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

Basic Information

Gene ID

10048

Name

RANBP9

Synonymous

RAN binding protein 9;RANBP9;RAN binding protein 9

Definition

Ran Binding Protein in the Microtubule organizing center|novel centrosomal protein RanBPM|ran binding protein, centrosomal|ran-binding protein 9|ran-binding protein M

Position

6p23

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 0.06.

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.1339C>T; p.R447C; 6:13639749-13639749

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1339C>T; p.R447C; 6:13639749-13639749

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.638G>T; p.G213V; 6:13696830-13696830

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.888G>T; p.K296N; 6:13657125-13657125

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1028G>A; p.R343Q; 6:13644629-13644629

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.733C>T; p.P245S; 6:13658783-13658783

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1926T>A; p.T642T; 6:13632391-13632391

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1396C>T; p.R466*; 6:13639692-13639692

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.2028T>C; p.P676P; 6:13625684-13625684

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2074C>T; p.P692S; 6:13622478-13622478

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2063C>T; p.T688I; 6:13622489-13622489

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1643C>T; p.S548L; 6:13637838-13637838

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1643C>T; p.S548L; 6:13637838-13637838

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1047C>T; p.I349I; 6:13644610-13644610

 skinmalignant_melanomaSubstitution - coding silent

c.1070C>T; p.P357L; 6:13644587-13644587

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1973C>T; p.S658L; 6:13625739-13625739

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1075G>A; p.G359R; 6:13644582-13644582

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>A; p.G359R; 6:13644582-13644582

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1075G>A; p.G359R; 6:13644582-13644582

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.492G>T; p.P164P; 6:13711014-13711014

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1052C>T; p.A351V; 6:13644605-13644605

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1864C>G; p.H622D; 6:13632453-13632453

 lung; left_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.712G>C; p.G238R; 6:13658804-13658804

 breastcarcinomaSubstitution - Missense

c.474G>A; p.V158V; 6:13711032-13711032

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2152T>C; p.S718P; 6:13622400-13622400

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1198G>T; p.E400*; 6:13642506-13642506

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1198G>T; p.E400*; 6:13642506-13642506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1198G>T; p.E400*; 6:13642506-13642506

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2190G>C; p.*730Y; 6:13622362-13622362

 lungcarcinoma; adenocarcinomaNonstop extension

c.1592A>C; p.K531T; 6:13637889-13637889

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.845G>A; p.G282D; 6:13657168-13657168

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.720C>A; p.N240K; 6:13658796-13658796

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.566A>G; p.Y189C; 6:13710940-13710940

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1752C>T; p.S584S; 6:13634474-13634474

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.615G>A; p.T205T; 6:13696853-13696853

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.615G>A; p.T205T; 6:13696853-13696853

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1789G>A; p.E597K; 6:13634437-13634437

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1789G>A; p.E597K; 6:13634437-13634437

 stomachadenocarcinomaSubstitution - Missense

c.2048G>A; p.S683N; 6:13625664-13625664

 skinmalignant_melanomaSubstitution - Missense

c.2110G>A; p.A704T; 6:13622442-13622442

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1513G>A; p.A505T; 6:13639575-13639575

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1839T>C; p.S613S; 6:13632478-13632478

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2047A>G; p.S683G; 6:13625665-13625665

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2047A>G; p.S683G; 6:13625665-13625665

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1469A>G; p.H490R; 6:13639619-13639619

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2049T>C; p.S683S; 6:13625663-13625663

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2049T>C; p.S683S; 6:13625663-13625663

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.905-9delT; p.?; 6:13652690-13652690

 livercarcinomaUnknown

c.905-9delT; p.?; 6:13652690-13652690

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.2049T>C; p.S683S; 6:13625663-13625663

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1819C>T; p.R607C; 6:13632498-13632498

 breastcarcinomaSubstitution - Missense

c.1788C>T; p.T596T; 6:13634438-13634438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1195G>A; p.E399K; 6:13642509-13642509

 skinmalignant_melanomaSubstitution - Missense

c.2032T>C; p.C678R; 6:13625680-13625680

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.578G>A; p.G193D; 6:13696890-13696890

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1656A>G; p.Q552Q; 6:13637825-13637825

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2169A>G; p.T723T; 6:13622383-13622383

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.29C>A; p.P10Q; 6:13711477-13711477

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 skinmalignant_melanomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 skinmalignant_melanomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 central_nervous_system; braingliomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 NSmalignant_melanomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.29C>A; p.P10Q; 6:13711477-13711477

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1339C>G; p.R447G; 6:13639749-13639749

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.99C>A; p.V33V; 6:13711407-13711407

 pancreascarcinomaSubstitution - coding silent

c.997C>G; p.P333A; 6:13644660-13644660

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.997C>G; p.P333A; 6:13644660-13644660

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1189G>A; p.V397I; 6:13642515-13642515

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1845C>T; p.A615A; 6:13632472-13632472

 skinmalignant_melanomaSubstitution - coding silent

c.607C>T; p.R203*; 6:13696861-13696861

 skinmalignant_melanomaSubstitution - Nonsense

c.1919A>G; p.K640R; 6:13632398-13632398

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1026G>T; p.M342I; 6:13644631-13644631

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1063C>G; p.R355G; 6:13644594-13644594

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1813T>G; p.L605V; 6:13632504-13632504

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1099A>G; p.T367A; 6:13644558-13644558

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1886C>T; p.A629V; 6:13632431-13632431

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1730C>T; p.S577F; 6:13634496-13634496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1856G>A; p.R619K; 6:13632461-13632461

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.975C>T; p.V325V; 6:13644682-13644682

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.659A>C; p.K220T; 6:13696809-13696809

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1074C>T; p.I358I; 6:13644583-13644583

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1074C>T; p.I358I; 6:13644583-13644583

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.990G>A; p.G330G; 6:13644667-13644667

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1580G>A; p.C527Y; 6:13637901-13637901

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1987A>G; p.S663G; 6:13625725-13625725

 livercarcinomaSubstitution - Missense

c.542C>G; p.S181C; 6:13710964-13710964

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1246G>A; p.A416T; 6:13641287-13641287

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1166T>G; p.F389C; 6:13642538-13642538

 skinmalignant_melanomaSubstitution - Missense

c.880T>C; p.Y294H; 6:13657133-13657133

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.782C>T; p.S261L; 6:13657231-13657231

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.459T>C; p.R153R; 6:13711047-13711047

 thyroidother; neoplasmSubstitution - coding silent

c.459T>C; p.R153R; 6:13711047-13711047

 breastcarcinomaSubstitution - coding silent

c.459T>C; p.R153R; 6:13711047-13711047

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.611C>A; p.A204D; 6:13696857-13696857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.459T>C; p.R153R; 6:13711047-13711047

 thyroidother; neoplasmSubstitution - coding silent

c.459T>C; p.R153R; 6:13711047-13711047

 thyroidother; neoplasmSubstitution - coding silent

c.459T>C; p.R153R; 6:13711047-13711047

 thyroidother; neoplasmSubstitution - coding silent

c.2127A>G; p.G709G; 6:13622425-13622425

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2060-3C>T; p.?; 6:13622495-13622495

 pancreascarcinomaUnknown

c.1181A>G; p.D394G; 6:13642523-13642523

 livercarcinomaSubstitution - Missense

c.1873C>T; p.R625*; 6:13632444-13632444

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1307G>T; p.R436I; 6:13641226-13641226

 breastcarcinomaSubstitution - Missense

c.469G>A; p.A157T; 6:13711037-13711037

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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