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Gene

TBL1X

transducin beta like 1 X-linked

Summary

Cytogenetic location
Xp22.31-p22.2
Coordinates
Chromosome X: 9,465,058–9,719,740 (GRCh38)
Exons
18 exons across 254.7 kb
Protein
577 amino acids
Also known as
EBI
Previous symbols
TBL1
MANE Select transcript
ENST00000645353.2NM_005647.4
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 reports relevant to this gene

  • Congenital Hypothyroidism

    • A thyroid hormone deficiency present from birth.

      • 2 GenCC submitters rate it definitive or strong

  • Thyroid Cancer

    • Hypothyroidism

      Abnormally low levels of thyroid hormone.

      • 2 GenCC submitters rate it definitive or strong
    • Thyroid Gland Disorder

      A disease involving the thyroid gland.

      • 2 GenCC submitters rate it definitive or strong

How TBL1X is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where TBL1X sits. TBL1X and 6 genes near it on chromosome X, from 9,092,399 to 10,092,398.Chromosome XXp22.31-p22.2p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q289.2 Mb9.4 Mb9.6 Mb9.8 Mb10 MbFAM9B: 9,024,232–9,295,682, reverse strandFAM9BTBL1X: 9,465,058–9,719,740, forward strandTBL1XGPR143: 9,724,039–9,786,297, reverse strandGPR143SHROOM2: 9,786,378–9,949,443, forward strandSHROOM2: 9,786,429–9,968,352, forward strandCLDN34: 9,961,424–9,968,352, forward strandCLDN34WWC3: 10,015,254–10,144,592, forward strandWWC3Diagram of TBL1X: 18 exons on the forward strand of chromosome XExon 11: 1 known disease-causing siteExon 17: 1 known disease-causing siteExon 1: 9,465,058–9,465,447, 390 basesExon 2: 9,501,780–9,501,849, 70 basesExon 3: 9,640,273–9,640,360, 88 basesExon 4: 9,653,545–9,653,689, 145 basesExon 5: 9,654,215–9,654,322, 108 basesExon 6: 9,684,043–9,684,188, 146 basesExon 7: 9,688,017–9,688,275, 259 basesExon 8: 9,691,579–9,691,711, 133 basesExon 9: 9,692,113–9,692,254, 142 basesExon 10: 9,693,149–9,693,212, 64 basesExon 11: 9,693,322–9,693,419, 98 basesExon 12: 9,697,369–9,697,429, 61 basesExon 13: 9,704,993–9,705,114, 122 basesExon 14: 9,709,248–9,709,322, 75 basesExon 15: 9,709,633–9,709,760, 128 basesExon 16: 9,711,611–9,711,776, 166 basesExon 17: 9,714,902–9,715,003, 102 basesExon 18: 9,716,220–9,719,740, 3,521 bases151015185′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 5.8 kb of the gene's 254.7 kb; 1,734 of those bases code for the protein.

How a genome test reads TBL1X

2

positions in TBL1X 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 254.7 kb of TBL1X, introns included, not only the 5.8 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.). TBL1X gene: transducin beta like 1 X-linked. Retrieved 16 October 2026, from https://dantelabs.com/genes/tbl1x

Vancouver

Dante Labs. TBL1X gene: transducin beta like 1 X-linked [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tbl1x

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