Gen
FLNB
filamin B
- HGNC 3755(åbnes i en ny fane)
- Ensembl-gen ENSG00000136068(åbnes i en ny fane)
- NCBI Gene 2317(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 3p14.3
- Koordinater
- Kromosom 3: 58.008.422–58.172.251 (GRCh38)
- Exoner
- 46 exoner fordelt over 163,8 kb
- Protein
- 2.602 aminosyrer
- Også kendt som
- TAP, TABP, ABP-278, FH1
- Tidligere symboler
- FLN1L, LRS1
- MANE Select-transkript
- ENST00000295956.9NM_001457.4
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Ingen Genome Test-rapport læser FLNB endnu. Testen sekventerer hele dit genom, så dine data omfatter det alligevel.
Sådan er FLNB opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 9,4 kb af genets 163,8 kb; 7.809 af disse baser koder for proteinet.
Sådan læser en genomtest FLNB
53
positioner i FLNB, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 163,8 kb af FLNB, inklusive introner, og ikke kun de 9,4 kb eksoner.
Træk knyttet til FLNB
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, FLNB kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
Abnormality of limbs
- Absent calf bone
- Elbow dislocation
- Knee dislocation
- Limb undergrowth
- Short finger
- Talipes
- Abnormality of the shankbone
- Absent/small calf bone
Vis 58 træk mere
- 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
Vis 39 træk mere
- 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
Vis 23 træk mere
- 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
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). FLNB-genet: filamin B. Hentet 16. oktober 2026, fra https://dantelabs.com/da/genes/flnb
Dante Labs. FLNB-genet: filamin B [Internet]. [citeret 16. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/flnb
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Fra 449 $Gratis forsendelse · Resultater på 6–8 uger