Gen
RERE
arginine-glutamic acid dipeptide repeats
- HGNC 9965↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000142599↗(åbnes i en ny fane)
- NCBI Gene 473↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 1p36.23
- Koordinater
- Kromosom 1: 8.352.404–8.817.640 (GRCh38)
- Exoner
- 23 exoner fordelt over 465,2 kb
- Protein
- 1.566 aminosyrer
- Også kendt som
- KIAA0458, ARP, ARG, DNB1, ATN2
- Tidligere symboler
- ATN1L
- MANE Select-transkript
- ENST00000400908.7NM_001042681.2
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
Læs RERE og resten af dit genom med én test.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Ingen Genome Test-rapport læser RERE endnu. Testen sekventerer hele dit genom, så dine data omfatter det alligevel.
Sådan er RERE 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 kb af genets 465,2 kb; 4.701 af disse baser koder for proteinet.
Sådan læser en genomtest RERE
42
positioner i RERE, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
6 af dem (14 %) ligger i regioner, som korte læsninger har svært ved.
- Segmental duplications (6 steder)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
En helgenomsanalyse dækker alle 465,2 kb af RERE, inklusive introner, og ikke kun de 8 kb eksoner.
Træk knyttet til RERE
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, RERE kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Autism spectrum disorder
- Focal impaired awareness seizure
- Global developmental delay
- Abnormal gait
- Abnormal speech pattern
- Absent speech development
- Agenesis of corpus callosum
- Decrease in size of the outer layer of the brain due to loss of brain cells
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- Delayed speech and language development
- EEG abnormality
- Intellectual disability
- Poor speech
- Ventriculomegaly
- Autism
- Behavioral abnormality
- Brain imaging abnormality
- Cerebellar vermis hypoplasia
- Epilepsy
- Reduced cerebral white matter volume
- Repetitive movements
- Self-injurious behavior
- Thin corpus callosum
- Underdevelopment of part of brain called corpus callosum
- Abnormal cranial nerve physiology
- Attention deficit
- Cancer of early nerve cells
- CNS demyelination
- Cranial nerve paralysis
- Delayed CNS myelination
- Difficulty articulating speech
- Head-banging
- Hypoplasia of the pons
- Hypoplastic anterior commissure
- Increased appetite
- Paralysis or weakness of one side of body
- Pauses in breathing while sleeping
Abnormality of head or neck
- Horizontal eyebrow
- Long philtrum
- Midface retrusion
- Pointed chin
- Wide nasal bridge
- Abnormality of the eyebrow
- Abnormally small head
- Broad head shape
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- Delayed cranial suture closure
- Depressed nasal bridge
- Eye folds
- Flat nose
- Narrow mouth
- Abnormal facial shape
- Abnormality of the neck
- Big calvaria
- Blockage of the rear opening of the nasal cavity
- Broad eyebrow
- Bulbous nose
- Cleft lip
- Downward slanting of the opening between the eyelids
- Frontal bossing
- Grooved tongue
- High palate
- Little lower jaw
- Narrow opening between the eyelids
- Nasal tip, upturned
- Pit in front of the ear
- Smooth philtrum
- Triangular face
- Upward slanting of the opening between the eyelids
- Wide gum ridges
- Widow's peak
Abnormality of the eye
- Anisometropia
- Astigmatism
- Cerebral visual impairment
- Optic nerve hypoplasia
- Deeply set eye
- Abnormality of the eye
- Abnormality of vision
- Cross-eyed
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- Severe farsightedness
- Abnormally close eyes
- Abnormally small eyeball
- Absent pigmentation in the eye
- Birth defect that causes a hole in the innermost layer at the back of the eye
- Cat eye
- Close sighted
- Clouding of the lens of the eye
- Drooping upper eyelid
- Involuntary, rapid, rhythmic eye movements
- Inward turning cross eyed
- Notched pupil
- Optic atrophy
- Outward facing eye ball
- Peters anomaly
- Visual impairment
- Wide-set eyes
Abnormality of the musculoskeletal system
- Low muscle tone
- 11 pairs of ribs
- Abnormal formation of the hip
- Cleft ribs
- Excessive inward curvature of lower spine
- Hunched back
- Joint stiffness
- Muscle tissue disease
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Abnormality of the genitourinary system
- Chordee
- Small kidneys
- Vesicoureteral reflux
- Abnormal female external genitalia
- Abnormality of the genitourinary system
- Abnormality of the kidney
- Cystic kidney disease
- Hydronephrosis
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Abnormality of limbs
- Broad thumb
- Single transverse palmar crease
- Permanent flexion of the finger
- Short fingers or toes
- Short foot
- Curvature of little finger
- Duplication of bones of the toes
- Left and right leg differ in length or width
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Abnormality of the ear
- Ears rotated toward back of head
- Conductive deafness
- Earlobe crease
- Hearing impairment
- Low-set ears
- Prominent stem of antihelix
- Sensorineural hearing impairment
- Simple ear
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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.
- 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.). RERE-genet: arginine-glutamic acid dipeptide repeats. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/rere
Dante Labs. RERE-genet: arginine-glutamic acid dipeptide repeats [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/rere
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger