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

Basic Information

Gene ID

3814

Name

KISS1

Synonymous

KiSS-1 metastasis-suppressor;KISS1;KiSS-1 metastasis-suppressor

Definition

kisspeptin-1|malignant melanoma metastasis-suppressor|metastasis-suppressor KiSS-1|metastin|prepro-kisspeptin

Position

1q32

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 0.23.

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.230G>T; p.S77I; 1:204190671-204190671

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.95G>A; p.R32K; 1:204192782-204192782

 skinmalignant_melanomaSubstitution - Missense

c.206C>A; p.T69N; 1:204190695-204190695

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.363C>T; p.F121F; 1:204190538-204190538

 skinmalignant_melanomaSubstitution - coding silent

c.202_203GG>AA; p.G68K; 1:204190698-204190699

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 thyroidother; neoplasmSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 thyroidother; neoplasmSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 thyroidother; neoplasmSubstitution - Missense

c.242C>G; p.P81R; 1:204190659-204190659

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.50A>C; p.H17P; 1:204192827-204192827

 breastcarcinomaSubstitution - Missense

c.328C>A; p.P110T; 1:204190573-204190573

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.226G>C; p.E76Q; 1:204190675-204190675

 central_nervous_system; braingliomaSubstitution - Missense

c.417delA; p.*139fs?; 1:204190484-204190484

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaDeletion - Frameshift

c.417delA; p.*139fs?; 1:204190484-204190484

 breastcarcinomaDeletion - Frameshift

c.312G>T; p.Q104H; 1:204190589-204190589

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.417delA; p.*139fs?; 1:204190484-204190484

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.386G>A; p.G129E; 1:204190515-204190515

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.405_406ins20; p.?; 1:204190495-204190496

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaUnknown

c.179C>A; p.A60D; 1:204190722-204190722

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.48C>A; p.T16T; 1:204192829-204192829

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.126C>T; p.G42G; 1:204190775-204190775

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.64T>A; p.L22I; 1:204192813-204192813

 breastcarcinomaSubstitution - Missense

c.272G>A; p.S91N; 1:204190629-204190629

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.272G>A; p.S91N; 1:204190629-204190629

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.272G>A; p.S91N; 1:204190629-204190629

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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