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

Basic Information

Gene ID

283120

Name

H19

Synonymous

H19, imprinted maternally expressed transcript (non-protein coding);H19;H19, imprinted maternally expressed transcript (non-protein coding)

Definition

H19, imprinted maternally expressed untranslated mRNA|long intergenic non-protein coding RNA 8

Position

11p15.5

Gene Type

ncRNA

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

There is no record for H19

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 0.00.

The copy number variations for various cancers

Top

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.131G>C; p.R44T; 11:1997087-1997087

breastcarcinomaSubstitution - Missense

c.436_437delTG; p.C146fs*28; 11:1996781-1996782

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.329G>A; p.R110H; 11:1996889-1996889

pancreascarcinomaSubstitution - Missense

c.153C>G; p.L51L; 11:1997065-1997065

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.359C>T; p.A120V; 11:1996859-1996859

pancreascarcinomaSubstitution - Missense

c.701C>G; p.A234G; 11:1996421-1996421

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.490G>A; p.G164R; 11:1996728-1996728

livercarcinomaSubstitution - Missense

c.280G>A; p.V94I; 11:1996938-1996938

breastcarcinomaSubstitution - Missense


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