Gene
RAP1B
RAP1B, member of RAS oncogene family
- HGNC 9857↗(opens in a new tab)
- Ensembl gene ENSG00000127314↗(opens in a new tab)
- NCBI Gene 5908↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q15
- Coordinates
- Chromosome 12: 68,610,899–68,671,901 (GRCh38)
- Exons
- 8 exons across 61 kb
- Protein
- 184 amino acids
- Also known as
- K-REV, RAL1B, DKFZp586H0723
- MANE Select transcript
- ENST00000250559.14NM_001010942.3
- 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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Inherited Thrombocytopenias
- Inherited Thrombocytopenia
A group of conditions causing a lifelong low platelet count, linked to genes such as MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 and MECOM, and inherited in dominant, recessive or X-linked patterns.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
What knowing changes
A genetic diagnosis avoids misdiagnosis as immune thrombocytopenia, with unnecessary steroids or spleen removal, and guides monitoring for related kidney, hearing or blood problems.
How RAP1B 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 13.4 kb of the gene's 61 kb; 555 of those bases code for the protein.
How a genome test reads RAP1B
1
position in RAP1B 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 61 kb of RAP1B, introns included, not only the 13.4 kb of exons.
Genes linked to the same conditions
- ACTBactin betaShares 1 condition
- ACTN1actinin alpha 1Shares 1 condition
- ADAMTS13ADAM metallopeptidase with thrombospondin type 1 motif 13Shares 1 condition
- ANKRD26ankyrin repeat domain 26Shares 1 condition
- ARPC1Bactin related protein 2/3 complex subunit 1BShares 1 condition
- CDC42cell division cycle 42Shares 1 condition
- CYCScytochrome c, somaticShares 1 condition
- DIAPH1diaphanous related formin 1Shares 1 condition
- ETV6ETS variant transcription factor 6Shares 1 condition
- FLI1Fli-1 proto-oncogene, ETS transcription factorShares 1 condition
- FYB1FYN binding protein 1Shares 1 condition
- GALEUDP-galactose-4-epimeraseShares 1 condition
Traits linked to RAP1B
The Human Phenotype Ontology lists these as features of the rare conditions RAP1B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Cavum septum pellucidum
- Cerebellar vermis hypoplasia
- Global developmental delay
- Gray matter heterotopia
- Hippocampal malrotation
- Intellectual disability, mild
- Thin corpus callosum
- Ventriculomegaly
Show 2 more traits
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.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- 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.). RAP1B gene: RAP1B, member of RAS oncogene family. Retrieved 17 October 2026, from https://dantelabs.com/genes/rap1b
Dante Labs. RAP1B gene: RAP1B, member of RAS oncogene family [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rap1b
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