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

Basic Information

Gene ID

4045

Name

LSAMP

Synonymous

limbic system-associated membrane protein;LSAMP;limbic system-associated membrane protein

Definition

IgLON family member 3

Position

3q13.2-q21

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 0.02.

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.382G>A; p.V128I; 3:116086330-116086330

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.111C>T; p.G37G; 3:116444921-116444921

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.502C>A; p.L168I; 3:116019527-116019527

 skinmalignant_melanomaSubstitution - Missense

c.856G>A; p.G286S; 3:115841908-115841908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.906C>A; p.S302R; 3:115841858-115841858

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.18G>T; p.Q6H; 3:116445014-116445014

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.44T>C; p.V15A; 3:116444988-116444988

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.250G>A; p.V84I; 3:116086462-116086462

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.831G>A; p.V277V; 3:115841933-115841933

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.615G>A; p.S205S; 3:115852517-115852517

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.288C>T; p.L96L; 3:116086424-116086424

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.125C>T; p.T42I; 3:116444907-116444907

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.320G>T; p.G107V; 3:116086392-116086392

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.205G>A; p.G69S; 3:116086507-116086507

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.264A>G; p.K88K; 3:116086448-116086448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.369A>G; p.Q123Q; 3:116086343-116086343

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.290G>A; p.R97Q; 3:116086422-116086422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.290G>A; p.R97Q; 3:116086422-116086422

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.290G>A; p.R97Q; 3:116086422-116086422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.535G>A; p.E179K; 3:115852597-115852597

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.290G>A; p.R97Q; 3:116086422-116086422

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.633C>A; p.V211V; 3:115852499-115852499

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.633C>A; p.V211V; 3:115852499-115852499

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - coding silent

c.169G>T; p.D57Y; 3:116086543-116086543

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.657C>T; p.P219P; 3:115842571-115842571

 skinmalignant_melanomaSubstitution - coding silent

c.875C>T; p.A292V; 3:115841889-115841889

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.352G>T; p.E118*; 3:116086360-116086360

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.822C>A; p.S274S; 3:115841942-115841942

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.618G>A; p.A206A; 3:115852514-115852514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.912C>A; p.V304V; 3:115841852-115841852

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.138G>T; p.G46G; 3:116444894-116444894

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.954C>T; p.I318I; 3:115810380-115810380

 breastcarcinomaSubstitution - coding silent

c.770+6T>C; p.?; 3:115842452-115842452

 livercarcinomaUnknown

c.770+6T>C; p.?; 3:115842452-115842452

 livercarcinomaUnknown

c.238C>T; p.L80L; 3:116086474-116086474

 skinmalignant_melanomaSubstitution - coding silent

c.732G>A; p.V244V; 3:115842496-115842496

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.438C>A; p.G146G; 3:116019591-116019591

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.93C>A; p.S31R; 3:116444939-116444939

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.272C>A; p.S91Y; 3:116086440-116086440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.719A>G; p.E240G; 3:115842509-115842509

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.793G>C; p.E265Q; 3:115841971-115841971

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.266G>T; p.R89L; 3:116086446-116086446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.709C>T; p.L237F; 3:115842519-115842519

 skin; trunkmalignant_melanomaSubstitution - Missense

c.619G>A; p.D207N; 3:115852513-115852513

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.908T>C; p.L303P; 3:115841856-115841856

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.284G>A; p.S95N; 3:116086428-116086428

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.630A>G; p.Q210Q; 3:115852502-115852502

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.617C>T; p.A206V; 3:115852515-115852515

 thyroidcarcinomaSubstitution - Missense

c.514+2T>A; p.?; 3:116019513-116019513

 lung; right_lower_lobecarcinoma; adenocarcinomaUnknown

c.894C>T; p.V298V; 3:115841870-115841870

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.894C>T; p.V298V; 3:115841870-115841870

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.366_367CC>TT; p.Q123*; 3:116086345-116086346

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.962C>T; p.A321V; 3:115810372-115810372

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.272C>T; p.S91F; 3:116086440-116086440

 skinmalignant_melanomaSubstitution - Missense

c.375C>A; p.Y125*; 3:116086337-116086337

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.771G>A; p.R257R; 3:115841993-115841993

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.962C>A; p.A321D; 3:115810372-115810372

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.428T>G; p.V143G; 3:116019601-116019601

 skinmalignant_melanomaSubstitution - Missense

c.520G>A; p.E174K; 3:115852612-115852612

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.183G>T; p.K61N; 3:116086529-116086529

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.637G>A; p.V213I; 3:115852495-115852495

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.382G>T; p.V128L; 3:116086330-116086330

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.888G>T; p.L296L; 3:115841876-115841876

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.947G>A; p.G316E; 3:115810387-115810387

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.25C>T; p.R9W; 3:116445007-116445007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.929C>T; p.S310L; 3:115810405-115810405

 thyroidother; neoplasmSubstitution - Missense

c.929C>T; p.S310L; 3:115810405-115810405

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.25C>T; p.R9W; 3:116445007-116445007

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.606G>A; p.E202E; 3:115852526-115852526

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.354G>T; p.E118D; 3:116086358-116086358

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.725C>T; p.S242L; 3:115842503-115842503

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.502C>T; p.L168F; 3:116019527-116019527

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.827C>T; p.T276M; 3:115841937-115841937

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.827C>T; p.T276M; 3:115841937-115841937

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.538_540delGAA; p.E180delE; 3:115852592-115852594

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.354G>A; p.E118E; 3:116086358-116086358

 livercarcinomaSubstitution - coding silent

c.354G>A; p.E118E; 3:116086358-116086358

 livercarcinomaSubstitution - coding silent

c.252T>G; p.V84V; 3:116086460-116086460

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.544C>T; p.L182L; 3:115852588-115852588

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.707C>T; p.S236L; 3:115842521-115842521

 pancreascarcinomaSubstitution - Missense

c.344C>A; p.T115K; 3:116086368-116086368

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.526G>A; p.E176K; 3:115852606-115852606

 skinmalignant_melanomaSubstitution - Missense

c.512C>A; p.T171N; 3:116019517-116019517

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.126C>T; p.T42T; 3:116444906-116444906

 bone; pelvischondrosarcomaSubstitution - coding silent

c.381C>T; p.I127I; 3:116086331-116086331

 skinmalignant_melanomaSubstitution - coding silent

c.411C>A; p.I137I; 3:116019618-116019618

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.333C>T; p.C111C; 3:116086379-116086379

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.333C>T; p.C111C; 3:116086379-116086379

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.726G>A; p.S242S; 3:115842502-115842502

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.706T>A; p.S236T; 3:115842522-115842522

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.837C>T; p.N279N; 3:115841927-115841927

 prostatecarcinomaSubstitution - coding silent

c.661A>G; p.I221V; 3:115842567-115842567

 thyroidcarcinomaSubstitution - Missense

c.445G>A; p.V149M; 3:116019584-116019584

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.445G>A; p.V149M; 3:116019584-116019584

 breastcarcinomaSubstitution - Missense

c.418G>A; p.D140N; 3:116019611-116019611

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.418G>A; p.D140N; 3:116019611-116019611

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.793G>A; p.E265K; 3:115841971-115841971

 skinmalignant_melanomaSubstitution - Missense

c.844G>A; p.E282K; 3:115841920-115841920

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.677G>T; p.S226I; 3:115842551-115842551

 pancreascarcinomaSubstitution - Missense

c.677G>T; p.S226I; 3:115842551-115842551

 pancreascarcinomaSubstitution - Missense

c.677G>T; p.S226I; 3:115842551-115842551

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.972G>C; p.L324L; 3:115810362-115810362

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.240G>T; p.L80L; 3:116086472-116086472

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.248G>A; p.R83Q; 3:116086464-116086464

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.818C>A; p.S273Y; 3:115841946-115841946

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.801G>A; p.K267K; 3:115841963-115841963

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.160G>A; p.V54I; 3:116086552-116086552

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.553C>T; p.L185F; 3:115852579-115852579

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.77G>A; p.G26E; 3:116444955-116444955

 skin; trunkmalignant_melanomaSubstitution - Missense

c.515-1G>A; p.?; 3:115852618-115852618

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.279A>C; p.E93D; 3:116086433-116086433

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.692C>G; p.T231R; 3:115842536-115842536

 livercarcinomaSubstitution - Missense

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