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Gen
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- HGNC 8975↗(öffnet sich in einem neuen Tab)
- Ensembl-Gen ENSG00000121879↗(öffnet sich in einem neuen Tab)
- NCBI Gene 5290↗(öffnet sich in einem neuen Tab)
Zusammenfassung
- Zytogenetische Lage
- 3q26.32
- Koordinaten
- Chromosom 3: 179.148.357–179.240.093 (GRCh38)
- Exons
- 21 Exons über 91,7 kb
- Protein
- 1.068 Aminosäuren
- Auch bekannt als
- PI3K
- MANE-Select-Transkript
- ENST00000263967.4NM_006218.4
- Locus-Typ
- Protein-coding
- Sehr hoch
- Zuversichtlich
- Niedrig
- Sehr niedrig
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Diese Seite als Daten
Hängen Sie .json an die Adresse der Seite an oder fordern Sie application/json an, um sie als JSON zu lesen.
library(jsonlite)
url <- "https://dantelabs.com/genes/pik3ca.json"
page <- fromJSON(url)
page$gene$namePIK3CA3q26.32
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Werten Sie PIK3CA und den Rest Ihres Genoms mit einem einzigen Test aus.
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Meinen Genome Test bestellenKuratierte Berichte zu diesem Gen
Kein Genome Test-Bericht wertet PIK3CA bisher aus. Der Test sequenziert Ihr gesamtes Genom, daher sind die Daten trotzdem enthalten.
Aufbau von PIK3CA
- Kodierende Sequenz
- Nicht translatierte Region
- Intron
- Transkriptionsrichtung
- Bekannte krankheitsverursachende Stellen
- Abschnitte, die Short Reads schwer erfassen
Exons des MANE-Select-Transkripts des Gens (Version v1.5) von NCBI und EMBL-EBI, bezogen auf das Referenzgenom GRCh38.
Chromosomenbanden aus dem UCSC-Ideogramm GRCh38 (2022-10-29).
Benachbarte Gene aus Ensembl-Version 116 auf GRCh38.
Exons machen 9,3 kb der 91,7 kb des Gens aus; 3.207 dieser Basen kodieren für das Protein.
Sequenzierung von PIK3CA
73
Positionen in PIK3CA, an denen ClinVar eine Veränderung als pathogen oder wahrscheinlich pathogen einstuft
11 davon (15 %) liegen in Bereichen, die Short Reads nur schwer erfassen.
- Low mappabilityRegions where 100 bp or 250 bp reads cannot be placed uniquely. (11 Stellen)
- Segmental duplicationsCopies 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. (11 Stellen)
Ein Whole Genome erfasst alle 91,7 kb von PIK3CA, einschließlich der Introns, nicht nur die 9,3 kb Exons.
Mit PIK3CA verknüpfte Merkmale
Die Human Phenotype Ontology führt diese als Merkmale der seltenen Erkrankungen auf, die PIK3CA verursachen kann. Auf der Seite jedes Merkmals sind die anderen Gene aufgeführt, die damit in Verbindung stehen.
Abnormality of the nervous system
- Epilepsy
- Glioblastoma multiforme
- Headache
- Hyperintensity of cerebral white matter on MRI
- Interictal EEG abnormality
- Intracranial meningioma
- Abnormal brain FDG positron emission tomography
- Abnormal shape of nervous system
84 weitere Merkmale anzeigen
- Absent/small cerebellum
- Anxiety
- Attention deficit
- Behavioral abnormality
- Depression
- EEG with burst suppression
- EEG with focal sharp slow waves
- EEG with focal spikes
- EEG with polyspike wave complexes
- Focal cortical dysplasia
- Focal motor seizure
- Focal T2 hyperintense brainstem lesion
- Focal T2 hypointense brainstem lesion
- Focal T2 hypointense thalamic lesion
- Global developmental delay
- Hemihypsarrhythmia
- Hemimegalencephaly
- Intellectual disability
- Irritability
- Migraine
- More grooves in brain
- Nerve tumor
- Numbness
- Pins and needles feeling
- Rise in pressure inside skull
- Seizure affecting one half of brain
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Abnormal central motor function
- Abnormal central sensory function
- Abnormal gait
- Abnormal neuron shape
- Abnormal pyramidal sign
- Abnormal social behavior
- Abnormal speech pattern
- Abnormality of the cerebellum
- Aplasia/Hypoplasia of the corpus callosum
- Ataxia
- Benign neoplasm of the central nervous system
- Cancer of early nerve cells
- Chiari malformation
- Cognitive impairment
- Cranial nerve paralysis
- Difficulty articulating speech
- Difficulty sleeping
- Disorder of involuntary muscle movements
- Disturbed sensory perception
- Dysgraphia
- Epileptic spasm
- Fewer and broader ridges in brain
- Focal tonic seizure
- Gliosis
- Gray matter heterotopia
- Hallucinations
- Intellectual disability, mild
- Intellectual disability, severe
- Jerking
- Loss of developmental milestones
- Memory impairment
- Meningocele
- Multiple mucosal neuromas
- Myelomeningocele
- Paralysis or weakness of one side of body
- Pauses in breathing while sleeping
- Repeated seizures without recovery between them
- Spinal cord lesion
- Spinal dysraphism
- Spinal meningioma
- Split spine
- Sudden loss of muscle tone
- Tethered cord
- Trigeminal neuralgia
- Weakness of one side of body
- Astrocytoma
- Brain stem compression
- Can't control feelings
- Excessive daytime sleepiness
- Ganglioneuroma
- Noncancerous growth of membranes covering brain
- Spasms on one side of the face
- Transient global amnesia
- Cavum septum pellucidum
- Enlarged brain
- Intention tremor
Abnormality of head or neck
- Capillary malformation of the lip
- Dimple chin
- Enlargement of half of face
- Facial asymmetry
- Adenoma sebaceum
- Big calvaria
- Narrow eyelid opening
- Wide mouth
34 weitere Merkmale anzeigen
- Abnormality of head shape
- Abnormality of the skull
- Abnormally large tongue
- Big lower jaw
- Big maxilla
- Deviated nasal septum
- Early eruption of teeth
- Enlargement of parotid gland
- Frontal bossing
- Full cheeks
- High forehead
- Prominence of cheekbone
- Abnormality of the sense of smell
- Abnormally small head
- Absence of adult teeth
- Adhesion of the temporomandibular joint
- Bad bite
- Bell's palsy
- Cancer of salivary gland
- Depressed nasal bridge
- Increased size of tooth
- Webbed neck
- Neoplasm of the tongue
- Broad forehead
- Decreased size of maxilla
- Downward slanting of the opening between the eyelids
- Enlargement of skull bones
- Eye folds
- Grooved tongue
- High palate
- Little lower jaw
- Narrow mouth
- Progressively abnormally enlarging cranium
- Smooth philtrum
Abnormality of the cardiovascular system
- Cerebral cavernous malformation
- Strawberry birthmark
- Venous malformation
- Arteriovenous malformation
- Lymphangioma
- Poorly functioning veins
- Strawberry mark
- Telangiectasia of the skin
27 weitere Merkmale anzeigen
- Visceral angiomatosis
- Abnormal lymphatic vessel morphology
- Abnormality of the cerebral blood vessels
- Blood clot in artery of lung
- Collection of dilated blood vessels that forms mass
- Cutis marmorata
- Enlarged tonsils
- Varicose veins
- Vascular skin abnormality
- Abnormal cardiovascular system morphology
- Abnormal heart rate
- Abnormal tricuspid valve morphology
- Abnormal vein
- Abnormality of lung artery
- Abnormality of the lymphatic system
- An opening in the wall separating the top two chambers of the heart
- Cardiac diverticulum
- Cardiac failure
- Choroidal hemangioma
- Disruption of blood oxygen supply to brain
- Increased spleen size
- Patent ductus arteriosus
- Peripheral arteriovenous fistula
- Retinal cavernous hemangioma
- Fainting spell
- Abnormality of the cardiovascular system
- Hole in heart wall separating two lower heart chambers
Abnormality of the endocrine system
- Decreased circulating ACTH concentration
- Decreased circulating follicle stimulating hormone concentration
- Decreased circulating luteinizing hormone level
- Decreased serum estradiol
- Decreased serum testosterone level
- Hypogonadotropic hypogonadism
- Increased circulating prolactin concentration
- Low blood cortisol level
16 weitere Merkmale anzeigen
- Low thyroid gland function due to abnormal pituitary gland
- Secondary growth hormone deficiency
- Abnormal hypothalamus physiology
- Enlarged pituitary gland
- Hypothalamic hypothyroidism
- Neoplasm of the anterior pituitary
- Neoplasm of the thyroid gland
- Noncancerous tumor in pituitary gland
- Reduced circulating prolactin concentration
- Adrenal calcification
- Neoplasm of the posterior pituitary
- Enlarged thyroid gland in neck
- Overactive thyroid
- Thyroid adenoma
- Thyroid gland inflammation
- Underactive thyroid
Abnormality of the genitourinary system
- Abnormal absence of menstruation
- Difficulty getting a full erection
- Small kidneys
- Abnormality of the menstrual cycle
- Absent/small kidney
- Cystic kidney disease
- Endometrial carcinoma
- Enlarged kidney
16 weitere Merkmale anzeigen
- Epididymal cyst
- Hydrocele testis
- Kidney cancer
- Malignant genitourinary tract tumor
- Nephroblastoma
- Ovarian cancer
- Ovarian serous cystadenoma
- Testicular lipomatosis
- Urinary tract neoplasm
- Loss of bladder control
- Cancer starting in small tubes in kidneys
- Dysgerminoma
- Ovarian cyst
- Ovarian papillary adenocarcinoma
- Transitional cell carcinoma of the bladder
- Uterine leiomyosarcoma
Abnormality of limbs
- Asymmetric overgrowth
- Finger overgrowth
- Left and right leg differ in length or width
- Duplication of bones of the toes
- Extra finger
- Finger syndactyly
- Fused toes
- Unequal size of arms
14 weitere Merkmale anzeigen
- Broad palm
- Bulbous tips of toes
- Gap between 1st and 2nd toes
- Overgrowth of one arm
- Overgrowth of one leg
- Ulnar deviation of the hand
- Cutaneous syndactyly
- Decreased arm strength
- Dislocated kneecap
- Lower limb muscle weakness
- More than five fingers or toes on hands or feet
- Webbed 2nd-4th toes
- Thickening of the outer layer of the skin of the palms and soles
- Webbed fingers or toes
Abnormality of the eye
- Drooping upper eyelid
- Bitemporal hemianopia
- Abnormal kinetic perimetry test
- Amaurosis fugax
- Deeply set eye
- Eye muscle paralysis
- Hemianopia
- Oculomotor nerve palsy
14 weitere Merkmale anzeigen
Abnormality of the digestive system
- Abdominal pain
- Constipation
- Malabsorption
- Colon cancer
- Nausea and vomiting
- Rectal tumor
- Stomach tumor
- Accumulation of fluid in the abdomen
13 weitere Merkmale anzeigen
- Cancer of the pancreas
- Enlarged liver
- Episodic vomiting
- Growths in inner lining of intestine
- Hepatocellular carcinoma
- Liver cancer
- Pancreatic adenocarcinoma
- Colonic diverticula
- Hamartomatous polyposis
- Hereditary nonpolyposis colorectal carcinoma
- Micronodular cirrhosis
- Stomach cancer
- Subacute progressive viral hepatitis
Abnormality of blood and blood-forming tissues
- Bleeding in brain
- Gastrointestinal bleeding
- Blood clot in vein
- Abnormal blood clot
- Blood tumor
- Hypercoagulability
- Internal bleeding
- Microcytic anemia
2 weitere Merkmale anzeigen
Externe Links
Gendatensätze
Transkript
Protein
Woher diese Angaben stammen
- HGNC: das Symbol des Gens, sein Name, weitere Symbole und seine Lage.
- MANE Select v1.5, von NCBI und EMBL-EBI: das Transkript, seine Exons und die kodierende Sequenz.
- ClinVar und die GIAB-Stratifizierungen: bekannte krankheitsverursachende Stellen sowie Regionen, die Kurzlesesequenzierung schwer erfassen kann.
- Human Phenotype Ontology, Version 2026-09-01: die mit dem Gen verknüpften Merkmale. Weitere Informationen unter hpo.jax.org.
- Datenversion 2026.10.16-c6eea6bf.
Diese Seite zitieren
Dante Labs. (o. J.). PIK3CA-Gen: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha. Abgerufen am 17. Oktober 2026, von https://dantelabs.com/de/genes/pik3ca
Dante Labs. PIK3CA-Gen: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Internet]. [zitiert am 17. Oktober 2026]. Verfügbar unter: https://dantelabs.com/de/genes/pik3ca
AtlasFür wen wir da sindUnsere WissenschaftProdukteErgebnisse
AnmeldenFragenIhr Genom sequenzieren↗
Ein Test. Antworten für ein ganzes Leben.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen