Gen
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
- HGNC 4948↗(åbnes i en ny fane)
- Ensembl-gen ENSG00000196126↗(åbnes i en ny fane)
- NCBI Gene 3123↗(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 6p21.32
- Koordinater
- Kromosom 6: 32.578.775–32.589.848 (GRCh38)
- Exoner
- 6 exoner fordelt over 11,1 kb
- Protein
- 266 aminosyrer
- Tidligere symboler
- HLA-DR1B
- MANE Select-transkript
- ENST00000360004.6NM_002124.4
- Lokustype
- Protein-coding
- Meget høj
- Sikker
- Lav
- Meget lav
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
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page$gene$nameLæs HLA-DRB1 og resten af dit genom med én test.
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Ingen Genome Test-rapport læser HLA-DRB1 endnu. Testen sekventerer hele dit genom, så dine data omfatter det alligevel.
Sådan er HLA-DRB1 opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- 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 1,2 kb af genets 11,1 kb; 801 af disse baser koder for proteinet.
Sekventering af HLA-DRB1
1
position i HLA-DRB1, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
1 af dem (100 %) ligger i en region, som korte læsninger har svært ved at dække.
- MHC (1 position)The major histocompatibility complex (HLA genes), highly polymorphic and poorly represented by a single reference.
- Segmental duplications (1 position)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 11,1 kb af HLA-DRB1, inklusive introner, og ikke kun de 1,2 kb eksoner.
Træk knyttet til HLA-DRB1
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, HLA-DRB1 kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of the nervous system
- Cataplexy
- Cognitive impairment
- CSF pleocytosis
- Difficulty sleeping
- Difficulty staying or falling asleep
- Excessive daytime sleepiness
- Hallucinations
- Headache
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- Transient global amnesia
- Abnormal rapid eye movement sleep
- Anxiety
- Attention deficit
- Depression
- Hypnagogic hallucination
- Hypnopompic hallucination
- NREM parasomnia
- Willis-Ekbom disease
- Abnormal cerebrospinal fluid morphology
- Ataxia
- Behavioral abnormality
- Difficulty articulating speech
- Difficulty finding words
- Epilepsy
- Migraine
- Pauses in breathing while sleeping
- Peripheral neuropathy
- Pins and needles feeling
- Restlessness
- Sleep paralysis
- Slurred speech
- Visual hallucinations
- Chorea
- Psychosis
- Can't control feelings
- CNS demyelination
- Incoordination
Abnormality of the cardiovascular system
- Disruption of blood oxygen supply to brain
- Hives
- Inflammation of blood vessel
- Redness of skin or mucous membrane
- Swollen lymph nodes
- Swollen lymph nodes in center of chest
- Abnormal systemic blood pressure
- Foam cells
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- High blood pressure
- Increased spleen size
- Jaw pain while chewing
- Mucosal telangiectasiae
- Raynaud phenomenon
- Telangiectasia of the skin
- Abdominal aortic aneurysm
- Abnormal cardiac ventricular function
- Abnormal heart rate
- Abnormal lymph node histology
- Absent superficial temporal artery pulse
- Cardiac failure
- Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
- Fainting spell
- Heart block
- Hypertensive crisis
- Increased blood pressure in blood vessels of lungs
- increased pulmonary artery pressure
- Livedo reticularis
- Portal hypertension
- Sudden cardiac death
- Swelling or irritation of membrane around heart
- Tear in inner wall of large artery that carries blood away from heart
- Ventricular tachycardia
- Fluid around heart
- Generalized swelling of lymph nodes
Abnormality of the eye
- Abnormal pupillary function
- Blurred vision
- Chorioretinal hypopigmentation
- Clouding of the lens of the eye
- High eye pressure
- Iridocyclitis
- Posterior subcapsular cataract
- Retinal detachment
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- Retinal nerve fiber edema
- Uveitis
- Visual impairment
- Weakness of muscles controlling eye movement
- Amaurosis fugax
- Anterior uveitis
- Blindness
- Corneal keratic precipitates
- Dalen-Fuchs nodules
- Damaged optic nerve
- Double vision
- Drooping upper eyelid
- Extreme sensitivity of the eyes to light
- Glaucoma
- Increased tears
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Partial loss of field of vision
- Posterior synechiae of the anterior chamber
- Visual loss
- Noninflammatory retina disease
- Chorioretinitis
Abnormality of the immune system
- Antinuclear antibody positivity
- Autoimmunity
- Eczema
- Recurrent infections
- Skin rash
- Anti-BP180 antibody positivity
- Anti-BP230 antibody positivity
- Anti-complement component C1q antibody positivity
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- Anti-ribosome Po antibody positivity
- Anti-titin antibody positivity
- Antineutrophil antibody positivity
- Autoimmune antibody positivity
- Decreased circulating complement C3 concentration
- Decreased circulating complement C4 concentration
- Erythema nodosum
- Increased circulating interleukin 6 concentration
- Malar rash
- Psoriasiform dermatitis
- Anti-dsDNA antibody positivity
- Anti-La/SS-B antibody positivity
- Anti-nucleoporin 62 antibody positivity
- Anti-phosphatidic acid antibody positivity
- Anti-Ro52/TRIM21 antibody positivity
- Anti-Sm antibody positivity
- Anti-U1 ribonucleoprotein antibody positivity
- Discoid lupus rash
- Maculopapular exanthema
- Meningitis
- Non-infectious meningitis
- Serositis
Abnormality of head or neck
- Abnormal eyelashes
- Abnormality of the eyebrow
- Chewing difficulties
- Sparse scalp hair
- Conjunctival hyperemia
- Decreased salivary flow
- Dental cavities
- Drooling
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- Nuchal rigidity
- Abnormal color of the oral mucosa
- Abnormal conjunctiva morphology
- Abnormality of mucosa of nose
- Abnormality of salivation
- Bell's palsy
- Dacryocystitis
- Dry eye syndrome
- Enlarged tear gland
- Enlargement of parotid gland
- Inflammation of the lips
- Inflammation of the tongue
- Mouth sore
- Oral mucosal blisters
- Parotitis
- Recurrent sore throat
- Scalp tenderness
- Abnormality of the salivary glands
Abnormality of the respiratory system
- Breathing difficulty
- Intraalveolar phospholipid accumulation
- Lung infiltrates
- Abnormal pleura morphology
- Abnormality of lung structure
- Abnormality of the upper respiratory tract
- Cough
- Decreased DLCO
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- Low blood oxygen level
- Pulmonary scarring
- Stiff lung or chest wall causing decreased lung volume
- Collapsed lung
- Crackles
- Crazy paving pattern
- Dry cough
- Emphysema
- Permanent enlargement of the airways of the lungs
- Upper airway obstruction
- Coughing up blood
- Mediastinal mass
- Abnormality in area between air sacs in lung
- Elevated bronchoalveolar lavage fluid lymphocyte proportion
Laboratory abnormality
- Diabetes mellitus
- Elevated circulating C-reactive protein concentration
- Fever
- High ESR
- High urine protein levels
- Joint swelling
- Blood in urine
- Blood protein disease
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- Elevated circulating alpha-globulin concentration
- Elevated circulating calprotectin concentration
- Elevated circulating osteopontin concentration
- Fluid around lungs
- High urine neutrophil count
- Increased circulating lactate dehydrogenase concentration
- Chylothorax
- Elevated serum ferritin
- Elevated urine calcium levels
- High blood calcium levels
- Increased CSF protein concentration
- Swelling caused by excess lymph fluid under skin
- Hypothermia
Abnormality of the digestive system
- Acid reflux
- Anorexia
- Constipation
- Decreased liver function
- Malabsorption
- Nausea and vomiting
- Poor swallowing
- Abdominal pain
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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.). HLA-DRB1-genet: major histocompatibility complex, class II, DR beta 1. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/hla-drb1
Dante Labs. HLA-DRB1-genet: major histocompatibility complex, class II, DR beta 1 [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/hla-drb1
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger