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

Basic Information

Gene ID

23586

Name

DDX58

Synonymous

DEAD (Asp-Glu-Ala-Asp) box polypeptide 58;DDX58;DEAD (Asp-Glu-Ala-Asp) box polypeptide 58

Definition

DEAD box protein 58|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide|RNA helicase RIG-I|probable ATP-dependent RNA helicase DDX58|retinoic acid-inducible gene 1 protein|retinoic acid-inducible gene I protein

Position

9p12

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 0.15.

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.1371G>A; p.Q457Q; 9:32487475-32487475

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1422C>T; p.I474I; 9:32485233-32485233

 livercarcinomaSubstitution - coding silent

c.1422C>T; p.I474I; 9:32485233-32485233

 livercarcinomaSubstitution - coding silent

c.1738G>A; p.D580N; 9:32480255-32480255

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1059C>T; p.N353N; 9:32488098-32488098

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1440G>C; p.R480S; 9:32485215-32485215

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2189G>C; p.R730T; 9:32466438-32466438

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2604C>G; p.N868K; 9:32457296-32457296

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.268G>A; p.E90K; 9:32493916-32493916

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.369C>A; p.I123I; 9:32493815-32493815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1745T>A; p.I582N; 9:32480248-32480248

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.19C>T; p.R7C; 9:32526148-32526148

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1418A>G; p.Y473C; 9:32485237-32485237

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1171C>G; p.L391V; 9:32487986-32487986

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.326G>A; p.R109H; 9:32493858-32493858

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.731G>T; p.R244I; 9:32489412-32489412

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.731G>T; p.R244I; 9:32489412-32489412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1457C>T; p.A486V; 9:32485198-32485198

 livercarcinomaSubstitution - Missense

c.852delA; p.K284fs*63; 9:32488835-32488835

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1395A>G; p.S465S; 9:32485260-32485260

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1457C>T; p.A486V; 9:32485198-32485198

 livercarcinomaSubstitution - Missense

c.1447G>T; p.E483*; 9:32485208-32485208

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.1447G>T; p.E483*; 9:32485208-32485208

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.289delA; p.I97fs*11; 9:32493895-32493895

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.289delA; p.I97fs*11; 9:32493895-32493895

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.289delA; p.I97fs*11; 9:32493895-32493895

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.1172T>A; p.L391Q; 9:32487985-32487985

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1740T>A; p.D580E; 9:32480253-32480253

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.106+4A>G; p.?; 9:32526057-32526057

 prostatecarcinomaUnknown

c.2430C>A; p.C810*; 9:32459422-32459422

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.241G>T; p.G81C; 9:32500805-32500805

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1610C>T; p.A537V; 9:32481368-32481368

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1831C>A; p.L611I; 9:32477075-32477075

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2280G>T; p.M760I; 9:32466347-32466347

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1204C>T; p.L402L; 9:32487953-32487953

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.764T>C; p.M255T; 9:32489379-32489379

 pancreascarcinomaSubstitution - Missense

c.2136C>A; p.V712V; 9:32467811-32467811

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2614G>A; p.D872N; 9:32457286-32457286

 skinmalignant_melanomaSubstitution - Missense

c.2102A>C; p.D701A; 9:32467845-32467845

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1723C>T; p.R575*; 9:32480270-32480270

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2154G>T; p.V718V; 9:32467793-32467793

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1062C>A; p.N354K; 9:32488095-32488095

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1611C>G; p.A537A; 9:32481367-32481367

 breastcarcinomaSubstitution - coding silent

c.2400A>C; p.V800V; 9:32459452-32459452

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2602A>C; p.N868H; 9:32457298-32457298

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.453T>G; p.G151G; 9:32492509-32492509

 breastcarcinomaSubstitution - coding silent

c.2272G>C; p.E758Q; 9:32466355-32466355

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1924G>C; p.A642P; 9:32473065-32473065

 pancreasNSSubstitution - Missense

c.954G>A; p.G318G; 9:32488203-32488203

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.199G>A; p.E67K; 9:32500847-32500847

 skinmalignant_melanomaSubstitution - Missense

c.1737C>T; p.F579F; 9:32480256-32480256

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1929A>T; p.L643F; 9:32473060-32473060

 livercarcinomaSubstitution - Missense

c.1710C>T; p.F570F; 9:32480283-32480283

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1349A>G; p.E450G; 9:32487497-32487497

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2749C>T; p.P917S; 9:32457151-32457151

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.76C>A; p.L26M; 9:32526091-32526091

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.830T>G; p.I277R; 9:32488857-32488857

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.241+1G>A; p.?; 9:32500804-32500804

 oesophaguscarcinoma; adenocarcinomaUnknown

c.64C>A; p.P22T; 9:32526103-32526103

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1323A>G; p.T441T; 9:32487523-32487523

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1396C>T; p.R466W; 9:32485259-32485259

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2467G>A; p.V823I; 9:32459385-32459385

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2467G>A; p.V823I; 9:32459385-32459385

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2467G>A; p.V823I; 9:32459385-32459385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2467G>A; p.V823I; 9:32459385-32459385

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665T>G; p.L222R; 9:32491327-32491327

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.9C>T; p.T3T; 9:32526158-32526158

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1774G>A; p.E592K; 9:32480219-32480219

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1328A>G; p.K443R; 9:32487518-32487518

 skinmalignant_melanomaSubstitution - Missense

c.2071C>T; p.H691Y; 9:32467876-32467876

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2071C>T; p.H691Y; 9:32467876-32467876

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.948A>C; p.R316S; 9:32488739-32488739

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.891G>A; p.A297A; 9:32488796-32488796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.337G>T; p.E113*; 9:32493847-32493847

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.337G>T; p.E113*; 9:32493847-32493847

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1910G>A; p.R637K; 9:32476996-32476996

 pancreascarcinomaSubstitution - Missense

c.1581C>A; p.D527E; 9:32481397-32481397

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1523A>G; p.K508R; 9:32481455-32481455

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2297delT; p.L766fs*58; 9:32466330-32466330

 stomachadenocarcinomaDeletion - Frameshift

c.670G>A; p.E224K; 9:32491322-32491322

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2709A>G; p.T903T; 9:32457191-32457191

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1376-3T>C; p.?; 9:32485282-32485282

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.797C>T; p.T266I; 9:32489346-32489346

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2251G>A; p.E751K; 9:32466376-32466376

 breastcarcinomaSubstitution - Missense

c.1581C>T; p.D527D; 9:32481397-32481397

 breastcarcinomaSubstitution - coding silent

c.1335T>A; p.N445K; 9:32487511-32487511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1335T>A; p.N445K; 9:32487511-32487511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1335T>A; p.N445K; 9:32487511-32487511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1335T>A; p.N445K; 9:32487511-32487511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1335T>A; p.N445K; 9:32487511-32487511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1167T>G; p.N389K; 9:32487990-32487990

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.22A>G; p.S8G; 9:32526145-32526145

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1076C>T; p.T359M; 9:32488081-32488081

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.480C>T; p.L160L; 9:32492482-32492482

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2363A>C; p.K788T; 9:32459489-32459489

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.878T>C; p.V293A; 9:32488809-32488809

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2766A>T; p.E922D; 9:32457134-32457134

 livercarcinomaSubstitution - Missense

c.2766A>T; p.E922D; 9:32457134-32457134

 livercarcinomaSubstitution - Missense

c.502C>T; p.P168S; 9:32492460-32492460

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1879G>A; p.E627K; 9:32477027-32477027

 skinmalignant_melanomaSubstitution - Missense

c.1461G>C; p.K487N; 9:32485194-32485194

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2421_2422insA; p.L808fs*15; 9:32459430-32459431

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1461G>C; p.K487N; 9:32485194-32485194

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2576G>A; p.R859K; 9:32457324-32457324

 thyroidcarcinomaSubstitution - Missense

c.2481G>A; p.E827E; 9:32459371-32459371

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2272G>T; p.E758*; 9:32466355-32466355

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1794A>C; p.E598D; 9:32477112-32477112

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.242-7T>A; p.?; 9:32493949-32493949

 kidneyother; neoplasmUnknown

c.364G>A; p.D122N; 9:32493820-32493820

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1081C>T; p.P361S; 9:32488076-32488076

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.88G>A; p.A30T; 9:32526079-32526079

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.800-2A>C; p.?; 9:32488889-32488889

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2388delA; p.K796fs*28; 9:32459464-32459464

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2597G>A; p.R866Q; 9:32457303-32457303

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.235C>T; p.H79Y; 9:32500811-32500811

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2300G>A; p.R767H; 9:32466327-32466327

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.289_290insA; p.I97fs*2; 9:32493894-32493895

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1907C>G; p.T636S; 9:32476999-32476999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 9:32526166-32526166

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1636C>T; p.R546W; 9:32481342-32481342

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1922A>G; p.D641G; 9:32476984-32476984

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2665A>C; p.I889L; 9:32457235-32457235

 NSmalignant_melanomaSubstitution - Missense

c.2665A>C; p.I889L; 9:32457235-32457235

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1313T>C; p.V438A; 9:32487533-32487533

 breastcarcinomaSubstitution - Missense

c.182T>G; p.L61R; 9:32500864-32500864

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.2665A>C; p.I889L; 9:32457235-32457235

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.821C>G; p.S274*; 9:32488866-32488866

 livercarcinomaSubstitution - Nonsense

c.2190A>G; p.R730R; 9:32466437-32466437

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.797C>A; p.T266K; 9:32489346-32489346

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.2586A>G; p.I862M; 9:32457314-32457314

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2698G>A; p.G900R; 9:32457202-32457202

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.302A>C; p.E101A; 9:32493882-32493882

 ovaryother; neoplasmSubstitution - Missense

c.2356C>T; p.H786Y; 9:32459496-32459496

 breastcarcinomaSubstitution - Missense

c.1307C>T; p.A436V; 9:32487539-32487539

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.381G>A; p.L127L; 9:32493803-32493803

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1232C>T; p.S411L; 9:32487614-32487614

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1232C>T; p.S411L; 9:32487614-32487614

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2686G>C; p.D896H; 9:32457214-32457214

 skinmalignant_melanomaSubstitution - Missense

c.1747G>T; p.E583*; 9:32480246-32480246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.126G>T; p.Q42H; 9:32500920-32500920

 pancreascarcinomaSubstitution - Missense

c.213T>C; p.R71R; 9:32500833-32500833

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.572-2A>C; p.?; 9:32491422-32491422

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.2317G>A; p.E773K; 9:32466310-32466310

 breastcarcinomaSubstitution - Missense

c.606T>C; p.D202D; 9:32491386-32491386

 breastcarcinomaSubstitution - coding silent

c.2272G>A; p.E758K; 9:32466355-32466355

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2272G>A; p.E758K; 9:32466355-32466355

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.2129A>T; p.N710I; 9:32467818-32467818

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1398G>T; p.R466R; 9:32485257-32485257

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2719A>T; p.K907*; 9:32457181-32457181

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.373T>C; p.S125P; 9:32493811-32493811

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.379C>T; p.L127L; 9:32493805-32493805

 skinmalignant_melanomaSubstitution - coding silent

c.1806G>T; p.R602S; 9:32477100-32477100

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.116A>T; p.Q39L; 9:32500930-32500930

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1471A>C; p.K491Q; 9:32485184-32485184

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.210C>T; p.F70F; 9:32500836-32500836

 skinmalignant_melanomaSubstitution - coding silent

c.1146G>A; p.P382P; 9:32488011-32488011

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.210C>T; p.F70F; 9:32500836-32500836

 skinmalignant_melanomaSubstitution - coding silent

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