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

Basic Information

Gene ID

1473

Name

CST5

Synonymous

cystatin D;CST5;cystatin D

Definition

cystatin 5|cystatin-5|cystatin-D|cysteine-proteinase inhibitor

Position

20p11.21

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 0.04.

The copy number variations for various cancers

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There is no record for CST5

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.345G>C; p.E115D; 20:23877505-23877505

 skin; extremitymalignant_melanomaSubstitution - Missense

c.413A>G; p.K138R; 20:23876204-23876204

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.136T>C; p.C46R; 20:23879541-23879541

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.136T>C; p.C46R; 20:23879541-23879541

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.136T>C; p.C46R; 20:23879541-23879541

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.136T>C; p.C46R; 20:23879541-23879541

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.136T>C; p.C46R; 20:23879541-23879541

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.392A>C; p.K131T; 20:23876225-23876225

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.388G>A; p.D130N; 20:23876229-23876229

 skinmalignant_melanomaSubstitution - Missense

c.255C>T; p.Y85Y; 20:23877595-23877595

 breastcarcinomaSubstitution - coding silent

c.90G>A; p.L30L; 20:23879587-23879587

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.275G>A; p.R92Q; 20:23877575-23877575

 skinmalignant_melanomaSubstitution - Missense

c.71C>T; p.S24L; 20:23879606-23879606

 livercarcinomaSubstitution - Missense

c.424G>C; p.V142L; 20:23876193-23876193

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.154A>G; p.I52V; 20:23879523-23879523

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.243G>T; p.G81G; 20:23877607-23877607

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.243G>T; p.G81G; 20:23877607-23877607

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.176T>C; p.I59T; 20:23879501-23879501

 skin; scalpmalignant_melanomaSubstitution - Missense

c.7T>A; p.W3R; 20:23879670-23879670

 livercarcinomaSubstitution - Missense

c.7T>A; p.W3R; 20:23879670-23879670

 livercarcinomaSubstitution - Missense

c.7T>A; p.W3R; 20:23879670-23879670

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.71C>A; p.S24*; 20:23879606-23879606

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.131T>C; p.V44A; 20:23879546-23879546

 livercarcinomaSubstitution - Missense

c.336A>C; p.K112N; 20:23877514-23877514

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.330G>A; p.Q110Q; 20:23877520-23877520

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.176T>G; p.I59S; 20:23879501-23879501

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.176T>G; p.I59S; 20:23879501-23879501

 large_intestine; coloncarcinomaSubstitution - Missense

c.176T>G; p.I59S; 20:23879501-23879501

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.266A>C; p.K89T; 20:23877584-23877584

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.41C>T; p.A14V; 20:23879636-23879636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.419G>A; p.R140Q; 20:23876198-23876198

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.184G>A; p.D62N; 20:23879493-23879493

 breastcarcinomaSubstitution - Missense

c.176T>A; p.I59N; 20:23879501-23879501

 soft_tissue; blood_vesselangiosarcomaSubstitution - Missense

c.183G>T; p.K61N; 20:23879494-23879494

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.274C>T; p.R92*; 20:23877576-23877576

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.379C>T; p.P127S; 20:23876238-23876238

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.155T>A; p.I52N; 20:23879522-23879522

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.242G>A; p.G81E; 20:23877608-23877608

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.20C>T; p.T7I; 20:23879657-23879657

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.83G>A; p.R28K; 20:23879594-23879594

 skinmalignant_melanomaSubstitution - Missense

c.403C>A; p.L135M; 20:23876214-23876214

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.149T>A; p.F50Y; 20:23879528-23879528

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.403C>A; p.L135M; 20:23876214-23876214

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.115C>T; p.L39F; 20:23879562-23879562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.321C>A; p.F107L; 20:23877529-23877529

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.243G>A; p.G81G; 20:23877607-23877607

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.205C>A; p.L69M; 20:23879472-23879472

 ovaryother; neoplasmSubstitution - Missense

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