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

Basic Information

Gene ID

27129

Name

HSPB7

Synonymous

heat shock 27kDa protein family, member 7 (cardiovascular);HSPB7;heat shock 27kDa protein family, member 7 (cardiovascular)

Definition

cardiovascular heat shock protein|heat shock 27kD protein family, member 7 (cardiovascular)|heat shock protein beta-7

Position

1p36.13

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 0.23.

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.179C>A; p.S60*; 1:16017785-16017785

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.441C>A; p.L147L; 1:16015652-16015652

 thyroidother; neoplasmSubstitution - coding silent

c.360C>T; p.N120N; 1:16015733-16015733

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.56C>A; p.S19Y; 1:16017908-16017908

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.124G>A; p.E42K; 1:16017840-16017840

 livercarcinomaSubstitution - Missense

c.254C>T; p.A85V; 1:16017153-16017153

 skinmalignant_melanomaSubstitution - Missense

c.466C>G; p.H156D; 1:16015627-16015627

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.399C>T; p.D133D; 1:16015694-16015694

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.145delT; p.S49fs*30; 1:16017819-16017819

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.112G>A; p.D38N; 1:16017852-16017852

 skinmalignant_melanomaSubstitution - Missense

c.512G>A; p.*171*; 1:16015581-16015581

 breastcarcinomaSubstitution - coding silent

c.458G>A; p.R153H; 1:16015635-16015635

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.169C>T; p.R57W; 1:16017795-16017795

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.92C>T; p.S31F; 1:16017872-16017872

 skin; trunkmalignant_melanomaSubstitution - Missense

c.316G>T; p.E106*; 1:16017091-16017091

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.465G>T; p.P155P; 1:16015628-16015628

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.203G>A; p.R68H; 1:16017204-16017204

 central_nervous_system; braingliomaSubstitution - Missense

c.207C>T; p.P69P; 1:16017200-16017200

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.202C>T; p.R68C; 1:16017205-16017205

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.228G>C; p.K76N; 1:16017179-16017179

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.286A>T; p.I96F; 1:16017121-16017121

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.66C>A; p.S22S; 1:16017898-16017898

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.447C>T; p.I149I; 1:16015646-16015646

 skinmalignant_melanomaSubstitution - coding silent

c.179C>G; p.S60W; 1:16017785-16017785

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.66C>T; p.S22S; 1:16017898-16017898

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.322C>A; p.R108R; 1:16017085-16017085

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.495G>A; p.R165R; 1:16015598-16015598

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.378C>T; p.C126C; 1:16015715-16015715

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.388G>A; p.E130K; 1:16015705-16015705

 skinmalignant_melanomaSubstitution - Missense

c.370C>G; p.H124D; 1:16015723-16015723

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.257T>A; p.V86E; 1:16017150-16017150

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.87G>A; p.S29S; 1:16017877-16017877

 pancreascarcinomaSubstitution - coding silent

c.339G>A; p.A113A; 1:16015754-16015754

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.57C>T; p.S19S; 1:16017907-16017907

 thyroidother; neoplasmSubstitution - coding silent

c.123G>A; p.M41I; 1:16017841-16017841

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.323G>A; p.R108Q; 1:16017084-16017084

 skinmalignant_melanomaSubstitution - Missense

c.400C>T; p.P134S; 1:16015693-16015693

 skinmalignant_melanomaSubstitution - Missense

c.315C>T; p.I105I; 1:16017092-16017092

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

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