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

Basic Information

Gene ID

22807

Name

IKZF2

Synonymous

IKAROS family zinc finger 2 (Helios);IKZF2;IKAROS family zinc finger 2 (Helios)

Definition

ikaros family zinc finger protein 2|zinc finger DNA binding protein Helios|zinc finger protein Helios|zinc finger protein, subfamily 1A, 2 (Helios)

Position

2q34

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 0.13.

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.857G>T; p.G286V; 2:213008084-213008084

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1558C>T; p.R520*; 2:213007383-213007383

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.63G>A; p.E21E; 2:213147784-213147784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1315G>A; p.E439K; 2:213007626-213007626

 NSmalignant_melanomaSubstitution - Missense

c.1531C>G; p.R511G; 2:213007410-213007410

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1109G>A; p.R370K; 2:213007832-213007832

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.343G>A; p.D115N; 2:213056896-213056896

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1440C>T; p.F480F; 2:213007501-213007501

 skinmalignant_melanomaSubstitution - coding silent

c.267G>A; p.E89E; 2:213056972-213056972

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.858G>A; p.G286G; 2:213008083-213008083

 skinmalignant_melanomaSubstitution - coding silent

c.304G>A; p.E102K; 2:213056935-213056935

 skinmalignant_melanomaSubstitution - Missense

c.304G>A; p.E102K; 2:213056935-213056935

 skinmalignant_melanomaSubstitution - Missense

c.960C>T; p.A320A; 2:213007981-213007981

 skinmalignant_melanomaSubstitution - coding silent

c.623G>A; p.R208H; 2:213022082-213022082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.623G>A; p.R208H; 2:213022082-213022082

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.943C>T; p.H315Y; 2:213007998-213007998

 skinmalignant_melanomaSubstitution - Missense

c.1086T>C; p.N362N; 2:213007855-213007855

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.131T>G; p.M44R; 2:213147716-213147716

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1075T>A; p.Y359N; 2:213007866-213007866

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1256C>T; p.S419F; 2:213007685-213007685

 skinmalignant_melanomaSubstitution - Missense

c.1033G>A; p.A345T; 2:213007908-213007908

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1366G>A; p.D456N; 2:213007575-213007575

 skinmalignant_melanomaSubstitution - Missense

c.1366G>A; p.D456N; 2:213007575-213007575

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.329G>T; p.G110V; 2:213056910-213056910

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1287G>C; p.K429N; 2:213007654-213007654

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.726A>G; p.E242E; 2:213013921-213013921

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1420G>C; p.E474Q; 2:213007521-213007521

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.58_59insT; p.R20fs*9; 2:213147788-213147789

 lungcarcinoid-endocrine_tumour; atypicalInsertion - Frameshift

c.488C>G; p.S163C; 2:213049799-213049799

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1032C>T; p.I344I; 2:213007909-213007909

 skinmalignant_melanomaSubstitution - coding silent

c.488C>G; p.S163C; 2:213049799-213049799

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.865C>T; p.L289F; 2:213008076-213008076

 skinmalignant_melanomaSubstitution - Missense

c.622C>T; p.R208C; 2:213022083-213022083

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.544G>A; p.A182T; 2:213049743-213049743

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.314T>A; p.I105N; 2:213056925-213056925

 genital_tract; extragonadalgerm_cell_tumour; mixedSubstitution - Missense

c.328G>T; p.G110C; 2:213056911-213056911

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1408_1412delGCCTT; p.A470fs*3; 2:213007529-213007533

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.1176A>T; p.R392R; 2:213007765-213007765

 livercarcinomaSubstitution - coding silent

c.903G>C; p.M301I; 2:213008038-213008038

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.517_521delTGTAG; p.C173fs*4; 2:213049766-213049770

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaDeletion - Frameshift

c.1004C>T; p.P335L; 2:213007937-213007937

 skinmalignant_melanomaSubstitution - Missense

c.696G>C; p.Q232H; 2:213022009-213022009

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.811G>A; p.G271R; 2:213013836-213013836

 NSmalignant_melanomaSubstitution - Missense

c.1198C>T; p.P400S; 2:213007743-213007743

 skinmalignant_melanomaSubstitution - Missense

c.1380C>A; p.V460V; 2:213007561-213007561

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1455G>A; p.M485I; 2:213007486-213007486

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1439T>C; p.F480S; 2:213007502-213007502

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.407-6C>T; p.?; 2:213049886-213049886

 livercarcinomaUnknown

c.407-6C>T; p.?; 2:213049886-213049886

 livercarcinomaUnknown

c.746C>A; p.P249H; 2:213013901-213013901

 livercarcinomaSubstitution - Missense

c.746C>A; p.P249H; 2:213013901-213013901

 livercarcinomaSubstitution - Missense

c.948G>A; p.M316I; 2:213007993-213007993

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.916G>A; p.E306K; 2:213008025-213008025

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.724G>A; p.E242K; 2:213013923-213013923

 livercarcinomaSubstitution - Missense

c.256G>A; p.E86K; 2:213056983-213056983

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.248C>T; p.P83L; 2:213056991-213056991

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.256G>A; p.E86K; 2:213056983-213056983

 skinmalignant_melanomaSubstitution - Missense

c.724G>A; p.E242K; 2:213013923-213013923

 livercarcinomaSubstitution - Missense

c.834C>A; p.S278R; 2:213013813-213013813

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1203C>A; p.S401R; 2:213007738-213007738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.726A>T; p.E242D; 2:213013921-213013921

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.696G>T; p.Q232H; 2:213022009-213022009

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.891T>C; p.I297I; 2:213008050-213008050

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1183G>A; p.E395K; 2:213007758-213007758

 skinmalignant_melanomaSubstitution - Missense

c.264C>T; p.S88S; 2:213056975-213056975

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.264C>T; p.S88S; 2:213056975-213056975

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.346G>A; p.V116I; 2:213056893-213056893

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1111G>A; p.E371K; 2:213007830-213007830

 skinmalignant_melanomaSubstitution - Missense

c.1120G>A; p.D374N; 2:213007821-213007821

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1544C>T; p.S515L; 2:213007397-213007397

 skinmalignant_melanomaSubstitution - Missense

c.1001A>G; p.H334R; 2:213007940-213007940

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1231G>C; p.E411Q; 2:213007710-213007710

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.60G>A; p.R20R; 2:213147787-213147787

 skinmalignant_melanomaSubstitution - coding silent

c.1489G>A; p.D497N; 2:213007452-213007452

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1079A>T; p.H360L; 2:213007862-213007862

 breastcarcinomaSubstitution - Missense

c.767C>A; p.S256Y; 2:213013880-213013880

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.445T>A; p.F149I; 2:213049842-213049842

 skinmalignant_melanomaSubstitution - Missense

c.767C>A; p.S256Y; 2:213013880-213013880

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.300A>C; p.Q100H; 2:213056939-213056939

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.458G>A; p.G153D; 2:213049829-213049829

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.272C>T; p.A91V; 2:213056967-213056967

 haematopoietic_and_lymphoid_tissue; skinhaematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasmSubstitution - Missense

c.14C>T; p.A5V; 2:213148616-213148616

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1465C>T; p.H489Y; 2:213007476-213007476

 skinmalignant_melanomaSubstitution - Missense

c.1415delA; p.K472fs*10; 2:213007526-213007526

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.336G>A; p.L112L; 2:213056903-213056903

 skinmalignant_melanomaSubstitution - coding silent

c.54C>T; p.P18P; 2:213147793-213147793

 skinmalignant_melanomaSubstitution - coding silent

c.303C>T; p.G101G; 2:213056936-213056936

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.738A>G; p.E246E; 2:213013909-213013909

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1387G>T; p.G463*; 2:213007554-213007554

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1321G>T; p.V441F; 2:213007620-213007620

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.516C>A; p.F172L; 2:213049771-213049771

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1018C>G; p.P340A; 2:213007923-213007923

 kidneyother; neoplasmSubstitution - Missense

c.1020G>A; p.P340P; 2:213007921-213007921

 breastcarcinomaSubstitution - coding silent

c.1542T>C; p.F514F; 2:213007399-213007399

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.928G>A; p.E310K; 2:213008013-213008013

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.875T>C; p.F292S; 2:213008066-213008066

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1287G>T; p.K429N; 2:213007654-213007654

 skinmalignant_melanomaSubstitution - Missense

c.1017C>T; p.H339H; 2:213007924-213007924

 kidneyother; neoplasmSubstitution - coding silent

c.1471G>T; p.G491C; 2:213007470-213007470

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1470G>T; p.M490I; 2:213007471-213007471

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.769C>A; p.L257M; 2:213013878-213013878

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.904A>G; p.N302D; 2:213008037-213008037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.294G>A; p.E98E; 2:213056945-213056945

 skinmalignant_melanomaSubstitution - coding silent

c.1298G>T; p.S433I; 2:213007643-213007643

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.463C>T; p.L155F; 2:213049824-213049824

 skinmalignant_melanomaSubstitution - Missense

c.799G>T; p.E267*; 2:213013848-213013848

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.871C>T; p.R291*; 2:213008070-213008070

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.561C>T; p.L187L; 2:213049726-213049726

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.561C>T; p.L187L; 2:213049726-213049726

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.75G>T; p.M25I; 2:213147772-213147772

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.871C>T; p.R291*; 2:213008070-213008070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1562G>A; p.G521E; 2:213007379-213007379

 skinmalignant_melanomaSubstitution - Missense

c.1248C>T; p.D416D; 2:213007693-213007693

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.806T>A; p.L269H; 2:213013841-213013841

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.125G>A; p.S42N; 2:213147722-213147722

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.575-2A>T; p.?; 2:213022132-213022132

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1165C>A; p.P389T; 2:213007776-213007776

 breastcarcinomaSubstitution - Missense

c.1265G>A; p.G422E; 2:213007676-213007676

 skinmalignant_melanomaSubstitution - Missense

c.1289G>T; p.R430M; 2:213007652-213007652

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1078C>T; p.H360Y; 2:213007863-213007863

 skinmalignant_melanomaSubstitution - Missense

c.252A>T; p.L84L; 2:213056987-213056987

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.244G>A; p.E82K; 2:213056995-213056995

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.996C>T; p.A332A; 2:213007945-213007945

 skinmalignant_melanomaSubstitution - coding silent

c.996C>T; p.A332A; 2:213007945-213007945

 skinmalignant_melanomaSubstitution - coding silent

c.288C>G; p.V96V; 2:213056951-213056951

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1401G>A; p.Q467Q; 2:213007540-213007540

 skinmalignant_melanomaSubstitution - coding silent

c.1166C>A; p.P389Q; 2:213007775-213007775

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.633G>C; p.L211L; 2:213022072-213022072

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.716C>T; p.P239L; 2:213013931-213013931

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1174C>T; p.R392*; 2:213007767-213007767

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1008G>C; p.L336L; 2:213007933-213007933

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.324G>A; p.P108P; 2:213056915-213056915

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.541G>A; p.D181N; 2:213049746-213049746

 skinmalignant_melanomaSubstitution - Missense

c.574G>T; p.V192L; 2:213049713-213049713

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1269C>G; p.H423Q; 2:213007672-213007672

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.821G>A; p.G274E; 2:213013826-213013826

 skinmalignant_melanomaSubstitution - Missense

c.237C>T; p.S79S; 2:213057002-213057002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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