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

Basic Information

Gene ID

8994

Name

LIMD1

Synonymous

LIM domains containing 1;LIMD1;LIM domains containing 1

Definition

LIM domain-containing protein 1

Position

3p21.3

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

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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

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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

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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.1450C>G; p.Q484E; 3:45636191-45636191

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.361G>A; p.A121T; 3:45595240-45595240

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.452G>A; p.R151K; 3:45595331-45595331

 livercarcinomaSubstitution - Missense

c.452G>A; p.R151K; 3:45595331-45595331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1940C>T; p.P647L; 3:45676968-45676968

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.995_996insC; p.Q334fs*65; 3:45595874-45595875

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.882C>T; p.T294T; 3:45595761-45595761

 breastcarcinomaSubstitution - coding silent

c.882C>T; p.T294T; 3:45595761-45595761

 thyroidother; neoplasmSubstitution - coding silent

c.636delG; p.S214fs*14; 3:45595515-45595515

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.510T>C; p.D170D; 3:45595389-45595389

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.155T>C; p.M52T; 3:45595034-45595034

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.510T>C; p.D170D; 3:45595389-45595389

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1684C>T; p.R562C; 3:45672732-45672732

 oesophaguscarcinomaSubstitution - Missense

c.1068T>C; p.G356G; 3:45595947-45595947

 thyroidother; neoplasmSubstitution - coding silent

c.316C>T; p.P106S; 3:45595195-45595195

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.508G>T; p.D170Y; 3:45595387-45595387

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.25C>T; p.L9L; 3:45594904-45594904

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1632C>T; p.I544I; 3:45668347-45668347

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.144C>T; p.F48F; 3:45595023-45595023

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.144C>T; p.F48F; 3:45595023-45595023

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.144C>T; p.F48F; 3:45595023-45595023

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.951G>T; p.G317G; 3:45595830-45595830

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.402C>T; p.S134S; 3:45595281-45595281

 skinmalignant_melanomaSubstitution - coding silent

c.206_207delCT; p.L70fs*5; 3:45595085-45595086

 central_nervous_system; brainglioma; astrocytoma_Grade_IIDeletion - Frameshift

c.973G>C; p.V325L; 3:45595852-45595852

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1067G>A; p.G356D; 3:45595946-45595946

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.546C>T; p.N182N; 3:45595425-45595425

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.723G>A; p.E241E; 3:45595602-45595602

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.34A>T; p.S12C; 3:45594913-45594913

 thyroidcarcinomaSubstitution - Missense

c.1692C>T; p.V564V; 3:45672740-45672740

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1735T>G; p.S579A; 3:45672783-45672783

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1735T>G; p.S579A; 3:45672783-45672783

 livercarcinomaSubstitution - Missense

c.765C>T; p.S255S; 3:45595644-45595644

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1504G>A; p.A502T; 3:45636245-45636245

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.213C>T; p.P71P; 3:45595092-45595092

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.568T>C; p.W190R; 3:45595447-45595447

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1409-6_1409-5insT; p.?; 3:45636144-45636145

 stomachcarcinoma; diffuse_adenocarcinomaUnknown

c.1664C>T; p.S555F; 3:45672712-45672712

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.1971C>T; p.C657C; 3:45676999-45676999

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1121G>A; p.C374Y; 3:45596000-45596000

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1037C>T; p.S346F; 3:45595916-45595916

 skinmalignant_melanomaSubstitution - Missense

c.954delG; p.G320fs*6; 3:45595833-45595833

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.954delG; p.G320fs*6; 3:45595833-45595833

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.954delG; p.G320fs*6; 3:45595833-45595833

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1525G>A; p.G509R; 3:45665664-45665664

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1149C>G; p.L383L; 3:45596028-45596028

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1041T>G; p.S347R; 3:45595920-45595920

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.560G>C; p.S187T; 3:45595439-45595439

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1194G>A; p.E398E; 3:45596073-45596073

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.82C>T; p.L28F; 3:45594961-45594961

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.30G>A; p.E10E; 3:45594909-45594909

 pancreascarcinomaSubstitution - coding silent

c.30G>A; p.E10E; 3:45594909-45594909

 pancreascarcinomaSubstitution - coding silent

c.30G>A; p.E10E; 3:45594909-45594909

 pancreascarcinomaSubstitution - coding silent

c.30G>A; p.E10E; 3:45594909-45594909

 pancreascarcinomaSubstitution - coding silent

c.87C>T; p.F29F; 3:45594966-45594966

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.133C>T; p.R45C; 3:45595012-45595012

 breastcarcinomaSubstitution - Missense

c.60G>C; p.M20I; 3:45594939-45594939

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1729G>A; p.V577M; 3:45672777-45672777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1840A>T; p.I614F; 3:45674358-45674358

 livercarcinomaSubstitution - Missense

c.1840A>T; p.I614F; 3:45674358-45674358

 livercarcinomaSubstitution - Missense

c.572G>A; p.G191D; 3:45595451-45595451

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.522C>T; p.L174L; 3:45595401-45595401

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.522C>T; p.L174L; 3:45595401-45595401

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1010T>A; p.F337Y; 3:45595889-45595889

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.464C>T; p.A155V; 3:45595343-45595343

 pancreascarcinomaSubstitution - Missense

c.464C>T; p.A155V; 3:45595343-45595343

 pancreascarcinomaSubstitution - Missense

c.1243G>A; p.G415R; 3:45596122-45596122

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.464C>T; p.A155V; 3:45595343-45595343

 pancreascarcinomaSubstitution - Missense

c.46G>A; p.E16K; 3:45594925-45594925

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1848C>T; p.V616V; 3:45674366-45674366

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1133G>A; p.G378D; 3:45596012-45596012

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.684T>C; p.N228N; 3:45595563-45595563

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1719_1720insGCC; p.V573_P574insA; 3:45672767-45672768

 stomachcarcinoma; diffuse_adenocarcinomaInsertion - In frame

c.1075G>T; p.G359C; 3:45595954-45595954

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1822G>T; p.E608*; 3:45673503-45673503

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.465G>A; p.A155A; 3:45595344-45595344

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1514G>A; p.R505Q; 3:45665653-45665653

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1069C>T; p.L357L; 3:45595948-45595948

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1674C>T; p.P558P; 3:45672722-45672722

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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