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

Basic Information

Gene ID

89884

Name

LHX4

Synonymous

LIM homeobox 4;LHX4;LIM homeobox 4

Definition

LIM homeobox protein 4|LIM/homeobox protein Lhx4

Position

1q25.2

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 0.03.

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.898C>G; p.Q300E; 1:180274304-180274304

urinary_tract; bladdercarcinomaSubstitution - Missense

c.775C>T; p.R259*; 1:180272003-180272003

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1147G>A; p.D383N; 1:180274553-180274553

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.452-5T>C; p.?; 1:180271375-180271375

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.641G>A; p.R214H; 1:180271869-180271869

breastcarcinomaSubstitution - Missense

c.607-2A>G; p.?; 1:180271833-180271833

kidneyother; neoplasmUnknown

c.1012T>G; p.L338V; 1:180274418-180274418

skinmalignant_melanomaSubstitution - Missense

c.669C>T; p.R223R; 1:180271897-180271897

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.293C>A; p.P98Q; 1:180266436-180266436

autonomic_ganglianeuroblastomaSubstitution - Missense

c.272C>A; p.A91D; 1:180266415-180266415

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.272C>A; p.A91D; 1:180266415-180266415

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.776G>A; p.R259Q; 1:180272004-180272004

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.919C>A; p.P307T; 1:180274325-180274325

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.251G>A; p.R84H; 1:180266394-180266394

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.846C>T; p.G282G; 1:180274252-180274252

breastcarcinomaSubstitution - coding silent

c.964T>C; p.S322P; 1:180274370-180274370

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.704G>A; p.R235Q; 1:180271932-180271932

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.519G>T; p.K173N; 1:180271447-180271447

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.194C>T; p.A65V; 1:180248402-180248402

pancreascarcinomaSubstitution - Missense

c.1077C>T; p.P359P; 1:180274483-180274483

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.983A>G; p.N328S; 1:180274389-180274389

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.983A>G; p.N328S; 1:180274389-180274389

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.983A>G; p.N328S; 1:180274389-180274389

thyroidother; neoplasmSubstitution - Missense

c.377C>T; p.T126M; 1:180266520-180266520

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.365G>A; p.R122Q; 1:180266508-180266508

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.161G>A; p.C54Y; 1:180248369-180248369

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.167A>C; p.K56T; 1:180248375-180248375

breastcarcinomaSubstitution - Missense

c.970G>A; p.A324T; 1:180274376-180274376

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.802G>A; p.G268S; 1:180274208-180274208

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.970G>A; p.A324T; 1:180274376-180274376

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.970G>A; p.A324T; 1:180274376-180274376

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.611G>A; p.W204*; 1:180271839-180271839

skinmalignant_melanomaSubstitution - Nonsense

c.129G>A; p.L43L; 1:180248337-180248337

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.734C>T; p.S245F; 1:180271962-180271962

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.509A>G; p.E170G; 1:180271437-180271437

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.385G>A; p.E129K; 1:180266528-180266528

skinmalignant_melanomaSubstitution - Missense

c.385G>A; p.E129K; 1:180266528-180266528

skinmalignant_melanomaSubstitution - Missense

c.281A>T; p.Q94L; 1:180266424-180266424

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.258C>A; p.G86G; 1:180266401-180266401

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.258C>T; p.G86G; 1:180266401-180266401

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.298C>A; p.Q100K; 1:180266441-180266441

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1090T>C; p.S364P; 1:180274496-180274496

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.829G>A; p.V277M; 1:180274235-180274235

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.829G>A; p.V277M; 1:180274235-180274235

urinary_tract; bladdercarcinomaSubstitution - Missense

c.71T>G; p.M24R; 1:180230600-180230600

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1020C>A; p.I340I; 1:180274426-180274426

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.771C>T; p.S257S; 1:180271999-180271999

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1025C>G; p.A342G; 1:180274431-180274431

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.734C>G; p.S245C; 1:180271962-180271962

urinary_tract; bladdercarcinomaSubstitution - Missense

c.551G>C; p.R184P; 1:180271479-180271479

pancreascarcinomaSubstitution - Missense

c.828C>T; p.N276N; 1:180274234-180274234

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.828C>T; p.N276N; 1:180274234-180274234

prostatecarcinomaSubstitution - coding silent

c.1039G>A; p.G347R; 1:180274445-180274445

skinmalignant_melanomaSubstitution - Missense

c.569T>C; p.L190P; 1:180271497-180271497

kidneyother; neoplasmSubstitution - Missense

c.218G>A; p.G73E; 1:180248426-180248426

skinmalignant_melanomaSubstitution - Missense

c.777A>T; p.R259R; 1:180272005-180272005

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1117G>A; p.D373N; 1:180274523-180274523

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.667C>T; p.R223C; 1:180271895-180271895

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.722_724delAGA; p.K242delK; 1:180271950-180271952

lungcarcinoma; small_cell_carcinomaDeletion - In frame

c.81T>C; p.I27I; 1:180248289-180248289

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.804C>T; p.G268G; 1:180274210-180274210

skinmalignant_melanomaSubstitution - coding silent

c.245T>C; p.F82S; 1:180248453-180248453

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.636G>T; p.E212D; 1:180271864-180271864

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.342C>A; p.C114*; 1:180266485-180266485

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.913G>A; p.G305R; 1:180274319-180274319

skin; extremitymalignant_melanomaSubstitution - Missense

c.243C>T; p.F81F; 1:180248451-180248451

skinmalignant_melanomaSubstitution - coding silent

c.400G>A; p.E134K; 1:180266543-180266543

oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.825C>T; p.G275G; 1:180274231-180274231

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.430T>C; p.Y144H; 1:180266573-180266573

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.945C>T; p.S315S; 1:180274351-180274351

skinmalignant_melanomaSubstitution - coding silent

c.1040G>A; p.G347E; 1:180274446-180274446

skinmalignant_melanomaSubstitution - Missense

c.1040G>A; p.G347E; 1:180274446-180274446

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.903C>T; p.D301D; 1:180274309-180274309

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.672G>C; p.W224C; 1:180271900-180271900

skinmalignant_melanomaSubstitution - Missense

c.877G>A; p.D293N; 1:180274283-180274283

skinmalignant_melanomaSubstitution - Missense

c.814A>G; p.R272G; 1:180274220-180274220

breastcarcinomaSubstitution - Missense

c.359G>A; p.C120Y; 1:180266502-180266502

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.249G>A; p.K83K; 1:180266392-180266392

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.876G>A; p.M292I; 1:180274282-180274282

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.482G>A; p.R161Q; 1:180271410-180271410

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.779-1G>A; p.?; 1:180274184-180274184

lungcarcinoma; adenocarcinomaUnknown

c.949A>G; p.I317V; 1:180274355-180274355

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.880G>A; p.G294R; 1:180274286-180274286

skinmalignant_melanomaSubstitution - Missense

c.880G>A; p.G294R; 1:180274286-180274286

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.1053G>A; p.T351T; 1:180274459-180274459

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent


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