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Gene

TBL1XR1

TBL1X/Y related 1

Summary

Cytogenetic location
3q26.32
Coordinates
Chromosome 3: 177,019,344–177,197,482 (GRCh38)
Exons
16 exons across 178.1 kb
Protein
514 amino acids
Also known as
IRA1, FLJ12894, TBLR1, C21, DC42
MANE Select transcript
ENST00000457928.7NM_024665.7
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

    How TBL1XR1 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 3, with a bracket where TBL1XR1 sits. TBL1XR1 and 0 genes near it on chromosome 3, from 176,608,413 to 177,608,412.Chromosome 33q26.32p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29176.8 Mb177 Mb177.2 Mb177.4 Mb177.6 MbTBL1XR1: 177,019,344–177,197,482, reverse strandTBL1XR1Diagram of TBL1XR1: 16 exons on the reverse strand of chromosome 3Exon 15: 3 known disease-causing sitesExon 14: 10 known disease-causing sitesExon 13: 3 known disease-causing sitesExon 12: 4 known disease-causing sitesExon 11: 7 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 16: 177,019,344–177,025,524, 6,181 basesExon 15: 177,026,373–177,026,474, 102 basesExon 14: 177,032,971–177,033,136, 166 basesExon 13: 177,034,198–177,034,325, 128 basesExon 12: 177,038,098–177,038,172, 75 basesExon 11: 177,038,313–177,038,434, 122 basesExon 10: 177,046,129–177,046,189, 61 basesExon 9: 177,047,300–177,047,397, 98 basesExon 8: 177,047,486–177,047,549, 64 basesExon 7: 177,049,997–177,050,138, 142 basesExon 6: 177,050,478–177,050,610, 133 basesExon 5: 177,051,504–177,051,726, 223 basesExon 4: 177,053,773–177,053,918, 146 basesExon 3: 177,064,920–177,065,022, 103 basesExon 2: 177,098,466–177,098,541, 76 basesExon 1: 177,197,121–177,197,482, 362 bases161015′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 8.2 kb of the gene's 178.1 kb; 1,545 of those bases code for the protein.

    How a genome test reads TBL1XR1

    67

    positions in TBL1XR1 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 178.1 kb of TBL1XR1, introns included, not only the 8.2 kb of exons.

    Genes linked to the same conditions

    Traits linked to TBL1XR1

    The Human Phenotype Ontology lists these as features of the rare conditions TBL1XR1 can cause. Each trait's page lists the other genes linked to it.

    External links

    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.). TBL1XR1 gene: TBL1X/Y related 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tbl1xr1

    Vancouver

    Dante Labs. TBL1XR1 gene: TBL1X/Y related 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tbl1xr1

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