Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
유전자
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
요약
- 세포유전학적 위치
- 3q26.32
- 좌표
- 염색체 3: 179,148,357–179,240,093 (GRCh38)
- 엑손
- 엑손 21개, 91.7 kb에 걸쳐
- 단백질
- 아미노산 1,068개
- 다른 이름
- PI3K
- MANE Select 전사체
- ENST00000263967.4NM_006218.4
- 유전자좌 유형
- Protein-coding
- Very high
- Confident
- Low
- Very low
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/genes/pik3ca.json"
page <- fromJSON(url)
page$gene$namePIK3CA3q26.32
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
이 유전자와 관련된 큐레이션 보고서
No Genome Test report reads PIK3CA yet. The test sequences your whole genome, so your data includes it all the same.
PIK3CA의 구조
- 코딩 서열
- 비번역 영역
- 인트론
- 전사 방향
- 알려진 질병 유발 부위
- 짧은 리드가 판독하기 어려운 구간
v1.5 릴리스 기준, 이 유전자의 MANE Select 전사체 엑손이며 NCBI와 EMBL-EBI 자료를 바탕으로 하고 GRCh38 참조 게놈에 기반합니다.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
유전자 전체 91.7 kb 중 엑손이 9.3 kb를 차지하며, 이 중 3,207개의 염기가 단백질을 암호화합니다.
전장 유전체 검사가 PIK3CA 유전자를 읽는 방법
73
PIK3CA 내 위치 중 ClinVar가 병원성 또는 가능성 높은 병원성으로 분류하는 위치
이 중 11곳(15%)은 짧은 리드가 판독하기 어려운 구간에 있습니다.
- Low mappabilityRegions where 100 bp or 250 bp reads cannot be placed uniquely. (11곳)
- 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. (11곳)
전장 유전체 검사는 인트론을 포함해 PIK3CA의 전체 91.7kb를 모두 포함하며, 엑손 9.3kb만 보는 것이 아닙니다.
Traits linked to PIK3CA
The Human Phenotype Ontology lists these as features of the rare conditions PIK3CA can cause. Each trait's page lists the other genes linked to it.
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
Show 84 more traits
- 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
Show 34 more traits
- 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
Show 27 more traits
- 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
Show 16 more traits
- 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
Show 16 more traits
- 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
Show 14 more traits
- 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 digestive system
- Abdominal pain
- Constipation
- Malabsorption
- Colon cancer
- Nausea and vomiting
- Rectal tumor
- Stomach tumor
- Accumulation of fluid in the abdomen
Show 13 more traits
- 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
Show 2 more traits
외부 링크
단백질
이 정보의 출처
- HGNC: 유전자의 기호, 명칭, 다른 기호 및 위치입니다.
- NCBI와 EMBL-EBI의 MANE Select v1.5: 전사체, 엑손 및 코딩 서열입니다.
- ClinVar와 GIAB 층화 자료: 알려진 질병 유발 부위와 짧은 리드(short read)로 분석하기 어려운 영역입니다.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- 데이터 릴리스 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). PIK3CA gene: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/pik3ca
Dante Labs. PIK3CA gene: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/pik3ca
Atlas이런 분들을 위해과학적 근거제품연구 성과
로그인질문하기유전체를 시퀀싱하세요↗
검사 한 번으로, 평생의 답을.
$449부터배송비 무료 · 결과는 6~8주 내 제공