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

Basic Information

Gene ID

9455

Name

HOMER2

Synonymous

homer scaffolding protein 2;HOMER2;homer scaffolding protein 2

Definition

cupidin|homer homolog 2|homer homolog 3|homer protein homolog 2|homer, neuronal immediate early gene, 2

Position

15q24.3

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 0.08.

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.252G>A; p.K84K; 15:82892784-82892784

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.714G>A; p.Q238Q; 15:82859031-82859031

 oesophaguscarcinomaSubstitution - coding silent

c.714G>A; p.Q238Q; 15:82859031-82859031

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.572C>G; p.S191C; 15:82864171-82864171

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.757C>T; p.L253F; 15:82854760-82854760

 breastcarcinomaSubstitution - Missense

c.1072G>A; p.E358K; 15:82849897-82849897

 breastcarcinomaSubstitution - Missense

c.891A>G; p.E297E; 15:82852235-82852235

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.760C>T; p.R254W; 15:82854757-82854757

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.760C>T; p.R254W; 15:82854757-82854757

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.748C>T; p.L250L; 15:82854769-82854769

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.581C>T; p.S194F; 15:82859164-82859164

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.800C>T; p.S267L; 15:82854717-82854717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.654C>T; p.A218A; 15:82859091-82859091

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.654C>T; p.A218A; 15:82859091-82859091

 skinmalignant_melanomaSubstitution - coding silent

c.1120G>A; p.D374N; 15:82849849-82849849

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.699G>A; p.K233K; 15:82859046-82859046

 skinmalignant_melanomaSubstitution - coding silent

c.539C>T; p.T180M; 15:82864204-82864204

 pancreascarcinomaSubstitution - Missense

c.248C>T; p.T83I; 15:82892788-82892788

 skinmalignant_melanomaSubstitution - Missense

c.539C>T; p.T180M; 15:82864204-82864204

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1130A>G; p.E377G; 15:82849839-82849839

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205A>G; p.I69V; 15:82892831-82892831

 skinmalignant_melanomaSubstitution - Missense

c.270G>T; p.A90A; 15:82892766-82892766

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.997C>A; p.L333I; 15:82851219-82851219

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.850G>C; p.E284Q; 15:82854667-82854667

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1152C>G; p.H384Q; 15:82849817-82849817

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.221C>T; p.A74V; 15:82892815-82892815

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221C>T; p.A74V; 15:82892815-82892815

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.911G>A; p.R304K; 15:82852215-82852215

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.492G>C; p.E164D; 15:82864251-82864251

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.302A>G; p.Y101C; 15:82892734-82892734

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.370A>G; p.I124V; 15:82875386-82875386

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.S98F; 15:82892743-82892743

 skinmalignant_melanomaSubstitution - Missense

c.431G>A; p.R144K; 15:82875325-82875325

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.776G>A; p.R259Q; 15:82854741-82854741

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.399G>A; p.T133T; 15:82875357-82875357

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.378G>A; p.P126P; 15:82875378-82875378

 skinmalignant_melanomaSubstitution - coding silent

c.378G>A; p.P126P; 15:82875378-82875378

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.505G>A; p.V169M; 15:82864238-82864238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.464C>T; p.S155F; 15:82875292-82875292

 skinmalignant_melanomaSubstitution - Missense

c.196G>T; p.E66*; 15:82892840-82892840

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.718G>A; p.A240T; 15:82854799-82854799

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.727G>A; p.V243M; 15:82854790-82854790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.727G>A; p.V243M; 15:82854790-82854790

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.195-9T>G; p.?; 15:82892850-82892850

 oesophaguscarcinoma; adenocarcinomaUnknown

c.288C>T; p.T96T; 15:82892748-82892748

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.325C>T; p.R109W; 15:82892711-82892711

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325C>T; p.R109W; 15:82892711-82892711

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.634G>A; p.D212N; 15:82859111-82859111

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.983C>T; p.T328I; 15:82852143-82852143

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.456G>A; p.G152G; 15:82875300-82875300

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.803C>A; p.A268E; 15:82854714-82854714

 breastcarcinomaSubstitution - Missense

c.1200T>C; p.I400I; 15:82849769-82849769

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.507G>T; p.V169V; 15:82864236-82864236

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.836C>T; p.S279F; 15:82854681-82854681

 skinmalignant_melanomaSubstitution - Missense

c.380A>G; p.N127S; 15:82875376-82875376

 livercarcinomaSubstitution - Missense

c.706T>C; p.L236L; 15:82859039-82859039

 pancreascarcinomaSubstitution - coding silent

c.810T>G; p.S270R; 15:82854707-82854707

 thyroidother; neoplasmSubstitution - Missense

c.1189G>A; p.D397N; 15:82849780-82849780

 breastcarcinomaSubstitution - Missense

c.756C>A; p.T252T; 15:82854761-82854761

 breastcarcinomaSubstitution - coding silent

c.624C>T; p.N208N; 15:82859121-82859121

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.624C>T; p.N208N; 15:82859121-82859121

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.675delG; p.K226fs*7; 15:82859070-82859070

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1162G>A; p.E388K; 15:82849807-82849807

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.552C>T; p.I184I; 15:82864191-82864191

 skinmalignant_melanomaSubstitution - coding silent

c.655G>A; p.G219S; 15:82859090-82859090

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.655G>A; p.G219S; 15:82859090-82859090

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.203C>T; p.P68L; 15:82892833-82892833

 skinmalignant_melanomaSubstitution - Missense

c.850G>A; p.E284K; 15:82854667-82854667

 breastcarcinomaSubstitution - Missense

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