Gene
CREBBP
CREB binding lysine acetyltransferase
- HGNC 2348(si apre in una nuova scheda)
- Gene Ensembl ENSG00000005339(si apre in una nuova scheda)
- NCBI Gene 1387(si apre in una nuova scheda)
Sintesi
- Localizzazione citogenetica
- 16p13.3
- Coordinate
- Cromosoma 16: 3.725.054–3.880.713 (GRCh38)
- Esoni
- 31 esoni su 155,7 kb
- Proteina
- 2442 amminoacidi
- Noto anche come
- RTS, CBP, KAT3A
- Simboli precedenti
- RSTS
- Trascritto MANE Select
- ENST00000262367.10NM_004380.3
- Tipo di locus
- gene with protein product
- Molto alta
- Buona
- Bassa
- Molto bassa
Genoma di riferimentoGRCh38hg38
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Disabilità intellettiva
Uno di 233 geni collegati ad esso
- ClinGen valuta il legame come definitivo
- 5 segnalatori GenCC lo valutano come definitivo o forte
Struttura di CREBBP
- Sequenza codificante
- Regione non tradotta
- Introne
- Direzione della trascrizione
- Siti noti causativi di malattia
- Regioni che le letture brevi faticano a leggere
Esoni del trascritto MANE Select del gene (versione v1.5), da NCBI ed EMBL-EBI, sul genoma di riferimento GRCh38.
Bande cromosomiche dall'ideogramma GRCh38 di UCSC (2022-10-29).
Geni vicini dalla release 116 di Ensembl, su GRCh38.
Gli esoni costituiscono 10,8 kb dei 155,7 kb del gene; 7329 di queste basi codificano la proteina.
Come un test genomico legge CREBBP
314
posizioni in CREBBP in cui ClinVar classifica una variante come patogena o probabilmente patogena
Nessuna di esse si trova in una regione che le letture brevi faticano a leggere.
Un genoma intero copre tutti i 155,7 kb di CREBBP, introni inclusi, non solo i 10,8 kb di esoni.
Tratti collegati a CREBBP
L'Human Phenotype Ontology elenca questi come caratteristiche delle rare condizioni che CREBBP può causare. La pagina di ciascun tratto elenca gli altri geni ad esso collegati.
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
Mostra altri 61 tratti
- 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
Mostra altri 39 tratti
- 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
Mostra altri 19 tratti
- 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
Mostra altri 13 tratti
- 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
- Hearing impairment
- Overfolded ears
- Prominent ear
- Prominent inferior crus of antihelix
- Absent earlobe
- Conductive deafness
Mostra altri 3 tratti
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
Mostra altri 3 tratti
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
Mostra altri 1 tratto
Growth abnormality
- Faltering weight
- Growth delay
- Growth delay as children
- Obesity
- Prenatal growth deficiency
- Short stature
- Small for gestational age
- Overweight
Mostra altri 1 tratto
Link esterni
Schede genetiche
Trascritto
Proteina
Da dove provengono questi dati
- HGNC: il simbolo del gene, il nome, altri simboli e la posizione.
- MANE Select v1.5, da NCBI ed EMBL-EBI: il trascritto, i suoi esoni e la sequenza codificante.
- GenCC e ClinGen, rilasciati 2026-10-16: a quali condizioni è associato il gene e con quale forza.
- La lista ACMG dei reperti secondari, SF v3.2.
- ClinVar e le stratificazioni GIAB: siti noti associati a malattie e le regioni che le letture corte trovano difficili da analizzare.
- The Human Phenotype Ontology, versione 2026-09-01: i tratti collegati al gene. Scopri di più su hpo.jax.org.
- Rilascio dei dati 2026.10.16-c6eea6bf.
Cita questa pagina
Dante Labs. (s.d.). Gene CREBBP: CREB binding lysine acetyltransferase. Consultato il 17 ottobre 2026, da https://dantelabs.com/it/genes/crebbp
Dante Labs. Gene CREBBP: CREB binding lysine acetyltransferase [Internet]. [citato il 17 ottobre 2026]. Disponibile da: https://dantelabs.com/it/genes/crebbp
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