AtlasGene
FRYL
FRY like transcription coactivator
- HGNC 29127↗(opens in a new tab)
- Ensembl gene ENSG00000075539↗(opens in a new tab)
- NCBI Gene 285527↗(opens in a new tab)
Summary
- Cytogenetic location
- 4p11
- Coordinates
- Chromosome 4: 48,497,357–48,780,279 (GRCh38)
- Exons
- 64 exons across 282.9 kb
- Protein
- 3,013 amino acids
- Also known as
- DKFZp686E205, AF4p12, MOR2
- Previous symbols
- KIAA0826
- MANE Select transcript
- ENST00000358350.9NM_015030.2
- Locus type
- Protein-coding
AtlasThis page as data
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How FRYL is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 11.7 kb of the gene's 282.9 kb; 9,042 of those bases code for the protein.
Sequencing FRYL
1Easy
How hard FRYL is to sequence with short reads, out of 100
0 · Easy100 · Hard
Almost all of FRYL's exons sit where short reads map cleanly.
What adds to it: the share of FRYL's exons in each kind of hard region
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.1.7%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.2.6%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scoredEach bar is the share of FRYL's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
15
positions in FRYL 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 282.9 kb of FRYL, introns included, not only the 11.7 kb of exons.
ClinVar pathogenic variants (15)
The FRYL variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.
- Pathogenic 3
- Likely pathogenic 12
| Variant | Conditions | ClinVar classification | Review status |
|---|---|---|---|
| NM_015030.2(FRYL):c.3568_3569insTT (p.Lys1190fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.2147del (p.Leu716fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.1160C>G (p.Ser387Ter) (opens in a new tab) | Pan-Chung-Bellen syndrome | Pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.7615G>T (p.Glu2539Ter) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.5954_5955del (p.Lys1985fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.5336dup (p.Ser1780fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.5316dup (p.Ala1773fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.5174dup (p.Asn1725fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.5059_5063del (p.Leu1686_Asp1687insTer) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.4519_4520dup (p.Ser1507fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.2997-2A>G (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.1801C>T (p.Gln601Ter) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.889dup (p.Tyr297fs) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.577C>T (p.Gln193Ter) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
| NM_015030.2(FRYL):c.112G>T (p.Glu38Ter) (opens in a new tab) | Pan-Chung-Bellen syndrome | Likely pathogenic | ★★★★1 star out of 4 criteria provided, single submitter |
Traits linked to FRYL
The Human Phenotype Ontology lists these as features of the rare conditions FRYL can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Absent spleen
- Increased blood pressure in blood vessels of lungs
- Multiple small spleens
- Patent foramen ovale
- An opening in the wall separating the top two chambers of the heart
- Heart tip and four chambers point towards right side of body
- Hole in center of heart
- Hole in heart wall separating two lower heart chambers
External links
Gene records
Transcript
Protein
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.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). FRYL gene: FRY like transcription coactivator. Retrieved 18 October 2026, from https://dantelabs.com/genes/fryl
Dante Labs. FRYL gene: FRY like transcription coactivator [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/fryl
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