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

Basic Information

Gene ID

27173

Name

SLC39A1

Synonymous

solute carrier family 39 (zinc transporter), member 1;SLC39A1;solute carrier family 39 (zinc transporter), member 1

Definition

solute carrier family 39 (zinc transporter), member 3|zinc transporter ZIP1|zrt- and Irt-like protein 1

Position

1q21

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 0.12.

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.915G>T; p.K305N; 1:153960158-153960158

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.488C>T; p.P163L; 1:153960585-153960585

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.14G>A; p.G5E; 1:153962702-153962702

 breastcarcinomaSubstitution - Missense

c.394G>A; p.A132T; 1:153960679-153960679

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.154C>T; p.L52L; 1:153962562-153962562

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.244G>A; p.A82T; 1:153962294-153962294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.735C>T; p.L245L; 1:153960338-153960338

 skinmalignant_melanomaSubstitution - coding silent

c.906G>A; p.R302R; 1:153960167-153960167

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.527_541del15; p.S176_A180delSALRA; 1:153960532-153960546

 livercarcinomaDeletion - In frame

c.919A>T; p.I307F; 1:153960154-153960154

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328C>T; p.P110S; 1:153960745-153960745

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.669C>T; p.V223V; 1:153960404-153960404

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.233_234insG; p.V79fs*13; 1:153962304-153962305

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.590C>T; p.A197V; 1:153960483-153960483

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.590C>T; p.A197V; 1:153960483-153960483

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.888_889GG>TT; p.L296>?; 1:153960184-153960185

 lungcarcinoma; adenocarcinomaComplex

c.527C>T; p.S176L; 1:153960546-153960546

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.337G>T; p.E113*; 1:153960736-153960736

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.255C>T; p.L85L; 1:153962283-153962283

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.213A>G; p.L71L; 1:153962325-153962325

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.364C>G; p.L122V; 1:153960709-153960709

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.826G>A; p.E276K; 1:153960247-153960247

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.633C>T; p.C211C; 1:153960440-153960440

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.649C>T; p.H217Y; 1:153960424-153960424

 skinmalignant_melanomaSubstitution - Missense

c.646C>T; p.L216F; 1:153960427-153960427

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.306C>A; p.A102A; 1:153962232-153962232

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.522C>A; p.T174T; 1:153960551-153960551

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.194G>A; p.R65H; 1:153962344-153962344

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.896C>A; p.S299Y; 1:153960177-153960177

 skinmalignant_melanomaSubstitution - Missense

c.158G>A; p.R53H; 1:153962558-153962558

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.112C>G; p.L38V; 1:153962604-153962604

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.600G>A; p.L200L; 1:153960473-153960473

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.811G>A; p.A271T; 1:153960262-153960262

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.827A>G; p.E276G; 1:153960246-153960246

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.617G>A; p.R206Q; 1:153960456-153960456

 central_nervous_system; braingliomaSubstitution - Missense

c.225C>T; p.F75F; 1:153962313-153962313

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.932C>A; p.A311E; 1:153960141-153960141

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.176A>G; p.H59R; 1:153962540-153962540

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.425T>C; p.L142P; 1:153960648-153960648

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.610C>T; p.R204W; 1:153960463-153960463

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.167G>A; p.G56E; 1:153962549-153962549

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.648C>T; p.L216L; 1:153960425-153960425

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.485G>A; p.G162E; 1:153960588-153960588

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.807G>A; p.Q269Q; 1:153960266-153960266

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.877C>A; p.P293T; 1:153960196-153960196

 prostateadenomaSubstitution - Missense

c.579C>T; p.F193F; 1:153960494-153960494

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.591G>A; p.A197A; 1:153960482-153960482

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.770G>A; p.G257D; 1:153960303-153960303

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.110T>C; p.L37P; 1:153962606-153962606

 breastcarcinomaSubstitution - Missense

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