Gene
SF3B1
splicing factor 3b subunit 1
- HGNC 10768↗(opens in a new tab)
- Ensembl gene ENSG00000115524↗(opens in a new tab)
- NCBI Gene 23451↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1
- Coordinates
- Chromosome 2: 197,389,784–197,435,028 (GRCh38)
- Exons
- 25 exons across 45.2 kb
- Protein
- 1,304 amino acids
- Also known as
- SAP155, SF3b155, PRPF10, Prp10, Hsh155
- MANE Select transcript
- ENST00000335508.11NM_012433.4
- 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 SF3B1 yet. The test sequences your whole genome, so your data includes it all the same.
How SF3B1 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 6.5 kb of the gene's 45.2 kb; 3,915 of those bases code for the protein.
How a genome test reads SF3B1
2
positions in SF3B1 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 45.2 kb of SF3B1, introns included, not only the 6.5 kb of exons.
Traits linked to SF3B1
The Human Phenotype Ontology lists these as features of the rare conditions SF3B1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of blood and blood-forming tissues
- Anemia of inadequate production
- Refractory anemia with ringed sideroblasts
- Erythroid hyperplasia
- Megaloblastic erythroid hyperplasia
- Normochromic anemia
- Normocytic anemia
- Abnormal megakaryocyte morphology
- Abnormal number of granulocyte precursors
Show 14 more traits
- Dysplastic granulopoesis
- Hypochromic anemia
- Hyposegmentation of neutrophil nuclei
- Low platelet count
- Myelodysplasia
- Acute myeloid leukemia
- Bleeding tendency
- Bone marrow failure
- Decreased total granulocyte count
- Elevated white blood count
- Increased megakaryocyte count
- Increased number of platelets in blood
- Low blood cell count
- Low blood neutrophil count
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.). SF3B1 gene: splicing factor 3b subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sf3b1
Dante Labs. SF3B1 gene: splicing factor 3b subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sf3b1
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