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

Basic Information

Gene ID

374654

Name

KIF7

Synonymous

kinesin family member 7;KIF7;kinesin family member 7

Definition

EQYK340|kinesin-like protein KIF7

Position

15q26.1

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.2346G>A; p.Q782Q; 15:89628566-89628566

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.269A>G; p.E90G; 15:89646007-89646007

 breastcarcinomaSubstitution - Missense

c.2446C>G; p.R816G; 15:89628466-89628466

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2446C>G; p.R816G; 15:89628466-89628466

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1523G>A; p.R508H; 15:89631544-89631544

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2446C>G; p.R816G; 15:89628466-89628466

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2446C>G; p.R816G; 15:89628466-89628466

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2446C>G; p.R816G; 15:89628466-89628466

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.125C>T; p.P42L; 15:89646954-89646954

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.521G>A; p.R174Q; 15:89645144-89645144

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.769G>A; p.E257K; 15:89642289-89642289

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.521G>A; p.R174Q; 15:89645144-89645144

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.934G>A; p.E312K; 15:89633805-89633805

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.871_873delAAG; p.K291delK; 15:89633866-89633868

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2405C>T; p.P802L; 15:89628507-89628507

 thyroidother; neoplasmSubstitution - Missense

c.2405C>T; p.P802L; 15:89628507-89628507

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1080G>A; p.Q360Q; 15:89633240-89633240

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1245G>A; p.A415A; 15:89632931-89632931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.76G>A; p.E26K; 15:89647003-89647003

 breastcarcinomaSubstitution - Missense

c.1295_1297delAGA; p.K433delK; 15:89632879-89632881

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaDeletion - In frame

c.101delG; p.G34fs*5; 15:89646978-89646978

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1742C>T; p.S581L; 15:89630324-89630324

 breastcarcinomaSubstitution - Missense

c.1260G>T; p.G420G; 15:89632916-89632916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.84G>A; p.V28V; 15:89646995-89646995

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2163G>A; p.Q721Q; 15:89628749-89628749

 skinmalignant_melanomaSubstitution - coding silent

c.1815G>C; p.Q605H; 15:89629538-89629538

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.811C>T; p.Q271*; 15:89642247-89642247

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.163delC; p.L55fs*31; 15:89646916-89646916

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2251G>A; p.E751K; 15:89628661-89628661

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2242A>C; p.T748P; 15:89628670-89628670

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.163delC; p.L55fs*31; 15:89646916-89646916

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1768T>C; p.Y590H; 15:89630298-89630298

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.531C>T; p.A177A; 15:89645134-89645134

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.806G>A; p.R269Q; 15:89642252-89642252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.805C>T; p.R269W; 15:89642253-89642253

 breastcarcinomaSubstitution - Missense

c.768C>T; p.L256L; 15:89642290-89642290

 skinmalignant_melanomaSubstitution - coding silent

c.1505A>G; p.D502G; 15:89631562-89631562

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1609G>A; p.E537K; 15:89630457-89630457

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.631A>T; p.I211F; 15:89645034-89645034

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.532C>T; p.R178C; 15:89645133-89645133

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.799C>A; p.R267R; 15:89642259-89642259

 livercarcinomaSubstitution - coding silent

c.215C>T; p.P72L; 15:89646864-89646864

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1679C>T; p.S560L; 15:89630387-89630387

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1885C>A; p.L629M; 15:89629468-89629468

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2221_2222insC; p.L741fs*3; 15:89628690-89628691

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1464G>C; p.Q488H; 15:89631603-89631603

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.567_568insG; p.L190fs*59; 15:89645097-89645098

 skinmalignant_melanomaInsertion - Frameshift

c.2454C>T; p.A818A; 15:89628458-89628458

 meningesmeningiomaSubstitution - coding silent

c.1516A>C; p.K506Q; 15:89631551-89631551

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.727C>T; p.R243W; 15:89642331-89642331

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.1119A>C; p.A373A; 15:89633201-89633201

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.161C>T; p.P54L; 15:89646918-89646918

 skinmalignant_melanomaSubstitution - Missense

c.201G>A; p.P67P; 15:89646878-89646878

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.881C>T; p.T294M; 15:89633858-89633858

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.170delG; p.G57fs*29; 15:89646909-89646909

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.170delG; p.G57fs*29; 15:89646909-89646909

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - Frameshift

c.333G>A; p.E111E; 15:89645943-89645943

 skinmalignant_melanomaSubstitution - coding silent

c.1086G>T; p.K362N; 15:89633234-89633234

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1244C>T; p.A415V; 15:89632932-89632932

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.904G>A; p.A302T; 15:89633835-89633835

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3G>C; p.M1I; 15:89647614-89647614

 skinmalignant_melanomaSubstitution - Missense

c.1422G>A; p.E474E; 15:89631645-89631645

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2125+1delG; p.?; 15:89628975-89628975

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1150G>A; p.G384S; 15:89633170-89633170

 central_nervous_system; braingliomaSubstitution - Missense

c.962A>G; p.Q321R; 15:89633777-89633777

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1911C>A; p.D637E; 15:89629442-89629442

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.292G>A; p.E98K; 15:89645984-89645984

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1669C>T; p.L557F; 15:89630397-89630397

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1501_1503delAAG; p.K501delK; 15:89631564-89631566

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1828G>A; p.E610K; 15:89629525-89629525

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.312T>C; p.S104S; 15:89645964-89645964

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1611G>A; p.E537E; 15:89630455-89630455

 livercarcinomaSubstitution - coding silent

c.1611G>A; p.E537E; 15:89630455-89630455

 livercarcinomaSubstitution - coding silent

c.69G>A; p.L23L; 15:89647010-89647010

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2347C>T; p.R783W; 15:89628565-89628565

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.895T>C; p.S299P; 15:89633844-89633844

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2239delC; p.R747fs*16; 15:89628673-89628673

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2239delC; p.R747fs*16; 15:89628673-89628673

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2239delC; p.R747fs*16; 15:89628673-89628673

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.423C>T; p.R141R; 15:89645412-89645412

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.883G>A; p.E295K; 15:89633856-89633856

 breastcarcinomaSubstitution - Missense

c.2276C>T; p.P759L; 15:89628636-89628636

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.66G>T; p.R22R; 15:89647013-89647013

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1322C>T; p.T441M; 15:89632854-89632854

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1793G>A; p.R598Q; 15:89629560-89629560

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1113C>T; p.I371I; 15:89633207-89633207

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1793G>A; p.R598Q; 15:89629560-89629560

 bone; sternumchondrosarcomaSubstitution - Missense

c.2331C>T; p.P777P; 15:89628581-89628581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1021G>A; p.A341T; 15:89633718-89633718

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2097C>T; p.G699G; 15:89629004-89629004

 kidneyother; neoplasmSubstitution - coding silent

c.1428C>T; p.S476S; 15:89631639-89631639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.106C>T; p.R36W; 15:89646973-89646973

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.106C>T; p.R36W; 15:89646973-89646973

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2097C>T; p.G699G; 15:89629004-89629004

 ovaryother; neoplasmSubstitution - coding silent

c.982C>T; p.R328W; 15:89633757-89633757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.982C>T; p.R328W; 15:89633757-89633757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1500_1502delGAA; p.K501delK; 15:89631565-89631567

 central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtypeDeletion - In frame

c.1500_1502delGAA; p.K501delK; 15:89631565-89631567

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaDeletion - In frame

c.1207G>T; p.D403Y; 15:89632969-89632969

 ovaryother; neoplasmSubstitution - Missense

c.1207G>T; p.D403Y; 15:89632969-89632969

 ovaryother; neoplasmSubstitution - Missense

c.1207G>T; p.D403Y; 15:89632969-89632969

 ovaryother; neoplasmSubstitution - Missense

c.2449C>T; p.R817*; 15:89628463-89628463

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1207G>T; p.D403Y; 15:89632969-89632969

 ovaryother; neoplasmSubstitution - Missense

c.1751G>T; p.R584I; 15:89630315-89630315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1037G>A; p.R346Q; 15:89633702-89633702

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.566G>A; p.R189Q; 15:89645099-89645099

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.681G>A; p.Q227Q; 15:89642377-89642377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.235G>C; p.E79Q; 15:89646844-89646844

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.920G>A; p.R307Q; 15:89633819-89633819

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.942C>T; p.N314N; 15:89633797-89633797

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1046G>A; p.R349H; 15:89633693-89633693

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1509G>A; p.S503S; 15:89631558-89631558

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1375G>A; p.V459M; 15:89631692-89631692

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.568_569delCT; p.L190fs*58; 15:89645096-89645097

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.162C>T; p.P54P; 15:89646917-89646917

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.568_569delCT; p.L190fs*58; 15:89645096-89645097

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.568_569delCT; p.L190fs*58; 15:89645096-89645097

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.416G>A; p.G139E; 15:89645419-89645419

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.647G>A; p.R216H; 15:89645018-89645018

 ovaryother; neoplasmSubstitution - Missense

c.647G>A; p.R216H; 15:89645018-89645018

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2367G>A; p.L789L; 15:89628545-89628545

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1492C>T; p.R498C; 15:89631575-89631575

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2052G>A; p.L684L; 15:89629049-89629049

 skinmalignant_melanomaSubstitution - coding silent

c.1149C>G; p.N383K; 15:89633171-89633171

 skinmalignant_melanomaSubstitution - Missense

c.1512G>T; p.L504L; 15:89631555-89631555

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.882G>A; p.T294T; 15:89633857-89633857

 skinmalignant_melanomaSubstitution - coding silent

c.882G>A; p.T294T; 15:89633857-89633857

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.260A>G; p.N87S; 15:89646016-89646016

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955C>T; p.R319W; 15:89633784-89633784

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.364C>T; p.R122W; 15:89645912-89645912

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.364C>T; p.R122W; 15:89645912-89645912

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.364C>T; p.R122W; 15:89645912-89645912

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2477G>A; p.R826Q; 15:89628435-89628435

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1880T>G; p.V627G; 15:89629473-89629473

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2125+7C>G; p.?; 15:89628969-89628969

 livercarcinomaUnknown

c.2125+7C>G; p.?; 15:89628969-89628969

 livercarcinomaUnknown

c.412G>C; p.A138P; 15:89645423-89645423

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.142_143CC>AA; p.P48N; 15:89646936-89646937

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1115C>T; p.A372V; 15:89633205-89633205

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1335C>G; p.S445R; 15:89632841-89632841

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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