 Mutated Genes and Abnormal Protein Expression
|
| Gene | Location | Topics
|
| TAL1 (
SCL
, TCL5
)
| 1p32
|
|
| EPS15 (
MLLT5
, AF-1P
)
| 1p32
|
|
| MPL (
MPLV
, TPOR
)
| 1p34
|
|
| TCTA | 3p21
|
|
| EVI1 | 3q24-q28
|
-EVI1 and Leukaemia
|
| BCL6 (
LAZ3
, ZNF51
)
| 3q27
|
|
| TERT (
hEST2
, TP2
, TCS1
)
| 5p15.33
|
-TERT Downregulation in Leukaemia
|
| PDGFRB (
JTK12
, PDGFR
)
| 5q31-q32
|
-t(5;12)(q33;p13) in Chronic Myelomonocytic Leukemia
|
| TPMT | 6p22.3
|
-TPMT Expression in Leukaemia
|
| FKHRL1 (
AF6q21
)
| 6q21-6q21
|
|
| MLLT4 (
AF-6
)
| 6q27
|
|
| MLLT3 (
AF9
)
| 9p22
|
|
| JAK2 | 9p24
|
|
| ABL1 (
ABL
, JTK7
)
| 9q34.1
|
-t(9;22) ABL1-BCR "Philadelphia" translocation in Leukaemia
|
| NOTCH1 (
TAN1
)
| 9q34.3
|
-NOTCH1 Truncation in T-Cell Malignancies
|
| AF10 (
ALL1
)
| 10p12
|
-t(10;11) translocation in Acute Leukaemia
-t(10;11) AF10-MLL translocation in Acute Leukaemia
-t(10;11) AF10-CALM translocation in Acute Leukaemia
|
| WT1 | 11p13
|
-WT1 and Leukaemia
|
| CD44 (
MDU3
, HA
, MDU2
)
| 11pter-p13
|
-CD44 and Leukaemia
|
| BCL1 | 11q13.3
|
|
| ATM (
ATA
, ATC
)
| 11q22.3
|
-ATM and T-cell prolymphocytic leukemia
|
| MLL (
ALL1
, HRX
)
| 11q23
|
-MLL and Leukaemia
-t(11;19)(q23;p13) in Leukaemia
|
| ZNF145 (
PLZF
)
| 11q23-11q23
|
|
| POU2AF1 (
OBF1
)
| 11q23.1
|
-t(3;11)(q27;q23.1) in B-Cell Leukaemia
|
| ETV6 (
TEL
)
| 12p13
|
-ETV6 - ABL Rearangements in Leukaemia
|
| MDM2 | 12q13-q14
|
-MDM2 and Leukaemia
|
| RB1 (
Rb
)
| 13q14.2
|
-RB1 and Acute Leukaemias
|
| GAS6 (
AXLLG
)
| 13q34
|
|
| TCL1A (
TCL1
, TCL1-PEN
)
| 14q32.1
|
|
| PML (
MYL
)
| 15q22
|
|
| TP53 (
p53
, P53
)
| 17p13.1
|
-TP53 and Leukaemia
-TP53 and B-cell prolymphocytic leukemia
|
| RARA | 17q12
|
-RARA and Acute Promyelocytic Leukaemia
-t(15;17)(q21;q21) RARA-PML translocation in APL
-t(11;17)(q32;q21) RARA-PLZF translocation in APL
-t(5;17)(q32;q11) RARA-NPM translocation in APL
|
| MLLT6 (
AF17
)
| 17q21
|
-t(11;17) ALL1-MLLT6 in Acute Leukaemias
|
| BCL2 | 18q21.3
|
|
| SH3GL1 (
EEN
, SH3P8
)
| 19p13
|
|
| AXL (
UFO
)
| 19q13.1
|
|
| CEACAM8 (
CGM6
, CD66B
, CD67
)
| 19q13.2
|
-CEACAM8 Expression in Acute Promyelocytic Leukemia (?)
|
| BAX | 19q13.3-q13.4
|
-BAX and Leukaemia
|
| CBFA2 (
AML1
, PEBP2A2
, RUNX1
)
| 21q22.3
|
|
| BCR (
BCR1
, D22S11
)
| 22q11
|
-t(9;22) ABL1-BCR "Philadelphia" translocation in Leukaemia
|
|
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