| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 215 |
Name | ABCD1 |
Synonymous | ABC42|ALD|ALDP|AMN;ATP-binding cassette, sub-family D (ALD), member 1;ABCD1;ATP-binding cassette, sub-family D (ALD), member 1 |
Definition | ATP-binding cassette sub-family D member 1|adrenoleukodystrophy protein |
Position | Xq28 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ABCD1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ABCD1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1816T>C; p.S606P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.641_642insC; p.L215fs*86; |
NS | malignant_melanoma |
c.775C>T; p.R259W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1201C>T; p.R401W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.143C>T; p.A48V; |
liver | carcinoma |
c.1445T>A; p.V482D; |
oesophagus | carcinoma; adenocarcinoma |
c.2213G>T; p.G738V; |
liver | carcinoma |
c.652C>A; p.P218T; |
large_intestine; colon | carcinoma |
c.1687G>A; p.V563M; |
lung | carcinoma; adenocarcinoma |
c.1295G>A; p.C432Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1355G>A; p.R452Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.1866G>A; p.R622R; |
liver | carcinoma |
c.1394G>A; p.G465D; |
prostate | adenoma |
c.1129C>A; p.L377M; |
autonomic_ganglia | neuroblastoma |
c.762G>A; p.T254T; |
autonomic_ganglia | neuroblastoma |
c.735C>T; p.A245A; |
lung | carcinoma; adenocarcinoma |
c.1935G>A; p.Q645Q; |
lung | carcinoma; adenocarcinoma |
c.1526A>G; p.N509S; |
lung | carcinoma; squamous_cell_carcinoma |
c.838C>A; p.R280S; |
lung | carcinoma; squamous_cell_carcinoma |
c.1367G>A; p.R456H; |
lung | carcinoma; squamous_cell_carcinoma |
c.1230G>T; p.T410T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.821G>A; p.R274Q; |
breast | carcinoma |
c.2031C>T; p.G677G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1948G>A; p.A650T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1780G>T; p.G594C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2163C>T; p.G721G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1534G>A; p.G512S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1411G>A; p.E471K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1024T>C; p.S342P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1260C>T; p.H420H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.763G>A; p.A255T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.785C>T; p.S262L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1746C>T; p.V582V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.180C>T; p.V60V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1176G>A; p.L392L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1449G>A; p.T483T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1394-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.571C>T; p.R191C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.350G>T; p.R117M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.565C>T; p.R189W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.213C>T; p.F71F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1504C>T; p.H502Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.738C>T; p.I246I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.379C>T; p.P127S; |
urinary_tract; bladder | carcinoma |
c.380C>T; p.P127L; |
urinary_tract; bladder | carcinoma |
c.1020C>T; p.S340S; |
urinary_tract; bladder | carcinoma |
c.515G>A; p.R172H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.820C>T; p.R274W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1499G>A; p.G500D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.421G>A; p.A141T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1141C>T; p.R381C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.577C>A; p.P193T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.463G>A; p.E155K; |
urinary_tract; bladder | carcinoma |
c.1330C>T; p.Q444*; |
breast | carcinoma |
c.1497A>G; p.E499E; |
breast | carcinoma |
c.748G>A; p.V250M; |
breast | carcinoma |
c.1026G>A; p.S342S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.790A>G; p.K264E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.926C>A; p.S309Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |