AtlasGene
BCAP31
B cell receptor associated protein 31
- HGNC 16695↗(opens in a new tab)
- Ensembl gene ENSG00000185825↗(opens in a new tab)
- NCBI Gene 10134↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq28
- Coordinates
- Chromosome X: 153,700,492–153,724,387 (GRCh38)
- Exons
- 8 exons across 23.9 kb
- Protein
- 246 amino acids
- Also known as
- DXS1357E, BAP31, 6C6-Ag, CDM
- MANE Select transcript
- ENST00000345046.12NM_001256447.2
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Dystonia, Myotonia, Paroxysmal Dyskinesia
- Inherited Dystonia
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How BCAP31 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 1.3 kb of the gene's 23.9 kb; 741 of those bases code for the protein.
Sequencing BCAP31
27Moderate
How hard BCAP31 is to sequence with short reads, out of 100Each bar is the share of BCAP31's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.18%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.66%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.5%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.6.8%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
4
positions in BCAP31 where ClinVar classes a change as pathogenic or likely pathogenic
4 of them (100%) fall in regions short reads find hard.
- Low mappabilityRegions where 100 bp or 250 bp reads cannot be placed uniquely. (1 site)
- Segmental duplicationsCopies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy. (4 sites)
A whole genome covers all 23.9 kb of BCAP31, introns included, not only the 1.3 kb of exons.
Genes linked to the same conditions
- ACTBactin betaShares 1 condition
- ANO3anoctamin 3Shares 1 condition
- ARFGEF3ARFGEF family member 3Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- DCAF17DDB1 and CUL4 associated factor 17Shares 1 condition
- GCH1GTP cyclohydrolase 1Shares 1 condition
- GNALG protein subunit alpha LShares 1 condition
- HPCAhippocalcinShares 1 condition
- KCNJ10potassium inwardly rectifying channel subfamily J member 10Shares 1 condition
- KCTD17potassium channel tetramerization domain containing 17Shares 1 condition
- KMT2Blysine methyltransferase 2BShares 1 condition
Traits linked to BCAP31
The Human Phenotype Ontology lists these as features of the rare conditions BCAP31 can cause. Each trait's page lists the other genes linked to it.
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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). BCAP31 gene: B cell receptor associated protein 31. Retrieved 17 October 2026, from https://dantelabs.com/genes/bcap31
Dante Labs. BCAP31 gene: B cell receptor associated protein 31 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/bcap31
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