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

Basic Information

Gene ID

27132

Name

CPNE7

Synonymous

copine VII;CPNE7;copine VII

Definition

copine 7|copine-7

Position

16q24.3

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

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

Top

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 0.04.

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.677C>T; p.S226L; 16:89584047-89584047

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1535A>G; p.Y512C; 16:89595374-89595374

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.784G>A; p.D262N; 16:89584825-89584825

 skinmalignant_melanomaSubstitution - Missense

c.198G>C; p.R66R; 16:89577562-89577562

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1622C>G; p.S541C; 16:89595461-89595461

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.702C>T; p.L234L; 16:89584072-89584072

 skinmalignant_melanomaSubstitution - coding silent

c.781G>A; p.D261N; 16:89584822-89584822

 skinmalignant_melanomaSubstitution - Missense

c.1049G>A; p.R350H; 16:89586713-89586713

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.454G>A; p.E152K; 16:89578953-89578953

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1897C>T; p.P633S; 16:89596616-89596616

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.675C>A; p.I225I; 16:89584045-89584045

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1824G>A; p.E608E; 16:89596543-89596543

 skinmalignant_melanomaSubstitution - coding silent

c.654C>T; p.I218I; 16:89583768-89583768

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1873G>A; p.G625R; 16:89596592-89596592

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1705C>T; p.R569W; 16:89595544-89595544

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1503C>T; p.A501A; 16:89591236-89591236

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1414G>A; p.A472T; 16:89591147-89591147

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1414G>A; p.A472T; 16:89591147-89591147

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.880A>T; p.S294C; 16:89585527-89585527

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.288G>A; p.T96T; 16:89577652-89577652

 pancreascarcinomaSubstitution - coding silent

c.1380C>T; p.D460D; 16:89591045-89591045

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1630A>G; p.I544V; 16:89595469-89595469

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1886C>A; p.P629Q; 16:89596605-89596605

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1732G>A; p.V578I; 16:89595571-89595571

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.255G>T; p.E85D; 16:89577619-89577619

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.716G>A; p.R239K; 16:89584086-89584086

 skin; neckmalignant_melanomaSubstitution - Missense

c.1874G>T; p.G625V; 16:89596593-89596593

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.445T>C; p.C149R; 16:89578944-89578944

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1288G>T; p.D430Y; 16:89589898-89589898

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1791C>A; p.C597*; 16:89596510-89596510

 breastcarcinomaSubstitution - Nonsense

c.1791C>A; p.C597*; 16:89596510-89596510

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.814G>A; p.E272K; 16:89584855-89584855

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1380C>A; p.D460E; 16:89591045-89591045

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.525G>A; p.A175A; 16:89583471-89583471

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1643G>T; p.G548V; 16:89595482-89595482

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1321C>G; p.R441G; 16:89589931-89589931

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.327C>T; p.F109F; 16:89577691-89577691

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.327C>T; p.F109F; 16:89577691-89577691

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1006-1G>T; p.?; 16:89586669-89586669

 pancreascarcinomaUnknown

c.1133G>A; p.G378D; 16:89587083-89587083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.335G>A; p.G112D; 16:89577699-89577699

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1011G>A; p.Q337Q; 16:89586675-89586675

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1724G>A; p.R575Q; 16:89595563-89595563

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1204C>T; p.L402L; 16:89588726-89588726

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1714C>T; p.P572S; 16:89595553-89595553

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1863T>C; p.G621G; 16:89596582-89596582

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1863T>C; p.G621G; 16:89596582-89596582

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.213C>T; p.P71P; 16:89577577-89577577

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1740C>T; p.F580F; 16:89595579-89595579

 skinmalignant_melanomaSubstitution - coding silent

c.1100G>T; p.R367M; 16:89587050-89587050

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1230G>A; p.P410P; 16:89588752-89588752

 skinmalignant_melanomaSubstitution - coding silent

c.153G>A; p.Q51Q; 16:89576050-89576050

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.153G>A; p.Q51Q; 16:89576050-89576050

 thyroidother; neoplasmSubstitution - coding silent

c.612G>A; p.P204P; 16:89583726-89583726

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.796C>T; p.Q266*; 16:89584837-89584837

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1126A>T; p.M376L; 16:89587076-89587076

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1609C>T; p.R537C; 16:89595448-89595448

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.376C>T; p.L126L; 16:89578875-89578875

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.717G>A; p.R239R; 16:89584087-89584087

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1322G>A; p.R441Q; 16:89589932-89589932

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1251G>A; p.L417L; 16:89588773-89588773

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1322G>A; p.R441Q; 16:89589932-89589932

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.263G>T; p.R88M; 16:89577627-89577627

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1570G>A; p.D524N; 16:89595409-89595409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1024A>T; p.N342Y; 16:89586688-89586688

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1203C>T; p.S401S; 16:89588725-89588725

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1161T>C; p.I387I; 16:89588683-89588683

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1589A>G; p.E530G; 16:89595428-89595428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.400G>T; p.V134F; 16:89578899-89578899

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.268C>T; p.R90C; 16:89577632-89577632

 breastcarcinomaSubstitution - Missense

c.1398C>T; p.I466I; 16:89591131-89591131

 skinmalignant_melanomaSubstitution - coding silent

c.888G>A; p.E296E; 16:89585535-89585535

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.497G>A; p.R166K; 16:89578996-89578996

 skinmalignant_melanomaSubstitution - Missense

c.475A>T; p.T159S; 16:89578974-89578974

 skinmalignant_melanomaSubstitution - Missense

c.80G>T; p.R27L; 16:89575977-89575977

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1316G>A; p.G439E; 16:89589926-89589926

 skinmalignant_melanomaSubstitution - Missense

c.593A>G; p.Q198R; 16:89583707-89583707

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1790G>T; p.C597F; 16:89596509-89596509

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1504G>A; p.E502K; 16:89591237-89591237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.585T>A; p.I195I; 16:89583699-89583699

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1200_1201insT; p.S401fs*28; 16:89588722-89588723

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourInsertion - Frameshift

c.1381G>A; p.D461N; 16:89591046-89591046

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1403G>A; p.G468D; 16:89591136-89591136

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.269G>A; p.R90H; 16:89577633-89577633

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.611C>T; p.P204L; 16:89583725-89583725

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1189C>T; p.R397W; 16:89588711-89588711

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.943G>A; p.D315N; 16:89585723-89585723

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1672C>T; p.L558L; 16:89595511-89595511

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1750C>T; p.R584W; 16:89595589-89595589

 skinmalignant_melanomaSubstitution - Missense

c.1688G>C; p.G563A; 16:89595527-89595527

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.852C>A; p.A284A; 16:89585499-89585499

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1450G>A; p.G484S; 16:89591183-89591183

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1152C>T; p.T384T; 16:89587102-89587102

 skinmalignant_melanomaSubstitution - coding silent

c.481C>T; p.P161S; 16:89578980-89578980

 skinmalignant_melanomaSubstitution - Missense

c.481C>T; p.P161S; 16:89578980-89578980

 skinmalignant_melanomaSubstitution - Missense

c.763_764GA>TC; p.E255S; 16:89584804-89584805

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1898C>T; p.P633L; 16:89596617-89596617

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1898C>T; p.P633L; 16:89596617-89596617

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1898C>T; p.P633L; 16:89596617-89596617

 breastcarcinomaSubstitution - Missense

c.783C>T; p.D261D; 16:89584824-89584824

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.369G>A; p.K123K; 16:89578868-89578868

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1753G>T; p.E585*; 16:89595592-89595592

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.385G>A; p.V129M; 16:89578884-89578884

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.23G>A; p.G8E; 16:89575920-89575920

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1393G>A; p.G465S; 16:89591058-89591058

 skinmalignant_melanomaSubstitution - Missense

c.270C>T; p.R90R; 16:89577634-89577634

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1777G>T; p.A593S; 16:89596496-89596496

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1638C>T; p.G546G; 16:89595477-89595477

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.964delA; p.T322fs*20; 16:89585744-89585744

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1686C>T; p.D562D; 16:89595525-89595525

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.201C>A; p.S67R; 16:89577565-89577565

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1591G>A; p.A531T; 16:89595430-89595430

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.569C>T; p.T190M; 16:89583515-89583515

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1690G>A; p.V564I; 16:89595529-89595529

 skinmalignant_melanomaSubstitution - Missense

c.727G>A; p.D243N; 16:89584097-89584097

 skinmalignant_melanomaSubstitution - Missense

c.1849C>A; p.P617T; 16:89596568-89596568

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1092+9T>A; p.?; 16:89586765-89586765

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1633G>A; p.V545M; 16:89595472-89595472

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1633G>A; p.V545M; 16:89595472-89595472

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1009C>T; p.Q337*; 16:89586673-89586673

 skinmalignant_melanomaSubstitution - Nonsense

c.1633G>A; p.V545M; 16:89595472-89595472

 large_intestine; coloncarcinomaSubstitution - Missense

c.1633G>A; p.V545M; 16:89595472-89595472

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.705C>T; p.S235S; 16:89584075-89584075

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

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