Gen
EP300
EP300 lysine acetyltransferase
- HGNC 3373(åbnes i en ny fane)
- Ensembl-gen ENSG00000100393(åbnes i en ny fane)
- NCBI Gene 2033(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 22q13.2
- Koordinater
- Kromosom 22: 41.092.592–41.180.077 (GRCh38)
- Exoner
- 31 exoner fordelt over 87,5 kb
- Protein
- 2.414 aminosyrer
- Også kendt som
- p300, KAT3B
- MANE Select-transkript
- ENST00000263253.9NM_001429.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs EP300 og resten af dit genom med én test.
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Intellektuel funktionsnedsættelse
Et af 233 gener, der er knyttet til det
- ClinGen vurderer forbindelsen som definitivt
- 6 GenCC-indsendere vurderer den som definitiv eller stærk
Sådan er EP300 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- 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 8,8 kb af genets 87,5 kb; 7.245 af disse baser koder for proteinet.
Sådan læser en genomtest EP300
141
positioner i EP300, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 87,5 kb af EP300, inklusive introner, og ikke kun de 8,8 kb eksoner.
Træk knyttet til EP300
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, EP300 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of head or neck
- Abnormally small head
- Absence of adult teeth
- Bad bite
- Beaked nose
- Blocked tear duct
- Broad eyebrow
- Cleft palate
- Decreased size of maxilla
Vis 51 træk mere
- Dental crowding
- Depressed nasal bridge
- Deviated nasal septum
- Downward slanting of the opening between the eyelids
- Extra cusp on inside of front tooth
- Flat face
- Hairy forehead
- High, narrow palate
- Highly arched eyebrow
- Long eyelashes
- Low hanging columella
- Narrow mouth
- Narrow palate
- Prominent forehead
- Recurrent colds
- Short columella
- Short opening between the eyelids
- Smooth philtrum
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Abnormal facial shape
- Development of small head that was not present at birth
- Facial grimacing
- High palate
- Little lower jaw
- Low frontal hairline
- Prominent nasal septum
- Deep philtrum
- Dental cavities
- Eye folds
- Full cheeks
- Narrow nasal bridge
- Narrow opening between the eyelids
- Prominent nose
- Receding chin
- Square face
- Thick eyebrow
- Abnormal posterior cranial fossa morphology
- Extra teeth
- Failure of development of between one and six teeth
- Ingrown eyelashes
- Born with teeth
- Big foramen magnum
- Deep bite
- Delayed cranial suture closure
- Frontal bossing
- Holes in parietal bones
- Low hairline at back of neck
- Thin dental enamel
- Wider-than-typical soft spot of skull
Abnormality of the nervous system
- Agenesis of corpus callosum
- Autism spectrum disorder
- Delayed ability to walk
- Delayed speech and language development
- Global developmental delay
- Incoordination
- Intellectual disability
- Split spine
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- Neurodevelopmental delay
- Abnormal fear-induced behavior
- Behavioral abnormality
- Brain imaging abnormality
- Can't control feelings
- Fear of open spaces
- Impulsivity
- Intellectual disability, mild
- More active than typical
- Obsessive compulsive behavior
- Obstructive sleep apnea
- Panic attack
- Poor social interactions
- Repetitive movements
- Social and occupational deterioration
- Abnormal corpus callosum morphology
- Abnormal lateral ventricle morphology
- Absent speech development
- Aggressive behavior
- Chiari malformation
- Chiari type I malformation
- Delayed myelination
- Hyperintensity of cerebral white matter on MRI
- Noncancerous growth of membranes covering brain
- Self-injurious behavior
- Cervical cord compression
- EEG abnormality
- Epilepsy
- Fluid-filled cyst in spinal cord
- Autism
- Delayed motor skills
- Fear of loud sounds
- Increased reflexes
- Self-mutilation
- Short attention span
- Spina bifida occulta
- Unsteady walk
Abnormality of limbs
- Broad bone of big toe
- Broad outermost finger bone
- Short 1st long bone of foot
- Short little toe
- Short thumb
- Webbed fingers or toes
- Broad big toe
- Broad thumb
Vis 20 træk mere
- Widened outermost bone of limb
- Abnormality of the innermost finger bones of the hand
- Gap between 1st and 2nd toes
- Overlapping toe
- Prominent fingertip pads
- Webbed skin of toes
- Avascular necrosis of the capital femoral epiphysis
- Club feet
- Dislocated kneecap
- Displacement of big toe
- More than five fingers or toes on hands or feet
- Inward turned thumb
- Curvature of little finger
- Dislocated radial head
- Dropped arches
- Duplication of big toe bone
- High axial triradius
- Plantar crease between first and second toes
- Radial deviation of thumb terminal phalanx
- Single transverse palmar crease
Abnormality of the cardiovascular system
- Hepatic hemangioma
- Mitral valve prolapse
- Strawberry birthmark
- Abnormal cardiovascular system morphology
- Abnormality of the heart
- Accessory spleen
- Patent ductus arteriosus
- Abnormal subclavian artery morphology
Vis 13 træk mere
- An opening in the wall separating the top two chambers of the heart
- Aortic isthmus hypoplasia
- Cardiac conduction abnormality
- Hole in heart wall separating two lower heart chambers
- Narrowing of aorta
- Patent foramen ovale
- Perimembranous ventricular septal defect
- Persistent left superior vena cava
- Underdeveloped left heart
- Aortic valve has two leaflets rather than three
- Narrowing of aortic valve
- Narrowing of pulmonic valve
- Vascular ring
Abnormality of the ear
- Low-set ears
- Simple ear
- Absent earlobe
- Ears rotated toward back of head
- Hearing impairment
- Conductive deafness
- Middle ear infection
- Sensorineural hearing impairment
Vis 1 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.
- GenCC og ClinGen, udgivet 2026-10-16: hvilke sygdomme genet er knyttet til, og hvor stærkt.
- ACMG-listen over sekundære fund, SF v3.2.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). EP300-genet: EP300 lysine acetyltransferase. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/ep300
Dante Labs. EP300-genet: EP300 lysine acetyltransferase [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/ep300
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger