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

Basic Information

Gene ID

4082

Name

MARCKS

Synonymous

myristoylated alanine-rich protein kinase C substrate;MARCKS;myristoylated alanine-rich protein kinase C substrate

Definition

myristoylated alanine-rich C-kinase substrate|myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)|phosphomyristin|protein kinase C substrate, 80 kDa protein, light chain

Position

6q22.2

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

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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 0.46.

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.453_454insA; p.K156fs*28; 6:113860033-113860034

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.453_454insA; p.K156fs*28; 6:113860033-113860034

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.86C>T; p.S29F; 6:113857831-113857831

skinmalignant_melanomaSubstitution - Missense

c.499A>T; p.S167C; 6:113860079-113860079

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.93G>A; p.A31A; 6:113857838-113857838

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.582C>T; p.D194D; 6:113860162-113860162

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.974delC; p.P327fs*>6; 6:113860554-113860554

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.553G>A; p.E185K; 6:113860133-113860133

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.913G>A; p.A305T; 6:113860493-113860493

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.923C>T; p.S308L; 6:113860503-113860503

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.202G>A; p.D68N; 6:113859782-113859782

ovaryother; neoplasmSubstitution - Missense

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

pancreaspancreatic_intraepithelial_neoplasia_(PanIN)Deletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

livercarcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.454delA; p.K155fs*12; 6:113860034-113860034

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.994G>C; p.E332Q; 6:113860574-113860574

urinary_tract; bladdercarcinomaSubstitution - Missense

c.811G>T; p.E271*; 6:113860391-113860391

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.492C>T; p.F164F; 6:113860072-113860072

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.492C>T; p.F164F; 6:113860072-113860072

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.872C>T; p.P291L; 6:113860452-113860452

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.453_454insAA; p.K156fs*12; 6:113860033-113860034

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.54G>C; p.R18S; 6:113857799-113857799

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.973_974insC; p.A328fs*>6; 6:113860553-113860554

large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.973_974insC; p.A328fs*>6; 6:113860553-113860554

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.454_455delAA; p.K155fs*28; 6:113860034-113860035

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.454_455delAA; p.K155fs*28; 6:113860034-113860035

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.941C>T; p.S314L; 6:113860521-113860521

breastcarcinomaSubstitution - Missense


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