AFF1

Information AFF1

Description

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]

Full Name

AF4/FMR2 family member 1

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
6
Biotypes
4
Peaks
62,319
Non-redundant peaks
47,596

TF Classification

Super Class
NA
Class
NA
Familly
NA
Sub Familly
NA

Source TFClass

External IDs

NCBI Gene
4299
Official Gene Name
AFF1
JASPAR
Ensembl
ENSG00000172493
UniProt
P51825
Genevisible
P51825
RefSeq
NM_001166693
Aliases
AF-4; AF4; MLLT2; PBM1
All peaks AFF1
Download BED file
Non redundant peaks AFF1
Download BED file
SEQUENCES AFF1
Download FASTA file
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Datasets Table for AFF1

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
AFF1 MV4-11 GEO Homo sapiens GSE79899 287
AFF1 SEM CX4945 GEO Homo sapiens GSE90762 12,726
AFF1 SEM DMSO GEO Homo sapiens GSE90762 14,078
AFF1 K-562 ENCODE Homo sapiens ENCSR426URK 25,112
AFF1 K-562 ENCODE Homo sapiens ENCSR241LIH 8,892
AFF1 L826 GEO Homo sapiens GSE83671 1,224
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks