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

Basic Information

Gene ID

6405

Name

SEMA3F

Synonymous

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F;SEMA3F;sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

Definition

sema III/F|sema IV|sema domain, immunoglobulin domain (Ig), short basic domain, secreted, 3F|semaphorin III/F|semaphorin IV|semaphorin-3F

Position

3p21.3

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 0.11.

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.959C>T; p.A320V; 3:50182959-50182959

 skinmalignant_melanomaSubstitution - Missense

c.2231A>T; p.Q744L; 3:50187988-50187988

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1828G>A; p.V610M; 3:50186627-50186627

 central_nervous_system; braingliomaSubstitution - Missense

c.959C>T; p.A320V; 3:50182959-50182959

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.262G>A; p.E88K; 3:50173942-50173942

 skinmalignant_melanomaSubstitution - Missense

c.2144C>T; p.P715L; 3:50187901-50187901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1715C>T; p.A572V; 3:50186016-50186016

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1796G>A; p.R599H; 3:50186331-50186331

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1796G>A; p.R599H; 3:50186331-50186331

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1796G>A; p.R599H; 3:50186331-50186331

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1226C>T; p.P409L; 3:50183557-50183557

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.314T>C; p.V105A; 3:50174092-50174092

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1259C>A; p.S420Y; 3:50184617-50184617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1109C>T; p.A370V; 3:50183440-50183440

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1092C>G; p.S364S; 3:50183423-50183423

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1768C>T; p.R590W; 3:50186303-50186303

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.380G>A; p.R127Q; 3:50174274-50174274

 skinmalignant_melanomaSubstitution - Missense

c.2269C>T; p.P757S; 3:50188026-50188026

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1009G>C; p.D337H; 3:50183009-50183009

 oesophaguscarcinomaSubstitution - Missense

c.967G>A; p.V323I; 3:50182967-50182967

 large_intestine; caecumadenomaSubstitution - Missense

c.1461C>T; p.R487R; 3:50185447-50185447

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.523C>T; p.R175C; 3:50175162-50175162

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2335C>T; p.R779W; 3:50188092-50188092

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.304G>A; p.E102K; 3:50174082-50174082

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1306C>T; p.R436C; 3:50184664-50184664

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1223G>A; p.R408Q; 3:50183554-50183554

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2176C>T; p.P726S; 3:50187933-50187933

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.401G>T; p.G134V; 3:50174295-50174295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.702C>T; p.F234F; 3:50182342-50182342

 skinmalignant_melanomaSubstitution - coding silent

c.610G>A; p.D204N; 3:50176828-50176828

 skinmalignant_melanomaSubstitution - Missense

c.2144C>A; p.P715Q; 3:50187901-50187901

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.577C>T; p.R193*; 3:50176795-50176795

 stomachadenocarcinomaSubstitution - Nonsense

c.2018G>A; p.R673H; 3:50187775-50187775

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.962G>A; p.R321Q; 3:50182962-50182962

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.703C>T; p.R235C; 3:50182343-50182343

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.641T>C; p.I214T; 3:50176859-50176859

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.136C>G; p.H46D; 3:50173816-50173816

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1190G>A; p.W397*; 3:50183521-50183521

 skinmalignant_melanomaSubstitution - Nonsense

c.1650G>A; p.A550A; 3:50185951-50185951

 stomachadenocarcinomaSubstitution - coding silent

c.981G>A; p.P327P; 3:50182981-50182981

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.914G>A; p.G305D; 3:50182914-50182914

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.306G>A; p.E102E; 3:50174084-50174084

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2342A>C; p.H781P; 3:50188099-50188099

 kidneyWilms_tumourSubstitution - Missense

c.177C>T; p.I59I; 3:50173857-50173857

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.177C>T; p.I59I; 3:50173857-50173857

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1132G>C; p.D378H; 3:50183463-50183463

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1507T>A; p.L503M; 3:50185493-50185493

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1973G>A; p.R658H; 3:50187730-50187730

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1507T>A; p.L503M; 3:50185493-50185493

 thyroidother; neoplasmSubstitution - Missense

c.198_203delCGACCG; p.D67_R68delDR; 3:50173878-50173883

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1886G>A; p.R629H; 3:50186685-50186685

 pancreascarcinomaSubstitution - Missense

c.10G>T; p.A4S; 3:50159632-50159632

 livercarcinomaSubstitution - Missense

c.80C>A; p.P27Q; 3:50159702-50159702

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.348G>A; p.G116G; 3:50174242-50174242

 skinmalignant_melanomaSubstitution - coding silent

c.261C>T; p.R87R; 3:50173941-50173941

 breastcarcinomaSubstitution - coding silent

c.261C>T; p.R87R; 3:50173941-50173941

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1869C>T; p.F623F; 3:50186668-50186668

 skinmalignant_melanomaSubstitution - coding silent

c.198C>T; p.H66H; 3:50173878-50173878

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1233G>A; p.T411T; 3:50183564-50183564

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1233G>A; p.T411T; 3:50183564-50183564

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1233G>A; p.T411T; 3:50183564-50183564

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.646G>A; p.E216K; 3:50182286-50182286

 skinmalignant_melanomaSubstitution - Missense

c.1047C>T; p.D349D; 3:50183214-50183214

 skinmalignant_melanomaSubstitution - coding silent

c.255C>T; p.I85I; 3:50173935-50173935

 skinmalignant_melanomaSubstitution - coding silent

c.449G>A; p.R150H; 3:50174343-50174343

 prostatecarcinomaSubstitution - Missense

c.834C>T; p.F278F; 3:50182714-50182714

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2102C>T; p.A701V; 3:50187859-50187859

 skinmalignant_melanomaSubstitution - Missense

c.1197C>T; p.P399P; 3:50183528-50183528

 skinmalignant_melanomaSubstitution - coding silent

c.2017C>T; p.R673C; 3:50187774-50187774

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2157C>T; p.G719G; 3:50187914-50187914

 central_nervous_system; braingliomaSubstitution - coding silent

c.583G>A; p.E195K; 3:50176801-50176801

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.425G>T; p.C142F; 3:50174319-50174319

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1093G>A; p.V365M; 3:50183424-50183424

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2069C>G; p.T690R; 3:50187826-50187826

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.96C>T; p.V32V; 3:50159718-50159718

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.803C>T; p.A268V; 3:50182683-50182683

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.803C>T; p.A268V; 3:50182683-50182683

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.907G>A; p.D303N; 3:50182907-50182907

 skinmalignant_melanomaSubstitution - Missense

c.907G>A; p.D303N; 3:50182907-50182907

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1139G>A; p.R380H; 3:50183470-50183470

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.689A>G; p.D230G; 3:50182329-50182329

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1799G>A; p.G600E; 3:50186334-50186334

 skinmalignant_melanomaSubstitution - Missense

c.46G>T; p.A16S; 3:50159668-50159668

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1683C>A; p.A561A; 3:50185984-50185984

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1367G>A; p.R456H; 3:50184725-50184725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1815C>T; p.A605A; 3:50186614-50186614

 skinmalignant_melanomaSubstitution - coding silent

c.2013C>T; p.S671S; 3:50187770-50187770

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.42C>T; p.T14T; 3:50159664-50159664

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.228C>T; p.Y76Y; 3:50173908-50173908

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2031C>A; p.S677S; 3:50187788-50187788

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.2143C>T; p.P715S; 3:50187900-50187900

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1356_1357CC>TT; p.(=); 3:50184714-50184715

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1038G>A; p.Q346Q; 3:50183205-50183205

 skinmalignant_melanomaSubstitution - coding silent

c.1814-1G>C; p.?; 3:50186612-50186612

 breastcarcinomaUnknown

c.1831G>A; p.E611K; 3:50186630-50186630

 skinmalignant_melanomaSubstitution - Missense

c.42C>G; p.T14T; 3:50159664-50159664

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.687T>C; p.T229T; 3:50182327-50182327

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.809G>A; p.R270H; 3:50182689-50182689

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1366C>T; p.R456C; 3:50184724-50184724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1449G>T; p.L483L; 3:50184807-50184807

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.828_830delCTT; p.F279delF; 3:50182708-50182710

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1512G>A; p.E504E; 3:50185498-50185498

 skinmalignant_melanomaSubstitution - coding silent

c.582C>T; p.L194L; 3:50176800-50176800

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1555delC; p.V520fs*4; 3:50185675-50185675

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.1138C>T; p.R380C; 3:50183469-50183469

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.451G>A; p.A151T; 3:50174345-50174345

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.307G>T; p.E103*; 3:50174085-50174085

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1068C>T; p.Y356Y; 3:50183235-50183235

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.784G>A; p.E262K; 3:50182664-50182664

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1943G>A; p.R648Q; 3:50186742-50186742

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.597C>A; p.G199G; 3:50176815-50176815

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1429C>T; p.R477C; 3:50184787-50184787

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1894C>A; p.Q632K; 3:50186693-50186693

 breastcarcinomaSubstitution - Missense

c.1429C>T; p.R477C; 3:50184787-50184787

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1620C>T; p.V540V; 3:50185921-50185921

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1694A>G; p.Y565C; 3:50185995-50185995

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2242G>A; p.G748S; 3:50187999-50187999

 skinmalignant_melanomaSubstitution - Missense

c.273T>C; p.I91I; 3:50173953-50173953

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2121C>T; p.F707F; 3:50187878-50187878

 skinmalignant_melanomaSubstitution - coding silent

c.203G>A; p.R68H; 3:50173883-50173883

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1937G>A; p.R646Q; 3:50186736-50186736

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.734C>T; p.T245M; 3:50182374-50182374

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1531G>A; p.V511M; 3:50185517-50185517

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.141C>A; p.F47L; 3:50173821-50173821

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1100G>A; p.R367Q; 3:50183431-50183431

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1769G>A; p.R590Q; 3:50186304-50186304

 skinmalignant_melanomaSubstitution - Missense

c.642C>T; p.I214I; 3:50176860-50176860

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.888_889CG>TC; p.I296>?; 3:50182768-50182769

 lungcarcinoma; adenocarcinomaComplex

c.2158G>A; p.A720T; 3:50187915-50187915

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2062G>A; p.V688I; 3:50187819-50187819

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.229G>A; p.V77M; 3:50173909-50173909

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1435G>A; p.E479K; 3:50184793-50184793

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.765C>G; p.D255E; 3:50182645-50182645

 skin; trunkmalignant_melanomaSubstitution - Missense

c.2167C>T; p.P723S; 3:50187924-50187924

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2071C>T; p.R691*; 3:50187828-50187828

 breastcarcinomaSubstitution - Nonsense

c.354C>T; p.F118F; 3:50174248-50174248

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1722C>T; p.S574S; 3:50186023-50186023

 skin; upper_legmalignant_melanomaSubstitution - coding silent

c.354C>T; p.F118F; 3:50174248-50174248

 skinmalignant_melanomaSubstitution - coding silent

c.1405G>A; p.D469N; 3:50184763-50184763

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.977T>C; p.V326A; 3:50182977-50182977

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1420G>A; p.A474T; 3:50184778-50184778

 skinmalignant_melanomaSubstitution - Missense

c.954G>A; p.L318L; 3:50182954-50182954

 breastcarcinomaSubstitution - coding silent

c.633G>A; p.S211S; 3:50176851-50176851

 pancreascarcinomaSubstitution - coding silent

c.825T>G; p.L275L; 3:50182705-50182705

 skinmalignant_melanomaSubstitution - coding silent

c.1649C>T; p.A550V; 3:50185950-50185950

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.G305S; 3:50182913-50182913

 skinmalignant_melanomaSubstitution - Missense

c.913G>A; p.G305S; 3:50182913-50182913

 skinmalignant_melanomaSubstitution - Missense

c.793C>T; p.P265S; 3:50182673-50182673

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.565C>T; p.L189L; 3:50176783-50176783

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.565C>T; p.L189L; 3:50176783-50176783

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.565C>T; p.L189L; 3:50176783-50176783

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1333G>A; p.V445M; 3:50184691-50184691

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1462G>T; p.G488W; 3:50185448-50185448

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.82G>A; p.A28T; 3:50159704-50159704

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1088G>A; p.G363D; 3:50183255-50183255

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.61C>T; p.P21S; 3:50159683-50159683

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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