Table 1. Top 40 genes with recurrent ASE... | American Society of Hematology

Table 1.

Top 40 genes with recurrent ASE in an AML cohort of 209 patients

Gene	No. of patients*	Evaluated cases†	Samples, %‡	COSMIC§	Myeloid differentiation§
GATA2	66	178	37	Yes	Yes
THBS1	36	124	29	No	Yes
MYH11	20	199	10	Yes	No
CA2	13	126	10	No	Yes
MECOM	13	186	7	Yes	No
SH3PXD2A	13	195	7	No	Yes
CDKN2A	11	102	11	Yes	No
JAG1	11	201	5	No	Yes
L3MBTL3	11	156	7	No	Yes
TRIM58	11	183	6	No	Yes
CIB1	10	160	6	No	Yes
FLT3	10	175	6	Yes	No
HIP1	9	198	5	Yes	No
PDE4DIP	9	198	5	Yes	No
HSP90AB1	8	147	5	Yes	No
L3MBTL1	8	155	5	No	Yes
MGMT	8	150	5	Yes	No
RUNX1	7	188	4	Yes	Yes
USP6	7	149	5	Yes	No
CD101	6	174	3	No	Yes
FAT1	6	202	3	Yes	No
IRF8	6	165	4	No	Yes
MEIS1	6	156	4	No	Yes
NPM1	6	134	4	Yes	No
ABL1	5	153	3	Yes	No
CIITA	5	196	3	Yes	No
DNMT3A	5	188	3	Yes	No
FAM20C	5	184	3	No	Yes
LTF	5	188	3	No	Yes
MYB	5	161	3	Yes	No
PML	5	181	3	Yes	Yes
PRDM2	5	151	3	Yes	No
RMI2	5	148	3	Yes	No
RPN1	5	159	3	Yes	No
ZFHX3	5	201	2	Yes	No
AKT1	4	178	2	Yes	No
BAX	4	110	4	Yes	No
BRCA1	4	170	2	Yes	No
KMT2C	4	162	2	Yes	Yes
KNSTRN	4	158	3	Yes	No

Gene	No. of patients*	Evaluated cases†	Samples, %‡	COSMIC§	Myeloid differentiation§
GATA2	66	178	37	Yes	Yes
THBS1	36	124	29	No	Yes
MYH11	20	199	10	Yes	No
CA2	13	126	10	No	Yes
MECOM	13	186	7	Yes	No
SH3PXD2A	13	195	7	No	Yes
CDKN2A	11	102	11	Yes	No
JAG1	11	201	5	No	Yes
L3MBTL3	11	156	7	No	Yes
TRIM58	11	183	6	No	Yes
CIB1	10	160	6	No	Yes
FLT3	10	175	6	Yes	No
HIP1	9	198	5	Yes	No
PDE4DIP	9	198	5	Yes	No
HSP90AB1	8	147	5	Yes	No
L3MBTL1	8	155	5	No	Yes
MGMT	8	150	5	Yes	No
RUNX1	7	188	4	Yes	Yes
USP6	7	149	5	Yes	No
CD101	6	174	3	No	Yes
FAT1	6	202	3	Yes	No
IRF8	6	165	4	No	Yes
MEIS1	6	156	4	No	Yes
NPM1	6	134	4	Yes	No
ABL1	5	153	3	Yes	No
CIITA	5	196	3	Yes	No
DNMT3A	5	188	3	Yes	No
FAM20C	5	184	3	No	Yes
LTF	5	188	3	No	Yes
MYB	5	161	3	Yes	No
PML	5	181	3	Yes	Yes
PRDM2	5	151	3	Yes	No
RMI2	5	148	3	Yes	No
RPN1	5	159	3	Yes	No
ZFHX3	5	201	2	Yes	No
AKT1	4	178	2	Yes	No
BAX	4	110	4	Yes	No
BRCA1	4	170	2	Yes	No
KMT2C	4	162	2	Yes	Yes
KNSTRN	4	158	3	Yes	No

No. of patients presenting with ASE for that gene.

†

No. of patients with SNVs that could be evaluated in that gene.

‡

Determined by dividing no. of patients by no. of evaluated cases.

Indicates whether the gene is found in COSMIC database or is involved in myeloid differentiation (Gene Ontology database: 0030099). Note that reportedly imprinted genes (according to GeneImprint) were filtered out.

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