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
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 |