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

Basic Information

Gene ID

9516

Name

LITAF

Synonymous

lipopolysaccharide-induced TNF factor;LITAF;lipopolysaccharide-induced TNF factor

Definition

LPS-induced TNF-alpha factor|lipopolysaccharide-induced TNF-alpha factor|lipopolysaccharide-induced tumor necrosis factor-alpha factor|p53-induced gene 7 protein|small integral membrane protein of lysosome/late endosome|tumor protein p53 inducible protein

Position

16p13.13

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 0.22.

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.66C>T; p.S22S; 16:11556665-11556665

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.370C>A; p.L124M; 16:11553540-11553540

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.190C>A; p.Q64K; 16:11556541-11556541

skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.180G>A; p.S60S; 16:11556551-11556551

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.180G>A; p.S60S; 16:11556551-11556551

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.101C>A; p.P34H; 16:11556630-11556630

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.214A>T; p.N72Y; 16:11556517-11556517

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.324delC; p.Y109fs*6; 16:11553586-11553586

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.324delC; p.Y109fs*6; 16:11553586-11553586

livercarcinoma; hepatocellular_carcinomaDeletion - Frameshift

c.411C>T; p.C137C; 16:11549712-11549712

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.415G>T; p.D139Y; 16:11549708-11549708

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.42C>A; p.S14S; 16:11556689-11556689

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.51_59delATCCGCACC; p.S18_P20delSAP; 16:11556672-11556680

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.454A>G; p.R152G; 16:11549669-11549669

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.359G>A; p.G120E; 16:11553551-11553551

kidneyother; neoplasmSubstitution - Missense

c.226G>A; p.V76M; 16:11553684-11553684

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.136G>T; p.G46W; 16:11556595-11556595

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.372G>A; p.L124L; 16:11553538-11553538

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.240C>T; p.Y80Y; 16:11553670-11553670

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.309C>T; p.I103I; 16:11553601-11553601

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent


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