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

Basic Information

Gene ID

92344

Name

GORAB

Synonymous

golgin, RAB6-interacting;GORAB;golgin, RAB6-interacting

Definition

N-terminal kinase-like-binding protein 1|NTKL-binding protein 1|RAB6-interacting golgin|SCY1-like 1 binding protein 1|SCY1-like 1-binding protein 1|SCYL1-BP1|SCYL1-binding protein 1|hNTKL-BP1

Position

1q24.2

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 0.16.

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.357C>T; p.P119P; 1:170539430-170539430

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.184C>T; p.Q62*; 1:170539257-170539257

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.549G>T; p.E183D; 1:170542545-170542545

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.72G>C; p.G24G; 1:170532220-170532220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.549G>T; p.E183D; 1:170542545-170542545

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.843A>G; p.I281M; 1:170552120-170552120

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.96A>C; p.G32G; 1:170532244-170532244

 thyroidother; neoplasmSubstitution - coding silent

c.932A>T; p.E311V; 1:170552209-170552209

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.991C>T; p.R331C; 1:170552268-170552268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.991C>T; p.R331C; 1:170552268-170552268

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.991C>T; p.R331C; 1:170552268-170552268

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.991C>T; p.R331C; 1:170552268-170552268

 skinmalignant_melanomaSubstitution - Missense

c.751A>G; p.R251G; 1:170552028-170552028

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.793C>T; p.R265C; 1:170552070-170552070

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.389G>A; p.S130N; 1:170539462-170539462

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.162delC; p.A56fs*15; 1:170539235-170539235

 pancreascarcinoma; ductal_carcinomaDeletion - Frameshift

c.139C>T; p.P47S; 1:170539212-170539212

 skinmalignant_melanomaSubstitution - Missense

c.139C>T; p.P47S; 1:170539212-170539212

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.562delA; p.A190fs*19; 1:170542558-170542558

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.478A>G; p.K160E; 1:170539551-170539551

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.69C>A; p.P23P; 1:170532217-170532217

 skinmalignant_melanomaSubstitution - coding silent

c.1081C>T; p.P361S; 1:170552358-170552358

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.999G>T; p.E333D; 1:170552276-170552276

 prostatecarcinomaSubstitution - Missense

c.571C>G; p.L191V; 1:170542567-170542567

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.997G>C; p.E333Q; 1:170552274-170552274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37A>G; p.R13G; 1:170532185-170532185

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.398A>G; p.K133R; 1:170539471-170539471

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.958G>A; p.E320K; 1:170552235-170552235

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.740delA; p.K247fs*15; 1:170552017-170552017

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.740delA; p.K247fs*15; 1:170552017-170552017

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.972A>C; p.E324D; 1:170552249-170552249

 pancreascarcinomaSubstitution - Missense

c.889C>A; p.Q297K; 1:170552166-170552166

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1062T>C; p.C354C; 1:170552339-170552339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.114G>C; p.L38L; 1:170532262-170532262

 breastcarcinomaSubstitution - coding silent

c.679G>A; p.D227N; 1:170544787-170544787

 skinmalignant_melanomaSubstitution - Missense

c.21G>A; p.L7L; 1:170532169-170532169

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.420C>A; p.S140S; 1:170539493-170539493

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.822T>C; p.T274T; 1:170552099-170552099

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.495-4C>T; p.?; 1:170542487-170542487

 urinary_tract; bladdercarcinomaUnknown

c.935T>G; p.V312G; 1:170552212-170552212

 breastcarcinomaSubstitution - Missense

c.38G>A; p.R13K; 1:170532186-170532186

 pancreascarcinomaSubstitution - Missense

c.775G>T; p.A259S; 1:170552052-170552052

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.332C>T; p.P111L; 1:170539405-170539405

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.732delC; p.Y244fs*1; 1:170544840-170544840

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.1124T>G; p.F375C; 1:170552401-170552401

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1141C>T; p.P381S; 1:170552418-170552418

 skinmalignant_melanomaSubstitution - Missense

c.369A>G; p.G123G; 1:170539442-170539442

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.752G>T; p.R251M; 1:170552029-170552029

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.942C>T; p.V314V; 1:170552219-170552219

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1087G>A; p.V363I; 1:170552364-170552364

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.196G>A; p.E66K; 1:170539269-170539269

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.836C>T; p.T279M; 1:170552113-170552113

 breastcarcinomaSubstitution - Missense

c.839T>A; p.I280N; 1:170552116-170552116

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.224A>C; p.K75T; 1:170539297-170539297

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1126C>A; p.L376I; 1:170552403-170552403

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.140C>T; p.P47L; 1:170539213-170539213

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.599C>T; p.S200F; 1:170544707-170544707

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1079C>T; p.S360F; 1:170552356-170552356

 skinmalignant_melanomaSubstitution - Missense

c.980G>T; p.R327I; 1:170552257-170552257

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.784G>A; p.D262N; 1:170552061-170552061

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.836C>G; p.T279R; 1:170552113-170552113

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.970G>C; p.E324Q; 1:170552247-170552247

 breastcarcinomaSubstitution - Missense

c.739delA; p.K247fs*15; 1:170552016-170552016

 livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.454C>A; p.P152T; 1:170539527-170539527

 breastcarcinomaSubstitution - Missense

c.149C>T; p.P50L; 1:170539222-170539222

 breastcarcinomaSubstitution - Missense

c.3G>A; p.M1I; 1:170532151-170532151

 skinmalignant_melanomaSubstitution - Missense

c.559C>T; p.R187C; 1:170542555-170542555

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.559C>T; p.R187C; 1:170542555-170542555

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.454C>T; p.P152S; 1:170539527-170539527

 breastcarcinomaSubstitution - Missense

c.325A>G; p.T109A; 1:170539398-170539398

 skinmalignant_melanomaSubstitution - Missense

c.298G>A; p.V100I; 1:170539371-170539371

 prostateadenomaSubstitution - Missense

c.379G>T; p.G127C; 1:170539452-170539452

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1039T>C; p.F347L; 1:170552316-170552316

 pancreascarcinomaSubstitution - Missense

c.839T>C; p.I280T; 1:170552116-170552116

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.874T>C; p.L292L; 1:170552151-170552151

 skinmalignant_melanomaSubstitution - coding silent

c.1005A>G; p.P335P; 1:170552282-170552282

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.984A>T; p.P328P; 1:170552261-170552261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.171G>T; p.K57N; 1:170539244-170539244

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.984A>T; p.P328P; 1:170552261-170552261

 breastcarcinomaSubstitution - coding silent

c.372A>C; p.Q124H; 1:170539445-170539445

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.847C>T; p.Q283*; 1:170552124-170552124

 pancreascarcinomaSubstitution - Nonsense

c.227T>G; p.L76R; 1:170539300-170539300

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.847C>T; p.Q283*; 1:170552124-170552124

 pancreascarcinomaSubstitution - Nonsense

c.1100G>T; p.C367F; 1:170552377-170552377

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.847C>T; p.Q283*; 1:170552124-170552124

 pancreascarcinomaSubstitution - Nonsense

c.35C>T; p.A12V; 1:170532183-170532183

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1096C>T; p.Q366*; 1:170552373-170552373

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

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