Gen
ELFN1
extracellular leucine rich repeat and fibronectin type III domain containing 1
- HGNC 33154↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000225968↗(åbnes i en ny fane)
- NCBI Gene 392617↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 7p22.3
- Koordinater
- Kromosom 7: 1.670.277–1.747.946 (GRCh38)
- Exoner
- 4 exoner fordelt over 77,7 kb
- Protein
- 828 aminosyrer
- Tidligere symboler
- PPP1R28
- MANE Select-transkript
- ENST00000424383.5NM_001128636.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
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Sådan er ELFN1 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 4 kb af genets 77,7 kb; 2.487 af disse baser koder for proteinet.
Træk knyttet til ELFN1
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, ELFN1 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Absent speech development
- Axial dystonia
- Babinski sign
- Delayed CNS myelination
- Delayed speech and language development
- EEG with burst suppression
- EEG with focal slow activity
- Generalized-onset motor seizure
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- Intellectual disability, severe
- Interictal EEG abnormality
- Lack of coordination of movement
- Leg paralysis
- Mild global developmental delay
- Moderate global developmental delay
- Motor seizure
- Repetitive movements
- Self-mutilation
- Severe global developmental delay
- Delayed ability to walk
- Abnormality of balance
- Attention deficit
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with generalized onset
- Clonus
- Delayed ability to sit
- Epilepsy
- Generalized clonic seizure
- Inability to walk
- Reduced cerebral white matter volume
- Thin corpus callosum
- Tonic seizure
- Unsteady walk
- Absent reflexes
- Epileptic spasm
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Generalized-onset seizure
- Increased reflexes
- Myoclonic seizure
- Repeated seizures without recovery between them
Abnormality of head or neck
- Broad chin
- Coarse facial features
- Decreased facial muscle tone
- Depressed nasal bridge
- Drooling
- Drooping lower lip
- Eye folds
- Full lower lip
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- High frontal hairline
- Long face
- Long philtrum
- Monobrow
- Narrow forehead
- Pointed chin
- Prominent forehead
- Receding chin
- Short columella
- Short philtrum
- Small head present at birth
- Smooth philtrum
- Sparse eyebrow
- Tented mouth
- Triangular face
- Upward slanting of the opening between the eyelids
- Wide mouth
- Prominent nasal bridge
- Thin red part of the upper lip
Abnormality of the musculoskeletal system
- Double-Jointed
- EMG: positive sharp waves
- Generalized decreased muscle tone
- Limb contractures
- Low muscle tone in trunk
- Poor head control
- Spastic tetraparesis
- Appendicular spasticity
Vis 3 træk mere
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
Citér denne side
Dante Labs. (u.d.). ELFN1-genet: extracellular leucine rich repeat and fibronectin type III domain containing 1. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/elfn1
Dante Labs. ELFN1-genet: extracellular leucine rich repeat and fibronectin type III domain containing 1 [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/elfn1
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger