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Gene

TLL1

tolloid like 1

Summary

Cytogenetic location
4q32.3
Coordinates
Chromosome 4: 165,873,237–166,104,457 (GRCh38)
Exons
21 exons across 231.2 kb
Protein
1,013 amino acids
MANE Select transcript
ENST00000061240.7NM_012464.5
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

  • Inherited Congenital Heart Defects

    • Atrial Septal Defect

      A hole between the upper chambers of the heart; inherited forms are caused by genes such as NKX2-5, GATA4, TBX20, MYH6 and ACTC1, and NKX2-5 forms also carry a risk of progressive heart block.

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

      Knowing about it supports heart imaging and, for NKX2-5, regular ECG checks.

How TLL1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where TLL1 sits. TLL1 and 1 gene near it on chromosome 4, from 165,488,847 to 166,488,846.Chromosome 44q32.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2165.6 Mb165.8 Mb166 Mb166.2 Mb166.4 MbCPE: 165,361,194–165,499,352, forward strandCPETLL1: 165,873,237–166,104,457, forward strandTLL1Diagram of TLL1: 21 exons on the forward strand of chromosome 4Exon 5: 1 known disease-causing siteExon 1: 165,873,237–165,874,073, 837 basesExon 2: 165,989,381–165,989,491, 111 basesExon 3: 165,992,804–165,992,884, 81 basesExon 4: 165,994,381–165,994,533, 153 basesExon 5: 165,995,061–165,995,178, 118 basesExon 6: 166,003,391–166,003,569, 179 basesExon 7: 166,007,943–166,008,048, 106 basesExon 8: 166,014,436–166,014,560, 125 basesExon 9: 166,025,316–166,025,431, 116 basesExon 10: 166,039,339–166,039,441, 103 basesExon 11: 166,042,027–166,042,143, 117 basesExon 12: 166,043,274–166,043,419, 146 basesExon 13: 166,055,076–166,055,271, 196 basesExon 14: 166,057,184–166,057,309, 126 basesExon 15: 166,060,028–166,060,188, 161 basesExon 16: 166,065,683–166,065,863, 181 basesExon 17: 166,074,878–166,075,003, 126 basesExon 18: 166,077,903–166,078,030, 128 basesExon 19: 166,091,128–166,091,341, 214 basesExon 20: 166,099,277–166,099,527, 251 basesExon 21: 166,100,742–166,104,457, 3,716 bases1215′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 7.3 kb of the gene's 231.2 kb; 3,042 of those bases code for the protein.

How a genome test reads TLL1

2

positions in TLL1 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 231.2 kb of TLL1, introns included, not only the 7.3 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.). TLL1 gene: tolloid like 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/tll1

Vancouver

Dante Labs. TLL1 gene: tolloid like 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tll1

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