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

Basic Information

Gene ID

2444

Name

FRK

Synonymous

fyn-related Src family tyrosine kinase;FRK;fyn-related Src family tyrosine kinase

Definition

PTK5 protein tyrosine kinase 5|fyn-related kinase|nuclear tyrosine protein kinase RAK|protein-tyrosine kinase 5|tyrosine-protein kinase FRK

Position

6q21-q22.3

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 0.14.

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.492C>T; p.H164H; 6:115968714-115968714

 skinmalignant_melanomaSubstitution - coding silent

c.722G>A; p.G241E; 6:115967628-115967628

 skinmalignant_melanomaSubstitution - Missense

c.562G>A; p.E188K; 6:115968644-115968644

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.528_529insT; p.L177fs*22; 6:115968677-115968678

 lungcarcinoma; adenocarcinomaInsertion - Frameshift

c.1436C>T; p.T479I; 6:115942496-115942496

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.968G>T; p.G323V; 6:115944416-115944416

 parathyroidcarcinomaSubstitution - Missense

c.1436C>T; p.T479I; 6:115942496-115942496

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1437A>G; p.T479T; 6:115942495-115942495

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.536G>A; p.R179Q; 6:115968670-115968670

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.536G>A; p.R179Q; 6:115968670-115968670

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.305C>A; p.S102Y; 6:116060007-116060007

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.198T>C; p.G66G; 6:116060114-116060114

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1201G>A; p.A401T; 6:115943125-115943125

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1132_1137delGTTTTT; p.V378_F379delVF; 6:115944247-115944252

 livercarcinoma; hepatocellular_carcinomaDeletion - In frame

c.433A>G; p.S145G; 6:116003910-116003910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.433A>G; p.S145G; 6:116003910-116003910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.433A>G; p.S145G; 6:116003910-116003910

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1396delA; p.M466fs*39; 6:115942536-115942536

 livercarcinomaDeletion - Frameshift

c.842T>C; p.M281T; 6:115956568-115956568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.668C>T; p.T223I; 6:115967682-115967682

 skinmalignant_melanomaSubstitution - Missense

c.668C>T; p.T223I; 6:115967682-115967682

 skinmalignant_melanomaSubstitution - Missense

c.1452T>C; p.R484R; 6:115942480-115942480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.728G>T; p.G243V; 6:115967622-115967622

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.668C>T; p.T223I; 6:115967682-115967682

 skinmalignant_melanomaSubstitution - Missense

c.1242C>T; p.S414S; 6:115943084-115943084

 skinmalignant_melanomaSubstitution - coding silent

c.1452T>C; p.R484R; 6:115942480-115942480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1207G>A; p.E403K; 6:115943119-115943119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.299T>C; p.I100T; 6:116060013-116060013

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1305T>G; p.S435R; 6:115943021-115943021

 skinmalignant_melanomaSubstitution - Missense

c.1451G>A; p.R484H; 6:115942481-115942481

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.191G>C; p.R64P; 6:116060121-116060121

 breastcarcinomaSubstitution - Missense

c.1421C>T; p.P474L; 6:115942511-115942511

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.959-5delCTTA; p.?; 6:115944427-115944430

 lungcarcinoma; adenocarcinomaUnknown

c.1217G>A; p.R406H; 6:115943109-115943109

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1217G>A; p.R406H; 6:115943109-115943109

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1358C>T; p.P453L; 6:115942574-115942574

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1358C>T; p.P453L; 6:115942574-115942574

 stomachadenocarcinomaSubstitution - Missense

c.807G>T; p.M269I; 6:115956603-115956603

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.682G>A; p.E228K; 6:115967668-115967668

 skinmalignant_melanomaSubstitution - Missense

c.1408T>C; p.W470R; 6:115942524-115942524

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.870C>T; p.I290I; 6:115956540-115956540

 skinmalignant_melanomaSubstitution - coding silent

c.1076A>T; p.N359I; 6:115944308-115944308

 livercarcinomaSubstitution - Missense

c.1076A>T; p.N359I; 6:115944308-115944308

 livercarcinomaSubstitution - Missense

c.1076A>T; p.N359I; 6:115944308-115944308

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.43T>C; p.Y15H; 6:116060269-116060269

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.666A>T; p.K222N; 6:115967684-115967684

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1298C>A; p.P433H; 6:115943028-115943028

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1228T>G; p.F410V; 6:115943098-115943098

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1169G>T; p.R390I; 6:115943157-115943157

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1331A>T; p.Q444L; 6:115942601-115942601

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1331A>T; p.Q444L; 6:115942601-115942601

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1306G>A; p.G436S; 6:115943020-115943020

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.356G>C; p.G119A; 6:116003987-116003987

 pancreascarcinoma; adenocarcinomaSubstitution - Missense

c.534G>A; p.T178T; 6:115968672-115968672

 prostateadenomaSubstitution - coding silent

c.361A>G; p.I121V; 6:116003982-116003982

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1216C>T; p.R406C; 6:115943110-115943110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1231A>T; p.S411C; 6:115943095-115943095

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.56delT; p.L19fs*10; 6:116060256-116060256

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1218T>C; p.R406R; 6:115943108-115943108

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.131G>A; p.G44D; 6:116060181-116060181

 central_nervous_system; braingliomaSubstitution - Missense

c.1450C>T; p.R484C; 6:115942482-115942482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.381G>T; p.E127D; 6:116003962-116003962

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1450C>T; p.R484C; 6:115942482-115942482

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.551C>A; p.S184*; 6:115968655-115968655

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.691C>T; p.R231C; 6:115967659-115967659

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.227A>C; p.H76P; 6:116060085-116060085

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1004C>T; p.A335V; 6:115944380-115944380

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1004C>T; p.A335V; 6:115944380-115944380

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1004C>T; p.A335V; 6:115944380-115944380

 central_nervous_system; braingliomaSubstitution - Missense

c.579C>T; p.Y193Y; 6:115968627-115968627

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.434G>A; p.S145N; 6:116003909-116003909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1241C>T; p.S414F; 6:115943085-115943085

 NSmalignant_melanomaSubstitution - Missense

c.435T>C; p.S145S; 6:116003908-116003908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.435T>A; p.S145R; 6:116003908-116003908

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1451G>T; p.R484L; 6:115942481-115942481

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.774A>C; p.P258P; 6:115967576-115967576

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.581C>A; p.T194N; 6:115968625-115968625

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.797C>A; p.P266Q; 6:115967553-115967553

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1225A>G; p.K409E; 6:115943101-115943101

 skinmalignant_melanomaSubstitution - Missense

c.87T>C; p.I29I; 6:116060225-116060225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.363C>A; p.I121I; 6:116003980-116003980

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.794A>G; p.K265R; 6:115967556-115967556

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.639C>T; p.V213V; 6:115967711-115967711

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1247T>C; p.V416A; 6:115943079-115943079

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.542G>T; p.R181I; 6:115968664-115968664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1158C>T; p.I386I; 6:115943168-115943168

 breastcarcinomaSubstitution - coding silent

c.198T>G; p.G66G; 6:116060114-116060114

 breastcarcinomaSubstitution - coding silent

c.439A>C; p.S147R; 6:116003904-116003904

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.531C>T; p.L177L; 6:115968675-115968675

 breastcarcinomaSubstitution - coding silent

c.364G>A; p.G122R; 6:116003979-116003979

 skinmalignant_melanomaSubstitution - Missense

c.294C>T; p.G98G; 6:116060018-116060018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.277A>G; p.S93G; 6:116060035-116060035

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1057A>G; p.R353G; 6:115944327-115944327

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.11T>C; p.I4T; 6:116060301-116060301

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.726T>A; p.S242S; 6:115967624-115967624

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.578A>G; p.Y193C; 6:115968628-115968628

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1174G>A; p.E392K; 6:115943152-115943152

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1257T>C; p.F419F; 6:115943069-115943069

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.823C>T; p.L275L; 6:115956587-115956587

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.432A>C; p.E144D; 6:116003911-116003911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.579C>A; p.Y193*; 6:115968627-115968627

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Nonsense

c.579C>A; p.Y193*; 6:115968627-115968627

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Nonsense

c.76T>C; p.S26P; 6:116060236-116060236

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.805A>G; p.M269V; 6:115956605-115956605

 central_nervous_system; braingliomaSubstitution - Missense

c.824T>C; p.L275P; 6:115956586-115956586

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.692G>A; p.R231H; 6:115967658-115967658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1450C>A; p.R484S; 6:115942482-115942482

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.35T>G; p.L12R; 6:116060277-116060277

 livercarcinomaSubstitution - Missense

c.35T>G; p.L12R; 6:116060277-116060277

 livercarcinomaSubstitution - Missense

c.803C>T; p.S268L; 6:115956607-115956607

 skinmalignant_melanomaSubstitution - Missense

c.295T>A; p.Y99N; 6:116060017-116060017

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.154G>C; p.D52H; 6:116060158-116060158

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.154G>C; p.D52H; 6:116060158-116060158

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.535C>T; p.R179*; 6:115968671-115968671

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Nonsense

c.535C>T; p.R179*; 6:115968671-115968671

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1133_1138delTTTTTA; p.V378_K380>E; 6:115944246-115944251

 livercarcinoma; hepatocellular_carcinomaComplex - deletion inframe

c.1133_1138delTTTTTA; p.V378_K380>E; 6:115944246-115944251

 livercarcinoma; hepatocellular_carcinomaComplex - deletion inframe

c.505A>C; p.R169R; 6:115968701-115968701

 skinmalignant_melanomaSubstitution - coding silent

c.368G>T; p.R123I; 6:116003975-116003975

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.445A>T; p.K149*; 6:116003898-116003898

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.412G>C; p.G138R; 6:116003931-116003931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.411C>T; p.T137T; 6:116003932-116003932

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1164A>C; p.E388D; 6:115943162-115943162

 livercarcinomaSubstitution - Missense

c.558G>A; p.L186L; 6:115968648-115968648

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.261A>C; p.K87N; 6:116060051-116060051

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.261A>C; p.K87N; 6:116060051-116060051

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1365A>G; p.P455P; 6:115942567-115942567

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.62C>T; p.T21M; 6:116060250-116060250

 central_nervous_system; braingliomaSubstitution - Missense

c.1430G>A; p.R477Q; 6:115942502-115942502

 skinmalignant_melanomaSubstitution - Missense

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