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

Basic Information

Gene ID

1028

Name

CDKN1C

Synonymous

cyclin-dependent kinase inhibitor 1C (p57, Kip2);CDKN1C;cyclin-dependent kinase inhibitor 1C (p57, Kip2)

Definition

cyclin-dependent kinase inhibitor 1C|cyclin-dependent kinase inhibitor p57

Position

11p15.5

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

Top

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 0.25.

The copy number variations for various cancers

Top

There is no record for CDKN1C

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.776C>A; p.A259D; 11:2884714-2884714

livercarcinomaSubstitution - Missense

c.135_136insT; p.L46fs*79; 11:2885354-2885355

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaInsertion - Frameshift

c.768C>T; p.A256A; 11:2884722-2884722

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.466C>A; p.P156T; 11:2885024-2885024

thyroidother; neoplasmSubstitution - Missense

c.147C>T; p.R49R; 11:2885343-2885343

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.496G>C; p.A166P; 11:2884994-2884994

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.805G>A; p.G269R; 11:2884685-2884685

livercarcinomaSubstitution - Missense

c.303C>T; p.R101R; 11:2885187-2885187

ovaryother; neoplasmSubstitution - coding silent

c.735G>A; p.G245G; 11:2884755-2884755

skinmalignant_melanomaSubstitution - coding silent

c.262C>T; p.P88S; 11:2885228-2885228

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.205A>G; p.M69V; 11:2885285-2885285

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.48C>T; p.V16V; 11:2885442-2885442

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.196delC; p.Q66fs*206; 11:2885294-2885294

prostateadenomaDeletion - Frameshift

c.182G>A; p.W61*; 11:2885308-2885308

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.908G>T; p.G303V; 11:2884047-2884047

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.171C>A; p.D57E; 11:2885319-2885319

thyroidother; neoplasmSubstitution - Missense

c.102C>T; p.F34F; 11:2885388-2885388

skinmalignant_melanomaSubstitution - coding silent


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