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Gene

ADSS1

adenylosuccinate synthase 1

Summary

Cytogenetic location
14q32.33
Coordinates
Chromosome 14: 104,724,229–104,747,310 (GRCh38)
Exons
13 exons across 23.1 kb
Protein
457 amino acids
Also known as
FLJ38602
Previous symbols
ADSSL1
MANE Select transcript
ENST00000330877.7NM_152328.5
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 report relevant to this gene

  • Distal Myopathies

    • Distal myopathy

      A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

      • 2 GenCC submitters rate it definitive or strong

How ADSS1 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 ADSS1 sits. ADSS1 and 15 genes near it on chromosome 14, from 104,235,770 to 105,235,769.Chromosome 1414q32.33p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.33104.4 Mb104.6 Mb104.8 Mb105 Mb105.2 MbTMEM179: 104,474,678–104,605,647, reverse strandTMEM179C14orf180: 104,579,550–104,590,515, forward strandC14orf180INF2: 104,681,146–104,722,535, forward strandINF2ADSS1: 104,724,229–104,747,310, forward strandADSS1SIVA1: 104,753,122–104,768,494, forward strandSIVA1AKT1: 104,769,348–104,799,934, reverse strandAKT1ZBTB42: 104,799,415–104,804,712, forward strandZBTB42CEP170B: 104,864,498–104,896,770, forward strandCEP170BPLD4: 104,924,713–104,937,784, forward strandPLD4AHNAK2: 104,937,244–104,978,374, reverse strandAHNAK2CLBA1: 104,985,758–105,010,482, forward strandCLBA1CDCA4: 105,008,532–105,033,828, reverse strandCDCA4GPR132: 105,048,658–105,065,940, reverse strandGPR132JAG2: 105,140,982–105,168,919, reverse strandJAG2NUDT14: 105,172,937–105,181,323, reverse strandNUDT14BRF1: 105,209,277–105,315,589, reverse strandBRF1Diagram of ADSS1: 13 exons on the forward strand of chromosome 14Exon 8: 4 known disease-causing sitesExon 9: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 1: 104,724,229–104,724,462, 234 basesExon 2: 104,735,020–104,735,122, 103 basesExon 3: 104,738,376–104,738,438, 63 basesExon 4: 104,739,328–104,739,378, 51 basesExon 5: 104,739,750–104,739,816, 67 basesExon 6: 104,740,601–104,740,708, 108 basesExon 7: 104,740,839–104,740,920, 82 basesExon 8: 104,741,117–104,741,243, 127 basesExon 9: 104,741,848–104,742,002, 155 basesExon 10: 104,743,067–104,743,191, 125 basesExon 11: 104,744,812–104,744,909, 98 basesExon 12: 104,746,236–104,746,385, 150 basesExon 13: 104,746,951–104,747,310, 360 bases124681012135′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 1.7 kb of the gene's 23.1 kb; 1,374 of those bases code for the protein.

How a genome test reads ADSS1

10

positions in ADSS1 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 23.1 kb of ADSS1, introns included, not only the 1.7 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.). ADSS1 gene: adenylosuccinate synthase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/adss1

Vancouver

Dante Labs. ADSS1 gene: adenylosuccinate synthase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/adss1

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