Gen
CREBBP
CREB binding lysine acetyltransferase
- HGNC 2348(åbnes i en ny fane)
- Ensembl-gen ENSG00000005339(åbnes i en ny fane)
- NCBI Gene 1387(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 16p13.3
- Koordinater
- Kromosom 16: 3.725.054–3.880.713 (GRCh38)
- Exoner
- 31 exoner fordelt over 155,7 kb
- Protein
- 2.442 aminosyrer
- Også kendt som
- RTS, CBP, KAT3A
- Tidligere symboler
- RSTS
- MANE Select-transkript
- ENST00000262367.10NM_004380.3
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs CREBBP og resten af dit genom med én test.
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Bestil min Genome TestKurateret rapport relevant for dette gen
Intellektuel funktionsnedsættelse
Et af 233 gener, der er knyttet til det
- ClinGen vurderer forbindelsen som definitivt
- 5 GenCC-indsendere vurderer den som definitiv eller stærk
Sådan er CREBBP 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 10,8 kb af genets 155,7 kb; 7.329 af disse baser koder for proteinet.
Sådan læser en genomtest CREBBP
314
positioner i CREBBP, 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 155,7 kb af CREBBP, inklusive introner, og ikke kun de 10,8 kb eksoner.
Træk knyttet til CREBBP
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, CREBBP kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of head or neck
- Bad bite
- Beaked nose
- Blocked tear duct
- Broad eyebrow
- Cleft palate
- Decreased size of maxilla
- Dental crowding
- Deviated nasal septum
Vis 61 træk mere
- Downward slanting of the opening between the eyelids
- Extra cusp on inside of front tooth
- Hairy forehead
- High, narrow palate
- Highly arched eyebrow
- Long eyelashes
- Low hanging columella
- Narrow mouth
- Narrow palate
- Prominent forehead
- Short columella
- Smooth philtrum
- Thin red part of the upper lip
- Wide nasal bridge
- Abnormal facial shape
- Facial grimacing
- High palate
- Little lower jaw
- Low frontal hairline
- Prominent nasal septum
- Abnormal dentition
- Abnormality of the philtrum
- Abnormally small head
- Corners of eye widely separated
- Depressed nasal bridge
- Development of small head that was not present at birth
- Drooping upper lip
- Eye folds
- Flat face
- Flat nose
- Long philtrum
- Narrow opening between the eyelids
- Nasal tip, upturned
- Recurrent colds
- Short nose
- Short opening between the eyelids
- Slanting of the opening between the eyelids
- Square face
- Upward slanting of the opening between the eyelids
- Abnormal posterior cranial fossa morphology
- Absence of adult teeth
- Deep philtrum
- Dental cavities
- Extra teeth
- Failure of development of between one and six teeth
- Full cheeks
- Ingrown eyelashes
- Narrow nasal bridge
- Prominent nose
- Short philtrum
- Thick eyebrow
- Underdeveloped tissue around nostril
- Born with teeth
- Big foramen magnum
- Delayed cranial suture closure
- Frontal bossing
- Holes in parietal bones
- Low hairline at back of neck
- Receding chin
- Thin dental enamel
- Wider-than-typical soft spot of skull
Abnormality of the nervous system
- Agenesis of corpus callosum
- Delayed speech and language development
- Global developmental delay
- Incoordination
- Intellectual disability
- Split spine
- Neurodevelopmental delay
- Abnormal fear-induced behavior
Vis 39 træk mere
- Autism spectrum disorder
- Behavioral abnormality
- Brain imaging abnormality
- Can't control feelings
- EEG abnormality
- Fear of open spaces
- Impulsivity
- Motor delay
- 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
- Epilepsy
- Hyperintensity of cerebral white matter on MRI
- More active than typical
- Noncancerous growth of membranes covering brain
- Self-injurious behavior
- Cerebral white matter atrophy
- Cervical cord compression
- Fluid-filled cyst in spinal cord
- Spinal cord tumor
- Tethered cord
- Autism
- Delayed ability to walk
- 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 thumb
- Webbed fingers or toes
- Broad big toe
- Broad thumb
- Widened outermost bone of limb
- Abnormality of the innermost finger bones of the hand
Vis 19 træk mere
- Gap between 1st and 2nd toes
- Avascular necrosis of the capital femoral epiphysis
- Club feet
- Curvature of little finger
- Cutaneous syndactyly
- Dislocated kneecap
- Displacement of big toe
- Inward turned thumb
- More than five fingers or toes on hands or feet
- Overlapping toe
- Webbed skin of toes
- Dislocated radial head
- Dropped arches
- Duplication of big toe bone
- High axial triradius
- Plantar crease between first and second toes
- Prominent fingertip pads
- 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 musculoskeletal system
- Double-Jointed
- Low muscle tone
- Delayed bone maturation
- Abnormal cervical spine
- Abnormal curve of the backbone
- Abnormal formation of the hip
- Flexed joint that cannot be straightened
- Scoliosis
Vis 3 træk mere
Abnormality of the digestive system
- Acid reflux
- Feeding difficulties in infancy
- Chronic constipation
- Constipation
- Feeding difficulties
- Inguinal hernia
- Nasogastric tube feeding in infancy
- Umbilical hernia
Vis 1 træk mere
Growth abnormality
- Faltering weight
- Growth delay
- Growth delay as children
- Obesity
- Prenatal growth deficiency
- Short stature
- Small for gestational age
- Overweight
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.). CREBBP-genet: CREB binding lysine acetyltransferase. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/crebbp
Dante Labs. CREBBP-genet: CREB binding lysine acetyltransferase [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/crebbp
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger