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

Basic Information

Gene ID

84879

Name

MFSD2A

Synonymous

major facilitator superfamily domain containing 2A;MFSD2A;major facilitator superfamily domain containing 2A

Definition

major facilitator superfamily domain-containing protein 2A|sodium-dependent LPC symporter 1|sodium-dependent lysophosphatidylcholine symporter 1

Position

1p34.2

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

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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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.05.

The copy number variations for various cancers

Top

There is no record for MFSD2A

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1353-7C>G; p.?; 1:39968562-39968562

 livercarcinomaUnknown

c.1470A>G; p.K490K; 1:39968686-39968686

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1241A>T; p.H414L; 1:39968366-39968366

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1042C>T; p.Q348*; 1:39967658-39967658

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.832C>T; p.P278S; 1:39966837-39966837

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1050C>A; p.F350L; 1:39967666-39967666

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.858G>A; p.R286R; 1:39966863-39966863

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.113A>G; p.K38R; 1:39957106-39957106

 skinmalignant_melanomaSubstitution - Missense

c.1529+2T>G; p.?; 1:39968747-39968747

 ovarycarcinoma; serous_carcinomaUnknown

c.378C>T; p.A126A; 1:39965235-39965235

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.373C>A; p.L125M; 1:39965230-39965230

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.651T>C; p.N217N; 1:39965951-39965951

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.651T>C; p.N217N; 1:39965951-39965951

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.567G>A; p.V189V; 1:39965867-39965867

 skinmalignant_melanomaSubstitution - coding silent

c.340C>T; p.R114C; 1:39958812-39958812

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.870C>A; p.S290R; 1:39966875-39966875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.870C>A; p.S290R; 1:39966875-39966875

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.304C>T; p.L102F; 1:39958776-39958776

 skin; neckmalignant_melanomaSubstitution - Missense

c.293C>T; p.P98L; 1:39958765-39958765

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.744C>T; p.V248V; 1:39966630-39966630

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.229-3C>T; p.?; 1:39958698-39958698

 stomachcarcinoma; adenocarcinomaUnknown

c.542C>A; p.S181Y; 1:39965535-39965535

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1215G>T; p.M405I; 1:39968340-39968340

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977G>A; p.R326H; 1:39967135-39967135

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.977G>A; p.R326H; 1:39967135-39967135

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.322C>T; p.P108S; 1:39958794-39958794

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1243C>T; p.L415L; 1:39968368-39968368

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.874G>A; p.G292S; 1:39966879-39966879

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.617G>C; p.G206A; 1:39965917-39965917

 breastcarcinomaSubstitution - Missense

c.82G>A; p.A28T; 1:39955374-39955374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.873C>T; p.H291H; 1:39966878-39966878

 ovaryother; neoplasmSubstitution - coding silent

c.321C>T; p.S107S; 1:39958793-39958793

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.873C>T; p.H291H; 1:39966878-39966878

 ovaryother; neoplasmSubstitution - coding silent

c.1157C>T; p.A386V; 1:39967865-39967865

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1157C>T; p.A386V; 1:39967865-39967865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1157C>T; p.A386V; 1:39967865-39967865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1157C>T; p.A386V; 1:39967865-39967865

 pancreascarcinomaSubstitution - Missense

c.1542C>A; p.S514R; 1:39969517-39969517

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.837C>T; p.I279I; 1:39966842-39966842

 skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.289G>A; p.D97N; 1:39958761-39958761

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1013T>G; p.L338R; 1:39967629-39967629

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1477C>T; p.P493S; 1:39968693-39968693

 skinmalignant_melanomaSubstitution - Missense

c.1495C>T; p.R499W; 1:39968711-39968711

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.713C>T; p.T238M; 1:39966013-39966013

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.390C>T; p.Y130Y; 1:39965247-39965247

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.523G>A; p.E175K; 1:39965516-39965516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.686C>A; p.T229K; 1:39965986-39965986

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.350C>G; p.P117R; 1:39958822-39958822

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.556C>T; p.R186W; 1:39965549-39965549

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.556C>T; p.R186W; 1:39965549-39965549

 skinmalignant_melanomaSubstitution - Missense

c.556C>T; p.R186W; 1:39965549-39965549

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1430C>T; p.A477V; 1:39968646-39968646

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1430C>T; p.A477V; 1:39968646-39968646

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.10G>A; p.G4R; 1:39955302-39955302

 skinmalignant_melanomaSubstitution - Missense

c.605G>A; p.G202E; 1:39965905-39965905

 skinmalignant_melanomaSubstitution - Missense

c.754A>C; p.I252L; 1:39966640-39966640

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1005C>T; p.A335A; 1:39967163-39967163

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.999C>A; p.L333L; 1:39967157-39967157

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.919G>A; p.A307T; 1:39966924-39966924

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.477G>C; p.T159T; 1:39965334-39965334

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.874G>T; p.G292C; 1:39966879-39966879

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.507C>T; p.T169T; 1:39965500-39965500

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.874G>T; p.G292C; 1:39966879-39966879

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.204G>T; p.Q68H; 1:39957197-39957197

 livercarcinomaSubstitution - Missense

c.204G>T; p.Q68H; 1:39957197-39957197

 livercarcinomaSubstitution - Missense

c.199C>A; p.L67I; 1:39957192-39957192

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.490C>T; p.P164S; 1:39965483-39965483

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.158G>A; p.G53E; 1:39957151-39957151

 skinmalignant_melanomaSubstitution - Missense

c.6C>A; p.A2A; 1:39955298-39955298

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.369G>T; p.T123T; 1:39965226-39965226

 pancreascarcinomaSubstitution - coding silent

c.369G>T; p.T123T; 1:39965226-39965226

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.955T>C; p.C319R; 1:39967113-39967113

 prostatecarcinomaSubstitution - Missense

c.17G>T; p.G6V; 1:39955309-39955309

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.27C>A; p.S9R; 1:39955319-39955319

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.411C>T; p.P137P; 1:39965268-39965268

 skinmalignant_melanomaSubstitution - coding silent

c.350C>T; p.P117L; 1:39958822-39958822

 skinmalignant_melanomaSubstitution - Missense

c.918G>A; p.L306L; 1:39966923-39966923

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - coding silent

c.1233C>T; p.D411D; 1:39968358-39968358

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.150A>G; p.A50A; 1:39957143-39957143

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.150A>G; p.A50A; 1:39957143-39957143

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.441C>T; p.Y147Y; 1:39965298-39965298

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1553G>A; p.C518Y; 1:39969528-39969528

 ovaryother; neoplasmSubstitution - Missense

c.983A>T; p.E328V; 1:39967141-39967141

 pancreasNSSubstitution - Missense

c.987C>T; p.F329F; 1:39967145-39967145

 skinmalignant_melanomaSubstitution - coding silent

c.987C>T; p.F329F; 1:39967145-39967145

 skinmalignant_melanomaSubstitution - coding silent

c.230T>G; p.V77G; 1:39958702-39958702

 breastcarcinomaSubstitution - Missense

c.1534G>A; p.E512K; 1:39969509-39969509

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.1234G>A; p.D412N; 1:39968359-39968359

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1234G>A; p.D412N; 1:39968359-39968359

 skinmalignant_melanomaSubstitution - Missense

c.1410G>A; p.L470L; 1:39968626-39968626

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.198C>T; p.F66F; 1:39957191-39957191

 skinmalignant_melanomaSubstitution - coding silent

c.149C>G; p.A50G; 1:39957142-39957142

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1496G>T; p.R499L; 1:39968712-39968712

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.97G>T; p.E33*; 1:39957090-39957090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.97G>T; p.E33*; 1:39957090-39957090

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.856C>T; p.R286W; 1:39966861-39966861

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.856C>T; p.R286W; 1:39966861-39966861

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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