유전자
ELFN1
extracellular leucine rich repeat and fibronectin type III domain containing 1
요약
- 세포유전학적 위치
- 7p22.3
- 좌표
- 염색체 7: 1,670,277–1,747,946 (GRCh38)
- 엑손
- 엑손 4개, 77.7 kb에 걸쳐
- 단백질
- 아미노산 828개
- 이전 기호
- PPP1R28
- MANE Select 전사체
- ENST00000424383.5NM_001128636.4
- 유전자좌 유형
- gene with protein product
- Very high
- Confident
- Low
- Very low
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/elfn1.json"
page <- fromJSON(url)
page$gene$name이 유전자와 관련된 큐레이션 보고서
No Genome Test report reads ELFN1 yet. The test sequences your whole genome, so your data includes it all the same.
ELFN1의 구조
- 코딩 서열
- 비번역 영역
- 인트론
- 전사 방향
- 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 77.7 kb 중 엑손이 4 kb를 차지하며, 이 중 2,487개의 염기가 단백질을 암호화합니다.
Traits linked to ELFN1
The Human Phenotype Ontology lists these as features of the rare conditions ELFN1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Axial dystonia
- Babinski sign
- Delayed CNS myelination
- Delayed speech and language development
- EEG with burst suppression
- EEG with focal slow activity
- Generalized-onset motor seizure
Show 31 more traits
- Intellectual disability, severe
- Interictal EEG abnormality
- Lack of coordination of movement
- Leg paralysis
- Mild global developmental delay
- Moderate global developmental delay
- Motor seizure
- Repetitive movements
- Self-mutilation
- Severe global developmental delay
- Delayed ability to walk
- Abnormality of balance
- Attention deficit
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with generalized onset
- Clonus
- Delayed ability to sit
- Epilepsy
- Generalized clonic seizure
- Inability to walk
- Reduced cerebral white matter volume
- Thin corpus callosum
- Tonic seizure
- Unsteady walk
- Absent reflexes
- Epileptic spasm
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Generalized-onset seizure
- Increased reflexes
- Myoclonic seizure
- Repeated seizures without recovery between them
Abnormality of head or neck
- Broad chin
- Coarse facial features
- Decreased facial muscle tone
- Depressed nasal bridge
- Drooling
- Drooping lower lip
- Eye folds
- Full lower lip
Show 19 more traits
- High frontal hairline
- Long face
- Long philtrum
- Monobrow
- Narrow forehead
- Pointed chin
- Prominent forehead
- Receding chin
- Short columella
- Short philtrum
- Small head present at birth
- Smooth philtrum
- Sparse eyebrow
- Tented mouth
- Triangular face
- Upward slanting of the opening between the eyelids
- Wide mouth
- Prominent nasal bridge
- Thin red part of the upper lip
Abnormality of the musculoskeletal system
- Double-Jointed
- EMG: positive sharp waves
- Generalized decreased muscle tone
- Limb contractures
- Low muscle tone in trunk
- Poor head control
- Spastic tetraparesis
- Appendicular spasticity
Show 3 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.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). ELFN1 gene: extracellular leucine rich repeat and fibronectin type III domain containing 1. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/elfn1
Dante Labs. ELFN1 gene: extracellular leucine rich repeat and fibronectin type III domain containing 1 [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/elfn1
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