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 |
Loss of Function mutations compare to missense mutations | Top |
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 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 |
breast | carcinoma | Substitution - Missense |
c.436_437delTG; p.C146fs*28; 11:1996781-1996782 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.329G>A; p.R110H; 11:1996889-1996889 |
pancreas | carcinoma | Substitution - Missense |
c.153C>G; p.L51L; 11:1997065-1997065 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.359C>T; p.A120V; 11:1996859-1996859 |
pancreas | carcinoma | Substitution - Missense |
c.701C>G; p.A234G; 11:1996421-1996421 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.490G>A; p.G164R; 11:1996728-1996728 |
liver | carcinoma | Substitution - Missense |
c.280G>A; p.V94I; 11:1996938-1996938 |
breast | carcinoma | Substitution - Missense |