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

Basic Information

Gene ID

54802

Name

TRIT1

Synonymous

tRNA isopentenyltransferase 1;TRIT1;tRNA isopentenyltransferase 1

Definition

IPP transferase|IPPT|IPTase|hGRO1|isopentenyl-diphosphate:tRNA isopentenyltransferase|tRNA dimethylallyltransferase, mitochondrial|tRNA isopentenylpyrophosphate transferase

Position

1p34.2

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 0.11.

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.227G>C; p.R76T; 1:39857365-39857365

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.606T>A; p.F202L; 1:39850216-39850216

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.606T>A; p.F202L; 1:39850216-39850216

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.606T>A; p.F202L; 1:39850216-39850216

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1314A>G; p.E438E; 1:39841834-39841834

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.606T>A; p.F202L; 1:39850216-39850216

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.315+5C>T; p.?; 1:39857272-39857272

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.315+5C>T; p.?; 1:39857272-39857272

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.706C>A; p.L236I; 1:39848095-39848095

 breastcarcinomaSubstitution - Missense

c.706C>A; p.L236I; 1:39848095-39848095

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1272G>C; p.K424N; 1:39841876-39841876

 oesophaguscarcinomaSubstitution - Missense

c.1272G>C; p.K424N; 1:39841876-39841876

 breastcarcinomaSubstitution - Missense

c.816-1G>T; p.?; 1:39847661-39847661

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1225G>A; p.E409K; 1:39844110-39844110

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1223G>A; p.R408H; 1:39844112-39844112

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.784C>T; p.R262C; 1:39848017-39848017

 livercarcinomaSubstitution - Missense

c.1098C>T; p.I366I; 1:39844549-39844549

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.433G>A; p.E145K; 1:39852858-39852858

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.749C>T; p.A250V; 1:39848052-39848052

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1118G>A; p.G373D; 1:39844217-39844217

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.806C>T; p.S269L; 1:39847995-39847995

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.894C>T; p.C298C; 1:39847582-39847582

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.24A>T; p.R8R; 1:39883468-39883468

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1175G>T; p.R392I; 1:39844160-39844160

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1248C>A; p.S416S; 1:39841900-39841900

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1086T>A; p.P362P; 1:39844561-39844561

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1347A>C; p.E449D; 1:39841801-39841801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.344T>A; p.I115N; 1:39854040-39854040

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.845C>T; p.S282L; 1:39847631-39847631

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1124A>T; p.K375M; 1:39844211-39844211

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1028_1029insC; p.V344fs*8; 1:39844618-39844619

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.992A>C; p.N331T; 1:39847234-39847234

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.458A>T; p.E153V; 1:39852833-39852833

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1114C>T; p.Q372*; 1:39844533-39844533

 skinmalignant_melanomaSubstitution - Nonsense

c.349A>G; p.I117V; 1:39854035-39854035

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.430A>T; p.T144S; 1:39852861-39852861

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.430A>T; p.T144S; 1:39852861-39852861

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.609C>T; p.L203L; 1:39850213-39850213

 skinmalignant_melanomaSubstitution - coding silent

c.609C>T; p.L203L; 1:39850213-39850213

 skinmalignant_melanomaSubstitution - coding silent

c.209T>G; p.V70G; 1:39857383-39857383

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1153T>C; p.Y385H; 1:39844182-39844182

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1192G>C; p.D398H; 1:39844143-39844143

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.153C>T; p.I51I; 1:39883339-39883339

 skinmalignant_melanomaSubstitution - coding silent

c.1222C>T; p.R408C; 1:39844113-39844113

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1381C>G; p.Q461E; 1:39841767-39841767

 breastcarcinomaSubstitution - Missense

c.1051G>A; p.D351N; 1:39844596-39844596

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1331delC; p.P444fs*20; 1:39841817-39841817

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.919C>T; p.L307L; 1:39847557-39847557

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.664T>C; p.S222P; 1:39850158-39850158

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.174+2T>A; p.?; 1:39883316-39883316

 breastcarcinomaUnknown

c.1006+4A>C; p.?; 1:39847216-39847216

 stomachadenocarcinomaUnknown

c.1402_1403insTT; p.*468fs?; 1:39841745-39841746

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinomaSubstitution - Nonsense

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinomaSubstitution - Nonsense

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinomaSubstitution - Nonsense

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinomaSubstitution - Nonsense

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinomaSubstitution - Nonsense

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.334C>T; p.R112*; 1:39854050-39854050

 pancreascarcinomaSubstitution - Nonsense

c.857A>G; p.K286R; 1:39847619-39847619

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1078C>A; p.L360I; 1:39844569-39844569

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1023C>T; p.V341V; 1:39844624-39844624

 skinmalignant_melanomaSubstitution - coding silent

c.23G>C; p.R8P; 1:39883469-39883469

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1272G>A; p.K424K; 1:39841876-39841876

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.901G>A; p.E301K; 1:39847575-39847575

 skinmalignant_melanomaSubstitution - Missense

c.1205G>T; p.R402L; 1:39844130-39844130

 central_nervous_system; braingliomaSubstitution - Missense

c.288_289GG>AA; p.D97N; 1:39857303-39857304

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.33C>T; p.P11P; 1:39883459-39883459

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.33C>T; p.P11P; 1:39883459-39883459

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.33C>T; p.P11P; 1:39883459-39883459

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.33C>T; p.P11P; 1:39883459-39883459

 breastcarcinomaSubstitution - coding silent

c.1089T>G; p.A363A; 1:39844558-39844558

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.33C>T; p.P11P; 1:39883459-39883459

 breastcarcinomaSubstitution - coding silent

c.1298C>A; p.A433D; 1:39841850-39841850

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1002_1003insT; p.S335fs*1; 1:39847223-39847224

 stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.71C>G; p.P24R; 1:39883421-39883421

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.537A>G; p.P179P; 1:39852754-39852754

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.537A>G; p.P179P; 1:39852754-39852754

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.212C>T; p.S71F; 1:39857380-39857380

 skinmalignant_melanomaSubstitution - Missense

c.602A>C; p.E201A; 1:39850220-39850220

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.524C>T; p.A175V; 1:39852767-39852767

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1240A>G; p.I414V; 1:39841908-39841908

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.457G>C; p.E153Q; 1:39852834-39852834

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.610delC; p.H204fs*16; 1:39850212-39850212

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1309A>G; p.I437V; 1:39841839-39841839

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.972A>T; p.K324N; 1:39847254-39847254

 ovaryother; neoplasmSubstitution - Missense

c.754C>T; p.L252F; 1:39848047-39848047

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1236G>A; p.A412A; 1:39841912-39841912

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.581A>G; p.E194G; 1:39850241-39850241

 skinmalignant_melanomaSubstitution - Missense

c.994C>A; p.R332S; 1:39847232-39847232

 skinmalignant_melanomaSubstitution - Missense

c.23G>T; p.R8L; 1:39883469-39883469

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.415-2A>T; p.?; 1:39852878-39852878

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.733G>T; p.D245Y; 1:39848068-39848068

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1307_1308CC>TT; p.T436I; 1:39841840-39841841

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.785G>A; p.R262H; 1:39848016-39848016

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.987delT; p.N331fs*4; 1:39847239-39847239

 skin; neckmalignant_melanomaDeletion - Frameshift

c.449G>A; p.R150Q; 1:39852842-39852842

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.449G>A; p.R150Q; 1:39852842-39852842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.449G>A; p.R150Q; 1:39852842-39852842

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

')