Gene Name	AFF1
Gene ID	4299
Gene Full Name	ALF transcription elongation factor 1
Gene Alias	AF4|FEL|MLLT2|PBM1
Transcripts	ENSG00000172493
Virus	EBV
Gene Type	protein-coding
HPA Location Info	Nucleoplasm, Mitochondria;
Membrane Info	Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	P51825
HGNC ID	HGNC:7135
OMIM ID	159557
Summary	This gene encodes a member of the AF4/ lymphoid nuclear protein related to the Fragile X E syndrome (FRAXE) family of proteins, which have been implicated in human childhood lymphoblastic leukemia, fragile chromosome X intellectual disability, and ataxia. It is the prevalent mixed-lineage leukemia fusion gene associated with spontaneous acute lymphoblastic leukemia. Members of this family have three conserved domains: an N-terminal homology domain, an AF4/ lymphoid nuclear protein domain, and a C-terminal homology domain. The protein functions as a regulator of RNA polymerase II-mediated transcription through elongation and chromatin remodeling functions. Through RNA interference screens, this gene has been shown to promote the expression of CD133, a plasma membrane glycoprotein required for leukemia cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
3000416	chr4	9	12	0	21	View

Data ID	Experiment type	Sample number	Platform
GSE42867	Expression array	12	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
C   GSE246060	Chip-seq	26	Illumina NovaSeq 6000 (Homo sapiens)
GSE45919	Expression array	24	Illumina HumanHT-12 V4.0 expression beadchip
GSE198332	Methylation profiling (Array)	7	Infinium MethylationEPIC
GSE223328	Expression array	16	Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Probe Name Version]
GSE208281	RNA-seq	50	Illumina NextSeq 500 (Homo sapiens)
GSE100458	Expression array	14	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array [CDF: Brainarray HGU133Plus2_Hs_ENTREZG_v21]
C   GSE198334	Chip-seq	4	Illumina NextSeq 500 (Homo sapiens)
GSE165194	RNA-seq	3	Illumina NextSeq 500 (Homo sapiens)
C   GSE246059	ATAC-seq	8	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE177046	RNA-seq	6	Illumina HiSeq 2000 (Homo sapiens)
GSE135644	Expression array	10	Sentrix Human-6 v2 Expression BeadChip
C   GSE225248	Chip-seq	12	Illumina NextSeq 500 (Homo sapiens)
GSE102203	Expression array	10	[HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [probe set (exon) version]
GSE85599	Expression array	17	[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version]
GSE12452	Expression array	41	[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
GSE58240	Expression array	32	Illumina HumanHT-12 V4.0 expression beadchip
GSE181906	RNA-seq	24	Illumina NovaSeq 6000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE246060 - AFF1 peak across samples

Peak Plot

> Dataset: GSE198334 - AFF1 peak across samples

Peak Plot

> Dataset: GSE246059 - AFF1 peak across samples

Peak Plot

> Dataset: GSE225248 - AFF1 peak across samples

Peak Plot