유전자
FLNB
filamin B
요약
- 세포유전학적 위치
- 3p14.3
- 좌표
- 염색체 3: 58,008,422–58,172,251 (GRCh38)
- 엑손
- 엑손 46개, 163.8 kb에 걸쳐
- 단백질
- 아미노산 2,602개
- 다른 이름
- TAP, TABP, ABP-278, FH1
- 이전 기호
- FLN1L, LRS1
- MANE Select 전사체
- ENST00000295956.9NM_001457.4
- 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 FLNB yet. The test sequences your whole genome, so your data includes it all the same.
FLNB의 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 163.8 kb 중 엑손이 9.4 kb를 차지하며, 이 중 7,809개의 염기가 단백질을 암호화합니다.
전장 유전체 검사가 FLNB 유전자를 읽는 방법
53
FLNB 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 FLNB의 전체 163.8kb를 모두 포함하며, 엑손 9.4kb만 보는 것이 아닙니다.
Traits linked to FLNB
The Human Phenotype Ontology lists these as features of the rare conditions FLNB can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Absent calf bone
- Elbow dislocation
- Knee dislocation
- Limb undergrowth
- Short finger
- Talipes
- Abnormality of the shankbone
- Absent/small calf bone
Show 58 more traits
- Broad outermost finger bone
- Broad thumb
- Hip dislocation
- Short fingers or toes
- Short outermost finger bone
- Smaller or shorter than typical limbs
- Spoon shaped thumbs
- Abnormal humerus morphology
- Abnormal maturation of thigh bone head and neck
- Abnormal morphology of the radius
- Abnormal shape of long bones of hand
- Abnormality of the calf bone
- Abnormality of the thighbone
- Club feet
- Dislocated kneecap
- Disproportionately short upper portion of limb
- Extra wrist bones
- Finger syndactyly
- Fused ankle bones
- Fused wrist bones
- Short thighbone
- Short tubular bones of the hand
- Tapering of outermost end of thighbone
- Abnormal morphology of ulna
- Absent long bone in upper arm
- Club-shaped outermost end of thighbone
- Delayed maturation of wrist bone
- Dropped arches
- Epiphyseal stippling of the humerus
- Hand clenching
- Missing outer large bone of forearm
- Short shinbone
- Tapered long bone of upper arm
- Ulnar deviation of the wrist
- Absence/underdevelopment of inner forearm bone
- Bipartite calcaneus
- Bowed long bone in upper arm
- Bowed shankbone
- Bowing of outer large bone of the forearm
- Capitate-hamate fusion
- Club-shaped innermost end of thighbone
- Clubbing of fingers and toes
- Coxa vara
- Curvature of little finger
- Delayed toe phalanx ossification
- Dislocated wrist
- Flat acetabular roof
- Gap between 1st and 2nd toes
- Hitchhiker thumb
- Limited elbow extension
- Multiple carpal ossification centers
- Short humerus
- Short long bone of foot
- Shortened long bone of hand
- Talipes equinovalgus
- Tombstone-shaped innermost digital bones
- Widened outermost bone of limb
- Winged shoulder blade
Abnormality of the musculoskeletal system
- Bell-shaped thorax
- Coronal cleft vertebrae
- Long collarbone
- Small chest
- Underdeveloped vertebrae
- Abnormal bone maturation
- Abnormal bone maturation of vertebra
- Double-Jointed
Show 39 more traits
- Large joint dislocations
- Narrow chest
- Poorly ossified vertebrae
- Absent or minimally ossified vertebral bodies
- Excessive inward curvature of lower spine
- Intervertebral space narrowing
- Pigeon chest
- Scoliosis
- Vertebral fusion
- Abnormal cervical spine
- Abnormal neck curve
- Abnormal shape of end part of bone
- Delayed bone maturation
- Flattened vertebrae
- Joint dislocation
- Neonatal short-trunk short stature
- Short long bone
- Thoracolumbar kyphosis
- Vertebral segmentation defect
- 11 pairs of ribs
- Abnormal development of end part of bone
- Abnormal shape of pelvic girdle bone
- Ankle dislocation
- Beaking of vertebral bodies
- Block vertebrae
- C2-C3 subluxation
- Cervical segmentation defect
- Disproportionate short-trunked short stature
- Funnel chest
- Fused neck
- Horizontal sacrum
- Hypoplasia of the odontoid process
- Hypoplastic cervical vertebrae
- Hypoplastic iliac body
- Multinucleated giant chondrocytes in epiphyseal cartilage
- Prominent swayback
- Rounded neck
- Spondylolysis
- Thoracic platyspondyly
Abnormality of head or neck
- Depressed nasal bridge
- Little lower jaw
- Flat face
- Midface retrusion
- Prominent forehead
- Zygomatic flattening
- Thin dental enamel
- Cleft palate
Show 23 more traits
- Corners of eye widely separated
- Deformity of the skull
- Enlarged cisterna magna
- Frontal bossing
- High palate
- Short neck
- Broad face
- Broad nasal tip
- Cleft upper lip
- Decreased depth of eye sockets
- Decreased size of maxilla
- Decreased size of nasal septum
- Encephalocele
- Failure of development of between one and six teeth
- Flattening of the skull base
- Little foramen magnum
- Nasal tip, upturned
- Prominent back of the head
- Short nose
- Skin tag in front of the ear
- Underdeveloped tissue around nostril
- Unerupted adult teeth
- Wide nasal bridge
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.). FLNB gene: filamin B. Retrieved 2026년 10월 17일, from https://dantelabs.com/ko/genes/flnb
Dante Labs. FLNB gene: filamin B [Internet]. [cited 2026년 10월 17일]. Available from: https://dantelabs.com/ko/genes/flnb
검사 한 번으로, 평생의 답을.
$449부터배송비 무료 · 결과는 6~8주 내 제공