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Gene

RPGRIP1L

RPGRIP1 like

Summary

Cytogenetic location
16q12.2
Coordinates
Chromosome 16: 53,598,153–53,703,859 (GRCh38)
Exons
27 exons across 105.7 kb
Protein
1,315 amino acids
Inheritance
Autosomal recessive
Also known as
KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134
MANE Select transcript
ENST00000647211.2NM_015272.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports 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.

      • 1 GenCC submitter rates it definitive or strong

  • Meckel Syndrome

    • Autosomal recessive

      A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

      • 1 GenCC submitter rates it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RPGRIP1L 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 RPGRIP1L sits. RPGRIP1L and 4 genes near it on chromosome 16, from 53,151,006 to 54,151,005.Chromosome 1616q12.2p13.3p13.2p13.13p13.12p13.11p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q13q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.353.2 Mb53.4 Mb53.6 Mb53.8 Mb54 MbCHD9: 53,054,968–53,329,150, forward strandCHD9RBL2: 53,433,977–53,491,668, forward strandRBL2AKTIP: 53,490,502–53,504,411, reverse strandAKTIPRPGRIP1L: 53,598,153–53,703,859, reverse strandRPGRIP1LFTO: 53,701,692–54,158,512, forward strandFTODiagram of RPGRIP1L: 27 exons on the reverse strand of chromosome 16Exon 26: 1 known disease-causing siteExon 25: 5 known disease-causing sitesExon 24: 17 known disease-causing sitesExon 23: 5 known disease-causing sitesExon 22: 3 known disease-causing sitesExon 21: 6 known disease-causing sitesExon 20: 6 known disease-causing sitesExon 19: 4 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 17: 27 known disease-causing sitesExon 16: 13 known disease-causing sitesExon 15: 35 known disease-causing sitesExon 14: 6 known disease-causing sitesExon 13: 13 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 12 known disease-causing sitesExon 10: 11 known disease-causing sitesExon 9: 6 known disease-causing sitesExon 8: 6 known disease-causing sitesExon 7: 7 known disease-causing sitesExon 6: 17 known disease-causing sitesExon 5: 8 known disease-causing sitesExon 4: 19 known disease-causing sitesExon 3: 7 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 27: 53,598,153–53,602,188, 4,036 basesExon 26: 53,605,481–53,605,614, 134 basesExon 25: 53,610,967–53,611,051, 85 basesExon 24: 53,619,025–53,619,208, 184 basesExon 23: 53,622,219–53,622,356, 138 basesExon 22: 53,636,439–53,636,512, 74 basesExon 21: 53,637,695–53,637,854, 160 basesExon 20: 53,638,310–53,638,411, 102 basesExon 19: 53,641,033–53,641,116, 84 basesExon 18: 53,641,285–53,641,475, 191 basesExon 17: 53,645,625–53,646,003, 379 basesExon 16: 53,648,964–53,649,115, 152 basesExon 15: 53,652,535–53,652,987, 453 basesExon 14: 53,656,472–53,656,589, 118 basesExon 13: 53,657,453–53,657,632, 180 basesExon 12: 53,658,414–53,658,464, 51 basesExon 11: 53,658,772–53,658,878, 107 basesExon 10: 53,664,870–53,665,009, 140 basesExon 9: 53,671,510–53,671,583, 74 basesExon 8: 53,672,870–53,673,016, 147 basesExon 7: 53,675,017–53,675,122, 106 basesExon 6: 53,686,433–53,686,576, 144 basesExon 5: 53,687,863–53,687,965, 103 basesExon 4: 53,692,066–53,692,364, 299 basesExon 3: 53,696,151–53,696,295, 145 basesExon 2: 53,700,639–53,700,730, 92 basesExon 1: 53,703,803–53,703,859, 57 bases2725201510515′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 7.9 kb of the gene's 105.7 kb; 3,948 of those bases code for the protein.

How a genome test reads RPGRIP1L

301

positions in RPGRIP1L 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 105.7 kb of RPGRIP1L, introns included, not only the 7.9 kb of exons.

Genes linked to the same conditions

Traits linked to RPGRIP1L

The Human Phenotype Ontology lists these as features of the rare conditions RPGRIP1L 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.
  • 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.). RPGRIP1L gene: RPGRIP1 like. Retrieved 17 October 2026, from https://dantelabs.com/genes/rpgrip1l

Vancouver

Dante Labs. RPGRIP1L gene: RPGRIP1 like [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rpgrip1l

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