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

Basic Information

Gene ID

259230

Name

SGMS1

Synonymous

sphingomyelin synthase 1;SGMS1;sphingomyelin synthase 1

Definition

medulla oblongata-derived protein|phosphatidylcholine:ceramide cholinephosphotransferase 1|protein Mob|transmembrane protein 23

Position

10q11.2

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 0.10.

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.466G>T; p.V156F; 10:50343649-50343649

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.456G>A; p.M152I; 10:50343659-50343659

 skinmalignant_melanomaSubstitution - Missense

c.281C>T; p.P94L; 10:50343834-50343834

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.770G>A; p.R257Q; 10:50311387-50311387

 skinmalignant_melanomaSubstitution - Missense

c.418C>T; p.L140F; 10:50343697-50343697

 skinmalignant_melanomaSubstitution - Missense

c.472G>A; p.E158K; 10:50343643-50343643

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.472G>A; p.E158K; 10:50343643-50343643

 skinmalignant_melanomaSubstitution - Missense

c.390G>A; p.M130I; 10:50343725-50343725

 skinmalignant_melanomaSubstitution - Missense

c.431C>T; p.S144F; 10:50343684-50343684

 skinmalignant_melanomaSubstitution - Missense

c.499C>T; p.P167S; 10:50343616-50343616

 breastcarcinomaSubstitution - Missense

c.127G>A; p.D43N; 10:50343988-50343988

 skinmalignant_melanomaSubstitution - Missense

c.127G>A; p.D43N; 10:50343988-50343988

 skinmalignant_melanomaSubstitution - Missense

c.139C>T; p.P47S; 10:50343976-50343976

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.608T>C; p.L203P; 10:50343507-50343507

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.786C>A; p.L262L; 10:50311371-50311371

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.484C>T; p.P162S; 10:50343631-50343631

 skinmalignant_melanomaSubstitution - Missense

c.974C>T; p.A325V; 10:50308070-50308070

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.535C>T; p.R179W; 10:50343580-50343580

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.286G>T; p.G96C; 10:50343829-50343829

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.318G>T; p.G106G; 10:50343797-50343797

 breastcarcinomaSubstitution - coding silent

c.438C>T; p.F146F; 10:50343677-50343677

 skinmalignant_melanomaSubstitution - coding silent

c.438C>T; p.F146F; 10:50343677-50343677

 skinmalignant_melanomaSubstitution - coding silent

c.960C>T; p.F320F; 10:50308084-50308084

 skinmalignant_melanomaSubstitution - coding silent

c.927G>A; p.W309*; 10:50308117-50308117

 skinmalignant_melanomaSubstitution - Nonsense

c.282C>T; p.P94P; 10:50343833-50343833

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1115G>T; p.R372M; 10:50307269-50307269

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.901C>T; p.P301S; 10:50308143-50308143

 skinmalignant_melanomaSubstitution - Missense

c.1123C>A; p.Q375K; 10:50307261-50307261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1160G>A; p.R387Q; 10:50307224-50307224

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1179C>T; p.F393F; 10:50307205-50307205

 skinmalignant_melanomaSubstitution - coding silent

c.155T>C; p.V52A; 10:50343960-50343960

 livercarcinomaSubstitution - Missense

c.922C>T; p.H308Y; 10:50308122-50308122

 skinmalignant_melanomaSubstitution - Missense

c.562G>A; p.E188K; 10:50343553-50343553

 skinmalignant_melanomaSubstitution - Missense

c.476G>A; p.R159Q; 10:50343639-50343639

 breastcarcinomaSubstitution - Missense

c.1112A>G; p.Y371C; 10:50307272-50307272

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.141C>T; p.P47P; 10:50343974-50343974

 skinmalignant_melanomaSubstitution - coding silent

c.602A>T; p.Q201L; 10:50343513-50343513

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.834G>A; p.G278G; 10:50311323-50311323

 skinmalignant_melanomaSubstitution - coding silent

c.812C>T; p.T271I; 10:50311345-50311345

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.260T>A; p.I87N; 10:50343855-50343855

 skinmalignant_melanomaSubstitution - Missense

c.488A>G; p.K163R; 10:50343627-50343627

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.654A>G; p.I218M; 10:50327292-50327292

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.975G>A; p.A325A; 10:50308069-50308069

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.235G>A; p.G79S; 10:50343880-50343880

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1101G>T; p.R367S; 10:50307283-50307283

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.457A>T; p.I153F; 10:50343658-50343658

 livercarcinomaSubstitution - Missense

c.457A>T; p.I153F; 10:50343658-50343658

 livercarcinomaSubstitution - Missense

c.139C>A; p.P47T; 10:50343976-50343976

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.765A>G; p.Q255Q; 10:50311392-50311392

 skinmalignant_melanomaSubstitution - coding silent

c.579C>T; p.I193I; 10:50343536-50343536

 skinmalignant_melanomaSubstitution - coding silent

c.967C>A; p.L323I; 10:50308077-50308077

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.753C>T; p.D251D; 10:50311404-50311404

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.748G>A; p.G250R; 10:50311409-50311409

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.189G>A; p.M63I; 10:50343926-50343926

 skinmalignant_melanomaSubstitution - Missense

c.189G>A; p.M63I; 10:50343926-50343926

 skinmalignant_melanomaSubstitution - Missense

c.904C>T; p.R302W; 10:50308140-50308140

 skinmalignant_melanomaSubstitution - Missense

c.875C>T; p.T292I; 10:50311282-50311282

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.726C>T; p.F242F; 10:50327220-50327220

 skinmalignant_melanomaSubstitution - coding silent

c.503C>T; p.P168L; 10:50343612-50343612

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.503C>T; p.P168L; 10:50343612-50343612

 skinmalignant_melanomaSubstitution - Missense

c.213C>T; p.H71H; 10:50343902-50343902

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.471C>T; p.H157H; 10:50343644-50343644

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.213C>T; p.H71H; 10:50343902-50343902

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.103G>A; p.D35N; 10:50344012-50344012

 skinmalignant_melanomaSubstitution - Missense

c.676C>T; p.R226W; 10:50327270-50327270

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.677G>A; p.R226Q; 10:50327269-50327269

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.677G>A; p.R226Q; 10:50327269-50327269

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.380A>T; p.Q127L; 10:50343735-50343735

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.887T>G; p.I296S; 10:50311270-50311270

 small_intestinecarcinoid-endocrine_tumourSubstitution - Missense

c.158C>T; p.S53F; 10:50343957-50343957

 skinmalignant_melanomaSubstitution - Missense

c.234C>T; p.N78N; 10:50343881-50343881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.158C>T; p.S53F; 10:50343957-50343957

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.234C>T; p.N78N; 10:50343881-50343881

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.80C>T; p.P27L; 10:50344035-50344035

 skinmalignant_melanomaSubstitution - Missense

c.290G>T; p.S97I; 10:50343825-50343825

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.391G>A; p.E131K; 10:50343724-50343724

 skinmalignant_melanomaSubstitution - Missense

c.1150A>C; p.I384L; 10:50307234-50307234

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.287G>T; p.G96V; 10:50343828-50343828

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.391G>T; p.E131*; 10:50343724-50343724

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.489G>A; p.K163K; 10:50343626-50343626

 skinmalignant_melanomaSubstitution - coding silent

c.315C>T; p.N105N; 10:50343800-50343800

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1184G>T; p.W395L; 10:50307200-50307200

 livercarcinomaSubstitution - Missense

c.1184G>T; p.W395L; 10:50307200-50307200

 livercarcinomaSubstitution - Missense

c.461C>A; p.S154*; 10:50343654-50343654

 prostatecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1207C>T; p.Q403*; 10:50307177-50307177

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.645T>G; p.F215L; 10:50327301-50327301

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.179T>G; p.L60R; 10:50343936-50343936

 skin; legmalignant_melanomaSubstitution - Missense

c.179T>G; p.L60R; 10:50343936-50343936

 skin; legmalignant_melanomaSubstitution - Missense

c.144delC; p.L49fs*15; 10:50343971-50343971

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.330G>A; p.G110G; 10:50343785-50343785

 livercarcinomaSubstitution - coding silent

c.1159C>T; p.R387*; 10:50307225-50307225

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1159C>T; p.R387*; 10:50307225-50307225

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1159C>T; p.R387*; 10:50307225-50307225

 skinmalignant_melanomaSubstitution - Nonsense

c.626C>A; p.S209Y; 10:50327320-50327320

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.168T>C; p.N56N; 10:50343947-50343947

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

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