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Gene

TDP1

tyrosyl-DNA phosphodiesterase 1

Summary

Cytogenetic location
14q32.11
Coordinates
Chromosome 14: 89,955,927–90,044,764 (GRCh38)
Exons
17 exons across 88.8 kb
Protein
608 amino acids
Inheritance
Autosomal recessive
Also known as
FLJ11090, SCAN1
MANE Select transcript
ENST00000335725.9NM_018319.4
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

  • DNA Repair Disease

    • Autosomal recessive

      A disease that has its basis in the disruption of DNA repair.

      • 1 GenCC submitter rates it definitive or strong

Broader groupings

  • Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)

    • Autosomal Recessive Cerebellar AtaxiaAutosomal recessive

      One of 57 genes linked to it

      A group of recessively inherited ataxias caused by biallelic variants in genes such as RFC1, FXN, SACS, TTPA, SETX, APTX, PNKP, ANO10 and SYNE1.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Ataxia with vitamin E deficiency (TTPA) is treatable with vitamin E supplements; other forms are managed with physiotherapy and symptom care, and relatives can be offered carrier testing.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How TDP1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where TDP1 sits. TDP1 and 6 genes near it on chromosome 14, from 89,500,346 to 90,500,345.Chromosome 1414q32.11p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3389.6 Mb89.8 Mb90 Mb90.2 Mb90.4 MbFOXN3: 89,124,871–89,619,496, reverse strandFOXN3EFCAB11: 89,794,669–89,954,777, reverse strandEFCAB11TDP1: 89,955,927–90,044,764, forward strandTDP1KCNK13: 90,061,990–90,185,855, forward strandKCNK13PSMC1: 90,256,506–90,275,429, forward strandPSMC1NRDE2: 90,267,860–90,332,125, reverse strandNRDE2CALM1: 90,396,502–90,408,268, forward strandCALM1Diagram of TDP1: 17 exons on the forward strand of chromosome 14Exon 5: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 1: 89,955,927–89,955,970, 44 basesExon 2: 89,956,578–89,956,800, 223 basesExon 3: 89,963,108–89,963,673, 566 basesExon 4: 89,966,147–89,966,190, 44 basesExon 5: 89,967,367–89,967,422, 56 basesExon 6: 89,971,175–89,971,271, 97 basesExon 7: 89,975,781–89,975,815, 35 basesExon 8: 89,980,540–89,980,632, 93 basesExon 9: 89,984,516–89,984,683, 168 basesExon 10: 89,985,132–89,985,210, 79 basesExon 11: 89,988,905–89,989,090, 186 basesExon 12: 89,989,717–89,989,765, 49 basesExon 13: 89,991,917–89,991,983, 67 basesExon 14: 89,993,376–89,993,483, 108 basesExon 15: 90,019,316–90,019,418, 103 basesExon 16: 90,033,106–90,033,214, 109 basesExon 17: 90,043,070–90,044,764, 1,695 bases151015175′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 3.7 kb of the gene's 88.8 kb; 1,827 of those bases code for the protein.

How a genome test reads TDP1

3

positions in TDP1 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 88.8 kb of TDP1, introns included, not only the 3.7 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.). TDP1 gene: tyrosyl-DNA phosphodiesterase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tdp1

Vancouver

Dante Labs. TDP1 gene: tyrosyl-DNA phosphodiesterase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tdp1

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