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

Basic Information

Gene ID

10817

Name

FRS3

Synonymous

fibroblast growth factor receptor substrate 3;FRS3;fibroblast growth factor receptor substrate 3

Definition

FGFR substrate 3|FGFR-signaling adaptor SNT2|suc1-associated neurotrophic factor target 2 (FGFR signalling adaptor)

Position

6p21.1

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

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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 0.07.

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.1451G>C; p.R484P; 6:41770647-41770647

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.634delC; p.L212fs*29; 6:41771464-41771464

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.278G>A; p.R93Q; 6:41772935-41772935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278G>A; p.R93Q; 6:41772935-41772935

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.278G>A; p.R93Q; 6:41772935-41772935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1349G>A; p.R450Q; 6:41770749-41770749

 breastcarcinomaSubstitution - Missense

c.40C>T; p.P14S; 6:41776948-41776948

 skinmalignant_melanomaSubstitution - Missense

c.656T>G; p.F219C; 6:41771442-41771442

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1285C>T; p.R429C; 6:41770813-41770813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.390C>T; p.L130L; 6:41772823-41772823

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1142G>A; p.R381H; 6:41770956-41770956

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.809A>G; p.N270S; 6:41771289-41771289

 livercarcinomaSubstitution - Missense

c.809A>G; p.N270S; 6:41771289-41771289

 livercarcinomaSubstitution - Missense

c.1212_1213CC>TT; p.R405C; 6:41770885-41770886

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1099G>A; p.E367K; 6:41770999-41770999

 breastcarcinomaSubstitution - Missense

c.920C>T; p.P307L; 6:41771178-41771178

 livercarcinomaSubstitution - Missense

c.920C>T; p.P307L; 6:41771178-41771178

 livercarcinomaSubstitution - Missense

c.161C>T; p.A54V; 6:41775511-41775511

 skinmalignant_melanomaSubstitution - Missense

c.752G>A; p.R251Q; 6:41771346-41771346

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1286G>A; p.R429H; 6:41770812-41770812

 breastcarcinomaSubstitution - Missense

c.830C>G; p.S277C; 6:41771268-41771268

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.374C>T; p.P125L; 6:41772839-41772839

 skinmalignant_melanomaSubstitution - Missense

c.142C>T; p.H48Y; 6:41775530-41775530

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.862G>A; p.E288K; 6:41771236-41771236

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.180C>A; p.L60L; 6:41775492-41775492

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.163G>A; p.V55I; 6:41775509-41775509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.207C>T; p.S69S; 6:41775465-41775465

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.172C>G; p.P58A; 6:41775500-41775500

 salivary_gland; parotidcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.1098C>T; p.D366D; 6:41771000-41771000

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1389C>T; p.T463T; 6:41770709-41770709

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1105C>T; p.P369S; 6:41770993-41770993

 skinmalignant_melanomaSubstitution - Missense

c.1030G>A; p.G344R; 6:41771068-41771068

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.361C>T; p.R121C; 6:41772852-41772852

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.361C>T; p.R121C; 6:41772852-41772852

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.746C>T; p.A249V; 6:41771352-41771352

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1117C>T; p.P373S; 6:41770981-41770981

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1117C>T; p.P373S; 6:41770981-41770981

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.690C>T; p.D230D; 6:41771408-41771408

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.443C>T; p.S148F; 6:41771937-41771937

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1403A>G; p.N468S; 6:41770695-41770695

 thyroidcarcinomaSubstitution - Missense

c.614_615insC; p.R206fs*9; 6:41771483-41771484

 breastcarcinomaInsertion - Frameshift

c.155G>T; p.R52L; 6:41775517-41775517

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.751C>T; p.R251W; 6:41771347-41771347

 kidneyother; neoplasmSubstitution - Missense

c.771G>T; p.Q257H; 6:41771327-41771327

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.943C>T; p.R315C; 6:41771155-41771155

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824C>T; p.A275V; 6:41771274-41771274

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.67-2A>G; p.?; 6:41775607-41775607

 large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.162C>T; p.A54A; 6:41775510-41775510

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.712G>T; p.G238C; 6:41771386-41771386

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.55A>C; p.T19P; 6:41776933-41776933

 breastcarcinomaSubstitution - Missense

c.1302G>T; p.Q434H; 6:41770796-41770796

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.361C>A; p.R121S; 6:41772852-41772852

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1280G>C; p.G427A; 6:41770818-41770818

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.152G>A; p.R51Q; 6:41775520-41775520

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.57C>A; p.T19T; 6:41776931-41776931

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1213C>T; p.R405C; 6:41770885-41770885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1307C>T; p.P436L; 6:41770791-41770791

 skinmalignant_melanomaSubstitution - Missense

c.1213C>T; p.R405C; 6:41770885-41770885

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1467C>T; p.D489D; 6:41770631-41770631

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.921G>A; p.P307P; 6:41771177-41771177

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1368C>T; p.A456A; 6:41770730-41770730

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.187C>T; p.R63W; 6:41775485-41775485

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406Q; 6:41770881-41770881

 livercarcinomaSubstitution - Missense

c.344A>T; p.E115V; 6:41772869-41772869

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.254G>C; p.G85A; 6:41772959-41772959

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1429G>T; p.D477Y; 6:41770669-41770669

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.548T>G; p.I183S; 6:41771832-41771832

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1436C>T; p.T479I; 6:41770662-41770662

 livercarcinomaSubstitution - Missense

c.606C>A; p.H202Q; 6:41771492-41771492

 breastcarcinomaSubstitution - Missense

c.915G>A; p.E305E; 6:41771183-41771183

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.841G>A; p.A281T; 6:41771257-41771257

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.861C>T; p.Y287Y; 6:41771237-41771237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1437C>T; p.T479T; 6:41770661-41770661

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1394C>T; p.A465V; 6:41770704-41770704

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.41C>T; p.P14L; 6:41776947-41776947

 skinmalignant_melanomaSubstitution - Missense

c.191G>A; p.R64H; 6:41775481-41775481

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.361C>G; p.R121G; 6:41772852-41772852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1003C>T; p.Q335*; 6:41771095-41771095

 central_nervous_system; braingliomaSubstitution - Nonsense

c.1234C>T; p.P412S; 6:41770864-41770864

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1110G>T; p.L370L; 6:41770988-41770988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.469C>T; p.R157*; 6:41771911-41771911

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.375C>T; p.P125P; 6:41772838-41772838

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.666G>T; p.Q222H; 6:41771432-41771432

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1364A>G; p.Y455C; 6:41770734-41770734

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.375C>T; p.P125P; 6:41772838-41772838

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.151C>T; p.R51W; 6:41775521-41775521

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.738G>A; p.P246P; 6:41771360-41771360

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.403delC; p.Q135fs*6; 6:41772810-41772810

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.312G>T; p.L104L; 6:41772901-41772901

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1184G>A; p.G395D; 6:41770914-41770914

 prostatecarcinomaSubstitution - Missense

c.1055G>T; p.G352V; 6:41771043-41771043

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.639T>C; p.P213P; 6:41771459-41771459

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.277C>T; p.R93W; 6:41772936-41772936

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1432_1433GG>TT; p.G478>?; 6:41770665-41770666

 lungcarcinoma; adenocarcinomaComplex

c.1222G>T; p.G408W; 6:41770876-41770876

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.178C>T; p.L60F; 6:41775494-41775494

 skinmalignant_melanomaSubstitution - Missense

c.178C>T; p.L60F; 6:41775494-41775494

 skinmalignant_melanomaSubstitution - Missense

c.885G>A; p.W295*; 6:41771213-41771213

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1064C>T; p.P355L; 6:41771034-41771034

 skinmalignant_melanomaSubstitution - Missense

c.1183G>A; p.G395S; 6:41770915-41770915

 skinmalignant_melanomaSubstitution - Missense

c.670C>T; p.R224W; 6:41771428-41771428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1133C>T; p.A378V; 6:41770965-41770965

 skinmalignant_melanomaSubstitution - Missense

c.301C>T; p.L101F; 6:41772912-41772912

 skinmalignant_melanomaSubstitution - Missense

c.464G>A; p.G155D; 6:41771916-41771916

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.640G>C; p.E214Q; 6:41771458-41771458

 breastcarcinomaSubstitution - Missense

c.774C>T; p.G258G; 6:41771324-41771324

 skinmalignant_melanomaSubstitution - coding silent

c.1320A>C; p.Q440H; 6:41770778-41770778

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1232C>A; p.P411H; 6:41770866-41770866

 urinary_tract; bladdercarcinomaSubstitution - Missense

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