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

Basic Information

Gene ID

3483

Name

IGFALS

Synonymous

insulin-like growth factor binding protein, acid labile subunit;IGFALS;insulin-like growth factor binding protein, acid labile subunit

Definition

insulin-like growth factor binding protein complex acid labile chain|insulin-like growth factor-binding protein complex acid labile subunit

Position

16p13.3

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

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 0.12.

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.1599G>A; p.L533L; 16:1790819-1790819

 breastcarcinomaSubstitution - coding silent

c.439G>A; p.A147T; 16:1791979-1791979

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.964G>T; p.G322C; 16:1791454-1791454

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.606G>A; p.A202A; 16:1791812-1791812

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1452C>A; p.A484A; 16:1790966-1790966

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.313C>A; p.L105M; 16:1792105-1792105

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1791C>T; p.L597L; 16:1790627-1790627

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.112G>A; p.G38S; 16:1792306-1792306

 skinmalignant_melanomaSubstitution - Missense

c.244G>A; p.D82N; 16:1792174-1792174

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.391C>A; p.R131R; 16:1792027-1792027

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1072T>G; p.F358V; 16:1791346-1791346

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.198G>A; p.T66T; 16:1792220-1792220

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1428C>T; p.D476D; 16:1790990-1790990

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.450G>A; p.S150S; 16:1791968-1791968

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1566G>A; p.T522T; 16:1790852-1790852

 thyroidother; neoplasmSubstitution - coding silent

c.1566G>A; p.T522T; 16:1790852-1790852

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1145T>C; p.F382S; 16:1791273-1791273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.917G>A; p.R306Q; 16:1791501-1791501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.854C>T; p.T285M; 16:1791564-1791564

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.54G>A; p.V18V; 16:1792364-1792364

 skinmalignant_melanomaSubstitution - coding silent

c.805C>T; p.R269*; 16:1791613-1791613

 breastcarcinomaSubstitution - Nonsense

c.1169G>A; p.S390N; 16:1791249-1791249

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.670G>A; p.D224N; 16:1791748-1791748

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1386C>T; p.Y462Y; 16:1791032-1791032

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.Y462Y; 16:1791032-1791032

 breastcarcinomaSubstitution - coding silent

c.1414G>A; p.E472K; 16:1791004-1791004

 skinmalignant_melanomaSubstitution - Missense

c.1386C>T; p.Y462Y; 16:1791032-1791032

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1386C>T; p.Y462Y; 16:1791032-1791032

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.844C>T; p.L282L; 16:1791574-1791574

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.392G>A; p.R131Q; 16:1792026-1792026

 large_intestine; coloncarcinomaSubstitution - Missense

c.392G>A; p.R131Q; 16:1792026-1792026

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1299G>A; p.L433L; 16:1791119-1791119

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.958C>T; p.Q320*; 16:1791460-1791460

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1400G>A; p.R467H; 16:1791018-1791018

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.829C>T; p.R277C; 16:1791589-1791589

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1139A>C; p.Q380P; 16:1791279-1791279

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.364G>C; p.E122Q; 16:1792054-1792054

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1445A>T; p.Q482L; 16:1790973-1790973

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1050C>G; p.L350L; 16:1791368-1791368

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1050C>G; p.L350L; 16:1791368-1791368

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1341G>A; p.T447T; 16:1791077-1791077

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1547A>G; p.N516S; 16:1790871-1790871

 prostatecarcinomaSubstitution - Missense

c.1719G>A; p.P573P; 16:1790699-1790699

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.690G>A; p.L230L; 16:1791728-1791728

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.157G>A; p.A53T; 16:1792261-1792261

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157G>A; p.A53T; 16:1792261-1792261

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1068C>T; p.G356G; 16:1791350-1791350

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1068C>T; p.G356G; 16:1791350-1791350

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.801G>A; p.A267A; 16:1791617-1791617

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.223G>A; p.G75S; 16:1792195-1792195

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1556G>A; p.R519Q; 16:1790862-1790862

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1239_1241delCCG; p.R414delR; 16:1791177-1791179

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.1267G>A; p.V423M; 16:1791151-1791151

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.811C>G; p.L271V; 16:1791607-1791607

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1620T>C; p.C540C; 16:1790798-1790798

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.197C>T; p.T66M; 16:1792221-1792221

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.211G>A; p.G71R; 16:1792207-1792207

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1109C>G; p.S370C; 16:1791309-1791309

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.894C>T; p.S298S; 16:1791524-1791524

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 breastcarcinomaSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 thyroidother; neoplasmSubstitution - coding silent

c.210T>C; p.D70D; 16:1792208-1792208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.923G>A; p.R308H; 16:1791495-1791495

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1124G>A; p.R375Q; 16:1791294-1791294

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1009C>T; p.L337L; 16:1791409-1791409

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1761C>T; p.P587P; 16:1790657-1790657

 prostatecarcinomaSubstitution - coding silent

c.303C>T; p.G101G; 16:1792115-1792115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1777G>A; p.D593N; 16:1790641-1790641

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.714C>T; p.F238F; 16:1791704-1791704

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.999C>G; p.S333R; 16:1791419-1791419

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.855G>A; p.T285T; 16:1791563-1791563

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.727C>G; p.R243G; 16:1791691-1791691

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1784G>A; p.R595Q; 16:1790634-1790634

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1064C>T; p.A355V; 16:1791354-1791354

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1020T>C; p.L340L; 16:1791398-1791398

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1287C>G; p.S429R; 16:1791131-1791131

 breastcarcinomaSubstitution - Missense

c.989C>G; p.A330G; 16:1791429-1791429

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1535G>A; p.S512N; 16:1790883-1790883

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.860C>T; p.P287L; 16:1791558-1791558

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.549G>A; p.A183A; 16:1791869-1791869

 pancreascarcinomaSubstitution - coding silent

c.1340C>T; p.T447M; 16:1791078-1791078

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1555C>T; p.R519W; 16:1790863-1790863

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1346T>C; p.L449P; 16:1791072-1791072

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.E222K; 16:1791754-1791754

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1166A>C; p.H389P; 16:1791252-1791252

 thyroidother; neoplasmSubstitution - Missense

c.1312G>A; p.E438K; 16:1791106-1791106

 skinmalignant_melanomaSubstitution - Missense

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