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

Basic Information

Gene ID

231

Name

AKR1B1

Synonymous

aldo-keto reductase family 1, member B1 (aldose reductase);AKR1B1;aldo-keto reductase family 1, member B1 (aldose reductase)

Definition

Lii5-2 CTCL tumor antigen|aldehyde reductase 1|aldo-keto reductase family 1 member B1|aldose reductase|low Km aldose reductase

Position

7q35

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

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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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.14.

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.356_357delGG; p.G119fs*8; 7:134449792-134449793

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.676C>T; p.P226S; 7:134448045-134448045

 skin; trunkmalignant_melanomaSubstitution - Missense

c.41C>G; p.P14R; 7:134459022-134459022

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.61_62insT; p.W21fs*10; 7:134459001-134459002

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.752G>A; p.R251Q; 7:134447371-134447371

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.656C>T; p.P219L; 7:134448390-134448390

 skinmalignant_melanomaSubstitution - Missense

c.112G>A; p.V38I; 7:134451708-134451708

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.531G>A; p.K177K; 7:134449018-134449018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.371C>T; p.P124L; 7:134449778-134449778

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.338C>T; p.P113L; 7:134450799-134450799

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.239G>A; p.W80*; 7:134450898-134450898

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.539C>T; p.P180L; 7:134449010-134449010

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecifiedSubstitution - Missense

c.668C>T; p.P223L; 7:134448053-134448053

 skin; extremitymalignant_melanomaSubstitution - Missense

c.806G>A; p.R269H; 7:134447317-134447317

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.806G>A; p.R269H; 7:134447317-134447317

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.859A>G; p.T287A; 7:134445287-134445287

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 7:134459060-134459060

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.871A>C; p.S291R; 7:134445275-134445275

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.173C>T; p.A58V; 7:134451647-134451647

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.816G>T; p.E272D; 7:134447307-134447307

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.616G>A; p.V206M; 7:134448430-134448430

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.615C>T; p.I205I; 7:134448431-134448431

 skinmalignant_melanomaSubstitution - coding silent

c.615C>T; p.I205I; 7:134448431-134448431

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.615C>T; p.I205I; 7:134448431-134448431

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.374T>C; p.L125S; 7:134449775-134449775

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.819C>G; p.N273K; 7:134447304-134447304

 ovaryother; neoplasmSubstitution - Missense

c.819C>G; p.N273K; 7:134447304-134447304

 ovaryother; neoplasmSubstitution - Missense

c.103G>A; p.A35T; 7:134451717-134451717

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.793G>A; p.V265M; 7:134447330-134447330

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.337_338CC>TT; p.P113L; 7:134450799-134450800

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.793G>A; p.V265M; 7:134447330-134447330

 stomachadenocarcinomaSubstitution - Missense

c.682C>G; p.L228V; 7:134448039-134448039

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.208C>T; p.R70C; 7:134451612-134451612

 prostatecarcinomaSubstitution - Missense

c.63G>A; p.W21*; 7:134459000-134459000

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.384G>T; p.S128S; 7:134449765-134449765

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.384G>T; p.S128S; 7:134449765-134449765

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.889A>G; p.R297G; 7:134445257-134445257

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.339G>A; p.P113P; 7:134450798-134450798

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.258G>A; p.K86K; 7:134450879-134450879

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.311A>G; p.Y104C; 7:134450826-134450826

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.79C>A; p.Q27K; 7:134451741-134451741

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.927T>G; p.D309E; 7:134442752-134442752

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.625G>A; p.A209T; 7:134448421-134448421

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.111C>T; p.D37D; 7:134451709-134451709

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.78G>T; p.G26G; 7:134451742-134451742

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.347T>C; p.F116S; 7:134450790-134450790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.118T>C; p.Y40H; 7:134451702-134451702

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.E85K; 7:134450884-134450884

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.567A>G; p.P189P; 7:134448479-134448479

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.203T>G; p.V68G; 7:134451617-134451617

 breastcarcinomaSubstitution - Missense

c.769A>G; p.N257D; 7:134447354-134447354

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.719A>C; p.K240T; 7:134448002-134448002

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.214G>T; p.E72*; 7:134451606-134451606

 breastcarcinomaSubstitution - Nonsense

c.828C>A; p.V276V; 7:134445318-134445318

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.483C>T; p.N161N; 7:134449066-134449066

 ovaryother; neoplasmSubstitution - coding silent

c.369C>T; p.F123F; 7:134449780-134449780

 skinmalignant_melanomaSubstitution - coding silent

c.369C>T; p.F123F; 7:134449780-134449780

 skinmalignant_melanomaSubstitution - coding silent

c.369C>T; p.F123F; 7:134449780-134449780

 skinmalignant_melanomaSubstitution - coding silent

c.319C>T; p.L107F; 7:134450818-134450818

 skinmalignant_melanomaSubstitution - Missense

c.369C>T; p.F123F; 7:134449780-134449780

 skinmalignant_melanomaSubstitution - coding silent

c.369C>T; p.F123F; 7:134449780-134449780

 skinmalignant_melanomaSubstitution - coding silent

c.894C>A; p.V298V; 7:134445252-134445252

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.147C>A; p.Y49*; 7:134451673-134451673

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.618G>T; p.V206V; 7:134448428-134448428

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.406A>T; p.T136S; 7:134449743-134449743

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.624C>T; p.T208T; 7:134448422-134448422

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.660-2A>T; p.?; 7:134448063-134448063

 lungcarcinoma; adenocarcinomaUnknown

c.225C>T; p.I75I; 7:134451595-134451595

 skinmalignant_melanomaSubstitution - coding silent

c.712G>A; p.A238T; 7:134448009-134448009

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.712G>A; p.A238T; 7:134448009-134448009

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.756C>A; p.F252L; 7:134447367-134447367

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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