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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

1994

Name

ELAVL1

Synonymous

ELAV like RNA binding protein 1;ELAVL1;ELAV like RNA binding protein 1

Definition

ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)|ELAV-like protein 1|Hu antigen R|embryonic lethal, abnormal vision, drosophila, homolog-like 1|hu-antigen R

Position

19p13.2

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.246C>T; p.N82N; 19:7981113-7981113

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.414C>T; p.L138L; 19:7973741-7973741

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.672C>T; p.G224G; 19:7963792-7963792

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.31G>A; p.E11K; 19:7991785-7991785

 breastcarcinomaSubstitution - Missense

c.624A>C; p.G208G; 19:7967597-7967597

 breastcarcinomaSubstitution - coding silent

c.644C>T; p.A215V; 19:7967577-7967577

 breastcarcinomaSubstitution - Missense

c.733T>G; p.C245G; 19:7963731-7963731

 breastcarcinomaSubstitution - Missense

c.227G>C; p.R76T; 19:7981132-7981132

 breastcarcinomaSubstitution - Missense

c.64T>G; p.L22V; 19:7991752-7991752

 breastcarcinomaSubstitution - Missense

c.139G>C; p.E47Q; 19:7991677-7991677

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.139G>C; p.E47Q; 19:7991677-7991677

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaSubstitution - Missense

c.709C>T; p.P237S; 19:7963755-7963755

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.709C>T; p.P237S; 19:7963755-7963755

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.157C>T; p.R53W; 19:7991659-7991659

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.726C>T; p.S242S; 19:7963738-7963738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.225G>T; p.E75D; 19:7981134-7981134

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.635A>G; p.H212R; 19:7967586-7967586

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.431-1G>T; p.?; 19:7967791-7967791

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.276+1G>A; p.?; 19:7981082-7981082

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.228_229delAG; p.R76fs*16; 19:7981130-7981131

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.613C>T; p.R205*; 19:7967608-7967608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.230C>T; p.A77V; 19:7981129-7981129

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.213G>A; p.A71A; 19:7981146-7981146

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.804T>C; p.G268G; 19:7963660-7963660

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.136G>A; p.V46I; 19:7991680-7991680

 kidneyother; neoplasmSubstitution - Missense

c.291C>T; p.R97R; 19:7973864-7973864

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.137T>G; p.V46G; 19:7991679-7991679

 kidneyother; neoplasmSubstitution - Missense

c.302A>G; p.E101G; 19:7973853-7973853

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.896C>T; p.A299V; 19:7963568-7963568

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.826A>T; p.I276F; 19:7963638-7963638

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.70G>A; p.V24I; 19:7991746-7991746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.576C>T; p.N192N; 19:7967645-7967645

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.59C>T; p.T20M; 19:7991757-7991757

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.59C>T; p.T20M; 19:7991757-7991757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.699C>T; p.G233G; 19:7963765-7963765

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.957C>T; p.F319F; 19:7963507-7963507

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.875T>C; p.M292T; 19:7963589-7963589

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.246C>T; p.N82N; 19:7981113-7981113

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.662C>T; p.S221F; 19:7963802-7963802

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.R115W; 19:7973812-7973812

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.343C>T; p.R115W; 19:7973812-7973812

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.687C>T; p.S229S; 19:7963777-7963777

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.474G>A; p.S158S; 19:7967747-7967747

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.277-1G>T; p.?; 19:7973879-7973879

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.230C>T; p.A77V; 19:7981129-7981129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.427A>G; p.T143A; 19:7973728-7973728

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.427A>G; p.T143A; 19:7973728-7973728

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.815A>G; p.N272S; 19:7963649-7963649

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.874A>G; p.M292V; 19:7963590-7963590

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>A; p.V139M; 19:7973740-7973740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.621C>T; p.F207F; 19:7967600-7967600

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.450G>T; p.A150A; 19:7967771-7967771

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.528T>C; p.S176S; 19:7967693-7967693

 livercarcinomaSubstitution - coding silent

c.820A>G; p.K274E; 19:7963644-7963644

 livercarcinomaSubstitution - Missense

c.820A>G; p.K274E; 19:7963644-7963644

 livercarcinomaSubstitution - Missense

c.199A>C; p.N67H; 19:7981160-7981160

 livercarcinomaSubstitution - Missense

c.199A>C; p.N67H; 19:7981160-7981160

 livercarcinomaSubstitution - Missense

c.450G>T; p.A150A; 19:7967771-7967771

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.261G>T; p.Q87H; 19:7981098-7981098

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.110G>A; p.R37Q; 19:7991706-7991706

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.87G>C; p.Q29H; 19:7991729-7991729

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.293C>T; p.P98L; 19:7973862-7973862

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.290G>T; p.R97L; 19:7973865-7973865

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.765C>T; p.A255A; 19:7963699-7963699

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.276+1G>T; p.?; 19:7981082-7981082

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.364G>C; p.V122L; 19:7973791-7973791

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.110G>A; p.R37Q; 19:7991706-7991706

 pancreascarcinomaSubstitution - Missense

c.647A>G; p.Q216R; 19:7967574-7967574

 pancreascarcinomaSubstitution - Missense

c.612G>A; p.A204A; 19:7967609-7967609

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.16G>T; p.E6*; 19:7991800-7991800

 prostateadenomaSubstitution - Nonsense

c.81C>T; p.L27L; 19:7991735-7991735

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.629C>T; p.P210L; 19:7967592-7967592

 skinmalignant_melanomaSubstitution - Missense

c.11G>A; p.G4D; 19:7991805-7991805

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.341C>T; p.P114L; 19:7973814-7973814

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.52G>A; p.G18R; 19:7991764-7991764

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.830G>A; p.R277H; 19:7963634-7963634

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.94A>G; p.T32A; 19:7991722-7991722

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.803G>A; p.G268D; 19:7963661-7963661

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.83C>T; p.P28L; 19:7991733-7991733

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.917A>G; p.N306S; 19:7963547-7963547

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.457C>T; p.R153W; 19:7967764-7967764

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.212C>T; p.A71V; 19:7981147-7981147

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.768C>T; p.D256D; 19:7963696-7963696

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.315C>T; p.D105D; 19:7973840-7973840

 thyroidother; neoplasmSubstitution - coding silent

c.918C>T; p.N306N; 19:7963546-7963546

 thyroidcarcinomaSubstitution - coding silent

c.656+1G>A; p.?; 19:7967564-7967564

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaUnknown

c.798G>A; p.P266P; 19:7963666-7963666

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.204C>T; p.Y68Y; 19:7981155-7981155

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.650G>C; p.R217T; 19:7967571-7967571

 urinary_tract; bladdercarcinomaSubstitution - Missense