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

Basic Information

Gene ID

5048

Name

PAFAH1B1

Synonymous

platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa);PAFAH1B1;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

Definition

lissencephaly 1 protein|platelet-activating factor acetylhydrolase IB subunit alpha|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)

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

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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 0.21.

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.293C>T; p.P98L; 17:2667092-2667092

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1024C>T; p.R342C; 17:2680185-2680185

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.628G>C; p.A210P; 17:2672714-2672714

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1178C>T; p.P393L; 17:2681747-2681747

 skinmalignant_melanomaSubstitution - Missense

c.1039C>T; p.H347Y; 17:2680200-2680200

 skinmalignant_melanomaSubstitution - Missense

c.616C>T; p.H206Y; 17:2672702-2672702

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.344_358del15; p.F116_F120delFHPVF; 17:2667143-2667157

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.703G>A; p.E235K; 17:2674091-2674091

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.603G>T; p.M201I; 17:2672689-2672689

 breastcarcinomaSubstitution - Missense

c.1062G>T; p.L354F; 17:2680223-2680223

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.58C>T; p.R20C; 17:2665397-2665397

 skinmalignant_melanomaSubstitution - Missense

c.430C>T; p.R144*; 17:2670193-2670193

 breastcarcinomaSubstitution - Nonsense

c.296C>T; p.P99L; 17:2667095-2667095

 NSmalignant_melanomaSubstitution - Missense

c.296C>T; p.P99L; 17:2667095-2667095

 NSmalignant_melanomaSubstitution - Missense

c.678T>C; p.C226C; 17:2674066-2674066

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1047G>A; p.G349G; 17:2680208-2680208

 skinmalignant_melanomaSubstitution - coding silent

c.76G>A; p.E26K; 17:2665415-2665415

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.977G>A; p.S326N; 17:2676581-2676581

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.281G>A; p.W94*; 17:2667080-2667080

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.281G>A; p.W94*; 17:2667080-2667080

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.307G>C; p.A103P; 17:2667106-2667106

 skinmalignant_melanomaSubstitution - Missense

c.382G>A; p.E128K; 17:2667181-2667181

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.352C>T; p.P118S; 17:2667151-2667151

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.352C>T; p.P118S; 17:2667151-2667151

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.170C>G; p.S57C; 17:2666068-2666068

 breastcarcinomaSubstitution - Missense

c.1002+1G>A; p.?; 17:2676607-2676607

 stomachcarcinoma; adenocarcinomaUnknown

c.411T>C; p.Y137Y; 17:2670174-2670174

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.220G>A; p.E74K; 17:2667019-2667019

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.154_155insA; p.W55fs*6; 17:2666052-2666053

 autonomic_ganglianeuroblastomaInsertion - Frameshift

c.324G>A; p.R108R; 17:2667123-2667123

 skinmalignant_melanomaSubstitution - coding silent

c.904delA; p.S304fs*29; 17:2676508-2676508

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.904delA; p.S304fs*29; 17:2676508-2676508

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1112G>A; p.R371Q; 17:2680273-2680273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.370G>A; p.V124I; 17:2667169-2667169

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.437delT; p.G148fs*25; 17:2670200-2670200

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.849C>T; p.S283S; 17:2674237-2674237

 skin; armmalignant_melanomaSubstitution - coding silent

c.646A>G; p.I216V; 17:2672732-2672732

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.23G>A; p.R8Q; 17:2638311-2638311

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.640A>G; p.K214E; 17:2672726-2672726

 central_nervous_system; braingliomaSubstitution - Missense

c.721C>T; p.R241W; 17:2674109-2674109

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.4G>T; p.V2L; 17:2638292-2638292

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1118T>C; p.M373T; 17:2680279-2680279

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.192G>A; p.K64K; 17:2666090-2666090

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.288C>T; p.P96P; 17:2667087-2667087

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1088G>A; p.R363H; 17:2680249-2680249

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.641A>C; p.K214T; 17:2672727-2672727

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.305A>G; p.Y102C; 17:2667104-2667104

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144Q; 17:2670194-2670194

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1051A>G; p.K351E; 17:2680212-2680212

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.59G>A; p.R20H; 17:2665398-2665398

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.239C>T; p.T80M; 17:2667038-2667038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.155delA; p.K54fs*15; 17:2666053-2666053

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.155delA; p.K54fs*15; 17:2666053-2666053

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.277G>T; p.E93*; 17:2667076-2667076

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.899A>C; p.E300A; 17:2674287-2674287

 kidneyother; neoplasmSubstitution - Missense

c.212A>G; p.K71R; 17:2667011-2667011

 large_intestine; colonNSSubstitution - Missense

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