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

Basic Information

Gene ID

960

Name

CD44

Synonymous

CD44 molecule (Indian blood group);CD44;CD44 molecule (Indian blood group)

Definition

CD44 antigen|GP90 lymphocyte homing/adhesion receptor|Hermes antigen|cell surface glycoprotein CD44|chondroitin sulfate proteoglycan 8|epican|extracellular matrix receptor III|hematopoietic cell E- and L-selectin ligand|heparan sulfate proteoglycan|homing

Position

11p13

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.1514C>T; p.T505M; 11:35208204-35208204

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1974G>A; p.L658L; 11:35221682-35221682

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.252G>C; p.G84G; 11:35180292-35180292

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.516C>G; p.N172K; 11:35189914-35189914

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1521G>C; p.Q507H; 11:35209969-35209969

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.255C>T; p.H85H; 11:35180295-35180295

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.255C>T; p.H85H; 11:35180295-35180295

 thyroidother; neoplasmSubstitution - coding silent

c.541G>A; p.G181S; 11:35189939-35189939

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1334C>T; p.P445L; 11:35206163-35206163

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.68-1G>T; p.?; 11:35176574-35176574

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.881G>A; p.G294E; 11:35198205-35198205

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1303C>A; p.H435N; 11:35206132-35206132

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1569delT; p.D523fs*10; 11:35210017-35210017

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1691A>G; p.Y564C; 11:35211330-35211330

 pancreascarcinomaSubstitution - Missense

c.1832C>A; p.P611H; 11:35214873-35214873

 pancreascarcinomaSubstitution - Missense

c.1832C>A; p.P611H; 11:35214873-35214873

 pancreascarcinomaSubstitution - Missense

c.1832C>A; p.P611H; 11:35214873-35214873

 pancreascarcinomaSubstitution - Missense

c.531C>T; p.D177D; 11:35189929-35189929

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.140C>T; p.T47M; 11:35176647-35176647

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1179G>A; p.T393T; 11:35204537-35204537

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1533G>C; p.Q511H; 11:35209981-35209981

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1533G>C; p.Q511H; 11:35209981-35209981

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1796A>G; p.N599S; 11:35211435-35211435

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1569T>G; p.D523E; 11:35210017-35210017

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.84C>T; p.C28C; 11:35176591-35176591

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.233G>A; p.R78K; 11:35176740-35176740

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1600T>C; p.S534P; 11:35210048-35210048

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1217A>G; p.N406S; 11:35204575-35204575

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1017G>A; p.Q339Q; 11:35201176-35201176

 pancreasNSSubstitution - coding silent

c.1860A>G; p.G620G; 11:35214901-35214901

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.436+2T>A; p.?; 11:35186902-35186902

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1230G>A; p.E410E; 11:35204588-35204588

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2101G>A; p.G701R; 11:35229205-35229205

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1373C>G; p.S458*; 11:35206202-35206202

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.136C>T; p.R46W; 11:35176643-35176643

 skinmalignant_melanomaSubstitution - Missense

c.723C>A; p.T241T; 11:35196801-35196801

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1547C>T; p.S516L; 11:35209995-35209995

 central_nervous_system; braingliomaSubstitution - Missense

c.154C>T; p.L52F; 11:35176661-35176661

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1359C>A; p.F453L; 11:35206188-35206188

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1131G>A; p.E377E; 11:35201765-35201765

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2168A>C; p.Q723P; 11:35229272-35229272

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1454_1461delCAAATCCA; p.A485fs*22; 11:35208144-35208151

 breastcarcinomaDeletion - Frameshift

c.1828C>T; p.H610Y; 11:35214869-35214869

 skinmalignant_melanomaSubstitution - Missense

c.2162C>A; p.P721Q; 11:35229266-35229266

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.534G>A; p.V178V; 11:35189932-35189932

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1460C>T; p.P487L; 11:35208150-35208150

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.221T>A; p.F74Y; 11:35176728-35176728

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1660A>G; p.T554A; 11:35211299-35211299

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1660A>G; p.T554A; 11:35211299-35211299

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1376A>C; p.H459P; 11:35206205-35206205

 breastcarcinomaSubstitution - Missense

c.1689T>G; p.H563Q; 11:35211328-35211328

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1831C>T; p.P611S; 11:35214872-35214872

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1293T>C; p.A431A; 11:35206122-35206122

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1290A>C; p.S430S; 11:35206119-35206119

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.92C>T; p.A31V; 11:35176599-35176599

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.557G>T; p.R186M; 11:35189955-35189955

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1837delG; p.S615fs*28; 11:35214878-35214878

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1377C>A; p.H459Q; 11:35206206-35206206

 livercarcinomaSubstitution - Missense

c.1377C>A; p.H459Q; 11:35206206-35206206

 livercarcinomaSubstitution - Missense

c.1723C>T; p.P575S; 11:35211362-35211362

 skinmalignant_melanomaSubstitution - Missense

c.883T>C; p.S295P; 11:35198207-35198207

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1028G>T; p.R343M; 11:35201187-35201187

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.976C>A; p.Q326K; 11:35201135-35201135

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1387C>T; p.R463*; 11:35206216-35206216

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.565A>G; p.T189A; 11:35189963-35189963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.V36M; 11:35176613-35176613

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.V36M; 11:35176613-35176613

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.135T>C; p.S45S; 11:35176642-35176642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.199G>T; p.E67*; 11:35176706-35176706

 breastcarcinomaSubstitution - Nonsense

c.1777G>C; p.D593H; 11:35211416-35211416

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1381A>G; p.M461V; 11:35206210-35206210

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.636C>T; p.I212I; 11:35190034-35190034

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.870C>T; p.L290L; 11:35198194-35198194

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.870C>T; p.L290L; 11:35198194-35198194

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1171A>G; p.S391G; 11:35204529-35204529

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.898G>T; p.D300Y; 11:35198222-35198222

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1770T>C; p.T590T; 11:35211409-35211409

 thyroidcarcinomaSubstitution - coding silent

c.1639C>G; p.P547A; 11:35211278-35211278

 livercarcinomaSubstitution - Missense

c.1639C>G; p.P547A; 11:35211278-35211278

 livercarcinomaSubstitution - Missense

c.797-1G>C; p.?; 11:35198120-35198120

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.295G>A; p.A99T; 11:35180335-35180335

 thyroidcarcinomaSubstitution - Missense

c.1061C>T; p.A354V; 11:35201695-35201695

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1266G>A; p.S422S; 11:35204624-35204624

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.85C>T; p.R29C; 11:35176592-35176592

 central_nervous_system; braingliomaSubstitution - Missense

c.545C>T; p.S182F; 11:35189943-35189943

 skinmalignant_melanomaSubstitution - Missense

c.1956C>T; p.I652I; 11:35221664-35221664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1001C>T; p.P334L; 11:35201160-35201160

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.127A>G; p.S43G; 11:35176634-35176634

 livercarcinomaSubstitution - Missense

c.127A>G; p.S43G; 11:35176634-35176634

 livercarcinomaSubstitution - Missense

c.269G>A; p.R90Q; 11:35180309-35180309

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.754T>C; p.S252P; 11:35196832-35196832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1266G>C; p.S422S; 11:35204624-35204624

 breastcarcinomaSubstitution - coding silent

c.2204A>C; p.N735T; 11:35229308-35229308

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.640G>A; p.D214N; 11:35190038-35190038

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.852T>C; p.D284D; 11:35198176-35198176

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1294C>T; p.H432Y; 11:35206123-35206123

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1180G>T; p.E394*; 11:35204538-35204538

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.906T>C; p.D302D; 11:35198230-35198230

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.802T>A; p.S268T; 11:35198126-35198126

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.788A>G; p.Q263R; 11:35196866-35196866

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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