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Gene

THUMPD1

THUMP domain 1 NAT10 acetyltransferase adaptor

Summary

Cytogenetic location
16p12.3
Coordinates
Chromosome 16: 20,733,664–20,741,818 (GRCh38)
Exons
4 exons across 8.2 kb
Protein
353 amino acids
Also known as
FLJ20274, Tan1
MANE Select transcript
ENST00000396083.7NM_017736.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

No Genome Test report reads THUMPD1 yet. The test sequences your whole genome, so your data includes it all the same.

How THUMPD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 16, with a bracket where THUMPD1 sits. THUMPD1 and 16 genes near it on chromosome 16, from 20,237,741 to 21,237,740.Chromosome 1616p12.3p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.320.4 Mb20.6 Mb20.8 Mb21 Mb21.2 MbGP2: 20,309,574–20,328,412, reverse strandGP2UMOD: 20,331,489–20,356,402, reverse strandUMODPDILT: 20,359,175–20,404,737, reverse strandPDILTACSM5: 20,409,308–20,441,337, forward strandACSM5ACSM2A: 20,444,012–20,487,669, forward strandACSM2AACSM2B: 20,533,999–20,576,442, reverse strandACSM2BACSM3: 20,610,243–20,797,843, forward strandACSM3ACSM1: 20,623,233–20,698,890, reverse strandACSM1THUMPD1: 20,733,664–20,741,818, reverse strandTHUMPD1ERI2: 20,780,193–20,900,349, reverse strandERI2REXO5: 20,806,157–20,850,126, forward strandREXO5DCUN1D3: 20,854,897–20,900,400, reverse strandDCUN1D3LYRM1: 20,899,821–20,925,011, forward strandLYRM1DNAH3: 20,932,482–21,159,441, reverse strandDNAH3LDAF1: 21,158,305–21,181,330, forward strandLDAF1ZP2: 21,197,450–21,214,510, reverse strandZP2ANKS4B: 21,233,673–21,253,850, forward strandANKS4BDiagram of THUMPD1: 4 exons on the reverse strand of chromosome 16Exon 4: 2 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 4: 20,733,664–20,737,286, 3,623 basesExon 3: 20,737,708–20,737,956, 249 basesExon 2: 20,738,897–20,739,071, 175 basesExon 1: 20,741,509–20,741,818, 310 bases43215′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 4.4 kb of the gene's 8.2 kb; 1,062 of those bases code for the protein.

How a genome test reads THUMPD1

9

positions in THUMPD1 where ClinVar classes a change as pathogenic or likely pathogenic

2 of them (22%) fall in regions short reads find hard.

  • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 8.2 kb of THUMPD1, introns included, not only the 4.4 kb of exons.

Traits linked to THUMPD1

The Human Phenotype Ontology lists these as features of the rare conditions THUMPD1 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.
  • 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.). THUMPD1 gene: THUMP domain 1 NAT10 acetyltransferase adaptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/thumpd1

Vancouver

Dante Labs. THUMPD1 gene: THUMP domain 1 NAT10 acetyltransferase adaptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/thumpd1

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