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

Basic Information

Gene ID

27232

Name

GNMT

Synonymous

glycine N-methyltransferase;GNMT;glycine N-methyltransferase

Definition

HEL-S-182mP|epididymis secretory sperm binding protein Li 182mP

Position

6p12

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 0.00.

The copy number variations for various cancers

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There is no record for GNMT

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.783C>T; p.F261F; 6:42963601-42963601

 skinmalignant_melanomaSubstitution - coding silent

c.678G>T; p.Q226H; 6:42963411-42963411

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.260delC; p.S88fs*5; 6:42962265-42962265

 haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaDeletion - Frameshift

c.679G>A; p.V227M; 6:42963412-42963412

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.530A>C; p.H177P; 6:42963150-42963150

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.554G>A; p.S185N; 6:42963174-42963174

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.763G>A; p.E255K; 6:42963581-42963581

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.285A>G; p.A95A; 6:42962290-42962290

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.541G>A; p.D181N; 6:42963161-42963161

 livercarcinomaSubstitution - Missense

c.541G>A; p.D181N; 6:42963161-42963161

 livercarcinomaSubstitution - Missense

c.502C>T; p.R168W; 6:42963122-42963122

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.636G>A; p.V212V; 6:42963369-42963369

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.429C>T; p.F143F; 6:42962856-42962856

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.491C>T; p.A164V; 6:42963111-42963111

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.307C>T; p.R103W; 6:42962312-42962312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.725G>A; p.R242Q; 6:42963543-42963543

 skinmalignant_melanomaSubstitution - Missense

c.200G>A; p.G67D; 6:42960967-42960967

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.466C>T; p.H156Y; 6:42963086-42963086

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.319G>A; p.A107T; 6:42962324-42962324

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.60C>A; p.D20E; 6:42960827-42960827

 ovaryother; neoplasmSubstitution - Missense

c.532C>T; p.R178C; 6:42963152-42963152

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.532C>T; p.R178C; 6:42963152-42963152

 skinmalignant_melanomaSubstitution - Missense

c.613G>A; p.V205I; 6:42963346-42963346

 skinmalignant_melanomaSubstitution - Missense

c.808C>T; p.L270L; 6:42963626-42963626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.208G>A; p.V70M; 6:42962213-42962213

 pancreascarcinomaSubstitution - Missense

c.208G>A; p.V70M; 6:42962213-42962213

 pancreascarcinomaSubstitution - Missense

c.523A>G; p.I175V; 6:42963143-42963143

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.392G>A; p.G131D; 6:42962819-42962819

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.868G>A; p.V290M; 6:42963686-42963686

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.714G>C; p.L238F; 6:42963447-42963447

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.646G>A; p.A216T; 6:42963379-42963379

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.236G>A; p.G79D; 6:42962241-42962241

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.430G>A; p.A144T; 6:42962857-42962857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.451+4A>G; p.?; 6:42962882-42962882

 central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.492G>A; p.A164A; 6:42963112-42963112

 skinmalignant_melanomaSubstitution - coding silent

c.260C>T; p.A87V; 6:42962265-42962265

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.788G>A; p.G263D; 6:42963606-42963606

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.296G>A; p.R99H; 6:42962301-42962301

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.210G>A; p.V70V; 6:42962215-42962215

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.825T>C; p.P275P; 6:42963643-42963643

 breastcarcinomaSubstitution - coding silent

c.209T>C; p.V70A; 6:42962214-42962214

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.209T>C; p.V70A; 6:42962214-42962214

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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