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

Basic Information

Gene ID

1490

Name

CTGF

Synonymous

connective tissue growth factor;CTGF;connective tissue growth factor

Definition

CCN family member 2|IBP-8|IGF-binding protein 8|IGFBP-8|hypertrophic chondrocyte-specific protein 24|insulin-like growth factor-binding protein 8

Position

6q23.1

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

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 0.03.

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.544T>C; p.Y182H; 6:131950158-131950158

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.835T>C; p.Y279H; 6:131949479-131949479

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.30C>T; p.R10R; 6:131951143-131951143

 livercarcinomaSubstitution - coding silent

c.30C>T; p.R10R; 6:131951143-131951143

 livercarcinomaSubstitution - coding silent

c.773G>A; p.R258H; 6:131949541-131949541

 breastcarcinomaSubstitution - Missense

c.1042A>G; p.M348V; 6:131949272-131949272

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.880A>C; p.T294P; 6:131949434-131949434

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.937A>G; p.M313V; 6:131949377-131949377

 stomachadenocarcinomaSubstitution - Missense

c.638G>T; p.C213F; 6:131950064-131950064

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1036G>A; p.G346R; 6:131949278-131949278

 skinmalignant_melanomaSubstitution - Missense

c.1036G>A; p.G346R; 6:131949278-131949278

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.168C>T; p.C56C; 6:131950891-131950891

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.566G>A; p.G189D; 6:131950136-131950136

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.886delC; p.H296fs*18; 6:131949428-131949428

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.583A>G; p.I195V; 6:131950119-131950119

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.553G>C; p.E185Q; 6:131950149-131950149

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.786C>A; p.I262I; 6:131949528-131949528

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1005C>A; p.I335I; 6:131949309-131949309

 breastcarcinomaSubstitution - coding silent

c.744G>A; p.E248E; 6:131949958-131949958

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.689T>C; p.L230P; 6:131950013-131950013

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.390G>T; p.A130A; 6:131950443-131950443

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.390G>T; p.A130A; 6:131950443-131950443

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.921C>T; p.C307C; 6:131949393-131949393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.731C>T; p.A244V; 6:131949971-131949971

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.484G>A; p.E162K; 6:131950349-131950349

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.484G>A; p.E162K; 6:131950349-131950349

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.677C>T; p.A226V; 6:131950025-131950025

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.945_947delGAA; p.K315delK; 6:131949367-131949369

 bone; tibiaother; chondroblastomaDeletion - In frame

c.1040A>G; p.D347G; 6:131949274-131949274

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1013C>T; p.S338L; 6:131949301-131949301

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.849C>A; p.F283L; 6:131949465-131949465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.821C>T; p.T274I; 6:131949493-131949493

 ovarycarcinomaSubstitution - Missense

c.1000G>A; p.D334N; 6:131949314-131949314

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.907G>T; p.V303L; 6:131949407-131949407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.907G>T; p.V303L; 6:131949407-131949407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.907G>T; p.V303L; 6:131949407-131949407

 breastcarcinomaSubstitution - Missense

c.907G>T; p.V303L; 6:131949407-131949407

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.907G>T; p.V303L; 6:131949407-131949407

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1012T>C; p.S338P; 6:131949302-131949302

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.240A>C; p.L80L; 6:131950819-131950819

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.240A>C; p.L80L; 6:131950819-131950819

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.424C>T; p.R142C; 6:131950409-131950409

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1029G>C; p.K343N; 6:131949285-131949285

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.247C>G; p.H83D; 6:131950812-131950812

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.771C>T; p.I257I; 6:131949543-131949543

 skinmalignant_melanomaSubstitution - coding silent

c.537C>T; p.L179L; 6:131950296-131950296

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.771C>T; p.I257I; 6:131949543-131949543

 skinmalignant_melanomaSubstitution - coding silent

c.537C>T; p.L179L; 6:131950296-131950296

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.931G>A; p.E311K; 6:131949383-131949383

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.691G>C; p.E231Q; 6:131950011-131950011

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.691G>C; p.E231Q; 6:131950011-131950011

 breastcarcinomaSubstitution - Missense

c.606G>T; p.Q202H; 6:131950096-131950096

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.691G>T; p.E231*; 6:131950011-131950011

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Nonsense

c.511G>T; p.D171Y; 6:131950322-131950322

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.665C>A; p.T222N; 6:131950037-131950037

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.648C>T; p.G216G; 6:131950054-131950054

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.518C>T; p.T173I; 6:131950315-131950315

 pancreascarcinomaSubstitution - Missense

c.794C>T; p.P265L; 6:131949520-131949520

 livercarcinomaSubstitution - Missense

c.794C>T; p.P265L; 6:131949520-131949520

 livercarcinomaSubstitution - Missense

c.814G>T; p.G272C; 6:131949500-131949500

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.966C>A; p.T322T; 6:131949348-131949348

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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