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

Basic Information

Gene ID

51474

Name

LIMA1

Synonymous

LIM domain and actin binding 1;LIMA1;LIM domain and actin binding 1

Definition

1110021C24Rik|LIM domain and actin-binding protein 1|epithelial protein lost in neoplasm beta|sterol regulatory element binding protein 3

Position

12q13

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 0.23.

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.171C>T; p.T57T; 12:50222480-50222480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.73C>G; p.L25V; 12:50248679-50248679

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2248C>T; p.R750W; 12:50177096-50177096

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2248C>T; p.R750W; 12:50177096-50177096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1170C>T; p.C390C; 12:50182008-50182008

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.570T>A; p.Y190*; 12:50222081-50222081

 prostatecarcinomaSubstitution - Nonsense

c.286G>T; p.E96*; 12:50222365-50222365

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2035C>G; p.L679V; 12:50177309-50177309

 breastcarcinomaSubstitution - Missense

c.2201G>T; p.G734V; 12:50177143-50177143

 thyroidother; neoplasmSubstitution - Missense

c.1018G>A; p.E340K; 12:50195842-50195842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1018G>A; p.E340K; 12:50195842-50195842

 oesophagus; upper_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.920A>T; p.E307V; 12:50200829-50200829

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1509C>A; p.V503V; 12:50177835-50177835

 breastcarcinomaSubstitution - coding silent

c.930C>T; p.P310P; 12:50200819-50200819

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.503C>T; p.S168F; 12:50222148-50222148

 skinmalignant_melanomaSubstitution - Missense

c.508C>T; p.H170Y; 12:50222143-50222143

 thyroidother; neoplasmSubstitution - Missense

c.2220C>G; p.L740L; 12:50177124-50177124

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1819delA; p.T607fs*74; 12:50177525-50177525

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2220C>G; p.L740L; 12:50177124-50177124

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1916C>T; p.A639V; 12:50177428-50177428

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.574G>A; p.V192I; 12:50222077-50222077

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.358C>A; p.Q120K; 12:50222293-50222293

 breastcarcinomaSubstitution - Missense

c.419G>A; p.G140D; 12:50222232-50222232

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.788C>A; p.S263*; 12:50204628-50204628

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.26G>A; p.R9Q; 12:50248726-50248726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.256C>T; p.H86Y; 12:50222395-50222395

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.26G>A; p.R9Q; 12:50248726-50248726

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.256C>T; p.H86Y; 12:50222395-50222395

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.26G>A; p.R9Q; 12:50248726-50248726

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1208T>C; p.L403P; 12:50181970-50181970

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1509C>T; p.V503V; 12:50177835-50177835

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1406delA; p.N469fs*25; 12:50177938-50177938

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1030+1G>A; p.?; 12:50195829-50195829

 lungcarcinoma; adenocarcinomaUnknown

c.1713C>G; p.V571V; 12:50177631-50177631

 prostatecarcinomaSubstitution - coding silent

c.996G>A; p.L332L; 12:50195864-50195864

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1489C>T; p.P497S; 12:50177855-50177855

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2050G>A; p.A684T; 12:50177294-50177294

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.254C>T; p.S85F; 12:50222397-50222397

 NSNSSubstitution - Missense

c.1274+1G>T; p.?; 12:50181903-50181903

 lungcarcinoma; adenocarcinomaUnknown

c.733A>G; p.T245A; 12:50204683-50204683

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2152G>T; p.E718*; 12:50177192-50177192

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1371G>A; p.G457G; 12:50177973-50177973

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.64G>T; p.E22*; 12:50248688-50248688

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.64G>T; p.E22*; 12:50248688-50248688

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1770A>G; p.P590P; 12:50177574-50177574

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2243G>T; p.R748I; 12:50177101-50177101

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.609A>C; p.K203N; 12:50222042-50222042

 thyroidother; neoplasmSubstitution - Missense

c.1969G>T; p.E657*; 12:50177375-50177375

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.83A>G; p.K28R; 12:50248669-50248669

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1094C>T; p.S365F; 12:50192498-50192498

 central_nervous_system; braingliomaSubstitution - Missense

c.1395G>A; p.W465*; 12:50177949-50177949

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1940A>G; p.N647S; 12:50177404-50177404

 breastcarcinomaSubstitution - Missense

c.481_482insA; p.M161fs*11; 12:50222169-50222170

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedInsertion - Frameshift

c.481_482insA; p.M161fs*11; 12:50222169-50222170

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.763C>T; p.R255*; 12:50204653-50204653

 central_nervous_system; braingliomaSubstitution - Nonsense

c.481_482insA; p.M161fs*11; 12:50222169-50222170

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1905A>G; p.Q635Q; 12:50177439-50177439

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.506G>T; p.R169M; 12:50222145-50222145

 thyroidother; neoplasmSubstitution - Missense

c.2272G>A; p.E758K; 12:50177072-50177072

 breastcarcinomaSubstitution - Missense

c.622C>T; p.Q208*; 12:50222029-50222029

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.507G>C; p.R169S; 12:50222144-50222144

 thyroidother; neoplasmSubstitution - Missense

c.334G>A; p.A112T; 12:50222317-50222317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.797C>T; p.S266F; 12:50204619-50204619

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1047G>C; p.K349N; 12:50192545-50192545

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1947A>G; p.G649G; 12:50177397-50177397

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.796T>C; p.S266P; 12:50204620-50204620

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2196G>A; p.W732*; 12:50177148-50177148

 livercarcinomaSubstitution - Nonsense

c.178C>G; p.L60V; 12:50222473-50222473

 breastcarcinomaSubstitution - Missense

c.1126_1127CC>AT; p.P376I; 12:50192465-50192466

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.888C>T; p.G296G; 12:50200861-50200861

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.888C>T; p.G296G; 12:50200861-50200861

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.888C>T; p.G296G; 12:50200861-50200861

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1003C>A; p.R335S; 12:50195857-50195857

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1766G>A; p.R589H; 12:50177578-50177578

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1605delC; p.T536fs*38; 12:50177739-50177739

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1140+1G>A; p.?; 12:50192451-50192451

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.219G>A; p.K73K; 12:50222432-50222432

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.889G>A; p.E297K; 12:50200860-50200860

 breastcarcinomaSubstitution - Missense

c.306C>A; p.D102E; 12:50222345-50222345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.579G>A; p.P193P; 12:50222072-50222072

 bone; fibulaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1607C>T; p.T536I; 12:50177737-50177737

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.442G>A; p.G148S; 12:50222209-50222209

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.25C>T; p.R9W; 12:50248727-50248727

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.25C>T; p.R9W; 12:50248727-50248727

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.95C>T; p.S32L; 12:50248657-50248657

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2132T>C; p.V711A; 12:50177212-50177212

 livercarcinomaSubstitution - Missense

c.1486G>A; p.A496T; 12:50177858-50177858

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.84G>T; p.K28N; 12:50248668-50248668

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.539A>G; p.N180S; 12:50222112-50222112

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1417G>C; p.E473Q; 12:50177927-50177927

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.307C>A; p.H103N; 12:50222344-50222344

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.778C>T; p.P260S; 12:50204638-50204638

 skinmalignant_melanomaSubstitution - Missense

c.938C>A; p.P313H; 12:50200811-50200811

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.938C>A; p.P313H; 12:50200811-50200811

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.938C>A; p.P313H; 12:50200811-50200811

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1205G>A; p.R402H; 12:50181973-50181973

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.973-4G>T; p.?; 12:50195891-50195891

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.1304G>T; p.R435I; 12:50178040-50178040

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1304G>T; p.R435I; 12:50178040-50178040

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1584G>T; p.L528L; 12:50177760-50177760

 breastcarcinomaSubstitution - coding silent

c.305A>T; p.D102V; 12:50222346-50222346

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1655C>G; p.S552*; 12:50177689-50177689

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.504C>G; p.S168S; 12:50222147-50222147

 thyroidother; neoplasmSubstitution - coding silent

c.1678G>A; p.D560N; 12:50177666-50177666

 skinmalignant_melanomaSubstitution - Missense

c.2031G>A; p.E677E; 12:50177313-50177313

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1413C>T; p.N471N; 12:50177931-50177931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1822G>A; p.V608M; 12:50177522-50177522

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.784C>G; p.L262V; 12:50204632-50204632

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.747G>T; p.E249D; 12:50204669-50204669

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.772G>C; p.E258Q; 12:50204644-50204644

 breastcarcinomaSubstitution - Missense

c.1668G>A; p.W556*; 12:50177676-50177676

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1668G>A; p.W556*; 12:50177676-50177676

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.697G>A; p.D233N; 12:50206002-50206002

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.575T>C; p.V192A; 12:50222076-50222076

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.92C>T; p.S31L; 12:50248660-50248660

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1792C>G; p.Q598E; 12:50177552-50177552

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1012C>T; p.P338S; 12:50195848-50195848

 skinmalignant_melanomaSubstitution - Missense

c.231G>T; p.E77D; 12:50222420-50222420

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1105A>G; p.S369G; 12:50192487-50192487

 ovaryother; neoplasmSubstitution - Missense

c.1616G>C; p.G539A; 12:50177728-50177728

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1473A>T; p.P491P; 12:50177871-50177871

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1932G>C; p.K644N; 12:50177412-50177412

 breastcarcinomaSubstitution - Missense

c.1543C>G; p.Q515E; 12:50177801-50177801

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977C>T; p.S326F; 12:50195883-50195883

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.711_712CC>TT; p.P238S; 12:50205987-50205988

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.541A>G; p.T181A; 12:50222110-50222110

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.172delG; p.E58fs*12; 12:50222479-50222479

 livercarcinomaDeletion - Frameshift

c.1739G>C; p.R580P; 12:50177605-50177605

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.493C>T; p.L165L; 12:50222158-50222158

 skinmalignant_melanomaSubstitution - coding silent

c.1879G>C; p.G627R; 12:50177465-50177465

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.435C>G; p.I145M; 12:50222216-50222216

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.72T>G; p.S24S; 12:50248680-50248680

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.608A>T; p.K203I; 12:50222043-50222043

 thyroidother; neoplasmSubstitution - Missense

c.77T>G; p.V26G; 12:50248675-50248675

 livercarcinomaSubstitution - Missense

c.1078C>T; p.P360S; 12:50192514-50192514

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.651A>G; p.R217R; 12:50206048-50206048

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.651A>G; p.R217R; 12:50206048-50206048

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

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