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

Basic Information

Gene ID

6387

Name

CXCL12

Synonymous

chemokine (C-X-C motif) ligand 12;CXCL12;chemokine (C-X-C motif) ligand 12

Definition

intercrine reduced in hepatomas|pre-B cell growth-stimulating factor|stromal cell-derived factor 1

Position

10q11.1

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 0.25.

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.238C>T; p.Q80*; 10:44378665-44378665

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.248T>C; p.L83P; 10:44378655-44378655

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.158C>T; p.P53L; 10:44380784-44380784

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.185_186GG>AA; p.R62>?; 10:44378717-44378718

skin; trunkmalignant_melanomaComplex

c.232T>C; p.W78R; 10:44378671-44378671

pancreascarcinomaSubstitution - Missense

c.275A>G; p.K92R; 10:44373335-44373335

skinmalignant_melanomaSubstitution - Missense

c.48C>G; p.L16L; 10:44384958-44384958

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.205C>A; p.Q69K; 10:44378698-44378698

livercarcinomaSubstitution - Missense

c.205C>A; p.Q69K; 10:44378698-44378698

livercarcinomaSubstitution - Missense

c.69C>T; p.P23P; 10:44380873-44380873

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.74G>A; p.S25N; 10:44380868-44380868

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.250G>T; p.E84*; 10:44378653-44378653

livercarcinomaSubstitution - Nonsense

c.250G>T; p.E84*; 10:44378653-44378653

livercarcinomaSubstitution - Nonsense

c.125C>T; p.A42V; 10:44380817-44380817

skinmalignant_melanomaSubstitution - Missense

c.184C>T; p.R62W; 10:44378719-44378719

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.98G>A; p.R33Q; 10:44380844-44380844

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.179+4A>C; p.?; 10:44380759-44380759

oesophaguscarcinoma; adenocarcinomaUnknown

c.212G>A; p.C71Y; 10:44378691-44378691

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.223A>G; p.K75E; 10:44378680-44378680

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.162C>T; p.N54N; 10:44380780-44380780

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.169C>A; p.L57I; 10:44380773-44380773

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.33C>T; p.L11L; 10:44384973-44384973

skinmalignant_melanomaSubstitution - coding silent

c.62-1G>T; p.?; 10:44380881-44380881

skinmalignant_melanomaUnknown

c.235A>G; p.I79V; 10:44378668-44378668

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.222G>A; p.P74P; 10:44378681-44378681

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent


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