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Gene

HELLS

helicase, lymphoid specific

Summary

Cytogenetic location
10q23.33
Coordinates
Chromosome 10: 94,545,788–94,602,099 (GRCh38)
Exons
22 exons across 56.3 kb
Protein
838 amino acids
Also known as
PASG, SMARCA6, LSH, Nbla10143, SALNR
MANE Select transcript
ENST00000348459.10NM_018063.5
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

  • Dyskeratosis Congenita

    • Telomere syndromes

      Disorders of short telomeres caused by variants in telomere-maintenance genes such as TERT, TERC, RTEL1 and PARN, which can cause bone marrow failure, lung fibrosis and liver disease even without classic skin signs.

      • ClinGen rates the link moderate
      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Monitoring of blood counts, lungs and liver is advised, and the diagnosis informs donor selection and treatment choices for stem cell transplantation.

How HELLS is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 10, with a bracket where HELLS sits. HELLS and 8 genes near it on chromosome 10, from 94,073,944 to 95,073,943.Chromosome 1010q23.33p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.394.2 Mb94.4 Mb94.6 Mb94.8 Mb95 MbPLCE1: 93,993,807–94,332,823, forward strandPLCE1NOC3L: 94,320,340–94,362,982, reverse strandNOC3LTBC1D12: 94,402,377–94,537,452, forward strandTBC1D12HELLS: 94,545,788–94,602,099, forward strandHELLSCYP2C18: 94,682,860–94,736,241, forward strandCYP2C18: 94,688,154–94,853,073, forward strandCYP2C19: 94,762,536–94,922,264, forward strandCYP2C19CYP2C9: 94,938,544–94,990,149, forward strandCYP2C9CYP2C8: 95,034,359–95,069,603, reverse strandCYP2C8Diagram of HELLS: 22 exons on the forward strand of chromosome 10Exon 1: 94,545,788–94,545,952, 165 basesExon 2: 94,546,377–94,546,498, 122 basesExon 3: 94,554,126–94,554,248, 123 basesExon 4: 94,558,139–94,558,195, 57 basesExon 5: 94,562,691–94,562,727, 37 basesExon 6: 94,562,812–94,562,876, 65 basesExon 7: 94,571,388–94,571,429, 42 basesExon 8: 94,573,960–94,574,187, 228 basesExon 9: 94,574,554–94,574,736, 183 basesExon 10: 94,576,662–94,576,805, 144 basesExon 11: 94,581,326–94,581,522, 197 basesExon 12: 94,582,963–94,583,059, 97 basesExon 13: 94,588,229–94,588,390, 162 basesExon 14: 94,590,413–94,590,552, 140 basesExon 15: 94,590,638–94,590,776, 139 basesExon 16: 94,592,229–94,592,312, 84 basesExon 17: 94,592,395–94,592,514, 120 basesExon 18: 94,593,499–94,593,615, 117 basesExon 19: 94,594,695–94,594,854, 160 basesExon 20: 94,596,860–94,596,956, 97 basesExon 21: 94,597,035–94,597,111, 77 basesExon 22: 94,601,528–94,602,099, 572 bases15101520225′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 3.1 kb of the gene's 56.3 kb; 2,517 of those bases code for the protein.

How a genome test reads HELLS

2

positions in HELLS 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 56.3 kb of HELLS, introns included, not only the 3.1 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.). HELLS gene: helicase, lymphoid specific. Retrieved 16 October 2026, from https://dantelabs.com/genes/hells

Vancouver

Dante Labs. HELLS gene: helicase, lymphoid specific [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hells

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