유전자
POLR1A
RNA polymerase I subunit A
요약
- 세포유전학적 위치
- 2p11.2
- 좌표
- 염색체 2: 86,020,216–86,105,886 (GRCh38)
- 엑손
- 엑손 34개, 85.7 kb에 걸쳐
- 단백질
- 아미노산 1,720개
- 다른 이름
- DKFZP586M0122, FLJ21915, RPO1-4, RPA1, RPA190
- MANE Select 전사체
- ENST00000263857.11NM_015425.6
- 유전자좌 유형
- gene with protein product
- Very high
- Confident
- Low
- Very low
기준 게놈GRCh38hg38
유전자 및 변이 페이지의 위치 정보는 이 브라우저에서 선택한 설정을 따릅니다.
이 유전자와 관련된 큐레이션 보고서
No Genome Test report reads POLR1A yet. The test sequences your whole genome, so your data includes it all the same.
POLR1A의 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 85.7 kb 중 엑손이 12.5 kb를 차지하며, 이 중 5,163개의 염기가 단백질을 암호화합니다.
전장 유전체 검사가 POLR1A 유전자를 읽는 방법
5
POLR1A 내 위치 중 ClinVar가 병원성 또는 가능성 높은 병원성으로 분류하는 위치
이 중 어느 곳도 짧은 리드가 판독하기 어려운 구간에 있지 않습니다.
전장 유전체 검사는 인트론을 포함해 POLR1A의 전체 85.7kb를 모두 포함하며, 엑손 12.5kb만 보는 것이 아닙니다.
Traits linked to POLR1A
The Human Phenotype Ontology lists these as features of the rare conditions POLR1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Aqueductal stenosis
- Babinski sign
- Cavum septum pellucidum
- CNS hypomyelination
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed ability to walk
- Dystonia
Show 27 more traits
- Epilepsy
- Epileptic encephalopathy
- Fluid-filled cyst in spinal cord
- Global developmental delay
- Inability to move vocal cords
- Increased reflexes
- Instability or lack of coordination of central trunk muscles
- Intellectual disability
- Jerking
- Laryngeal dystonia
- Leukodystrophy
- Loss of ability to walk
- Mild global developmental delay
- Motor delay
- Sudden loss of muscle tone
- Thin corpus callosum
- Too much cerebrospinal fluid in the brain
- Absent speech development
- Brain imaging abnormality
- Head titubation
- Loss of developmental milestones
- Ventriculomegaly
- Abnormality of coordination
- Atrophy/Degeneration affecting the brainstem
- Inability to coordinate movements when walking
- Infantile spasms
- Irritability
Abnormality of head or neck
- Bilateral blockage of the rear opening of the nasal cavity
- Broad forehead
- Broad opening between the eyelids
- Cranial defect
- Dandy-Walker malformation
- Depressed nasal bridge
- Eye folds
- High palate
Show 26 more traits
- Median pseudocleft lip
- Nasal tip, upturned
- Short nose
- Thick eyebrow
- Upward slanting of the opening between the eyelids
- Short opening between the eyelids
- Abnormally small head
- Absent eyelids
- Aplastic zygomatic arch
- Blockage of the rear opening of the nasal cavity
- Cleft lower eyelid
- Cleft palate
- Cleft upper eyelid
- Decreased size of maxilla
- Downward slanting of the opening between the eyelids
- Little lower jaw
- Midface retrusion
- Prominent nasal bridge
- Receding chin
- Relatively large head
- Abnormality of the palate
- Cleft lip
- Facial asymmetry
- Failure of development of between one and six teeth
- Metopic synostosis
- Wide nasal bridge
Abnormality of the cardiovascular system
- Anomalous origin of right coronary artery from the pulmonary artery
- Aortic valve has two leaflets rather than three
- Biventricular hypertrophy
- Bulge in wall of large artery that carries blood away from heart
- Cleft anterior mitral valve leaflet
- Narrowing of lung artery
- Partial atrioventricular canal defect
- Pulmonary artery aneurysm
Abnormality of the eye
- Deeply set eye
- Duane anomaly
- Wide-set eyes
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Supranuclear gaze palsy
- Abnormality of the eye
- Abnormality of vision
Show 3 more traits
Abnormality of the musculoskeletal system
- Diaphragmatic eventration
- Double-Jointed
- Involuntary muscle stiffness, contraction, or spasm
- Lower limb spasticity
- Poor head control
- Scoliosis
- Spasticity and rigidity of muscles
- Low muscle tone
Show 1 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 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). POLR1A gene: RNA polymerase I subunit A. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/polr1a
Dante Labs. POLR1A gene: RNA polymerase I subunit A [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/polr1a
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