ELN (elastin) - Rat Genome Database

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Gene: ELN (elastin) Homo sapiens
Analyze
Symbol: ELN
Name: elastin
RGD ID: 736469
HGNC Page HGNC:3327
Description: Predicted to be an extracellular matrix structural constituent. Involved in outflow tract morphogenesis. Located in elastic fiber. Implicated in several diseases, including Williams-Beuren syndrome; aortic disease (multiple); autoimmune disease (multiple); cutis laxa (multiple); and retinal disease (multiple). Biomarker of several diseases, including Buschke-Ollendorff syndrome; Williams-Beuren syndrome; eye disease (multiple); photosensitivity disease; and pseudoxanthoma elasticum.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADCL1; elastin (supravalvular aortic stenosis, Williams-Beuren syndrome); FLJ38671; FLJ43523; SVAS; tropoelastin; WBS; WS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,028,173 - 74,069,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl774,027,789 - 74,069,907 (+)EnsemblGRCh38hg38GRCh38
GRCh37773,442,503 - 73,484,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,080,363 - 73,122,173 (+)NCBINCBI36Build 36hg18NCBI36
Build 34772,887,168 - 72,927,681NCBI
Celera768,923,491 - 68,963,674 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef769,326,571 - 69,367,012 (+)NCBIHuRef
CHM1_1773,587,503 - 73,629,630 (+)NCBICHM1_1
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (IAGP,ISO)
Anetoderma  (IEP)
aortic aneurysm  (IDA)
aortic valve disease  (ISS)
aortic valve stenosis  (IAGP)
atrioventricular septal defect  (IAGP)
autism spectrum disorder  (IAGP)
autistic disorder  (IAGP)
autosomal dominant cutis laxa  (EXP,IAGP)
autosomal dominant cutis laxa 1  (IAGP)
autosomal recessive polycystic kidney disease  (ISO)
bladder neck obstruction  (ISO)
Buschke-Ollendorff syndrome  (IEP)
chronic obstructive pulmonary disease  (EXP,IAGP)
congenital diaphragmatic hernia  (ISO)
cutis laxa  (EXP,IAGP,IDA)
dermatitis herpetiformis  (IDA)
diabetic retinopathy  (IDA)
Diaphragmatic Hernia  (EXP)
essential hypertension  (ISS)
exfoliation syndrome  (IEP)
Experimental Diabetes Mellitus  (ISO)
facioscapulohumeral muscular dystrophy  (EXP)
gastrointestinal carcinoma  (IAGP)
genetic disease  (IAGP)
Hypertelorism  (IAGP)
hypertension  (EXP)
inguinal hernia  (IAGP)
intestinal volvulus  (IAGP)
intracranial aneurysm  (TAS)
Kawasaki disease  (ISO)
Kuhnt-Junius degeneration  (IAGP)
Lichen Sclerosus et Atrophicus  (IEP)
liver cirrhosis  (ISO)
macular degeneration  (IEP)
melanoma  (IEP)
Myocardial Ischemia  (EXP)
Neurodevelopmental Disorders  (IAGP)
photosensitivity disease  (IEP)
pleomorphic xanthoastrocytoma  (IAGP)
polyarteritis nodosa  (IDA)
polymyositis  (IDA)
Polypoidal Choroidal Vasculopathy  (IAGP)
primary open angle glaucoma  (IEP)
pseudoxanthoma elasticum  (IDA,IEP)
psoriasis  (IEP)
pterygium  (IEP)
pulmonary emphysema  (EXP)
pulmonary fibrosis  (EXP)
rheumatoid arthritis  (IDA)
schizophrenia  (IAGP)
sickle cell anemia  (IAGP)
silicosis  (ISO)
Stroke  (IAGP)
Sunburn  (IEP)
Supravalvar Aortic Stenosis, Eisenberg Type  (IAGP)
supravalvular aortic stenosis  (EXP,IAGP)
systemic lupus erythematosus  (IDA)
systemic scleroderma  (IDA)
temporal arteritis  (IDA)
thoracic aortic aneurysm  (IAGP)
thromboangiitis obliterans  (IEP)
Urinary Incontinence, Stress  (ISO)
varicose veins  (IAGP)
Volvulus Of Midgut  (IAGP)
Williams-Beuren syndrome  (EXP,IAGP,IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
benzo[a]pyrene  (EXP)
beta-aminopropionitrile  (ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
C60 fullerene  (ISO)
calcitriol  (EXP)
capsaicin  (ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
choline  (ISO)
clothianidin  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
cycloheximide  (ISO)
D-penicillamine  (EXP)
dexamethasone  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
enilconazole  (ISO)
fenamidone  (ISO)
flurbiprofen  (ISO)
folic acid  (ISO)
furan  (ISO)
griseofulvin  (ISO)
hydralazine  (ISO)
hydrogen sulfide  (ISO)
isoprenaline  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
losartan  (ISO)
mifepristone  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
nickel atom  (EXP,ISO)
nickel sulfate  (ISO)
nitrofen  (ISO)
nitroglycerin  (ISO)
okadaic acid  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phorbol 13-acetate 12-myristate  (ISO)
radicicol  (EXP)
rotenone  (ISO)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
serpentine asbestos  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
tetrachloromethane  (ISO)
tetrathiomolybdate(2-)  (ISO)
thiacloprid  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
Trapidil  (ISO)
tremolite asbestos  (ISO)
triclosan  (EXP)
triptonide  (ISO)
Y-27632  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abdominal pain  (IAGP)
Abnormal carotid artery morphology  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal dermatoglyphics  (IAGP)
Abnormal digit morphology  (IAGP)
Abnormal endocardium morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal gastric mucosa morphology  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormal tubulointerstitial morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of the ankles  (IAGP)
Abnormality of the diencephalon  (IAGP)
Abnormality of the face  (IAGP)
Adducted thumb  (IAGP)
Amblyopia  (IAGP)
Anxiety  (IAGP)
Aortic aneurysm  (IAGP)
Aortic arch aneurysm  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Arachnodactyly  (IAGP)
Arrhythmia  (IAGP)
Arterial stenosis  (IAGP)
Arthralgia  (IAGP)
Ascending aortic dissection  (IAGP)
Atrial septal defect  (IAGP)
Atrioventricular canal defect  (IAGP)
Atrophy/Degeneration involving the corticospinal tracts  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bladder diverticulum  (IAGP)
Blepharophimosis  (IAGP)
Blue irides  (IAGP)
Brisk reflexes  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Bronchiectasis  (IAGP)
Bronchiolitis  (IAGP)
Bruising susceptibility  (IAGP)
Cardiomegaly  (IAGP)
Carious teeth  (IAGP)
Carotid artery dilatation  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral ischemia  (IAGP)
Chest pain  (IAGP)
Chiari malformation  (IAGP)
Chiari type I malformation  (IAGP)
Cholelithiasis  (IAGP)
Chronic constipation  (IAGP)
Chronic otitis media  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Colonic diverticula  (IAGP)
Colorectal polyposis  (IAGP)
Congestive heart failure  (IAGP)
Constipation  (IAGP)
Corneal opacity  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Coronary artery stenosis  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Cutis marmorata  (IAGP)
Death in early adulthood  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Dermal translucency  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Developmental cataract  (IAGP)
Developmental regression  (IAGP)
Diabetes mellitus  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dilatation of the sinus of Valsalva  (IAGP)
Dilatation of the ventricular cavity  (IAGP)
Down-sloping shoulders  (IAGP)
Dural ectasia  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dysmetria  (IAGP)
Dysphonia  (IAGP)
Early onset of sexual maturation  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elfin facies  (IAGP)
Emphysema  (IAGP)
Enuresis  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive in infancy  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat cornea  (IAGP)
Flexion contracture  (IAGP)
Food intolerance  (IAGP)
Fragmented elastic fibers in the dermis  (IAGP)
Full cheeks  (IAGP)
Functional abnormality of male internal genitalia  (IAGP)
Gait imbalance  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrointestinal carcinoma  (IAGP)
Generalized hypotonia  (IAGP)
Genu recurvatum  (IAGP)
Genu valgum  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Glucose intolerance  (IAGP)
Hallux valgus  (IAGP)
Hemoptysis  (IAGP)
Heterogeneous  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Hoarse voice  (IAGP)
Hyperacusis  (IAGP)
Hypercalcemia  (IAGP)
Hypercalciuria  (IAGP)
Hyperextensible skin  (IAGP)
Hyperlordosis  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypodontia  (IAGP)
Hypogonadotropic hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the zygomatic bone  (IAGP)
Hypoplastic toenails  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Hypovolemia  (IAGP)
Impaired visuospatial constructive cognition  (IAGP)
Incoordination  (IAGP)
Increased bone mineral density  (IAGP)
Increased nuchal translucency  (IAGP)
Increased number of skin folds  (IAGP)
Inguinal hernia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Ischemic stroke  (IAGP)
Joint hyperflexibility  (IAGP)
Joint laxity  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lacrimation abnormality  (IAGP)
Large earlobe  (IAGP)
Long philtrum  (IAGP)
Low levels of vitamin D  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macroglossia  (IAGP)
Macrotia  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Megalocornea  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mitral valve prolapse  (IAGP)
Motor delay  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Multiple renal cysts  (IAGP)
Myocardial infarction  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Myxomatous mitral valve degeneration  (IAGP)
Narrow face  (IAGP)
Narrow forehead  (IAGP)
Nausea and vomiting  (IAGP)
Nephrocalcinosis  (IAGP)
Nephrolithiasis  (IAGP)
Nevus flammeus  (IAGP)
Nystagmus-induced head nodding  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Obsessive-compulsive trait  (IAGP)
Open bite  (IAGP)
Open mouth  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Overfriendliness  (IAGP)
Overriding aorta  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus excavatum  (IAGP)
Pelvic kidney  (IAGP)
Peptic ulcer  (IAGP)
Periorbital edema  (IAGP)
Periorbital fullness  (IAGP)
Peripheral arterial stenosis  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Pneumothorax  (IAGP)
Pointed chin  (IAGP)
Polycystic ovaries  (IAGP)
Poor coordination  (IAGP)
Portal hypertension  (IAGP)
Posterior embryotoxon  (IAGP)
Postnatal growth retardation  (IAGP)
Precocious puberty  (IAGP)
Premature graying of hair  (IAGP)
Premature skin wrinkling  (IAGP)
Prematurely aged appearance  (IAGP)
Prenatal maternal abnormality  (IAGP)
Progeroid facial appearance  (IAGP)
Prominent forehead  (IAGP)
Prominent superficial blood vessels  (IAGP)
Proteinuria  (IAGP)
Protruding ear  (IAGP)
Psychomotor retardation  (IAGP)
Ptosis  (IAGP)
Pulmonary artery stenosis  (IAGP)
Pulmonic stenosis  (IAGP)
Pyelonephritis  (IAGP)
Radioulnar synostosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Redundant neck skin  (IAGP)
Redundant skin  (IAGP)
Renal artery stenosis  (IAGP)
Renal duplication  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renovascular hypertension  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Sleep disturbance  (IAGP)
Small bowel diverticula  (IAGP)
Small foramen magnum  (IAGP)
Small nail  (IAGP)
Soft skin  (IAGP)
Spasticity  (IAGP)
Spina bifida occulta  (IAGP)
Strabismus  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Sudden cardiac death  (IAGP)
Sudden death  (IAGP)
Supravalvular aortic stenosis  (IAGP)
Talipes calcaneovalgus  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Tetralogy of Fallot  (IAGP)
Thick lower lip vermilion  (IAGP)
Tracheoesophageal fistula  (IAGP)
Transient ischemic attack  (IAGP)
Tremor  (IAGP)
Triangular face  (IAGP)
Type II diabetes mellitus  (IAGP)
Umbilical hernia  (IAGP)
Unilateral renal agenesis  (IAGP)
Urethral stenosis  (IAGP)
Varicose veins  (IAGP)
Venous malformation  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral segmentation defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
Vocal cord paralysis  (IAGP)
Vomiting  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
Wormian bones  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Inhibition of transforming growth factor beta worsens elastin degradation in a murine model of Kawasaki disease. Alvira CM, etal., Am J Pathol. 2011 Mar;178(3):1210-20. doi: 10.1016/j.ajpath.2010.11.054.
2. Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Baccarani-Contri M, etal., Eur J Histochem. 1994;38(2):111-23.
3. Enhanced elastin and fibrillin gene expression in chronically photodamaged skin. Bernstein EF, etal., J Invest Dermatol. 1994 Aug;103(2):182-6.
4. Dermatitis herpetiformis--an autoimmune disease due to cross-reaction between dietary glutenin and dermal elastin? Bodvarsson S, etal., Scand J Immunol. 1993 Dec;38(6):546-50.
5. Elastin degradation in systemic vasculitis. Bokarewa M, etal., Pathol Biol (Paris). 1996 Apr;44(4):254-8.
6. Abnormalities of serum antielastin antibodies in connective tissue diseases. Colburn KK, etal., J Investig Med. 2003 Mar;51(2):104-9.
7. Skin elastic fibers in Williams syndrome. Dridi SM, etal., Am J Med Genet. 1999 Nov 19;87(2):134-8.
8. Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene. Ewart AK, etal., J Clin Invest. 1994 Mar;93(3):1071-7.
9. Alterations in fibrillin as well as collagens I and III and elastin occur in vulval lichen sclerosus. Farrell AM, etal., J Eur Acad Dermatol Venereol. 2001 May;15(3):212-7.
10. Relationship of tumorigenic malignant melanomas to dermal elastin: an expression of tumor/stromal interaction that may be related to prognosis. Feinmesser M, etal., Am J Dermatopathol. 2002 Apr;24(2):108-17.
11. Elastase derived elastin peptides: putative autoimmune targets in giant cell arteritis. Gillot JM, etal., J Rheumatol. 1997 Apr;24(4):677-82.
12. Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. Giro MG, etal., J Invest Dermatol. 1992 Aug;99(2):129-37.
13. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
14. Time-dependent alterations of select genes in streptozotocin-induced diabetic rat bladder. Gray MA, etal., Urology. 2008 Jun;71(6):1214-9. doi: 10.1016/j.urology.2007.11.054. Epub 2008 Feb 15.
15. Effect of mechanical ventilation on the pulmonary expression and production of elastin in nitrofen-induced diaphragmatic hernia in rats. Guarino N, etal., J Pediatr Surg. 2002 Sep;37(9):1253-7.
16. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity. Hadj-Rabia S, etal., Orphanet J Rare Dis. 2013 Feb 25;8:36. doi: 10.1186/1750-1172-8-36.
17. Ultrastructural immunocytochemical analysis of elastin in the human lamina cribrosa. Changes in elastic fibers in primary open-angle glaucoma. Hernandez MR Invest Ophthalmol Vis Sci. 1992 Sep;33(10):2891-903.
18. Serum elastin-derived peptides and anti-elastin antibody in patients with systemic sclerosis. Hong YJ, etal., J Korean Med Sci. 2012 May;27(5):484-8. doi: 10.3346/jkms.2012.27.5.484. Epub 2012 Apr 25.
19. The use of elastin immunostain improves the evaluation of melanomas associated with nevi. Kamino H, etal., J Cutan Pathol. 2009 Aug;36(8):845-52. doi: 10.1111/j.1600-0560.2008.01170.x. Epub 2008 Nov 19.
20. A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease. Kelleher CM, etal., Am J Respir Cell Mol Biol. 2005 Oct;33(4):355-62. Epub 2005 Aug 4.
21. Elastin gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Kondo N, etal., Invest Ophthalmol Vis Sci. 2008 Mar;49(3):1101-5. doi: 10.1167/iovs.07-1145.
22. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Kotzot D, etal., Eur J Pediatr. 1995 Jun;154(6):477-82.
23. Extended single nucleotide polymorphism and haplotype analysis of the elastin gene in Caucasians with intracranial aneurysms provides evidence for racially/ethnically based differences. Krex D, etal., Cerebrovasc Dis. 2004;18(2):104-10. Epub 2004 Jun 22.
24. Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians. Lima LH, etal., Ophthalmic Genet. 2011 Jun;32(2):80-2. doi: 10.3109/13816810.2010.544362. Epub 2011 Mar 10.
25. Treatment of stress urinary incontinence with adipose tissue-derived stem cells. Lin G, etal., Cytotherapy. 2010;12(1):88-95. doi: 10.3109/14653240903350265.
26. [Expressions of fibrillin-1, elastin and matrix metalloproteinase-1 and -9 in chronic actinic dermatitis in elderly patients]. Liu P, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2008 Aug;28(8):1354-7.
27. Increased elastin production in experimental granulomatous lung disease. Mariani TJ, etal., Am J Pathol. 1995 Oct;147(4):988-1000.
28. Elastin: mutational spectrum in supravalvular aortic stenosis. Metcalfe K, etal., Eur J Hum Genet. 2000 Dec;8(12):955-63.
29. Elastosis of the lamina cribrosa in pseudoexfoliation syndrome with glaucoma. Netland PA, etal., Ophthalmology. 1995 Jun;102(6):878-86.
30. Aortic stiffness is associated with vascular calcification and remodeling in a chronic kidney disease rat model. Ng K, etal., Am J Physiol Renal Physiol. 2011 Jun;300(6):F1431-6. doi: 10.1152/ajprenal.00079.2011. Epub 2011 Apr 6.
31. An association of anti-elastin IgA antibodies with development of retinopathy in diabetic children. Nicoloff G, etal., Gen Pharmacol. 2000 Aug;35(2):83-7.
32. Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. Ogata T, etal., J Vasc Surg. 2005 Jun;41(6):1036-42.
33. Anetoderma: biochemical and ultrastructural demonstration of an elastin defect in the skin of three patients. Oikarinen AI, etal., J Am Acad Dermatol. 1984 Jul;11(1):64-72.
34. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
35. Elastin accumulation is regulated at the level of degradation by macrophage metalloelastase (MMP-12) during experimental liver fibrosis. Pellicoro A, etal., Hepatology. 2012 Jun;55(6):1965-75. doi: 10.1002/hep.25567. Epub 2012 Apr 18.
36. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
37. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
38. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
39. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Rodriguez-Revenga L, etal., Arch Dermatol. 2004 Sep;140(9):1135-9.
40. Rapamycin attenuates bladder hypertrophy during long-term outlet obstruction in vivo: tissue, matrix and mechanistic insights. Schroder A, etal., J Urol. 2013 Jun;189(6):2377-84. doi: 10.1016/j.juro.2012.12.110. Epub 2013 Jan 9.
41. Elastase digestion of normal and pseudoxanthoma elasticum lesional skin elastins. Schwartz E, etal., Exp Mol Pathol. 1991 Oct;55(2):190-5.
42. Heterogeneity of elastin expression in cutis laxa fibroblast strains. Sephel GC, etal., J Invest Dermatol. 1989 Jul;93(1):147-53.
43. Serum elastin-derived peptides in age-related macular degeneration. Sivaprasad S, etal., Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3046-51.
44. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. Szabo Z, etal., J Med Genet. 2006 Mar;43(3):255-8. Epub 2005 Aug 5.
45. Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population. Tanaka K, etal., Mol Vis. 2011;17:2751-8. Epub 2011 Oct 22.
46. Autosomal dominant cutis laxa with severe lung disease: synthesis and matrix deposition of mutant tropoelastin. Urban Z, etal., J Invest Dermatol. 2005 Jun;124(6):1193-9.
47. Mechanism of abnormal elastin gene expression in the pinguecular part of pterygia. Wang IJ, etal., Am J Pathol. 2000 Oct;157(4):1269-76.
48. Elastic fibers reconstructed using adenovirus-mediated expression of tropoelastin and tested in the elastase model of abdominal aortic aneurysm in rats. Xiong J, etal., J Vasc Surg. 2008 Oct;48(4):965-73. doi: 10.1016/j.jvs.2008.04.016. Epub 2008 Jun 30.
49. Elastic tissue changes in skin following PUVA therapy. Zelickson AS, etal., J Am Acad Dermatol. 1980 Aug;3(2):186-92.
50. Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN). Zhang MC, etal., J Biol Chem. 1999 Jan 8;274(2):981-6.
Additional References at PubMed
PMID:1372742   PMID:2014796   PMID:2093478   PMID:2722804   PMID:2831431   PMID:3038460   PMID:3039501   PMID:3171221   PMID:3840328   PMID:6150137   PMID:6912069   PMID:7534784  
PMID:7693128   PMID:8096434   PMID:8125298   PMID:8541862   PMID:8689688   PMID:8761465   PMID:8812460   PMID:8947836   PMID:9215670   PMID:9215671   PMID:9580666   PMID:9607766  
PMID:9745729   PMID:9819363   PMID:10190324   PMID:10190538   PMID:10424889   PMID:10471600   PMID:10536372   PMID:10544250   PMID:10825173   PMID:10942104   PMID:11003705   PMID:11071917  
PMID:11076863   PMID:11230166   PMID:11711520   PMID:11723132   PMID:11735026   PMID:11805834   PMID:11809415   PMID:11867344   PMID:11911775   PMID:12016585   PMID:12029074   PMID:12102453  
PMID:12477932   PMID:12555228   PMID:12618961   PMID:12679320   PMID:12686141   PMID:12690215   PMID:12853948   PMID:14500713   PMID:14702039   PMID:15009703   PMID:15036271   PMID:15134831  
PMID:15233806   PMID:15297630   PMID:15342556   PMID:15489334   PMID:15489336   PMID:15537639   PMID:15550396   PMID:15654955   PMID:15681698   PMID:15698546   PMID:15721581   PMID:15748998  
PMID:15774842   PMID:15790312   PMID:15860743   PMID:15866738   PMID:15890261   PMID:15890991   PMID:15925490   PMID:15961300   PMID:16042404   PMID:16078697   PMID:16161116   PMID:16251195  
PMID:16303743   PMID:16374472   PMID:16381901   PMID:16478991   PMID:16574921   PMID:16611674   PMID:16675961   PMID:16691586   PMID:16820942   PMID:16829682   PMID:16878986   PMID:16899711  
PMID:16982955   PMID:17035250   PMID:17037986   PMID:17139263   PMID:17227755   PMID:17255108   PMID:17287949   PMID:17324935   PMID:17567153   PMID:17591890   PMID:17626896   PMID:17672902  
PMID:17693470   PMID:17724138   PMID:17727474   PMID:17872975   PMID:17912483   PMID:17929969   PMID:17999374   PMID:18155129   PMID:18307085   PMID:18348261   PMID:18376131   PMID:18441095  
PMID:18450438   PMID:18842294   PMID:19029017   PMID:19054052   PMID:19056482   PMID:19087518   PMID:19143680   PMID:19144321   PMID:19167375   PMID:19194475   PMID:19282817   PMID:19357152  
PMID:19478233   PMID:19570982   PMID:19578796   PMID:19593948   PMID:19603496   PMID:19617625   PMID:19627254   PMID:19682489   PMID:19701759   PMID:19755752   PMID:19844261   PMID:19889633  
PMID:19913121   PMID:19948975   PMID:19957551   PMID:20051886   PMID:20301427   PMID:20301756   PMID:20346360   PMID:20347403   PMID:20452482   PMID:20457133   PMID:20600892   PMID:20628086  
PMID:20673868   PMID:20694560   PMID:20844573   PMID:20847053   PMID:20877624   PMID:20884320   PMID:20926252   PMID:21080980   PMID:21276682   PMID:21309044   PMID:21321118   PMID:21368178  
PMID:21540769   PMID:21873635   PMID:21948647   PMID:21967233   PMID:21988832   PMID:22003121   PMID:22004282   PMID:22034890   PMID:22068323   PMID:22095981   PMID:22099332   PMID:22101911  
PMID:22135799   PMID:22199357   PMID:22288597   PMID:22328151   PMID:22411928   PMID:22475419   PMID:22573328   PMID:22728886   PMID:22748047   PMID:22796164   PMID:22947869   PMID:23049084  
PMID:23160093   PMID:23167938   PMID:23250738   PMID:23294012   PMID:23401415   PMID:23542855   PMID:23597635   PMID:23756406   PMID:23763354   PMID:23805173   PMID:23890452   PMID:24080131  
PMID:24106871   PMID:24121514   PMID:24148803   PMID:24232693   PMID:24293364   PMID:24339977   PMID:24550393   PMID:24758204   PMID:24932728   PMID:25037231   PMID:25183766   PMID:25275906  
PMID:25275910   PMID:25342751   PMID:25604393   PMID:25775011   PMID:25792650   PMID:25794852   PMID:25803692   PMID:25935650   PMID:26074138   PMID:26309238   PMID:26325592   PMID:26601954  
PMID:26973522   PMID:27080061   PMID:27175893   PMID:27311421   PMID:27559042   PMID:27569260   PMID:27587547   PMID:27687579   PMID:27866049   PMID:28254817   PMID:28327460   PMID:28383366  
PMID:28432057   PMID:28544621   PMID:28574231   PMID:28675934   PMID:28715234   PMID:28966236   PMID:29129841   PMID:29185160   PMID:29196110   PMID:29452851   PMID:29483232   PMID:29498185  
PMID:29501665   PMID:29946030   PMID:30021884   PMID:30228022   PMID:30249767   PMID:30257940   PMID:30371156   PMID:30467633   PMID:30704477   PMID:30944168   PMID:31102572   PMID:31119718  
PMID:31254613   PMID:31400128   PMID:31560829   PMID:31638980   PMID:32007579   PMID:32171282   PMID:32535112   PMID:32630068   PMID:32845499   PMID:32898582   PMID:33098373   PMID:33351193  
PMID:33404190   PMID:34238994   PMID:34392144   PMID:34411028   PMID:35598370   PMID:35676638   PMID:35703510  


Genomics

Comparative Map Data
ELN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38774,028,173 - 74,069,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl774,027,789 - 74,069,907 (+)EnsemblGRCh38hg38GRCh38
GRCh37773,442,503 - 73,484,237 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36773,080,363 - 73,122,173 (+)NCBINCBI36Build 36hg18NCBI36
Build 34772,887,168 - 72,927,681NCBI
Celera768,923,491 - 68,963,674 (+)NCBICelera
Cytogenetic Map7q11.23NCBI
HuRef769,326,571 - 69,367,012 (+)NCBIHuRef
CHM1_1773,587,503 - 73,629,630 (+)NCBICHM1_1
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Eln
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395134,731,449 - 134,776,300 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5134,731,447 - 134,776,177 (-)EnsemblGRCm39 Ensembl
GRCm385134,702,595 - 134,747,368 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5134,702,593 - 134,747,323 (-)EnsemblGRCm38mm10GRCm38
MGSCv375135,178,466 - 135,223,124 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365134,987,223 - 135,031,881 (-)NCBIMGSCv36mm8
Celera5131,710,617 - 131,755,279 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map574.76NCBI
Eln
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21221,968,544 - 22,011,929 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1221,968,544 - 22,011,928 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1223,109,255 - 23,152,934 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01223,721,589 - 23,765,283 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01222,789,694 - 22,833,151 (+)NCBIRnor_WKY
Rnor_6.01224,978,478 - 25,021,864 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1224,978,483 - 25,021,863 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01226,978,748 - 27,022,485 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41223,033,657 - 23,077,043 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11222,892,500 - 22,934,907 (+)NCBI
Celera1223,732,827 - 23,776,213 (+)NCBICelera
RH 3.4 Map12345.7RGD
RH 3.4 Map12344.2RGD
Cytogenetic Map12q12NCBI
Eln
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545613,788,992 - 13,818,836 (-)NCBIChiLan1.0ChiLan1.0
ELN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1781,177,699 - 81,218,306 (+)NCBIpanpan1.1PanPan1.1panPan2
ELN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.166,299,524 - 6,331,425 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl66,300,727 - 6,331,325 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha67,997,308 - 8,029,192 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.066,114,552 - 6,146,504 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl66,114,583 - 6,146,603 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.166,104,697 - 6,136,585 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.066,052,537 - 6,084,439 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.066,216,223 - 6,248,126 (-)NCBIUU_Cfam_GSD_1.0
Eln
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344130,871,544 - 130,901,273 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365433,135,169 - 3,165,023 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl311,214,205 - 11,244,897 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1311,214,194 - 11,245,891 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2310,929,464 - 10,935,434 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ELN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1288,999,164 - 9,048,703 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660707,474,714 - 7,540,034 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eln
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474013,856,932 - 13,886,266 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ELN
471 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:14626
Count of miRNA genes:1167
Interacting mature miRNAs:1500
Transcripts:ENST00000252034, ENST00000320399, ENST00000320492, ENST00000357036, ENST00000358929, ENST00000380553, ENST00000380562, ENST00000380575, ENST00000380576, ENST00000380584, ENST00000414324, ENST00000416107, ENST00000417091, ENST00000419398, ENST00000428787, ENST00000429192, ENST00000431562, ENST00000438880, ENST00000438906, ENST00000442310, ENST00000445912, ENST00000458204, ENST00000462506, ENST00000466878, ENST00000468517, ENST00000473323, ENST00000477397, ENST00000479432, ENST00000480728, ENST00000492003, ENST00000492210, ENST00000493839, ENST00000494160
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GDB:226550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,467,615 - 73,467,778UniSTSGRCh37
Build 36773,105,551 - 73,105,714RGDNCBI36
Celera768,947,047 - 68,947,209RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,350,475 - 69,350,634UniSTS
CRA_TCAGchr7v2772,800,687 - 72,800,850UniSTS
SHGC-149516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,445,659 - 73,445,939UniSTSGRCh37
Build 36773,083,595 - 73,083,875RGDNCBI36
Celera768,926,724 - 68,927,004RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,330,113 - 69,330,393UniSTS
CRA_TCAGchr7v2772,778,731 - 72,779,011UniSTS
TNG Radiation Hybrid Map755548.0UniSTS
D7S3270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,452,606 - 73,452,755UniSTSGRCh37
Build 36773,090,542 - 73,090,691RGDNCBI36
Celera768,933,680 - 68,933,829RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,337,065 - 69,337,214UniSTS
CRA_TCAGchr7v2772,785,678 - 72,785,827UniSTS
D7S3298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,483,111 - 73,483,513UniSTSGRCh37
Build 36773,121,047 - 73,121,449RGDNCBI36
Celera768,962,548 - 68,962,950RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,365,886 - 69,366,288UniSTS
CRA_TCAGchr7v2772,816,183 - 72,816,585UniSTS
GDB:3754258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,448,405 - 73,448,545UniSTSGRCh37
Build 36773,086,341 - 73,086,481RGDNCBI36
Celera768,929,479 - 68,929,619RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,332,864 - 69,333,004UniSTS
CRA_TCAGchr7v2772,781,477 - 72,781,617UniSTS
D7S2764  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,483,761 - 73,483,903UniSTSGRCh37
GRCh37773,483,757 - 73,483,943UniSTSGRCh37
Build 36773,121,697 - 73,121,839RGDNCBI36
Celera768,963,194 - 68,963,380UniSTS
Celera768,963,198 - 68,963,340RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,366,536 - 69,366,678UniSTS
HuRef769,366,532 - 69,366,718UniSTS
CRA_TCAGchr7v2772,816,833 - 72,816,975UniSTS
CRA_TCAGchr7v2772,816,829 - 72,817,015UniSTS
TNG Radiation Hybrid Map755530.0UniSTS
Stanford-G3 RH Map73359.0UniSTS
NCBI RH Map7863.0UniSTS
GeneMap99-G3 RH Map73359.0UniSTS
SHGC-36654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,484,080 - 73,484,209UniSTSGRCh37
Build 36773,122,016 - 73,122,145RGDNCBI36
Celera768,963,517 - 68,963,646RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,366,855 - 69,366,984UniSTS
CRA_TCAGchr7v2772,817,152 - 72,817,281UniSTS
TNG Radiation Hybrid Map755530.0UniSTS
Stanford-G3 RH Map73485.0UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73485.0UniSTS
G31704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37773,465,874 - 73,465,987UniSTSGRCh37
Build 36773,103,810 - 73,103,923RGDNCBI36
Celera768,945,306 - 68,945,419RGD
Cytogenetic Map7q11.23UniSTS
HuRef769,348,734 - 69,348,847UniSTS
CRA_TCAGchr7v2772,798,946 - 72,799,059UniSTS
GDB:181244  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
GDB:360310  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
D7S2764  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
Stanford-G3 RH Map73478.0UniSTS
NCBI RH Map7869.9UniSTS
GeneMap99-G3 RH Map73478.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 511 108 5 4 22 5 100
Medium 2239 1630 1145 253 459 92 3369 1511 1722 144 1240 1325 163 1 1198 2116 2
Low 100 347 546 348 366 346 805 655 1973 233 138 96 3 1 571 2 2
Below cutoff 62 495 29 21 652 23 38 14 31 26 34 100 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001081755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA600350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP284909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ796435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF649954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M26867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X52896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252034   ⟹   ENSP00000252034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,173 - 74,069,907 (+)Ensembl
RefSeq Acc Id: ENST00000320399   ⟹   ENSP00000313565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,188 - 74,068,700 (+)Ensembl
RefSeq Acc Id: ENST00000320492   ⟹   ENSP00000315607
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,106 - 74,069,677 (+)Ensembl
RefSeq Acc Id: ENST00000357036   ⟹   ENSP00000349540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,170 - 74,069,907 (+)Ensembl
RefSeq Acc Id: ENST00000358929   ⟹   ENSP00000351807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,027,789 - 74,069,907 (+)Ensembl
RefSeq Acc Id: ENST00000380553   ⟹   ENSP00000369926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,175 - 74,069,677 (+)Ensembl
RefSeq Acc Id: ENST00000380562   ⟹   ENSP00000369936
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,141 - 74,068,700 (+)Ensembl
RefSeq Acc Id: ENST00000380575   ⟹   ENSP00000369949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,157 - 74,069,678 (+)Ensembl
RefSeq Acc Id: ENST00000380576   ⟹   ENSP00000369950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,175 - 74,069,678 (+)Ensembl
RefSeq Acc Id: ENST00000380584   ⟹   ENSP00000369958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,158 - 74,069,907 (+)Ensembl
RefSeq Acc Id: ENST00000414324   ⟹   ENSP00000392575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,129 - 74,069,677 (+)Ensembl
RefSeq Acc Id: ENST00000416107   ⟹   ENSP00000404138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,175 - 74,043,168 (+)Ensembl
RefSeq Acc Id: ENST00000417091   ⟹   ENSP00000411092
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,173 - 74,048,201 (+)Ensembl
RefSeq Acc Id: ENST00000419398   ⟹   ENSP00000412262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,042,634 - 74,045,259 (+)Ensembl
RefSeq Acc Id: ENST00000428787   ⟹   ENSP00000399499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,176 - 74,048,202 (+)Ensembl
RefSeq Acc Id: ENST00000429192   ⟹   ENSP00000391129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,173 - 74,069,904 (+)Ensembl
RefSeq Acc Id: ENST00000431562   ⟹   ENSP00000394549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,101 - 74,045,273 (+)Ensembl
RefSeq Acc Id: ENST00000438880   ⟹   ENSP00000389206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,129 - 74,051,955 (+)Ensembl
RefSeq Acc Id: ENST00000438906   ⟹   ENSP00000406949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,109 - 74,051,983 (+)Ensembl
RefSeq Acc Id: ENST00000442310   ⟹   ENSP00000403961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,175 - 74,046,767 (+)Ensembl
RefSeq Acc Id: ENST00000445912   ⟹   ENSP00000389857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,027,789 - 74,068,763 (+)Ensembl
RefSeq Acc Id: ENST00000458204   ⟹   ENSP00000403162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,163 - 74,069,677 (+)Ensembl
RefSeq Acc Id: ENST00000462506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,173 - 74,043,284 (+)Ensembl
RefSeq Acc Id: ENST00000466878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,052,294 - 74,056,365 (+)Ensembl
RefSeq Acc Id: ENST00000468517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,126 - 74,043,223 (+)Ensembl
RefSeq Acc Id: ENST00000473323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,176 - 74,043,239 (+)Ensembl
RefSeq Acc Id: ENST00000477397
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,045,763 - 74,047,717 (+)Ensembl
RefSeq Acc Id: ENST00000479432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,173 - 74,045,315 (+)Ensembl
RefSeq Acc Id: ENST00000480728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,144 - 74,043,189 (+)Ensembl
RefSeq Acc Id: ENST00000492003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,124 - 74,042,841 (+)Ensembl
RefSeq Acc Id: ENST00000492210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,052,851 - 74,056,347 (+)Ensembl
RefSeq Acc Id: ENST00000493839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,046,659 - 74,052,236 (+)Ensembl
RefSeq Acc Id: ENST00000494160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,114 - 74,038,051 (+)Ensembl
RefSeq Acc Id: ENST00000621115   ⟹   ENSP00000480955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,027,789 - 74,069,899 (+)Ensembl
RefSeq Acc Id: ENST00000685240   ⟹   ENSP00000508448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,037,707 - 74,041,251 (+)Ensembl
RefSeq Acc Id: ENST00000692049   ⟹   ENSP00000510104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl774,028,188 - 74,068,700 (+)Ensembl
RefSeq Acc Id: NM_000501   ⟹   NP_000492
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
GRCh37773,442,119 - 73,484,237 (+)NCBI
Build 36773,080,363 - 73,122,173 (+)NCBI Archive
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001081752   ⟹   NP_001075221
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
GRCh37773,442,119 - 73,484,237 (+)NCBI
Build 36773,080,363 - 73,122,173 (+)NCBI Archive
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001081753   ⟹   NP_001075222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
GRCh37773,442,119 - 73,484,237 (+)NCBI
Build 36773,080,363 - 73,122,173 (+)NCBI Archive
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001081754   ⟹   NP_001075223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
GRCh37773,442,119 - 73,484,237 (+)NCBI
Build 36773,080,363 - 73,122,173 (+)NCBI Archive
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001081755   ⟹   NP_001075224
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
GRCh37773,442,119 - 73,484,237 (+)NCBI
Build 36773,080,363 - 73,122,173 (+)NCBI Archive
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278912   ⟹   NP_001265841
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278913   ⟹   NP_001265842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001278914   ⟹   NP_001265843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38774,028,173 - 74,069,907 (+)NCBI
HuRef769,326,571 - 69,367,012 (+)NCBI
CHM1_1773,587,503 - 73,629,630 (+)NCBI
T2T-CHM13v2.0775,231,309 - 75,273,042 (+)NCBI
CRA_TCAGchr7v2772,775,191 - 72,817,309 (+)NCBI
Sequence: