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

Basic Information

Gene ID

4015

Name

LOX

Synonymous

lysyl oxidase;LOX;lysyl oxidase

Definition

protein-lysine 6-oxidase

Position

5q23.2

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 0.08.

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.1247+1G>A; p.?; 5:122070052-122070052

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1247+1G>A; p.?; 5:122070052-122070052

 stomachcarcinoma; adenocarcinomaUnknown

c.464G>A; p.S155N; 5:122077522-122077522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.555C>A; p.N185K; 5:122077431-122077431

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.955C>T; p.H319Y; 5:122074093-122074093

 thyroidcarcinomaSubstitution - Missense

c.62G>A; p.C21Y; 5:122077924-122077924

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.53T>C; p.L18P; 5:122077933-122077933

 skinmalignant_melanomaSubstitution - Missense

c.1229C>G; p.S410*; 5:122070071-122070071

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.499G>A; p.V167M; 5:122077487-122077487

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.680A>G; p.Y227C; 5:122076953-122076953

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.99C>T; p.R33R; 5:122077887-122077887

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.117G>A; p.P39P; 5:122077869-122077869

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1010G>A; p.R337Q; 5:122074038-122074038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1246C>A; p.P416T; 5:122070054-122070054

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.493G>C; p.G165R; 5:122077493-122077493

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.426G>A; p.A142A; 5:122077560-122077560

 thyroidcarcinomaSubstitution - coding silent

c.364C>T; p.R122C; 5:122077622-122077622

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.364C>T; p.R122C; 5:122077622-122077622

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1037G>A; p.G346E; 5:122070588-122070588

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.419C>T; p.S140L; 5:122077567-122077567

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.316A>G; p.T106A; 5:122077670-122077670

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.740G>T; p.S247I; 5:122076893-122076893

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.80G>A; p.G27D; 5:122077906-122077906

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.273C>T; p.I91I; 5:122077713-122077713

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.978A>G; p.E326E; 5:122074070-122074070

 skinmalignant_melanomaSubstitution - coding silent

c.436A>G; p.T146A; 5:122077550-122077550

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.768T>G; p.D256E; 5:122075514-122075514

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.424G>A; p.A142T; 5:122077562-122077562

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.244G>A; p.A82T; 5:122077742-122077742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.916delC; p.L306fs*42; 5:122074132-122074132

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.842G>A; p.R281Q; 5:122075440-122075440

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.842G>A; p.R281Q; 5:122075440-122075440

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.473G>A; p.R158Q; 5:122077513-122077513

 breastcarcinomaSubstitution - Missense

c.550T>C; p.Y184H; 5:122077436-122077436

 livercarcinomaSubstitution - Missense

c.1235G>C; p.C412S; 5:122070065-122070065

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.550T>C; p.Y184H; 5:122077436-122077436

 livercarcinomaSubstitution - Missense

c.876T>A; p.H292Q; 5:122075406-122075406

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1246_1247CC>TT; p.P416L; 5:122070053-122070054

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1233C>A; p.G411G; 5:122070067-122070067

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.320C>T; p.A107V; 5:122077666-122077666

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.652G>A; p.D218N; 5:122076981-122076981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1201C>T; p.R401C; 5:122070099-122070099

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.968T>G; p.F323C; 5:122074080-122074080

 skinmalignant_melanomaSubstitution - Missense

c.1036-1G>A; p.?; 5:122070590-122070590

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.690G>T; p.K230N; 5:122076943-122076943

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1023T>C; p.T341T; 5:122074025-122074025

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.49G>A; p.A17T; 5:122077937-122077937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1248-1G>C; p.?; 5:122066750-122066750

 lungcarcinoma; small_cell_carcinomaUnknown

c.809A>G; p.K270R; 5:122075473-122075473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1003C>A; p.H335N; 5:122074045-122074045

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.450A>C; p.E150D; 5:122077536-122077536

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.734T>A; p.L245Q; 5:122076899-122076899

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.841C>T; p.R281*; 5:122075441-122075441

 breastcarcinomaSubstitution - Nonsense

c.925G>A; p.A309T; 5:122074123-122074123

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.765A>C; p.R255S; 5:122075517-122075517

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1045C>T; p.P349S; 5:122070580-122070580

 skinmalignant_melanomaSubstitution - Missense

c.1045C>T; p.P349S; 5:122070580-122070580

 skinmalignant_melanomaSubstitution - Missense

c.1220C>T; p.A407V; 5:122070080-122070080

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1020T>C; p.C340C; 5:122074028-122074028

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

')