Gene
FRAS1
Fraser extracellular matrix complex subunit 1
- HGNC 19185↗(opens in a new tab)
- Ensembl gene ENSG00000138759↗(opens in a new tab)
- NCBI Gene 80144↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q21.21
- Coordinates
- Chromosome 4: 78,057,323–78,544,269 (GRCh38)
- Exons
- 74 exons across 486.9 kb
- Protein
- 4,012 amino acids
- Also known as
- FLJ22031, FLJ14927, KIAA1500
- MANE Select transcript
- ENST00000512123.4NM_025074.7
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads FRAS1 yet. The test sequences your whole genome, so your data includes it all the same.
How FRAS1 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 15.9 kb of the gene's 486.9 kb; 12,039 of those bases code for the protein.
How a genome test reads FRAS1
151
positions in FRAS1 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 486.9 kb of FRAS1, introns included, not only the 15.9 kb of exons.
Traits linked to FRAS1
The Human Phenotype Ontology lists these as features of the rare conditions FRAS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cryptophthalmos
- Absent tear duct
- Malformed tear ducts
- Abnormal of nasal shape
- Bad bite
- Cleft palate
- Cleft tongue
- Cleft upper lip
Show 20 more traits
- Dental crowding
- Depressed nasal bridge
- Facial asymmetry
- Abnormally small head
- Cleft nostril
- Cleft of the mouth
- Cranial defect
- Encephalocele
- High palate
- Midline nasal groove
- Underdeveloped tissue around nostril
- Wide nasal bridge
- Absent eyebrow
- Absent eyelashes
- Cleft of the face
- Cleft upper eyelid
- Extension of hair growth on temples to lateral eyebrow
- Narrowing of the rear opening of the nasal cavity
- Tongue muscle weakness
- Wide nose
Abnormality of the ear
- Abnormality of the middle ear
- Abnormality of the outer ear
- Abnormally shaped ears
- Conductive deafness
- Ears rotated toward back of head
- Absent ear canal
- Small ears
- Cupped ear
Show 3 more traits
Abnormality of the digestive system
- Absent anus
- Anorectal anomaly
- Narrowing of anal opening
- Abnormal anus position
- Omphalocele
- Umbilical hernia
- Abnormal belly button
- Abnormal small intestine morphology
Show 1 more trait
Abnormality of the respiratory system
- Laryngeal stenosis
- Laryngeal hypoplasia
- Pulmonary hyperplasia
- Abnormal lung lobation
- Narrowing of windpipe
- Poorly developed lungs
- Subglottic stenosis
- Laryngeal atresia
Show 1 more trait
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 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
Dante Labs. (n.d.). FRAS1 gene: Fraser extracellular matrix complex subunit 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/fras1
Dante Labs. FRAS1 gene: Fraser extracellular matrix complex subunit 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fras1
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