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Gene

TOGARAM1

TOG array regulator of axonemal microtubules 1

Summary

Cytogenetic location
14q21.2
Coordinates
Chromosome 14: 44,962,190–45,074,431 (GRCh38)
Exons
20 exons across 112.2 kb
Protein
1,773 amino acids
Also known as
Crescerin-1, crescerin
Previous symbols
KIAA0423, FAM179B
MANE Select transcript
ENST00000361462.7NM_001308120.2
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

  • Joubert Syndrome And Related Disorders

    • Joubert Syndrome

      A ciliopathy defined by a malformation of the cerebellum and brainstem (the molar tooth sign), with low muscle tone, developmental delay and abnormal eye movements, sometimes with kidney, liver or eye involvement.

      • 2 GenCC submitters rate it definitive or strong

How TOGARAM1 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 TOGARAM1 sits. TOGARAM1 and 6 genes near it on chromosome 14, from 44,518,311 to 45,518,310.Chromosome 1414q21.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3344.6 Mb44.8 Mb45 Mb45.2 Mb45.4 MbDORIP1: 44,897,200–44,907,257, forward strandDORIP1KLHL28: 44,924,324–45,042,322, reverse strandKLHL28TOGARAM1: 44,962,190–45,074,431, forward strandTOGARAM1PRPF39: 45,084,074–45,116,282, forward strandPRPF39FKBP3: 45,112,188–45,135,319, reverse strandFKBP3FANCM: 45,135,909–45,200,890, forward strandFANCMMIS18BP1: 45,203,125–45,253,542, reverse strandMIS18BP1Diagram of TOGARAM1: 20 exons on the forward strand of chromosome 14Exon 1: 6 known disease-causing sitesExon 3: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 1: 44,962,190–44,964,467, 2,278 basesExon 2: 44,995,746–44,995,902, 157 basesExon 3: 44,999,363–44,999,497, 135 basesExon 4: 45,004,061–45,004,366, 306 basesExon 5: 45,006,008–45,006,267, 260 basesExon 6: 45,008,913–45,009,145, 233 basesExon 7: 45,011,975–45,012,075, 101 basesExon 8: 45,025,783–45,025,872, 90 basesExon 9: 45,027,299–45,027,474, 176 basesExon 10: 45,028,176–45,028,329, 154 basesExon 11: 45,032,223–45,032,376, 154 basesExon 12: 45,043,686–45,043,791, 106 basesExon 13: 45,044,635–45,044,870, 236 basesExon 14: 45,046,545–45,046,703, 159 basesExon 15: 45,052,436–45,052,562, 127 basesExon 16: 45,054,431–45,054,549, 119 basesExon 17: 45,066,578–45,066,767, 190 basesExon 18: 45,068,424–45,068,643, 220 basesExon 19: 45,071,712–45,071,798, 87 basesExon 20: 45,073,296–45,074,431, 1,136 bases124681012141618205′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 6.4 kb of the gene's 112.2 kb; 5,322 of those bases code for the protein.

How a genome test reads TOGARAM1

18

positions in TOGARAM1 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 112.2 kb of TOGARAM1, introns included, not only the 6.4 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.). TOGARAM1 gene: TOG array regulator of axonemal microtubules 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/togaram1

Vancouver

Dante Labs. TOGARAM1 gene: TOG array regulator of axonemal microtubules 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/togaram1

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