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Gene

THSD1

thrombospondin type 1 domain containing 1

Summary

Cytogenetic location
13q14.3
Coordinates
Chromosome 13: 52,377,167–52,406,172 (GRCh38)
Exons
5 exons across 29 kb
Protein
852 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
TMTSP
MANE Select transcript
ENST00000258613.5NM_018676.4
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

  • Intracranial Berry Aneurysm

    • Autosomal dominant

      An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.

      • 1 GenCC submitter rates it definitive or strong

  • Primary Lymphoedema & Lymphatic Malformations

    • Lymphatic Malformation 13Autosomal recessive

      A rare inherited form of primary lymphoedema.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
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 THSD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where THSD1 sits. THSD1 and 11 genes near it on chromosome 13, from 51,891,670 to 52,891,669.Chromosome 1313q14.3p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q3452 Mb52.2 Mb52.4 Mb52.6 Mb52.8 MbATP7B: 51,930,436–52,012,198, reverse strandATP7BALG11: 52,011,712–52,079,232, forward strandALG11UTP14C: 52,024,691–52,034,196, forward strandUTP14CNEK5: 52,033,611–52,129,094, reverse strandNEK5NEK3: 52,130,733–52,159,855, reverse strandNEK3THSD1: 52,377,167–52,406,172, reverse strandTHSD1VPS36: 52,411,117–52,450,688, reverse strandVPS36CKAP2: 52,455,429–52,476,640, forward strandCKAP2HNRNPA1L2: 52,642,431–52,643,773, forward strandHNRNPA1L2SUGT1: 52,652,447–52,700,909, forward strandSUGT1CNMD: 52,703,198–52,740,142, reverse strandCNMDPCDH8: 52,842,889–52,848,641, reverse strandPCDH8Diagram of THSD1: 5 exons on the reverse strand of chromosome 13Exon 5: 1 known disease-causing siteExon 3: 3 known disease-causing sitesExon 5: 52,377,167–52,378,789, 1,623 basesExon 4: 52,386,028–52,386,186, 159 basesExon 3: 52,397,232–52,398,194, 963 basesExon 2: 52,402,543–52,402,681, 139 basesExon 1: 52,406,031–52,406,172, 142 bases543215′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 kb of the gene's 29 kb; 2,559 of those bases code for the protein.

How a genome test reads THSD1

4

positions in THSD1 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 29 kb of THSD1, introns included, not only the 3 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.). THSD1 gene: thrombospondin type 1 domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/thsd1

Vancouver

Dante Labs. THSD1 gene: thrombospondin type 1 domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/thsd1

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