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

Basic Information

Gene ID

80012

Name

PHC3

Synonymous

polyhomeotic homolog 3 (Drosophila);PHC3;polyhomeotic homolog 3 (Drosophila)

Definition

early development regulator 3|early development regulatory protein 3|homolog of polyhomeotic 3|polyhomeotic like 3|polyhomeotic-like protein 3

Position

3q26.2

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.16.

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.68C>T; p.T23I; 3:170178849-170178849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.980C>T; p.P327L; 3:170129399-170129399

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.136G>A; p.A46T; 3:170178781-170178781

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1576G>T; p.E526*; 3:170128803-170128803

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2474C>T; p.P825L; 3:170102836-170102836

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2257G>A; p.E753K; 3:170113363-170113363

 breastcarcinomaSubstitution - Missense

c.1010A>C; p.Q337P; 3:170129369-170129369

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2375+2T>C; p.?; 3:170106830-170106830

 skinmalignant_melanomaUnknown

c.190T>C; p.Y64H; 3:170172667-170172667

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.985C>A; p.P329T; 3:170129394-170129394

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.599G>A; p.R200H; 3:170136646-170136646

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1231C>G; p.L411V; 3:170129148-170129148

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1810G>A; p.G604R; 3:170122630-170122630

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1940C>T; p.P647L; 3:170117386-170117386

 skinmalignant_melanomaSubstitution - Missense

c.1362C>T; p.A454A; 3:170129017-170129017

 breastcarcinomaSubstitution - coding silent

c.1691C>T; p.P564L; 3:170128688-170128688

 skinmalignant_melanomaSubstitution - Missense

c.159A>G; p.A53A; 3:170172698-170172698

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2601C>T; p.S867S; 3:170102618-170102618

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1288delC; p.Q430fs*2; 3:170129091-170129091

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1845G>C; p.L615F; 3:170122595-170122595

 ovaryother; neoplasmSubstitution - Missense

c.2869C>T; p.R957C; 3:170097256-170097256

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2182G>A; p.V728I; 3:170113438-170113438

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2461C>T; p.R821C; 3:170102849-170102849

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1376G>A; p.G459D; 3:170129003-170129003

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1A>G; p.M1V; 3:170178916-170178916

 livercarcinomaSubstitution - Missense

c.2877_2889del13; p.S960fs?; 3:170097236-170097248

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.1324T>C; p.S442P; 3:170129055-170129055

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2280C>A; p.D760E; 3:170106927-170106927

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2366G>T; p.C789F; 3:170106841-170106841

 kidneyother; neoplasmSubstitution - Missense

c.2591G>A; p.R864H; 3:170102628-170102628

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1990A>T; p.S664C; 3:170117336-170117336

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.519G>A; p.Q173Q; 3:170145483-170145483

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.131G>A; p.R44Q; 3:170178786-170178786

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.602G>T; p.S201I; 3:170136643-170136643

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2103G>A; p.V701V; 3:170113517-170113517

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1399C>G; p.H467D; 3:170128980-170128980

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1466C>T; p.S489F; 3:170128913-170128913

 skinmalignant_melanomaSubstitution - Missense

c.2811_2813delAGA; p.E937delE; 3:170097312-170097314

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2531C>T; p.A844V; 3:170102688-170102688

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.167G>A; p.R56Q; 3:170172690-170172690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2754C>T; p.I918I; 3:170097371-170097371

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1163G>A; p.S388N; 3:170129216-170129216

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.495C>T; p.P165P; 3:170145507-170145507

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1611G>A; p.Q537Q; 3:170128768-170128768

 livercarcinomaSubstitution - coding silent

c.2585G>A; p.R862H; 3:170102634-170102634

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.127G>T; p.D43Y; 3:170178790-170178790

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1446T>G; p.S482R; 3:170128933-170128933

 livercarcinomaSubstitution - Missense

c.1446T>G; p.S482R; 3:170128933-170128933

 livercarcinomaSubstitution - Missense

c.1825T>G; p.L609V; 3:170122615-170122615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1432A>G; p.I478V; 3:170128947-170128947

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.990C>T; p.S330S; 3:170129389-170129389

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.176G>A; p.S59N; 3:170172681-170172681

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.176G>A; p.S59N; 3:170172681-170172681

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.512_513delCT; p.A171fs*4; 3:170145489-170145490

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.854C>G; p.S285C; 3:170129525-170129525

 breastcarcinomaSubstitution - Missense

c.562C>T; p.Q188*; 3:170145440-170145440

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1731G>A; p.M577I; 3:170122709-170122709

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1670C>T; p.P557L; 3:170128709-170128709

 skinmalignant_melanomaSubstitution - Missense

c.1817G>A; p.G606E; 3:170122623-170122623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2627G>A; p.R876Q; 3:170102592-170102592

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.234G>A; p.L78L; 3:170172623-170172623

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.298C>T; p.Q100*; 3:170172559-170172559

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2787A>G; p.G929G; 3:170097338-170097338

 central_nervous_system; braingliomaSubstitution - coding silent

c.494C>T; p.P165L; 3:170145508-170145508

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1850-3C>T; p.?; 3:170117479-170117479

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2253T>C; p.I751I; 3:170113367-170113367

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2275A>G; p.M759V; 3:170106932-170106932

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1849+10T>C; p.?; 3:170122581-170122581

 pancreascarcinomaUnknown

c.1545C>A; p.G515G; 3:170128834-170128834

 breastcarcinomaSubstitution - coding silent

c.2707G>C; p.D903H; 3:170102512-170102512

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2820C>G; p.L940L; 3:170097305-170097305

 breastcarcinomaSubstitution - coding silent

c.1790C>T; p.S597F; 3:170122650-170122650

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1559A>G; p.Q520R; 3:170128820-170128820

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1574C>T; p.S525L; 3:170128805-170128805

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.958C>A; p.L320I; 3:170129421-170129421

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1417C>A; p.L473M; 3:170128962-170128962

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2809G>T; p.E937*; 3:170097316-170097316

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.125C>T; p.S42L; 3:170178792-170178792

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2219A>T; p.D740V; 3:170113401-170113401

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.59_70del12; p.T20_T23delTTTT; 3:170178847-170178858

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.1558C>T; p.Q520*; 3:170128821-170128821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2487G>A; p.A829A; 3:170102823-170102823

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1040A>G; p.N347S; 3:170129339-170129339

 haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.2376-10A>T; p.?; 3:170102944-170102944

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.899A>C; p.K300T; 3:170129480-170129480

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1757G>A; p.R586Q; 3:170122683-170122683

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.57C>A; p.T19T; 3:170178860-170178860

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.913C>T; p.Q305*; 3:170129466-170129466

 breastcarcinomaSubstitution - Nonsense

c.2500C>T; p.L834F; 3:170102810-170102810

 skinmalignant_melanomaSubstitution - Missense

c.979C>A; p.P327T; 3:170129400-170129400

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1779_1781delACC; p.P594delP; 3:170122659-170122661

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1560G>A; p.Q520Q; 3:170128819-170128819

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.952A>G; p.I318V; 3:170129427-170129427

 breastcarcinomaSubstitution - Missense

c.1560G>A; p.Q520Q; 3:170128819-170128819

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.459A>C; p.Q153H; 3:170149107-170149107

 skinmalignant_melanomaSubstitution - Missense

c.1631C>G; p.P544R; 3:170128748-170128748

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.734C>T; p.P245L; 3:170136511-170136511

 skinmalignant_melanomaSubstitution - Missense

c.627C>G; p.S209R; 3:170136618-170136618

 breastcarcinomaSubstitution - Missense

c.2067C>T; p.G689G; 3:170117259-170117259

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2067C>T; p.G689G; 3:170117259-170117259

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2143C>A; p.R715R; 3:170113477-170113477

 skinmalignant_melanomaSubstitution - coding silent

c.341G>T; p.G114V; 3:170171410-170171410

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2852C>T; p.A951V; 3:170097273-170097273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2334T>G; p.F778L; 3:170106873-170106873

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.512C>T; p.A171V; 3:170145490-170145490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2019T>C; p.P673P; 3:170117307-170117307

 central_nervous_system; braingliomaSubstitution - coding silent

c.557C>T; p.S186F; 3:170145445-170145445

 skinmalignant_melanomaSubstitution - Missense

c.1436C>T; p.P479L; 3:170128943-170128943

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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