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

Basic Information

Gene ID

51700

Name

CYB5R2

Synonymous

cytochrome b5 reductase 2;CYB5R2;cytochrome b5 reductase 2

Definition

NADH-cytochrome b5 reductase 2|cytochrome b5 reductase b5R.2

Position

11p15.4

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

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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 0.15.

The copy number variations for various cancers

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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.400A>G; p.I134V; 11:7668550-7668550

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.214G>A; p.V72I; 11:7669669-7669669

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.653C>T; p.P218L; 11:7666456-7666456

 skin; scalpmalignant_melanomaSubstitution - Missense

c.38A>T; p.D13V; 11:7672788-7672788

 livercarcinomaSubstitution - Missense

c.34C>T; p.Q12*; 11:7672792-7672792

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.202G>A; p.A68T; 11:7669681-7669681

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.21G>A; p.E7E; 11:7672805-7672805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.404G>C; p.R135T; 11:7668546-7668546

 breastcarcinomaSubstitution - Missense

c.234A>G; p.R78R; 11:7669649-7669649

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.716C>T; p.P239L; 11:7665489-7665489

 skinmalignant_melanomaSubstitution - Missense

c.352C>T; p.R118*; 11:7669241-7669241

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.534G>A; p.R178R; 11:7667752-7667752

 skinmalignant_melanomaSubstitution - coding silent

c.107G>A; p.R36H; 11:7672495-7672495

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.567G>T; p.E189D; 11:7666542-7666542

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.824C>T; p.T275I; 11:7665381-7665381

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.230A>G; p.D77G; 11:7669653-7669653

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.443A>T; p.D148V; 11:7668507-7668507

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.55C>T; p.P19S; 11:7672771-7672771

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.76G>C; p.E26Q; 11:7672750-7672750

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.446A>T; p.H149L; 11:7668504-7668504

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.589C>T; p.L197F; 11:7666520-7666520

 large_intestine; colonNSSubstitution - Missense

c.442G>A; p.D148N; 11:7668508-7668508

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.442G>A; p.D148N; 11:7668508-7668508

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.657T>G; p.I219M; 11:7666452-7666452

 thyroidcarcinomaSubstitution - Missense

c.678C>A; p.G226G; 11:7665527-7665527

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.624C>T; p.F208F; 11:7666485-7666485

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.770C>T; p.T257M; 11:7665435-7665435

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.770C>T; p.T257M; 11:7665435-7665435

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.449T>G; p.L150R; 11:7668501-7668501

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.150A>T; p.V50V; 11:7672452-7672452

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.8C>T; p.S3F; 11:7672818-7672818

 skinmalignant_melanomaSubstitution - Missense

c.762A>G; p.L254L; 11:7665443-7665443

 thyroidother; neoplasmSubstitution - coding silent

c.297T>G; p.G99G; 11:7669296-7669296

 breastcarcinomaSubstitution - coding silent

c.765C>A; p.I255I; 11:7665440-7665440

 pancreascarcinomaSubstitution - coding silent

c.74_75delAA; p.K25fs*27; 11:7672751-7672752

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.562G>A; p.E188K; 11:7666547-7666547

 breastcarcinomaSubstitution - Missense

c.433delA; p.T145fs*8; 11:7668517-7668517

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.433delA; p.T145fs*8; 11:7668517-7668517

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.433delA; p.T145fs*8; 11:7668517-7668517

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.241G>A; p.V81M; 11:7669642-7669642

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.367C>T; p.R123C; 11:7669226-7669226

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.58C>T; p.L20L; 11:7672768-7672768

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.193G>C; p.V65L; 11:7669690-7669690

 parathyroidcarcinomaSubstitution - Missense

c.334G>A; p.G112R; 11:7669259-7669259

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.640C>A; p.L214M; 11:7666469-7666469

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.652C>T; p.P218S; 11:7666457-7666457

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805A>G; p.T269A; 11:7665400-7665400

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.311A>C; p.Q104P; 11:7669282-7669282

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.682G>A; p.V228I; 11:7665523-7665523

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.521G>A; p.S174N; 11:7667765-7667765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.57G>A; p.P19P; 11:7672769-7672769

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.281C>T; p.P94L; 11:7669312-7669312

 skinmalignant_melanomaSubstitution - Missense

c.283delC; p.Q95fs*8; 11:7669310-7669310

 livercarcinomaDeletion - Frameshift

c.406C>T; p.P136S; 11:7668544-7668544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.406C>T; p.P136S; 11:7668544-7668544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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