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

Basic Information

Gene ID

55630

Name

SLC39A4

Synonymous

solute carrier family 39 (zinc transporter), member 4;SLC39A4;solute carrier family 39 (zinc transporter), member 4

Definition

zinc transporter ZIP4|zrt- and Irt-like protein 4

Position

8q24.3

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 0.03.

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.1822G>A; p.A608T; 8:144412660-144412660

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.499C>T; p.L167L; 8:144415395-144415395

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.284G>A; p.R95H; 8:144416000-144416000

 oesophaguscarcinomaSubstitution - Missense

c.297C>T; p.A99A; 8:144415987-144415987

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.869C>T; p.P290L; 8:144414832-144414832

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.850G>A; p.E284K; 8:144414851-144414851

 breastcarcinomaSubstitution - Missense

c.1864C>T; p.L622L; 8:144412618-144412618

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.293C>T; p.A98V; 8:144415991-144415991

 ovaryother; neoplasmSubstitution - Missense

c.1321C>T; p.H441Y; 8:144413848-144413848

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1321C>T; p.H441Y; 8:144413848-144413848

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1796A>G; p.Y599C; 8:144412778-144412778

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.79G>A; p.G27S; 8:144416711-144416711

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1002G>T; p.T334T; 8:144414409-144414409

 thyroidother; neoplasmSubstitution - coding silent

c.59C>T; p.A20V; 8:144416731-144416731

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.82C>A; p.L28M; 8:144416708-144416708

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.766C>T; p.L256F; 8:144415012-144415012

 skinmalignant_melanomaSubstitution - Missense

c.1860C>T; p.L620L; 8:144412622-144412622

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1383G>A; p.Q461Q; 8:144413786-144413786

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1754G>T; p.S585I; 8:144412820-144412820

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.90_101del12; p.L31_S34delLLTS; 8:144416689-144416700

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - In frame

c.251C>T; p.P84L; 8:144416033-144416033

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.764C>A; p.P255H; 8:144415014-144415014

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.519G>C; p.A173A; 8:144415375-144415375

 ovaryother; neoplasmSubstitution - coding silent

c.1066delG; p.V356fs*10; 8:144414345-144414345

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1818C>A; p.L606L; 8:144412664-144412664

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1526T>C; p.F509S; 8:144413338-144413338

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.609G>A; p.Q203Q; 8:144415285-144415285

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.779G>A; p.S260N; 8:144414999-144414999

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1890C>T; p.G630G; 8:144412592-144412592

 prostatecarcinomaSubstitution - coding silent

c.1710C>A; p.F570L; 8:144412864-144412864

 livercarcinomaSubstitution - Missense

c.1710C>A; p.F570L; 8:144412864-144412864

 livercarcinomaSubstitution - Missense

c.1142C>T; p.T381M; 8:144414269-144414269

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.22G>A; p.E8K; 8:144416768-144416768

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1880G>C; p.G627A; 8:144412602-144412602

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1399G>C; p.E467Q; 8:144413770-144413770

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.94C>G; p.L32V; 8:144416696-144416696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1931A>G; p.D644G; 8:144412551-144412551

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1008C>T; p.L336L; 8:144414403-144414403

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1546G>T; p.G516C; 8:144413318-144413318

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.710C>T; p.A237V; 8:144415068-144415068

 skinmalignant_melanomaSubstitution - Missense

c.1300G>A; p.G434R; 8:144413869-144413869

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1810G>A; p.D604N; 8:144412764-144412764

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.1396_1397insC; p.H466fs*20; 8:144413772-144413773

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1069A>G; p.T357A; 8:144414342-144414342

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1069A>G; p.T357A; 8:144414342-144414342

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1069A>G; p.T357A; 8:144414342-144414342

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.225C>T; p.G75G; 8:144416059-144416059

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1069A>G; p.T357A; 8:144414342-144414342

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1451_1452CT>TC; p.P484L; 8:144413535-144413536

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1732G>A; p.A578T; 8:144412842-144412842

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.277G>A; p.V93I; 8:144416007-144416007

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1143G>A; p.T381T; 8:144414268-144414268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1711G>T; p.A571S; 8:144412863-144412863

 livercarcinomaSubstitution - Missense

c.1711G>T; p.A571S; 8:144412863-144412863

 livercarcinomaSubstitution - Missense

c.1367_1368delCC; p.P456fs*29; 8:144413801-144413802

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.252G>A; p.P84P; 8:144416032-144416032

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1710C>T; p.F570F; 8:144412864-144412864

 breastcarcinomaSubstitution - coding silent

c.543C>T; p.G181G; 8:144415351-144415351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.242G>A; p.G81E; 8:144416042-144416042

 skinmalignant_melanomaSubstitution - Missense

c.897C>T; p.A299A; 8:144414804-144414804

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.320C>T; p.P107L; 8:144415964-144415964

 skinmalignant_melanomaSubstitution - Missense

c.1845G>A; p.P615P; 8:144412637-144412637

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1769T>C; p.L590P; 8:144412805-144412805

 thyroidother; neoplasmSubstitution - Missense

c.1845G>A; p.P615P; 8:144412637-144412637

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.878G>C; p.W293S; 8:144414823-144414823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.878G>C; p.W293S; 8:144414823-144414823

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.112G>A; p.A38T; 8:144416678-144416678

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1662C>T; p.S554S; 8:144412912-144412912

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1272G>C; p.L424L; 8:144413973-144413973

 central_nervous_system; braingliomaSubstitution - coding silent

c.402G>A; p.K134K; 8:144415882-144415882

 skinmalignant_melanomaSubstitution - coding silent

c.1756G>A; p.E586K; 8:144412818-144412818

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.345G>A; p.R115R; 8:144415939-144415939

 skinmalignant_melanomaSubstitution - coding silent

c.1635C>T; p.F545F; 8:144412939-144412939

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1635C>T; p.F545F; 8:144412939-144412939

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.948C>G; p.P316P; 8:144414753-144414753

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1844C>A; p.P615Q; 8:144412638-144412638

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1694C>T; p.S565F; 8:144412880-144412880

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.540C>T; p.G180G; 8:144415354-144415354

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.977-4C>T; p.?; 8:144414438-144414438

 livercarcinomaUnknown

c.874G>A; p.A292T; 8:144414827-144414827

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.977-4C>T; p.?; 8:144414438-144414438

 livercarcinomaUnknown

c.803C>T; p.T268M; 8:144414975-144414975

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.803C>T; p.T268M; 8:144414975-144414975

 pancreascarcinomaSubstitution - Missense

c.798G>T; p.W266C; 8:144414980-144414980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1098C>A; p.S366R; 8:144414313-144414313

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1850C>T; p.P617L; 8:144412632-144412632

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.689G>A; p.R230H; 8:144415089-144415089

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.813G>A; p.L271L; 8:144414888-144414888

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.172G>A; p.A58T; 8:144416618-144416618

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.172G>A; p.A58T; 8:144416618-144416618

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.72G>A; p.P24P; 8:144416718-144416718

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1912_1914delCTG; p.L638delL; 8:144412568-144412570

 oesophaguscarcinoma; adenocarcinomaDeletion - In frame

c.1260C>A; p.F420L; 8:144413985-144413985

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.911A>T; p.Q304L; 8:144414790-144414790

 breastcarcinomaSubstitution - Missense

c.697delG; p.V233fs*39; 8:144415081-144415081

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.615C>T; p.F205F; 8:144415279-144415279

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.615C>T; p.F205F; 8:144415279-144415279

 skinmalignant_melanomaSubstitution - coding silent

c.1696G>A; p.A566T; 8:144412878-144412878

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1857C>T; p.L619L; 8:144412625-144412625

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.340G>A; p.A114T; 8:144415944-144415944

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.340G>A; p.A114T; 8:144415944-144415944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1910T>C; p.L637P; 8:144412572-144412572

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.340G>A; p.A114T; 8:144415944-144415944

 breastcarcinomaSubstitution - Missense

c.340G>A; p.A114T; 8:144415944-144415944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.340G>A; p.A114T; 8:144415944-144415944

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1264C>A; p.L422I; 8:144413981-144413981

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.132G>A; p.L44L; 8:144416658-144416658

 skinmalignant_melanomaSubstitution - coding silent

c.1474+2T>G; p.?; 8:144413511-144413511

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.398C>T; p.P133L; 8:144415886-144415886

 skinmalignant_melanomaSubstitution - Missense

c.87G>T; p.L29L; 8:144416703-144416703

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.279C>T; p.V93V; 8:144416005-144416005

 skinmalignant_melanomaSubstitution - coding silent

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