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

Basic Information

Gene ID

26959

Name

HBP1

Synonymous

HMG-box transcription factor 1;HBP1;HMG-box transcription factor 1

Definition

HMG box transcription factor 1|HMG box-containing protein 1|high mobility group box transcription factor 1

Position

7q22.3

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 0.11.

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.1509G>C; p.K503N; 7:107200283-107200283

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.985C>T; p.H329Y; 7:107190235-107190235

 pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - Missense

c.84G>T; p.M28I; 7:107179977-107179977

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.969T>G; p.I323M; 7:107190219-107190219

 prostatecarcinomaSubstitution - Missense

c.1082C>T; p.P361L; 7:107195848-107195848

 skinmalignant_melanomaSubstitution - Missense

c.264A>C; p.R88S; 7:107182467-107182467

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.942A>G; p.P314P; 7:107190192-107190192

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1067+10G>C; p.?; 7:107190327-107190327

 breastcarcinomaUnknown

c.652+4_652+7delAAAC; p.?; 7:107186476-107186479

 oesophaguscarcinoma; adenocarcinomaUnknown

c.534C>T; p.H178H; 7:107185936-107185936

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.534C>T; p.H178H; 7:107185936-107185936

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.534C>T; p.H178H; 7:107185936-107185936

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.366A>C; p.Q122H; 7:107182569-107182569

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.169+2T>C; p.?; 7:107180064-107180064

 livercarcinomaUnknown

c.503A>G; p.H168R; 7:107185905-107185905

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.729T>G; p.C243W; 7:107186645-107186645

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.813A>C; p.V271V; 7:107189339-107189339

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1132C>T; p.R378C; 7:107195898-107195898

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.610T>C; p.C204R; 7:107186430-107186430

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.610T>C; p.C204R; 7:107186430-107186430

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1153G>T; p.G385*; 7:107195919-107195919

 livercarcinomaSubstitution - Nonsense

c.1153G>T; p.G385*; 7:107195919-107195919

 livercarcinomaSubstitution - Nonsense

c.1165C>G; p.Q389E; 7:107195931-107195931

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.230T>A; p.L77Q; 7:107182433-107182433

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1401C>A; p.I467I; 7:107200175-107200175

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1442G>T; p.R481I; 7:107200216-107200216

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>A; p.P340T; 7:107190268-107190268

 breastcarcinomaSubstitution - Missense

c.1423A>G; p.M475V; 7:107200197-107200197

 breastcarcinomaSubstitution - Missense

c.355A>G; p.T119A; 7:107182558-107182558

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.351C>T; p.I117I; 7:107182554-107182554

 skinmalignant_melanomaSubstitution - coding silent

c.1127A>C; p.Q376P; 7:107195893-107195893

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.181G>A; p.E61K; 7:107182384-107182384

 skin; trunkmalignant_melanomaSubstitution - Missense

c.882A>T; p.V294V; 7:107189408-107189408

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.77C>T; p.S26L; 7:107179970-107179970

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1007C>T; p.P336L; 7:107190257-107190257

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1086G>A; p.M362I; 7:107195852-107195852

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.847G>A; p.D283N; 7:107189373-107189373

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.847G>A; p.D283N; 7:107189373-107189373

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.808A>T; p.S270C; 7:107189334-107189334

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.343G>A; p.A115T; 7:107182546-107182546

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1039G>T; p.D347Y; 7:107190289-107190289

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1021G>A; p.D341N; 7:107190271-107190271

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1500C>G; p.D500E; 7:107200274-107200274

 livercarcinomaSubstitution - Missense

c.1500C>G; p.D500E; 7:107200274-107200274

 livercarcinomaSubstitution - Missense

c.1115G>A; p.S372N; 7:107195881-107195881

 skinmalignant_melanomaSubstitution - Missense

c.319G>T; p.E107*; 7:107182522-107182522

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.451C>T; p.R151C; 7:107185853-107185853

 oesophaguscarcinomaSubstitution - Missense

c.115G>A; p.E39K; 7:107180008-107180008

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1484A>C; p.K495T; 7:107200258-107200258

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.398G>C; p.R133T; 7:107182601-107182601

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1496C>T; p.P499L; 7:107200270-107200270

 skinmalignant_melanomaSubstitution - Missense

c.523C>T; p.P175S; 7:107185925-107185925

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.885G>C; p.E295D; 7:107189411-107189411

 skinmalignant_melanomaSubstitution - Missense

c.595G>A; p.D199N; 7:107186415-107186415

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.946T>C; p.L316L; 7:107190196-107190196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.126A>G; p.P42P; 7:107180019-107180019

 livercarcinomaSubstitution - coding silent

c.126A>G; p.P42P; 7:107180019-107180019

 livercarcinomaSubstitution - coding silent

c.693G>A; p.W231*; 7:107186609-107186609

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.917A>G; p.N306S; 7:107189443-107189443

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1502_1503insT; p.W502fs*>14; 7:107200276-107200277

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.880G>C; p.V294L; 7:107189406-107189406

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1127_1128delAG; p.Q376fs*22; 7:107195893-107195894

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.883G>C; p.E295Q; 7:107189409-107189409

 eye; uveal_tractmalignant_melanoma; mixedSubstitution - Missense

c.1522A>G; p.N508D; 7:107200296-107200296

 livercarcinomaSubstitution - Missense

c.1225T>A; p.S409T; 7:107195991-107195991

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.304A>G; p.T102A; 7:107182507-107182507

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.483T>C; p.S161S; 7:107185885-107185885

 kidneyother; neoplasmSubstitution - coding silent

c.822C>T; p.G274G; 7:107189348-107189348

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.820G>C; p.G274R; 7:107189346-107189346

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.563G>A; p.G188D; 7:107186383-107186383

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1491A>C; p.L497F; 7:107200265-107200265

 livercarcinomaSubstitution - Missense

c.476C>T; p.S159L; 7:107185878-107185878

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1513A>G; p.K505E; 7:107200287-107200287

 livercarcinomaSubstitution - Missense

c.1388C>G; p.A463G; 7:107200162-107200162

 breastcarcinomaSubstitution - Missense

c.589_591delGAT; p.D200delD; 7:107186409-107186411

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1360C>G; p.Q454E; 7:107196126-107196126

 central_nervous_system; braingliomaSubstitution - Missense

c.168T>C; p.L56L; 7:107180061-107180061

 skin; armmalignant_melanomaSubstitution - coding silent

c.36T>C; p.N12N; 7:107179929-107179929

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

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