AFF4 (ALL1 fused gene from chromosome 5q31)
2003-06-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
5q31.1
IMAGE
LEGEND
AF5q31 (5q31) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
AF5Q31,CHOPS,MCEF
FUSION GENES
DNA/RNA
Description
at least 16 exons
Transcription
in a telomere to centromere direction; 4235 bp mRNA; open reading frame: 3491 bp
Proteins
Description
1163 amino acids; 127 kDa
Expression
mostly in fetal tissues (heart, lung, brain, liver); at a low level in adult tissues; therefore, AF5q31 may play a critical role in the fetal development
Homology
with AF4-related proteins: AF4, the gene involved int(4;11)(q21;q23), LAF4, FMR2
Implicated in
Note
poorly defined: only 2 cases to date, infants with CD19+ ALL; complete remission, relapse and death
Hybrid gene
AF5Q31 and MLL are transcribed in opposite directions, and inverted insertion is required
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12759932 | 2003 | Insertion of MLL sequences into chromosome band 5q31 results in an MLL-AF5Q31 fusion and is a rare but recurrent abnormality associated with infant leukemia. | Deveney R et al |
| 10588740 | 1999 | AF5q31, a newly identified AF4-related gene, is fused to MLL in infant acute lymphoblastic leukemia with ins(5;11)(q31;q13q23). | Taki T et al |
Other Information
Locus ID:
NCBI: 27125
MIM: 604417
HGNC: 17869
Ensembl: ENSG00000072364
Variants:
dbSNP: 27125
ClinVar: 27125
TCGA: ENSG00000072364
COSMIC: AFF4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000072364 | ENST00000265343 | Q9UHB7 |
| ENSG00000072364 | ENST00000378595 | Q9UHB7 |
| ENSG00000072364 | ENST00000421773 | C9JCE0 |
| ENSG00000072364 | ENST00000425658 | H7C319 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37731335 | 2024 | AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis. | 1 |
| 37815186 | 2024 | The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression. | 0 |
| 37731335 | 2024 | AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis. | 1 |
| 37815186 | 2024 | The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression. | 0 |
| 37609817 | 2023 | AFF4 globally affects the release of paused RNA polymerase II in HEL cells. | 0 |
| 37609817 | 2023 | AFF4 globally affects the release of paused RNA polymerase II in HEL cells. | 0 |
| 33417923 | 2021 | AFF4 facilitates melanoma cell progression by regulating c-Jun activity. | 3 |
| 33417923 | 2021 | AFF4 facilitates melanoma cell progression by regulating c-Jun activity. | 3 |
| 32139123 | 2020 | AFF4 enhances odontogenic differentiation of human dental pulp cells. | 4 |
| 32268092 | 2020 | Super Elongation Complex as a Targetable Dependency in Diffuse Midline Glioma. | 20 |
| 32606293 | 2020 | AFF4 regulates osteogenic differentiation of human dental follicle cells. | 6 |
| 32139123 | 2020 | AFF4 enhances odontogenic differentiation of human dental pulp cells. | 4 |
| 32268092 | 2020 | Super Elongation Complex as a Targetable Dependency in Diffuse Midline Glioma. | 20 |
| 32606293 | 2020 | AFF4 regulates osteogenic differentiation of human dental follicle cells. | 6 |
| 30659266 | 2019 | The m(6)A methyltransferase METTL3 promotes bladder cancer progression via AFF4/NF-κB/MYC signaling network. | 208 |
Citation
Jean-Loup Huret
AFF4 (ALL1 fused gene from chromosome 5q31)
Atlas Genet Cytogenet Oncol Haematol. 2003-06-01
Online version: http://atlasgeneticsoncology.org/gene/230/aff4-(all1-fused-gene-from-chromosome-5q31)
Historical Card
2000-04-01 AFF4 (ALL1 fused gene from chromosome 5q31) by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
