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

Basic Information

Gene ID

3090

Name

HIC1

Synonymous

hypermethylated in cancer 1;HIC1;hypermethylated in cancer 1

Definition

hypermethylated in cancer 1 protein|zinc finger and BTB domain-containing protein 29

Position

17p13.3

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

Top

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.189C>A; p.L63L; 17:2056879-2056879

 kidneyother; neoplasmSubstitution - coding silent

c.303G>A; p.P101P; 17:2056993-2056993

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1597C>T; p.R533C; 17:2058287-2058287

 livercarcinomaSubstitution - Missense

c.1597C>T; p.R533C; 17:2058287-2058287

 livercarcinomaSubstitution - Missense

c.1732G>A; p.G578S; 17:2058422-2058422

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.277G>A; p.A93T; 17:2056967-2056967

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.274G>A; p.E92K; 17:2056964-2056964

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1176G>A; p.P392P; 17:2057866-2057866

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1591A>G; p.M531V; 17:2058281-2058281

 livercarcinomaSubstitution - Missense

c.1681G>A; p.E561K; 17:2058371-2058371

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.990C>T; p.R330R; 17:2057680-2057680

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.894_895insC; p.G301fs*7; 17:2057584-2057585

 large_intestine; rectumcarcinoma; adenocarcinomaInsertion - Frameshift

c.1754G>A; p.R585H; 17:2058444-2058444

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1299G>A; p.L433L; 17:2057989-2057989

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1413G>A; p.G471G; 17:2058103-2058103

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1155T>C; p.G385G; 17:2057845-2057845

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.84C>T; p.C28C; 17:2056774-2056774

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.122C>T; p.A41V; 17:2056812-2056812

 prostatecarcinomaSubstitution - Missense

c.1175C>T; p.P392L; 17:2057865-2057865

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1175C>T; p.P392L; 17:2057865-2057865

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1380C>T; p.A460A; 17:2058070-2058070

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1380C>T; p.A460A; 17:2058070-2058070

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1814C>T; p.A605V; 17:2058504-2058504

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1471G>A; p.A491T; 17:2058161-2058161

 livercarcinomaSubstitution - Missense

c.1471G>A; p.A491T; 17:2058161-2058161

 livercarcinomaSubstitution - Missense

c.1471G>A; p.A491T; 17:2058161-2058161

 livercarcinomaSubstitution - Missense

c.1122C>T; p.G374G; 17:2057812-2057812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1122C>T; p.G374G; 17:2057812-2057812

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1305G>A; p.A435A; 17:2057995-2057995

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1373C>A; p.A458D; 17:2058063-2058063

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1373C>A; p.A458D; 17:2058063-2058063

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.278C>T; p.A93V; 17:2056968-2056968

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1265C>T; p.P422L; 17:2057955-2057955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1782C>T; p.H594H; 17:2058472-2058472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1309G>A; p.V437M; 17:2057999-2057999

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1952C>T; p.A651V; 17:2058642-2058642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1448A>T; p.E483V; 17:2058138-2058138

 pancreascarcinomaSubstitution - Missense

c.142G>A; p.A48T; 17:2056832-2056832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1444G>A; p.G482R; 17:2058134-2058134

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1672C>T; p.R558C; 17:2058362-2058362

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1255G>A; p.V419M; 17:2057945-2057945

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1680G>A; p.T560T; 17:2058370-2058370

 skinmalignant_melanomaSubstitution - coding silent

c.1680G>A; p.T560T; 17:2058370-2058370

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.256C>T; p.R86C; 17:2056946-2056946

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1329delG; p.E444fs*20; 17:2058019-2058019

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1735G>A; p.G579S; 17:2058425-2058425

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1562G>A; p.C521Y; 17:2058252-2058252

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2001G>A; p.V667V; 17:2058691-2058691

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1705G>A; p.E569K; 17:2058395-2058395

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1346G>A; p.G449D; 17:2058036-2058036

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.146G>A; p.S49N; 17:2056836-2056836

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.1121G>A; p.G374D; 17:2057811-2057811

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.147C>T; p.S49S; 17:2056837-2056837

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1051C>G; p.P351A; 17:2057741-2057741

 thyroidother; neoplasmSubstitution - Missense

c.1564G>A; p.G522R; 17:2058254-2058254

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1195G>A; p.G399S; 17:2057885-2057885

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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