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

Basic Information

Gene ID

4499

Name

MT1M

Synonymous

metallothionein 1M;MT1M;metallothionein 1M

Definition

metallothionein 1K|metallothionein 1Y|metallothionein-1M

Position

16q13

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 0.13.

The copy number variations for various cancers

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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.24C>A; p.T8T; 16:56632755-56632755

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.177C>G; p.C59W; 16:56633833-56633833

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.88A>G; p.K30E; 16:56633399-56633399

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.123T>A; p.C41*; 16:56633779-56633779

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.59C>G; p.T20R; 16:56633370-56633370

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.108C>T; p.C36C; 16:56633764-56633764

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.11A>C; p.N4T; 16:56632742-56632742

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.37T>C; p.C13R; 16:56633348-56633348

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.4G>A; p.D2N; 16:56632735-56632735

breastcarcinomaSubstitution - Missense

c.39C>T; p.C13C; 16:56633350-56633350

breastcarcinomaSubstitution - coding silent

c.8C>G; p.P3R; 16:56632739-56632739

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.47C>G; p.T16S; 16:56633358-56633358

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.83C>A; p.S28Y; 16:56633394-56633394

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.102C>T; p.C34C; 16:56633758-56633758

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.102C>T; p.C34C; 16:56633758-56633758

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.80C>A; p.T27N; 16:56633391-56633391

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.143G>A; p.C48Y; 16:56633799-56633799

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.85T>A; p.C29S; 16:56633396-56633396

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.71G>A; p.C24Y; 16:56633382-56633382

salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.71G>A; p.C24Y; 16:56633382-56633382

stomachcarcinoma; adenocarcinomaSubstitution - Missense


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