Gene
AFF4
ALF transcription elongation factor 4
- HGNC 17869↗(opens in a new tab)
- Ensembl gene ENSG00000072364↗(opens in a new tab)
- NCBI Gene 27125↗(opens in a new tab)
Summary
- Cytogenetic location
- 5q31.1
- Coordinates
- Chromosome 5: 132,875,395–132,963,634 (GRCh38)
- Exons
- 21 exons across 88.2 kb
- Protein
- 1,163 amino acids
- Also known as
- AF5Q31, MCEF
- MANE Select transcript
- ENST00000265343.10NM_014423.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads AFF4 yet. The test sequences your whole genome, so your data includes it all the same.
How AFF4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 9.5 kb of the gene's 88.2 kb; 3,492 of those bases code for the protein.
How a genome test reads AFF4
6
positions in AFF4 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 88.2 kb of AFF4, introns included, not only the 9.5 kb of exons.
Traits linked to AFF4
The Human Phenotype Ontology lists these as features of the rare conditions AFF4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Coarse facial features
- Monobrow
- Thick eyebrow
- Highly arched eyebrow
- Long eyelashes
- Nasal tip, upturned
- Abnormally small head
- Downturned corners of mouth
Show 15 more traits
- High, narrow palate
- Long philtrum
- Round face
- Short nose
- Abnormally large tongue
- Asymmetry of the posterior head
- Downward slanting of the opening between the eyelids
- Extra bones within cranial sutures
- Full cheeks
- High palate
- Little lower jaw
- Narrow forehead
- Retraction of the tongue
- Thin red part of the upper lip
- Vertical forehead creases
Abnormality of the cardiovascular system
- Patent ductus arteriosus
- Abnormality of the heart
- Anomalous pulmonary venous return
- Hole in heart wall separating two lower heart chambers
- Increased spleen size
- Patent foramen ovale
- Bulge in wall of root of large artery that carries blood away from heart
- Cardiac failure
Show 1 more trait
Abnormality of the eye
- Bulging eye
- Clouding of the lens of the eye
- Optic atrophy
- Wide-set eyes
- Close sighted
- Cross-eyed
- Drooping upper eyelid
- Exophoria
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). AFF4 gene: ALF transcription elongation factor 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/aff4
Dante Labs. AFF4 gene: ALF transcription elongation factor 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/aff4
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