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

Basic Information

Gene ID

8650

Name

NUMB

Synonymous

numb homolog (Drosophila);NUMB;numb homolog (Drosophila)

Definition

h-Numb|protein numb homolog

Position

14q24.3

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

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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 0.11.

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.1942G>C; p.E648Q; 14:73276592-73276592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1077A>G; p.P359P; 14:73282378-73282378

 skinmalignant_melanomaSubstitution - coding silent

c.20G>A; p.S7N; 14:73355732-73355732

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1745A>G; p.H582R; 14:73276789-73276789

 skinmalignant_melanomaSubstitution - Missense

c.410G>A; p.R137H; 14:73292774-73292774

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.235-5A>T; p.?; 14:73297290-73297290

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.235-5A>T; p.?; 14:73297290-73297290

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.918G>A; p.Q306Q; 14:73284112-73284112

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.586C>G; p.R196G; 14:73287179-73287179

 skinmalignant_melanomaSubstitution - Missense

c.1721C>T; p.P574L; 14:73276813-73276813

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1559C>A; p.P520Q; 14:73276975-73276975

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1402C>T; p.Q468*; 14:73277132-73277132

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1781A>T; p.D594V; 14:73276753-73276753

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1351G>A; p.V451I; 14:73277183-73277183

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.561C>A; p.T187T; 14:73287204-73287204

 breastcarcinomaSubstitution - coding silent

c.590T>C; p.V197A; 14:73287175-73287175

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.433A>G; p.M145V; 14:73292751-73292751

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1862C>T; p.A621V; 14:73276672-73276672

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1811C>T; p.T604I; 14:73276723-73276723

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1784G>A; p.G595D; 14:73276750-73276750

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.534G>A; p.V178V; 14:73287231-73287231

 skinmalignant_melanomaSubstitution - coding silent

c.98G>C; p.R33P; 14:73355654-73355654

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.354C>T; p.A118A; 14:73292830-73292830

 skinmalignant_melanomaSubstitution - coding silent

c.218A>G; p.K73R; 14:73316406-73316406

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1187C>T; p.P396L; 14:73279334-73279334

 skinmalignant_melanomaSubstitution - Missense

c.1284C>T; p.L428L; 14:73277250-73277250

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1732C>T; p.P578S; 14:73276802-73276802

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.772C>T; p.P258S; 14:73284258-73284258

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1917C>T; p.F639F; 14:73276617-73276617

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.443A>G; p.K148R; 14:73292741-73292741

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.190delA; p.R64fs*2; 14:73323141-73323141

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.889C>A; p.R297S; 14:73284141-73284141

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1943A>C; p.E648A; 14:73276591-73276591

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.310-2A>G; p.?; 14:73292876-73292876

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.919A>T; p.R307W; 14:73284111-73284111

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.630G>T; p.M210I; 14:73287135-73287135

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.1813G>A; p.E605K; 14:73276721-73276721

 breastcarcinomaSubstitution - Missense

c.842C>A; p.P281H; 14:73284188-73284188

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1857G>A; p.Q619Q; 14:73276677-73276677

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.140T>C; p.V47A; 14:73323191-73323191

 livercarcinomaSubstitution - Missense

c.601A>T; p.T201S; 14:73287164-73287164

 breastcarcinomaSubstitution - Missense

c.783C>T; p.I261I; 14:73284247-73284247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1810A>G; p.T604A; 14:73276724-73276724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1810A>G; p.T604A; 14:73276724-73276724

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1128T>C; p.L376L; 14:73279393-73279393

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.706G>A; p.A236T; 14:73284324-73284324

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1047G>A; p.P349P; 14:73282408-73282408

 pancreascarcinomaSubstitution - coding silent

c.1047G>A; p.P349P; 14:73282408-73282408

 breastcarcinomaSubstitution - coding silent

c.587G>C; p.R196P; 14:73287178-73287178

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.981C>G; p.I327M; 14:73282474-73282474

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.944delA; p.N315fs*6; 14:73284086-73284086

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1175G>A; p.R392H; 14:73279346-73279346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1889G>A; p.R630H; 14:73276645-73276645

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.649A>G; p.K217E; 14:73287116-73287116

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1825G>T; p.G609C; 14:73276709-73276709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.841C>T; p.P281S; 14:73284189-73284189

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1558C>T; p.P520S; 14:73276976-73276976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1805G>T; p.R602M; 14:73276729-73276729

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.88G>T; p.E30*; 14:73355664-73355664

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.243G>T; p.K81N; 14:73297277-73297277

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1159G>A; p.V387I; 14:73279362-73279362

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1457C>T; p.A486V; 14:73277077-73277077

 breastcarcinomaSubstitution - Missense

c.1554C>A; p.P518P; 14:73276980-73276980

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.202-1G>A; p.?; 14:73316423-73316423

 skinmalignant_melanomaUnknown

c.808C>G; p.Q270E; 14:73284222-73284222

 skinmalignant_melanomaSubstitution - Missense

c.229G>A; p.G77R; 14:73316395-73316395

 skinmalignant_melanomaSubstitution - Missense

c.595A>C; p.T199P; 14:73287170-73287170

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1938G>A; p.T646T; 14:73276596-73276596

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1938G>A; p.T646T; 14:73276596-73276596

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1174C>T; p.R392C; 14:73279347-73279347

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1174C>T; p.R392C; 14:73279347-73279347

 breastcarcinomaSubstitution - Missense

c.1812A>G; p.T604T; 14:73276722-73276722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1360C>T; p.Q454*; 14:73277174-73277174

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1778A>C; p.D593A; 14:73276756-73276756

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.857_859delAGA; p.K286delK; 14:73284171-73284173

 breastcarcinoma; basal_(triple-negative)_carcinomaDeletion - In frame

c.704C>T; p.T235I; 14:73284326-73284326

 skinmalignant_melanomaSubstitution - Missense

c.587G>A; p.R196H; 14:73287178-73287178

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.49C>G; p.P17A; 14:73355703-73355703

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.972_975delAGAG; p.E325fs*25; 14:73282480-73282483

 ovarycarcinomaDeletion - Frameshift

c.874C>T; p.R292C; 14:73284156-73284156

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1599G>A; p.Q533Q; 14:73276935-73276935

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.220G>T; p.G74C; 14:73316404-73316404

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1769A>G; p.N590S; 14:73276765-73276765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.477C>T; p.G159G; 14:73287288-73287288

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1353C>G; p.V451V; 14:73277181-73277181

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1876A>C; p.K626Q; 14:73276658-73276658

 breastcarcinomaSubstitution - Missense

c.154T>C; p.S52P; 14:73323177-73323177

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.102C>T; p.T34T; 14:73355650-73355650

 skinmalignant_melanomaSubstitution - coding silent

c.981C>T; p.I327I; 14:73282474-73282474

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.981C>T; p.I327I; 14:73282474-73282474

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.899A>G; p.E300G; 14:73284131-73284131

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 14:73355751-73355751

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.49C>T; p.P17S; 14:73355703-73355703

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.49C>T; p.P17S; 14:73355703-73355703

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1213A>G; p.N405D; 14:73279308-73279308

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98G>A; p.R33H; 14:73355654-73355654

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.98G>A; p.R33H; 14:73355654-73355654

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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