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Tbio
AFF1
AF4/FMR2 family member 1

Protein Summary
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000307808
  • ENSP00000305689
  • ENSG00000172493
  • ENST00000395146
  • ENSP00000378578

Symbol
  • AF4
  • FEL
  • MLLT2
  • PBM1
  • AF4
  • PBM1
  • MLLT2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
transcription factor binding site profile
0.96
transcription factor perturbation
0.8
microRNA
0.76
virus perturbation
0.72
drug perturbation
0.71


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1066.72   (req: < 5)
Gene RIFs: 37   (req: <= 3)
Antibodies: 243   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1066.72   (req: >= 5)
Gene RIFs: 37   (req: > 3)
Antibodies: 243   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 2
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (27)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
triglyceride measurement
15
10
21
2.3
98.3
heel bone mineral density
3
4
5
96.9
hemoglobin measurement
5
4
5
94.1
hematocrit
5
4
5
93.9
high density lipoprotein cholesterol measurement
5
6
9
93.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
triglyceride measurement
21
2.3
98.3
heel bone mineral density
5
96.9
hemoglobin measurement
5
94.1
hematocrit
5
93.9
high density lipoprotein cholesterol measurement
9
93.9
Protein Data Bank (1)
1 – 1 of 1
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Protein-Protein Interactions (76)
1 – 10 of 76
ELL3
Tbio
Family: Enzyme
Novelty: 0.18245631
p_int: 0.99999933
p_ni: 9e-9
p_wrong: 6.6e-7
Score: 0.92
Data Source: BioPlex,STRINGDB
PIP4K2A
Tbio
Family: Kinase
Novelty: 0.01130885
p_int: 0.999999012
p_ni: 9.88e-7
Score: 0.309
Data Source: BioPlex,STRINGDB
EAF1
Tbio
Novelty: 0.81120425
p_int: 0.999998756
p_ni: 0.000001244
Score: 0.913
Data Source: BioPlex,STRINGDB
CDK9
Tchem
Family: Kinase
Novelty: 0.00210218
p_int: 0.999997628
p_ni: 0.000001246
p_wrong: 0.000001126
Score: 0.875
Data Source: BioPlex,STRINGDB
CAMKV
Tbio
Family: Kinase
Novelty: 0.17794181
p_int: 0.999996742
p_ni: 0.000003258
Score: 0.22
Data Source: BioPlex,STRINGDB
EPB41L3
Tbio
Novelty: 0.00915217
p_int: 0.999926662
p_ni: 0.000071592
p_wrong: 0.000001747
Data Source: BioPlex
EPB41L1
Tbio
Novelty: 0.02937451
p_int: 0.99982011
p_ni: 0.000131585
p_wrong: 0.000048305
Data Source: BioPlex
MLLT1
Tbio
Novelty: 0.00328241
Score: 0.947
Data Source: STRINGDB
MLLT3
Tbio
Novelty: 0.00361056
Score: 0.915
Data Source: STRINGDB
ELL2
Tbio
Family: Enzyme
Novelty: 0.040736
Score: 0.88
Data Source: STRINGDB
Publication Statistics
PubMed Score  1066.72

PubMed score by year
PubTator Score  325.14

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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