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Gen
RNU4ATAC
RNA, U4atac small nuclear
- HGNC 34016↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000264229↗(åbnes i en ny fane)
- NCBI Gene 100151683↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 2q14.2
- Koordinater
- Kromosom 2: 121.530.880–121.531.009 (GRCh38)
- Exoner
- 1 exon fordelt over 0,1 kb
- Også kendt som
- RNU4ATAC1, U4atac
- MANE Select-transkript
- ENST00000580972.2NR_023343.3
- Lokustype
- Small nuclear RNA (snRNA)
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Denne side som data
Tilføj .json til sidens adresse, eller bed om application/json, for at læse den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/rnu4atac.json"
page <- fromJSON(url)
page$gene$nameRNU4ATAC2q14.2
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Læs RNU4ATAC og resten af dit genom med én test.
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Bestil min Genome TestKurateret rapport relevant for dette gen
Immuno-osseøse dysplasier
- Roifman syndromAutosomal recessiv
Forårsaget af ændringer i RNU4ATAC-genet kombinerer den skeletdysplasi, nedsat antistofproduktion, ændringer i nethinden og forsinket udvikling.
- 2 GenCC-indsendere vurderer den som definitiv eller stærk
▶Handlingsrelevans
Anerkendelse gør det muligt at give antistoferstatningsbehandling, når det er nødvendigt, og at følge udviklingen og øjnene passende.
Sådan er RNU4ATAC opbygget
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
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 0,1 kb af genets 0,1 kb.
Sekventering af RNU4ATAC
23
positioner i RNU4ATAC, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved at dække.
En helgenomsanalyse dækker alle 0,1 kb af RNU4ATAC, inklusive introner, og ikke kun de 0,1 kb eksoner.
Træk knyttet til RNU4ATAC
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, RNU4ATAC kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of limbs
- Curvature of little finger
- Short digit
- Shortened long bone of hand
- Abnormal shape of long bones of hand
- Abnormalities of the fingers
- Abnormality of the outermost finger bone
- Abnormality of the wide portion of a long bone
- Absent/small thighbone
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- Bilateral single transverse palmar creases
- Broad outermost finger bone
- Large hands
- Notched thighbone
- Short fingers or toes
- Short palm
- Single transverse palmar crease
- Smaller or shorter than typical limbs
- Coxa vara
- Delayed proximal femoral epiphyseal ossification
- Elbow flexion contracture
- Hip contracture
- Hip dislocation
- Irregular end part of innermost thighbone
- Limited elbow extension
- Short toe
- Wide head of thigh bone
- Bowing of the long bones
- Dislocated kneecap
- Dislocated radial head
- Elbow dislocation
- Notched first long bone of hand
- Preaxial polydactyly
- Short foot
- Short thumb
- Absent knee end part
- Bowed long bone in upper arm
- Bowed thighbone
- Enlarged wide portion of a long bone
- Inability to straighten knee
- Irregular thighbone end part
- Limb undergrowth
- Long foot
- Shallow acetabular fossae
- Short humerus
- Short thighbone
Abnormality of the musculoskeletal system
- Multiple epiphyseal dysplasia
- Squared iliac bones
- Abnormal bone maturation of vertebra
- Abnormal development of end part of bone
- Abnormal intervertebral disk morphology
- Abnormal shape of end part of bone
- Abnormal vertebral body morphology
- Abnormality of the pubic bone
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- Abnormality of the skeletal system
- Absent collarbone
- Delayed bone maturation
- Involuntary muscle stiffness, contraction, or spasm
- Irregular end part of long bone
- Large iliac wing
- Low muscle tone
- Muscle stiffness
- Osteopenia
- Osteoporosis
- Rigidity
- Softening of the bones
- Spasticity and rigidity of muscles
- Weak and soft bones
- Biconvex vertebral bodies
- Generalized decreased muscle tone
- Multiple joint dislocation
- Spondyloepiphyseal dysplasia
- Delayed maturation of end part of long bone
- Flattened vertebrae
- Joint stiffness
- 11 pairs of ribs
- Cleft vertebral arch
- Flexed joint that cannot be straightened
- Irregular vertebral endplates
- Long collarbone
- Shoulder flexion contracture
- Small end part of bone
- Small wings of the pelvic girdle
Abnormality of head or neck
- Abnormally small head
- Full lips
- Long philtrum
- Narrow nose
- Nasal tip, upturned
- Prominent nose
- Sloping forehead
- Thin red part of the upper lip
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- Bulbous nose
- Little lower jaw
- Long nose
- Loss of eyelashes
- Prominent back of the head
- Receding chin
- Short neck
- Thin eyebrow
- Bifid uvula
- Broad opening between the eyelids
- Cleft palate
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Long, narrow head
- Narrow nasal bridge
- Prominent eyelashes
- Submucous cleft hard palate
- Thickened skin folds of neck
- Underdeveloped tissue around nostril
- Zygomatic flattening
- Prominent metopic ridge
- Round face
- Short chin
- Short philtrum
- Small anterior fontanelle
- Sparse eyebrow
- Sparse eyelashes
- Sparse scalp hair
Abnormality of the nervous system
- Intellectual disability, mild
- Brief seizures with staring spells
- Epilepsy
- Epileptic spasm
- Global developmental delay
- Intellectual disability
- Repeated seizures without recovery between them
- Specific learning disability
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- Agenesis of corpus callosum
- Hippocampal atrophy
- IQ between 34 and 49
- More grooves in brain
- Underdevelopment of part of brain called corpus callosum
- Abnormal cortical gyration
- Aplasia/Hypoplasia of the corpus callosum
- Cerebellar vermis hypoplasia
- Colpocephaly
- Fewer and broader ridges in brain
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Gray matter heterotopia
- Interhemispheric cyst
- Lateral ventricle dilatation
- Loss of consciousness
- Microlissencephaly
- Partial agenesis of the corpus callosum
- Small cerebrum
- Too much cerebrospinal fluid in the brain
- Worsening neurological symptoms
- Agenesis of cerebellar vermis
- Underdeveloped frontal lobe
Abnormality of the cardiovascular system
- Enlarged liver and spleen
- Swollen lymph nodes
- An opening in the wall separating the top two chambers of the heart
- High blood pressure
- Hole in heart wall separating two lower heart chambers
- Muscular ventricular septal defect
- Noncompaction cardiomyopathy
- Patent foramen ovale
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Abnormality of the eye
- Involuntary, rapid, rhythmic eye movements
- Bulging eye
- Glaucoma
- Abnormal retinal pigmentation
- Breakdown of light-sensitive cells in back of eye
- Difficulties with night vision
- Loss of peripheral vision
- Pigmentary retinopathy
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Abnormality of the genitourinary system
- Abnormality of the kidney
- Abnormality of the upper urinary tract
- Hydronephrosis
- Hydroureter
- Urinary tract abnormalities
- Undescended testes
- Polycystic kidney dysplasia
- Cystic kidney disease
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Eksterne links
Genposter
Transkript
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 2026-10-17: 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 2026.10.17-8666dff2.
Citér denne side
Dante Labs. (u.d.). RNU4ATAC-genet: RNA, U4atac small nuclear. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/rnu4atac
Dante Labs. RNU4ATAC-genet: RNA, U4atac small nuclear [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/rnu4atac
AtlasHvem vi hjælperVores videnskabProdukterResultater
Log indSpørgSekvenér dit genom↗
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger