

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.30C>T; p.C10C; 12:103930545-103930545

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2359_2361delGAT; p.D787delD; 12:103947407-103947409

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.1000G>A; p.E334K; 12:103939533-103939533

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1637G>C; p.R546T; 12:103942789-103942789

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2201C>T; p.A734V; 12:103946880-103946880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1898A>G; p.K633R; 12:103943745-103943745

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.822C>G; p.F274L; 12:103937773-103937773

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2380A>C; p.K794Q; 12:103947428-103947428

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.833C>T; p.P278L; 12:103937784-103937784

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2411A>C; p.*804S; 12:103947661-103947661

 large_intestinecarcinoma; adenocarcinomaNonstop extension

c.2002C>T; p.Q668*; 12:103943849-103943849

 skinmalignant_melanomaSubstitution - Nonsense

c.805delA; p.K270fs*6; 12:103937756-103937756

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2383-1G>A; p.?; 12:103947632-103947632

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

')