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

Basic Information

Gene ID

84632

Name

AFAP1L2

Synonymous

actin filament associated protein 1-like 2;AFAP1L2;actin filament associated protein 1-like 2

Definition

AFAP1-like protein 2|CTB-1144G6.6|actin filament-associated protein 1-like 2

Position

10q25.3

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 0.12.

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.1729G>T; p.G577C; 10:114300504-114300504

 livercarcinomaSubstitution - Missense

c.1729G>T; p.G577C; 10:114300504-114300504

 livercarcinomaSubstitution - Missense

c.435C>T; p.Y145Y; 10:114315737-114315737

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.645G>T; p.Q215H; 10:114314018-114314018

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1387G>A; p.D463N; 10:114302382-114302382

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.51C>T; p.F17F; 10:114340697-114340697

 skinmalignant_melanomaSubstitution - coding silent

c.1605A>G; p.R535R; 10:114300628-114300628

 thyroidother; neoplasmSubstitution - coding silent

c.51C>T; p.F17F; 10:114340697-114340697

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1837G>A; p.V613I; 10:114300314-114300314

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.37G>T; p.E13*; 10:114340711-114340711

 breastcarcinomaSubstitution - Nonsense

c.2098C>T; p.L700L; 10:114299275-114299275

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1220C>T; p.P407L; 10:114304783-114304783

 skinmalignant_melanomaSubstitution - Missense

c.1063G>A; p.E355K; 10:114307814-114307814

 skinmalignant_melanomaSubstitution - Missense

c.1239C>G; p.Y413*; 10:114304764-114304764

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1063G>A; p.E355K; 10:114307814-114307814

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1063G>A; p.E355K; 10:114307814-114307814

 skinmalignant_melanomaSubstitution - Missense

c.1063G>A; p.E355K; 10:114307814-114307814

 skinmalignant_melanomaSubstitution - Missense

c.1560A>C; p.E520D; 10:114300673-114300673

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.224C>T; p.P75L; 10:114331894-114331894

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2438A>T; p.E813V; 10:114296061-114296061

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1541C>A; p.A514E; 10:114301355-114301355

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1386C>T; p.A462A; 10:114302383-114302383

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.567_569delACA; p.Q190delQ; 10:114315603-114315605

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - In frame

c.1925C>A; p.P642H; 10:114300226-114300226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.903C>T; p.Y301Y; 10:114308497-114308497

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.826G>T; p.G276*; 10:114310410-114310410

 breastcarcinomaSubstitution - Nonsense

c.1175C>A; p.A392D; 10:114304828-114304828

 thyroidother; neoplasmSubstitution - Missense

c.672C>T; p.S224S; 10:114313991-114313991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1676_1677CC>TT; p.S559F; 10:114300556-114300557

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.483C>A; p.Y161*; 10:114315689-114315689

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2137G>A; p.E713K; 10:114297390-114297390

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1414G>A; p.A472T; 10:114302355-114302355

 prostatecarcinomaSubstitution - Missense

c.340A>C; p.I114L; 10:114323237-114323237

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1493G>A; p.R498H; 10:114301403-114301403

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.968-5G>C; p.?; 10:114307914-114307914

 livercarcinomaUnknown

c.968-5G>C; p.?; 10:114307914-114307914

 livercarcinomaUnknown

c.1816C>T; p.P606S; 10:114300335-114300335

 skinmalignant_melanomaSubstitution - Missense

c.2436G>A; p.W812*; 10:114296063-114296063

 skinmalignant_melanomaSubstitution - Nonsense

c.593T>C; p.I198T; 10:114315579-114315579

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1981A>T; p.T661S; 10:114299392-114299392

 thyroidother; neoplasmSubstitution - Missense

c.301C>T; p.P101S; 10:114331817-114331817

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.530G>A; p.R177H; 10:114315642-114315642

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.121C>T; p.L41F; 10:114340627-114340627

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.18_19CC>TT; p.(=); 10:114340729-114340730

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2330C>T; p.S777F; 10:114297078-114297078

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1048G>C; p.V350L; 10:114307829-114307829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2081G>A; p.R694Q; 10:114299292-114299292

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1127G>C; p.R376T; 10:114304876-114304876

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1629C>T; p.V543V; 10:114300604-114300604

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1629C>T; p.V543V; 10:114300604-114300604

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.754G>T; p.G252C; 10:114313909-114313909

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.113C>T; p.A38V; 10:114340635-114340635

 prostatecarcinomaSubstitution - Missense

c.773A>G; p.Q258R; 10:114313890-114313890

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.113C>T; p.A38V; 10:114340635-114340635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1553C>T; p.T518I; 10:114300680-114300680

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.726G>A; p.T242T; 10:114313937-114313937

 thyroidother; neoplasmSubstitution - coding silent

c.209C>T; p.S70F; 10:114333232-114333232

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.P115S; 10:114323234-114323234

 skinmalignant_melanomaSubstitution - Missense

c.1850C>T; p.T617M; 10:114300301-114300301

 central_nervous_system; braingliomaSubstitution - Missense

c.343C>T; p.P115S; 10:114323234-114323234

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.737C>T; p.A246V; 10:114313926-114313926

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.320C>T; p.P107L; 10:114323257-114323257

 livercarcinomaSubstitution - Missense

c.835G>A; p.E279K; 10:114310401-114310401

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.835G>A; p.E279K; 10:114310401-114310401

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2043A>G; p.E681E; 10:114299330-114299330

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1971C>T; p.G657G; 10:114299402-114299402

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1464T>C; p.T488T; 10:114301432-114301432

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.515T>C; p.L172P; 10:114315657-114315657

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.146-7T>C; p.?; 10:114333302-114333302

 livercarcinomaUnknown

c.146-7T>C; p.?; 10:114333302-114333302

 livercarcinoma; hepatocellular_carcinomaUnknown

c.1080G>A; p.L360L; 10:114304923-114304923

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.853C>A; p.P285T; 10:114310383-114310383

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1836C>T; p.T612T; 10:114300315-114300315

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2349A>G; p.P783P; 10:114297059-114297059

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1749T>A; p.D583E; 10:114300484-114300484

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1470C>T; p.I490I; 10:114301426-114301426

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.446A>G; p.D149G; 10:114315726-114315726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1470C>T; p.I490I; 10:114301426-114301426

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1391G>T; p.R464M; 10:114302378-114302378

 pancreascarcinomaSubstitution - Missense

c.1391G>T; p.R464M; 10:114302378-114302378

 pancreascarcinomaSubstitution - Missense

c.879G>A; p.Q293Q; 10:114310357-114310357

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2387C>T; p.S796L; 10:114297021-114297021

 skinmalignant_melanomaSubstitution - Missense

c.993C>G; p.L331L; 10:114307884-114307884

 thyroidcarcinomaSubstitution - coding silent

c.654G>A; p.V218V; 10:114314009-114314009

 skinmalignant_melanomaSubstitution - coding silent

c.811G>A; p.G271S; 10:114310425-114310425

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2190C>T; p.R730R; 10:114297337-114297337

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2027A>G; p.E676G; 10:114299346-114299346

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2237A>G; p.K746R; 10:114297290-114297290

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1866C>G; p.I622M; 10:114300285-114300285

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.159G>C; p.E53D; 10:114333282-114333282

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.944C>A; p.P315H; 10:114308456-114308456

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.497C>T; p.P166L; 10:114315675-114315675

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1412C>T; p.A471V; 10:114302357-114302357

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - Missense

c.2279C>G; p.T760S; 10:114297248-114297248

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.621A>G; p.K207K; 10:114314042-114314042

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.621A>G; p.K207K; 10:114314042-114314042

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.20T>C; p.L7P; 10:114340728-114340728

 oesophaguscarcinomaSubstitution - Missense

c.1251C>T; p.I417I; 10:114304752-114304752

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1471G>A; p.D491N; 10:114301425-114301425

 skinmalignant_melanomaSubstitution - Missense

c.1471G>A; p.D491N; 10:114301425-114301425

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2219T>G; p.V740G; 10:114297308-114297308

 pancreascarcinomaSubstitution - Missense

c.182C>A; p.T61N; 10:114333259-114333259

 skinmalignant_melanomaSubstitution - Missense

c.1241C>T; p.S414F; 10:114304762-114304762

 skinmalignant_melanomaSubstitution - Missense

c.1682C>T; p.T561M; 10:114300551-114300551

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1300G>A; p.E434K; 10:114302469-114302469

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2258C>T; p.T753M; 10:114297269-114297269

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2249_2250GG>AA; p.G750E; 10:114297277-114297278

 skinmalignant_melanomaSubstitution - Missense

c.2249_2250GG>AA; p.G750E; 10:114297277-114297278

 skinmalignant_melanomaSubstitution - Missense

c.1485C>T; p.S495S; 10:114301411-114301411

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1711G>A; p.A571T; 10:114300522-114300522

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1058C>A; p.S353Y; 10:114307819-114307819

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1672T>C; p.S558P; 10:114300561-114300561

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.537C>T; p.C179C; 10:114315635-114315635

 livercarcinomaSubstitution - coding silent

c.537C>T; p.C179C; 10:114315635-114315635

 livercarcinomaSubstitution - coding silent

c.2188C>T; p.R730C; 10:114297339-114297339

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1757G>A; p.C586Y; 10:114300476-114300476

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1757G>A; p.C586Y; 10:114300476-114300476

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2129C>T; p.A710V; 10:114297398-114297398

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2189G>A; p.R730H; 10:114297338-114297338

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1295C>T; p.S432F; 10:114302474-114302474

 skinmalignant_melanomaSubstitution - Missense

c.2189G>A; p.R730H; 10:114297338-114297338

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.337G>C; p.A113P; 10:114323240-114323240

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1377T>C; p.Y459Y; 10:114302392-114302392

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.1374C>T; p.D458D; 10:114302395-114302395

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.226G>A; p.E76K; 10:114331892-114331892

 skinmalignant_melanomaSubstitution - Missense

c.753G>T; p.L251L; 10:114313910-114313910

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2257A>C; p.T753P; 10:114297270-114297270

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.150T>A; p.S50S; 10:114333291-114333291

 livercarcinomaSubstitution - coding silent

c.798C>A; p.I266I; 10:114310438-114310438

 kidneyother; neoplasmSubstitution - coding silent

c.1492C>T; p.R498C; 10:114301404-114301404

 skinmalignant_melanomaSubstitution - Missense

c.150T>A; p.S50S; 10:114333291-114333291

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2454T>C; p.S818S; 10:114296045-114296045

 skinmalignant_melanomaSubstitution - coding silent

c.931G>T; p.V311L; 10:114308469-114308469

 breastcarcinomaSubstitution - Missense

c.1885C>T; p.P629S; 10:114300266-114300266

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1568C>T; p.P523L; 10:114300665-114300665

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.699G>A; p.R233R; 10:114313964-114313964

 skinmalignant_melanomaSubstitution - coding silent

c.1824G>T; p.L608L; 10:114300327-114300327

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2068C>T; p.R690W; 10:114299305-114299305

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2068C>T; p.R690W; 10:114299305-114299305

 skinmalignant_melanomaSubstitution - Missense

c.1727C>G; p.S576*; 10:114300506-114300506

 breastcarcinomaSubstitution - Nonsense

c.504C>T; p.A168A; 10:114315668-114315668

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

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