AFF4 (ALL1 fused gene from chromosome 5q31)

2003-06-01   Jean-Loup Huret  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
AFF4
LOCATION
5q31.1
IMAGE
Atlas Image
LEGEND
AF5q31 (5q31) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
27125
ALIAS
AF5Q31,CHOPS,MCEF
FUSION GENES
Show Gene Fusions

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

Entity name
ins(5;11)(q31;q13q23)acute lymphoblastic leukemia (ALL) --> KMT2A-AFF4
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 IDLast YearTitleAuthors
127599322003Insertion 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
105887401999AF5q31, 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 IDTranscript IDUniprot
ENSG00000072364ENST00000265343Q9UHB7
ENSG00000072364ENST00000378595Q9UHB7
ENSG00000072364ENST00000421773C9JCE0
ENSG00000072364ENST00000425658H7C319

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
377313352024AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis.1
378151862024The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression.0
377313352024AFF4 regulates osteogenic potential of human periodontal ligament stem cells via mTOR-ULK1-autophagy axis.1
378151862024The Biological Significance of AFF4: Promoting Transcription Elongation, Osteogenic Differentiation and Tumor Progression.0
376098172023AFF4 globally affects the release of paused RNA polymerase II in HEL cells.0
376098172023AFF4 globally affects the release of paused RNA polymerase II in HEL cells.0
334179232021AFF4 facilitates melanoma cell progression by regulating c-Jun activity.3
334179232021AFF4 facilitates melanoma cell progression by regulating c-Jun activity.3
321391232020AFF4 enhances odontogenic differentiation of human dental pulp cells.4
322680922020Super Elongation Complex as a Targetable Dependency in Diffuse Midline Glioma.20
326062932020AFF4 regulates osteogenic differentiation of human dental follicle cells.6
321391232020AFF4 enhances odontogenic differentiation of human dental pulp cells.4
322680922020Super Elongation Complex as a Targetable Dependency in Diffuse Midline Glioma.20
326062932020AFF4 regulates osteogenic differentiation of human dental follicle cells.6
306592662019The 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 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France