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

Basic Information

Gene ID

55450

Name

CAMK2N1

Synonymous

calcium/calmodulin-dependent protein kinase II inhibitor 1;CAMK2N1;calcium/calmodulin-dependent protein kinase II inhibitor 1

Definition

CaMKIINalpha|caMKII inhibitory protein alpha|caMKIIN-alpha

Position

1p36.12

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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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.109G>C; p.G37R; 1:20485271-20485271

 ovaryother; neoplasmSubstitution - Missense

c.142G>T; p.G48C; 1:20485238-20485238

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.142G>T; p.G48C; 1:20485238-20485238

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.142G>T; p.G48C; 1:20485238-20485238

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.164G>A; p.R55Q; 1:20485216-20485216

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.121A>G; p.N41D; 1:20485259-20485259

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.163C>T; p.R55W; 1:20485217-20485217

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.204A>G; p.K68K; 1:20483682-20483682

 pancreascarcinomaSubstitution - coding silent

c.204A>G; p.K68K; 1:20483682-20483682

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.195C>A; p.D65E; 1:20483691-20483691

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.181G>A; p.D61N; 1:20483705-20483705

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.219G>T; p.K73N; 1:20483667-20483667

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.40C>T; p.P14S; 1:20485340-20485340

 skinmalignant_melanomaSubstitution - Missense

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