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

Basic Information

Gene ID

4814

Name

NINJ1

Synonymous

ninjurin 1;NINJ1;ninjurin 1

Definition

nerve injury-induced protein 1|nerve injury-induced protein-1|ninjurin-1

Position

9q22

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 0.00.

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.454C>T; p.Q152*; 9:93124913-93124913

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.423C>A; p.V141V; 9:93124944-93124944

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.280G>A; p.V94M; 9:93126434-93126434

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.278G>A; p.G93D; 9:93126436-93126436

pancreascarcinomaSubstitution - Missense

c.278G>A; p.G93D; 9:93126436-93126436

pancreascarcinomaSubstitution - Missense

c.237C>T; p.P79P; 9:93126477-93126477

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.422T>C; p.V141A; 9:93124945-93124945

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.410C>T; p.T137M; 9:93124957-93124957

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.103C>T; p.P35S; 9:93126611-93126611

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.90C>T; p.G30G; 9:93126624-93126624

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.236C>A; p.P79H; 9:93126478-93126478

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.138C>T; p.S46S; 9:93126576-93126576

breastcarcinomaSubstitution - coding silent

c.304+2T>C; p.?; 9:93126408-93126408

pancreascarcinomaUnknown

c.304+2T>C; p.?; 9:93126408-93126408

pancreascarcinomaUnknown

c.64C>A; p.P22T; 9:93134154-93134154

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.337G>A; p.A113T; 9:93125030-93125030

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.V38M; 9:93126602-93126602

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.181G>A; p.A61T; 9:93126533-93126533

skinmalignant_melanomaSubstitution - Missense

c.224C>A; p.A75D; 9:93126490-93126490

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223G>A; p.A75T; 9:93126491-93126491

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.329C>A; p.A110D; 9:93125038-93125038

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.421G>A; p.V141I; 9:93124946-93124946

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense


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