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Gene

ASXL3

ASXL transcriptional regulator 3

Summary

Cytogenetic location
18q12.1
Coordinates
Chromosome 18: 33,578,219–33,751,195 (GRCh38)
Exons
12 exons across 173 kb
Protein
2,248 amino acids
Previous symbols
KIAA1713
MANE Select transcript
ENST00000269197.12NM_030632.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    How ASXL3 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 18, with a bracket where ASXL3 sits. ASXL3 and 2 genes near it on chromosome 18, from 33,164,707 to 34,164,706.Chromosome 1818q12.1p11.32p11.31p11.23p11.22p11.21p11.1q11.1q11.2q12.1q12.2q12.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q2333.2 Mb33.4 Mb33.6 Mb33.8 Mb34 MbCCDC178: 32,937,402–33,441,101, reverse strandCCDC178ASXL3: 33,578,219–33,751,195, forward strandASXL3NOL4: 33,851,100–34,224,952, reverse strandNOL4Diagram of ASXL3: 12 exons on the forward strand of chromosome 18Exon 1: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 9: 2 known disease-causing sitesExon 11: 59 known disease-causing sitesExon 12: 61 known disease-causing sitesExon 1: 33,578,219–33,578,685, 467 basesExon 2: 33,607,594–33,607,676, 83 basesExon 3: 33,644,894–33,645,002, 109 basesExon 4: 33,646,245–33,646,353, 109 basesExon 5: 33,661,616–33,661,737, 122 basesExon 6: 33,670,673–33,670,790, 118 basesExon 7: 33,671,747–33,671,866, 120 basesExon 8: 33,683,405–33,683,568, 164 basesExon 9: 33,731,968–33,732,064, 97 basesExon 10: 33,734,310–33,734,415, 106 basesExon 11: 33,738,487–33,740,443, 1,957 basesExon 12: 33,742,888–33,751,195, 8,308 bases1246810125′3′

    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 11.8 kb of the gene's 173 kb; 6,747 of those bases code for the protein.

    How a genome test reads ASXL3

    134

    positions in ASXL3 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 173 kb of ASXL3, introns included, not only the 11.8 kb of exons.

    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

    APA

    Dante Labs. (n.d.). ASXL3 gene: ASXL transcriptional regulator 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/asxl3

    Vancouver

    Dante Labs. ASXL3 gene: ASXL transcriptional regulator 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/asxl3

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