H19 (H19 imprinted maternally expressed transcript) - Rat Genome Database

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Gene: H19 (H19 imprinted maternally expressed transcript) Homo sapiens
Analyze
Symbol: H19
Name: H19 imprinted maternally expressed transcript
RGD ID: 1604187
HGNC Page HGNC:4713
Description: Predicted to act upstream of or within negative regulation of cell population proliferation; regulation of gene expression; and regulation of growth. Implicated in several diseases, including artery disease (multiple); cerebral infarction; mature T-cell and NK-cell lymphoma; teratoma; and urinary system cancer (multiple). Biomarker of several diseases, including artery disease (multiple); atrial fibrillation; carcinoma (multiple); type 2 diabetes mellitus; and uterine disease (multiple).
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: REVIEWED
Previously known as: ASM; ASM1; BWS; D11S813E; H19, imprinted maternally expressed transcript; H19, imprinted maternally expressed transcript (non-protein coding); LINC00008; MGC4485; MIR675HG; NCRNA00008; PRO2605; WT2
RGD Orthologs
Mouse
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
GRCh38111,995,176 - 2,001,466 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,995,166 - 2,004,552 (-)EnsemblGRCh38hg38GRCh38
GRCh37112,016,406 - 2,022,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,972,982 - 1,975,641 (-)NCBINCBI36Build 36hg18NCBI36
Celera112,055,536 - 2,058,195 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,807,445 - 1,810,104 (-)NCBIHuRef
CHM1_1112,015,226 - 2,017,885 (-)NCBICHM1_1
T2T-CHM13v2.0112,082,853 - 2,089,143 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myocardial infarction  (ISO)
Animal Hepatitis  (EXP)
aortic dissection  (IEP,ISO)
arteriosclerosis obliterans  (IEP,ISO)
atherosclerosis  (IEP,ISO)
atrial fibrillation  (IEP)
Beckwith-Wiedemann syndrome  (IAGP)
Birth Weight  (EXP)
breast adenocarcinoma  (IEP)
breast cancer  (IAGP)
Breast Neoplasms  (EXP)
bronchopulmonary dysplasia  (ISO)
Carcinogenesis  (EXP)
Cardiac Fibrosis  (ISO)
Cardiomegaly  (IEP,ISO)
Carotid Artery Injuries  (ISO)
cerebral infarction  (IAGP,IEP,ISO)
cervix carcinoma  (IEP)
Chemical and Drug Induced Liver Injury  (EXP)
congestive heart failure  (EXP,IEP)
coronary artery disease  (IAGP)
delta beta-thalassemia  (IAGP)
developmental and epileptic encephalopathy  (IAGP)
Diabetic Cardiomyopathies  (ISO)
Diabetic Foot  (IEP,ISO)
dilated cardiomyopathy  (ISO)
early infantile epileptic encephalopathy  (IAGP)
endometrial carcinoma  (IEP)
endometrial hyperplasia  (IEP)
esophagus squamous cell carcinoma  (EXP)
Experimental Liver Neoplasms  (EXP,ISO)
Experimental Mammary Neoplasms  (ISO)
Germ Cell and Embryonal Neoplasms  (IDA)
heart cancer  (ISO)
hepatocellular carcinoma  (ISO)
immunodeficiency 39  (IAGP)
lung non-small cell carcinoma  (IEP)
mature T-cell and NK-cell lymphoma  (IAGP)
middle cerebral artery infarction  (ISO)
multiple myeloma  (IEP)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
Neoplasm Invasiveness  (EXP)
Neoplastic Cell Transformation  (EXP)
nephroblastoma  (EXP,IDA)
neuronal ceroid lipofuscinosis  (IAGP)
ovary epithelial cancer  (IAGP)
pre-eclampsia  (IEP,ISO)
Pulmonary Arterial Hypertension  (ISO)
renal Wilms' tumor  (IDA)
retinal ischemia  (ISO)
Segawa Syndrome, Autosomal Recessive  (IAGP)
severe pre-eclampsia  (IDA)
Silver-Russell syndrome  (EXP)
small artery occlusion  (IEP)
teratocarcinoma  (ISO)
teratoma  (IDA)
Tobacco Use Disorder  (EXP)
transitional cell carcinoma  (ISO)
type 2 diabetes mellitus  (IEP)
urinary bladder cancer  (IAGP,IMP,ISO)
uterine cancer  (IEP)
Wilms Tumor 2  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
astragaloside IV  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cantharidin  (EXP)
CGP 52608  (EXP)
CHIR 99021  (EXP)
chlorpyrifos-methyl  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
curcumin  (EXP,ISO)
cyclosporin A  (EXP)
D-glucose  (EXP)
DDE  (ISO)
dexamethasone  (EXP,ISO)
dibenzo[a,l]pyrene  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
doxorubicin  (EXP,ISO)
ethanol  (ISO)
fipronil  (EXP)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
GW 4064  (ISO)
hydrogen peroxide  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lidocaine  (ISO)
luzindole  (ISO)
malathion  (EXP)
melatonin  (ISO)
melittin  (EXP)
metformin  (EXP,ISO)
methylmercury chloride  (ISO)
monocrotaline  (ISO)
N,N-diethyl-m-toluamide  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel subsulfide  (ISO)
Nutlin-3  (EXP)
ozone  (ISO)
paracetamol  (EXP)
parathion  (EXP)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
progesterone  (ISO)
propanal  (EXP)
propofol  (EXP)
raloxifene  (EXP)
resveratrol  (EXP,ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
streptozocin  (ISO)
tamoxifen  (EXP,ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal coronary artery morphology  (IAGP)
Abnormal external genitalia  (IAGP)
Abnormality of the dentition  (IAGP)
Aniridia  (IAGP)
Asymmetric growth  (IAGP)
Asymmetry of the thorax  (IAGP)
Autosomal dominant inheritance  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Decreased fetal movement  (IAGP)
Decreased LDL cholesterol concentration  (IAGP)
Delayed closure of the anterior fontanelle  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Diabetes mellitus  (IAGP)
Diastasis recti  (IAGP)
Elevated diastolic blood pressure  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Fever  (IAGP)
Hematuria  (IAGP)
Hemihypertrophy  (IAGP)
High palate  (IAGP)
Hyperhidrosis  (IAGP)
Hyperhomocystinemia  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypoglycemia  (IAGP)
Impaired pain sensation  (IAGP)
Infantile muscular hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Ischemic stroke  (IAGP)
Lower limb asymmetry  (IAGP)
Lymphadenopathy  (IAGP)
Midface retrusion  (IAGP)
Motor delay  (IAGP)
Myelomeningocele  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neoplasm  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the lung  (IAGP)
Nephroblastoma  (IAGP)
Nevus flammeus  (IAGP)
Oligohydramnios  (IAGP)
Polydactyly  (IAGP)
Postnatal growth retardation  (IAGP)
Prolonged prothrombin time  (IAGP)
Prominent forehead  (IAGP)
Protruding ear  (IAGP)
Relative macrocephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe intrauterine growth retardation  (IAGP)
Short chin  (IAGP)
Short stature  (IAGP)
Small for gestational age  (IAGP)
Specific learning disability  (IAGP)
T-cell lymphoma  (IAGP)
Triangular face  (IAGP)
Typified by somatic mosaicism  (IAGP)
Umbilical hernia  (IAGP)
Upper limb asymmetry  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. H19 overexpression in breast adenocarcinoma stromal cells is associated with tumor values and steroid receptor status but independent of p53 and Ki-67 expression. Adriaenssens E, etal., Am J Pathol. 1998 Nov;153(5):1597-607.
2. Assessment of Cell-Free Long Non-Coding RNA-H19 and miRNA-29a, miRNA-29b Expression and Severity of Diabetes. Alfaifi M, etal., Diabetes Metab Syndr Obes. 2020 Oct 14;13:3727-3737. doi: 10.2147/DMSO.S273586. eCollection 2020.
3. Gene expression in the bladder carcinoma rat model. Ariel I, etal., Mol Carcinog. 2004 Oct;41(2):69-76.
4. Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists. Bhatti P, etal., Cancer Epidemiol Biomarkers Prev. 2008 Aug;17(8):2007-11.
5. Long noncoding RNA H19 mediates melatonin inhibition of premature senescence of c-kit(+) cardiac progenitor cells by promoting miR-675. Cai B, etal., J Pineal Res. 2016 Aug;61(1):82-95. doi: 10.1111/jpi.12331. Epub 2016 Apr 29.
6. LncRNA H19/miR-let-7 axis participates in the regulation of ox-LDL-induced endothelial cell injury via targeting periostin. Cao L, etal., Int Immunopharmacol. 2019 Jul;72:496-503. doi: 10.1016/j.intimp.2019.04.042. Epub 2019 May 1.
7. Loss of imprinting of the IGF-II and H19 genes in epithelial ovarian cancer. Chen CL, etal., Clin Cancer Res. 2000 Feb;6(2):474-9.
8. Loss of imprinting of insulin-like growth factor-II in Wilms' tumor commonly involves altered methylation but not mutations of CTCF or its binding site. Cui H, etal., Cancer Res. 2001 Jul 1;61(13):4947-50.
9. Hepatocellular carcinomas of the albumin SV40 T-antigen transgenic rat display fetal-like re-expression of lgf2 and deregulation of H19. Czarny MJ, etal., Mol Carcinog. 2007 Sep;46(9):747-57.
10. The dynamics of the imprinted H19 gene expression in the mouse model of bladder carcinoma induced by N-butyl-N-(4-hydroxybutyl)nitrosamine. Elkin M, etal., Carcinogenesis. 1998 Dec;19(12):2095-9.
11. Identification of novel differentially expressed genes by the effect of a high-fat n-6 diet in experimental breast cancer. Escrich E, etal., Mol Carcinog. 2004 Jun;40(2):73-8.
12. LncRNA H19 Aggravates Cerebral Ischemia/Reperfusion Injury by Functioning as a ceRNA for miR-19a-3p to Target PTEN. Gao N, etal., Neuroscience. 2020 Jun 15;437:117-129. doi: 10.1016/j.neuroscience.2020.04.020. Epub 2020 Apr 24.
13. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Gaston V, etal., Eur J Hum Genet. 2001 Jun;9(6):409-18.
14. Long noncoding RNA dysregulation in ischemic heart failure. Greco S, etal., J Transl Med. 2016 Jun 18;14(1):183. doi: 10.1186/s12967-016-0926-5.
15. LncRNA H19 Drives Proliferation of Cardiac Fibroblasts and Collagen Production via Suppression of the miR-29a-3p/miR-29b-3p-VEGFA/TGF-β Axis. Guo F, etal., Mol Cells. 2022 Mar 31;45(3):122-133. doi: 10.14348/molcells.2021.0066.
16. LncRNA H19 suppresses pyroptosis of cardiomyocytes to attenuate myocardial infarction in a PBX3/CYP1B1-dependent manner. Han Y, etal., Mol Cell Biochem. 2021 Mar;476(3):1387-1400. doi: 10.1007/s11010-020-03998-y. Epub 2021 Jan 3.
17. Relationship between Long Noncoding RNA H19 Polymorphisms and Risk of Coronary Artery Disease in a Chinese Population: A Case-Control Study. Hu WN, etal., Dis Markers. 2020 May 10;2020:9839612. doi: 10.1155/2020/9839612. eCollection 2020.
18. Association of long noncoding RNA H19 polymorphisms with the susceptibility and clinical features of ischemic stroke in southern Chinese Han population. Huang J, etal., Metab Brain Dis. 2019 Aug;34(4):1011-1021. doi: 10.1007/s11011-019-00417-0. Epub 2019 Apr 30.
19. Long Noncoding RNA-H19 Contributes to Atherosclerosis and Induces Ischemic Stroke via the Upregulation of Acid Phosphatase 5. Huang Y, etal., Front Neurol. 2019 Feb 4;10:32. doi: 10.3389/fneur.2019.00032. eCollection 2019.
20. LncRNA H19 interacted with miR-130a-3p and miR-17-5p to modify radio-resistance and chemo-sensitivity of cardiac carcinoma cells. Jia J, etal., Cancer Med. 2019 Apr;8(4):1604-1618. doi: 10.1002/cam4.1860. Epub 2019 Mar 6.
21. Erasure of methylation imprint at the promoter and CTCF-binding site upstream of H19 in human testicular germ cell tumors of adolescents indicate their fetal germ cell origin. Kawakami T, etal., Oncogene. 2006 Jun 1;25(23):3225-36. Epub 2006 Jan 23.
22. Alterations in promoter usage and expression levels of insulin-like growth factor-II and H19 genes in cervical carcinoma exhibiting biallelic expression of IGF-II. Kim SJ, etal., Biochim Biophys Acta. 2002 Apr 24;1586(3):307-15.
23. Long noncoding RNA H19 acts as a miR-29b sponge to promote wound healing in diabetic foot ulcer. Li B, etal., FASEB J. 2021 Jan;35(1):e20526. doi: 10.1096/fj.201900076RRRRR. Epub 2020 Nov 10.
24. Long non-coding RNA H19 promotes leukocyte inflammation in ischemic stroke by targeting the miR-29b/C1QTNF6 axis. Li G, etal., CNS Neurosci Ther. 2022 Jun;28(6):953-963. doi: 10.1111/cns.13829. Epub 2022 Mar 24.
25. PFOS-induced placental cell growth inhibition is partially mediated by lncRNA H19 through interacting with miR-19a and miR-19b. Li J, etal., Chemosphere. 2020 Dec;261:127640. doi: 10.1016/j.chemosphere.2020.127640. Epub 2020 Jul 13.
26. lncRNA H19 Alleviated Myocardial I/RI via Suppressing miR-877-3p/Bcl-2-Mediated Mitochondrial Apoptosis. Li X, etal., Mol Ther Nucleic Acids. 2019 Sep 6;17:297-309. doi: 10.1016/j.omtn.2019.05.031. Epub 2019 Jun 14.
27. lncRNA H19/miR-675 axis regulates cardiomyocyte apoptosis by targeting VDAC1 in diabetic cardiomyopathy. Li X, etal., Sci Rep. 2016 Oct 31;6:36340. doi: 10.1038/srep36340.
28. Effect of lncRNA H19 on the apoptosis of vascular endothelial cells in arteriosclerosis obliterans via the NF-κB pathway. Li ZF, etal., Eur Rev Med Pharmacol Sci. 2019 May;23(10):4491-4497. doi: 10.26355/eurrev_201905_17961.
29. The H19 long noncoding RNA is a novel negative regulator of cardiomyocyte hypertrophy. Liu L, etal., Cardiovasc Res. 2016 Jul 1;111(1):56-65. doi: 10.1093/cvr/cvw078. Epub 2016 Apr 15.
30. The human H19 gene is frequently overexpressed in myometrium and stroma during pathological endometrial proliferative events. Lottin S, etal., Eur J Cancer. 2005 Jan;41(1):168-77.
31. Methylation pattern of H19 exon 1 is closely related to preeclampsia and trophoblast abnormalities. Lu L, etal., Int J Mol Med. 2014 Sep;34(3):765-71. doi: 10.3892/ijmm.2014.1816. Epub 2014 Jun 23.
32. LncRNA H19 inhibits high glucose-induced inflammatory responses of human retinal epithelial cells by targeting miR-19b to increase SIRT1 expression. Luo R, etal., Kaohsiung J Med Sci. 2021 Feb;37(2):101-110. doi: 10.1002/kjm2.12302. Epub 2020 Oct 6.
33. Changes in the DNA methylation profile of the rat H19 gene upstream region during development and transgenic hepatocarcinogenesis and its role in the imprinted transcriptional regulation of the H19 gene. Manoharan H, etal., Mol Carcinog 2004 Sep;41(1):1-16.
34. Methylation imprinting of H19 and SNRPN genes in human benign ovarian teratomas. Miura K, etal., Am J Hum Genet. 1999 Nov;65(5):1359-67.
35. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
36. LncRNA H19 promotes atherosclerosis by regulating MAPK and NF-kB signaling pathway. Pan JX, Eur Rev Med Pharmacol Sci. 2017 Jan;21(2):322-328.
37. Serum level of long noncoding RNA H19 as a diagnostic biomarker of multiple myeloma. Pan Y, etal., Clin Chim Acta. 2018 May;480:199-205. doi: 10.1016/j.cca.2018.02.019. Epub 2018 Feb 19.
38. LncRNA H19 serves as a ceRNA and participates in non-small cell lung cancer development by regulating microRNA-107. Qian B, etal., Eur Rev Med Pharmacol Sci. 2018 Sep;22(18):5946-5953. doi: 10.26355/eurrev_201809_15925.
39. LncRNA H19 regulates smooth muscle cell functions and participates in the development of aortic dissection through sponging miR-193b-3p. Ren M, etal., Biosci Rep. 2021 Jan 29;41(1):BSR20202298. doi: 10.1042/BSR20202298.
40. Long non-coding RNA H19 expression and functional polymorphism rs217727 are linked to increased ischemic stroke risk. Rezaei M, etal., BMC Neurol. 2021 Feb 4;21(1):54. doi: 10.1186/s12883-021-02081-3.
41. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
42. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
43. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
44. Metformin exhibits its therapeutic effect in the treatment of pre-eclampsia via modulating the Met/H19/miR-148a-5p/P28 and Met/H19/miR-216-3p/EBI3 signaling pathways. Shu C, etal.
45. Phase I/II marker lesion study of intravesical BC-819 DNA plasmid in H19 over expressing superficial bladder cancer refractory to bacillus Calmette-Guerin. Sidi AA, etal., J Urol. 2008 Dec;180(6):2379-83. Epub 2008 Oct 31.
46. Association of astragaloside IV-inhibited autophagy and mineralization in vascular smooth muscle cells with lncRNA H19 and DUSP5-mediated ERK signaling. Song Z, etal., Toxicol Appl Pharmacol. 2019 Feb 1;364:45-54. doi: 10.1016/j.taap.2018.12.002. Epub 2018 Dec 5.
47. LncRNA H19 promotes the proliferation of pulmonary artery smooth muscle cells through AT1R via sponging let-7b in monocrotaline-induced pulmonary arterial hypertension. Su H, etal., Respir Res. 2018 Dec 14;19(1):254. doi: 10.1186/s12931-018-0956-z.
48. Downregulation of lncRNA H19 alleviates atherosclerosis through inducing the apoptosis of vascular smooth muscle cells. Sun H, etal., Mol Med Rep. 2020 Oct;22(4):3095-3102. doi: 10.3892/mmr.2020.11394. Epub 2020 Jul 31.
49. Large scale mapping of methylcytosines in CTCF-binding sites in the human H19 promoter and aberrant hypomethylation in human bladder cancer. Takai D, etal., Hum Mol Genet. 2001 Nov 1;10(23):2619-26.
50. H19 and IGF2 gene expression in human normal, hyperplastic, and malignant endometrium. Tanos V, etal., Int J Gynecol Cancer. 2004 May-Jun;14(3):521-5.
51. Long noncoding RNA H19 controls DUSP5/ERK1/2 axis in cardiac fibroblast proliferation and fibrosis. Tao H, etal., Cardiovasc Pathol. 2016 Sep-Oct;25(5):381-9. doi: 10.1016/j.carpath.2016.05.005. Epub 2016 Jun 2.
52. Polymorphisms in the H19 gene and the risk of bladder cancer. Verhaegh GW, etal., Eur Urol. 2008 Nov;54(5):1118-26. Epub 2008 Feb 4.
53. LncRNA H19 initiates microglial pyroptosis and neuronal death in retinal ischemia/reperfusion injury. Wan P, etal., Cell Death Differ. 2020 Jan;27(1):176-191. doi: 10.1038/s41418-019-0351-4. Epub 2019 May 24.
54. Long noncoding RNA H19 suppresses cardiac hypertrophy through the MicroRNA-145-3p/SMAD4 axis. Wang H, etal., Bioengineered. 2022 Feb;13(2):3826-3839. doi: 10.1080/21655979.2021.2017564.
55. Long Non-coding RNA H19 Induces Cerebral Ischemia Reperfusion Injury via Activation of Autophagy. Wang J, etal., Aging Dis. 2017 Feb 1;8(1):71-84. doi: 10.14336/AD.2016.0530. eCollection 2017 Feb.
56. Exosome-transported lncRNA H19 regulates insulin-like growth factor-1 via the H19/let-7a/insulin-like growth factor-1 receptor axis in ischemic stroke. Wang J, etal., Neural Regen Res. 2023 Jun;18(6):1316-1320. doi: 10.4103/1673-5374.357901.
57. Long Noncoding RNA H19 Promotes Neuroinflammation in Ischemic Stroke by Driving Histone Deacetylase 1-Dependent M1 Microglial Polarization. Wang J, etal., Stroke. 2017 Aug;48(8):2211-2221. doi: 10.1161/STROKEAHA.117.017387. Epub 2017 Jun 19.
58. Identifying Involvement of H19-miR-675-3p-IGF1R and H19-miR-200a-PDCD4 in Treating Pulmonary Hypertension with Melatonin. Wang R, etal., Mol Ther Nucleic Acids. 2018 Dec 7;13:44-54. doi: 10.1016/j.omtn.2018.08.015. Epub 2018 Aug 24.
59. LncRNA H19 inhibits ER stress induced apoptosis and improves diabetic cardiomyopathy by regulating PI3K/AKT/mTOR axis. Wang S, etal., Aging (Albany NY). 2022 Aug 30;14(16):6809-6828. doi: 10.18632/aging.204256. Epub 2022 Aug 30.
60. Blocking lncRNA H19-miR-19a-Id2 axis attenuates hypoxia/ischemia induced neuronal injury. Xiao Z, etal., Aging (Albany NY). 2019 Jun 5;11(11):3585-3600. doi: 10.18632/aging.101999.
61. Overexpression of long non-coding RNA H19 promotes invasion and autophagy via the PI3K/AKT/mTOR pathways in trophoblast cells. Xu J, etal., Biomed Pharmacother. 2018 May;101:691-697. doi: 10.1016/j.biopha.2018.02.134. Epub 2018 Mar 22.
62. Silencing of long non-coding RNA H19 downregulates CTCF to protect against atherosclerosis by upregulating PKD1 expression in ApoE knockout mice. Yang Y, etal., Aging (Albany NY). 2019 Nov 22;11(22):10016-10030. doi: 10.18632/aging.102388. Epub 2019 Nov 22.
63. Knockdown of lncRNA H19 alleviates ox-LDL-induced HCAECs inflammation and injury by mediating miR-20a-5p/HDAC4 axis. Yang Y, etal., Inflamm Res. 2022 Sep;71(9):1109-1121. doi: 10.1007/s00011-022-01604-z. Epub 2022 Jul 19.
64. The H19 locus acts in vivo as a tumor suppressor. Yoshimizu T, etal., Proc Natl Acad Sci U S A. 2008 Aug 26;105(34):12417-22. Epub 2008 Aug 21.
65. LncRNA H19 ameliorates myocardial infarction-induced myocardial injury and maladaptive cardiac remodelling by regulating KDM3A. Zhang BF, etal., J Cell Mol Med. 2020 Jan;24(1):1099-1115. doi: 10.1111/jcmm.14846. Epub 2019 Nov 21.
66. Correlation between lncRNA H19 rs2839698 polymorphism and susceptibility to NK / T cell lymphoma in Chinese population. Zhang J, etal., J BUON. 2021 Mar-Apr;26(2):587-591.
67. Mechanism of lncRNA H19 in Regulating Pulmonary Injury in Hyperoxia-Induced Bronchopulmonary Dysplasia Newborn Mice. Zhang L, etal., Am J Perinatol. 2022 Jul;39(10):1089-1096. doi: 10.1055/s-0040-1721498. Epub 2020 Dec 7.
68. The long non-coding RNA H19 promotes cardiomyocyte apoptosis in dilated cardiomyopathy. Zhang Y, etal., Oncotarget. 2017 Apr 25;8(17):28588-28594. doi: 10.18632/oncotarget.15544.
69. LncRNA H19 abrogates the protective effects of curcumin on rat carotid balloon injury via activating Wnt/β-catenin signaling pathway. Zhou F, etal., Eur J Pharmacol. 2021 Nov 5;910:174485. doi: 10.1016/j.ejphar.2021.174485. Epub 2021 Sep 3.
70. LncRNA H19 inhibits autophagy by epigenetically silencing of DIRAS3 in diabetic cardiomyopathy. Zhuo C, etal., Oncotarget. 2017 Jan 3;8(1):1429-1437. doi: 10.18632/oncotarget.13637.
Additional References at PubMed
PMID:1688465   PMID:1953776   PMID:2595451   PMID:8385745   PMID:8997520   PMID:9716667   PMID:10810089   PMID:11813134   PMID:11889182   PMID:11971967   PMID:12419837   PMID:12439823  
PMID:12477932   PMID:12569573   PMID:12605037   PMID:12682647   PMID:12937131   PMID:14702039   PMID:15146197   PMID:15158633   PMID:15314640   PMID:15645136   PMID:15885138   PMID:16344560  
PMID:16603642   PMID:16608903   PMID:16708166   PMID:17294726   PMID:17786216   PMID:18006818   PMID:18159214   PMID:18245780   PMID:18358696   PMID:18573128   PMID:18604514   PMID:18627058  
PMID:18632606   PMID:18709478   PMID:19017756   PMID:19066168   PMID:19167051   PMID:19342096   PMID:19499149   PMID:19513555   PMID:19570415   PMID:19711451   PMID:19843670   PMID:19876907  
PMID:19950580   PMID:19956766   PMID:19956846   PMID:20007505   PMID:20042264   PMID:20104244   PMID:20145138   PMID:20301471   PMID:20301499   PMID:20301534   PMID:20301568   PMID:20418667  
PMID:20483645   PMID:20554749   PMID:20587610   PMID:20639793   PMID:20661447   PMID:20861572   PMID:21129773   PMID:21282187   PMID:21326306   PMID:21420679   PMID:21458801   PMID:21573965  
PMID:21654730   PMID:21863054   PMID:22395465   PMID:22527881   PMID:22646060   PMID:22679513   PMID:22776265   PMID:22832245   PMID:22879348   PMID:22959455   PMID:23040914   PMID:23042795  
PMID:23118352   PMID:23153226   PMID:23222811   PMID:23227253   PMID:23343754   PMID:23354591   PMID:23399020   PMID:23620526   PMID:23724145   PMID:23725790   PMID:23811339   PMID:23898077  
PMID:23936387   PMID:23943562   PMID:23965803   PMID:23975186   PMID:24015185   PMID:24055342   PMID:24296634   PMID:24349121   PMID:24388988   PMID:24466011   PMID:24671855   PMID:24685695  
PMID:24703882   PMID:24706416   PMID:24725430   PMID:24761865   PMID:24810858   PMID:24920070   PMID:24934635   PMID:24939300   PMID:24972507   PMID:24986528   PMID:24988946   PMID:25088204  
PMID:25173192   PMID:25205099   PMID:25293351   PMID:25385579   PMID:25399420   PMID:25521223   PMID:25531890   PMID:25567531   PMID:25772106   PMID:25846769   PMID:25944697   PMID:25944846  
PMID:26068968   PMID:26089099   PMID:26096073   PMID:26116569   PMID:26136615   PMID:26160158   PMID:26163939   PMID:26272696   PMID:26274999   PMID:26323944   PMID:26353930   PMID:26415227  
PMID:26417995   PMID:26482621   PMID:26687445   PMID:26691664   PMID:26722426   PMID:26774144   PMID:26803515   PMID:26838806   PMID:26840070   PMID:26872375   PMID:26884465   PMID:26886624  
PMID:26931432   PMID:26962997   PMID:26969084   PMID:26989025   PMID:27023171   PMID:27027436   PMID:27040767   PMID:27059301   PMID:27091055   PMID:27093644   PMID:27152123   PMID:27184562  
PMID:27193186   PMID:27223264   PMID:27230729   PMID:27247022   PMID:27348443   PMID:27349231   PMID:27436784   PMID:27486980   PMID:27501229   PMID:27540977   PMID:27543358   PMID:27573434  
PMID:27582487   PMID:27592063   PMID:27607135   PMID:27612309   PMID:27621468   PMID:27626436   PMID:27633578   PMID:27687727   PMID:27693036   PMID:27701793   PMID:27716361   PMID:27732938  
PMID:27738631   PMID:27780718   PMID:27789274   PMID:27789555   PMID:27809873   PMID:27813675   PMID:27825121   PMID:27845892   PMID:27874091   PMID:27895107   PMID:27911863   PMID:27919747  
PMID:27926484   PMID:27994496   PMID:28067543   PMID:28102845   PMID:28164117   PMID:28189050   PMID:28314879   PMID:28327666   PMID:28367967   PMID:28404885   PMID:28528181   PMID:28544374  
PMID:28611183   PMID:28629288   PMID:28655518   PMID:28765931   PMID:28776669   PMID:28779971   PMID:28790415   PMID:28791461   PMID:28797320   PMID:28799568   PMID:28848149   PMID:28865728  
PMID:28886306   PMID:28914367   PMID:28930564   PMID:28963438   PMID:28975992   PMID:28975993   PMID:28986522   PMID:29036538   PMID:29099749   PMID:29172088   PMID:29207111   PMID:29253550  
PMID:29287713   PMID:29344674   PMID:29350287   PMID:29380421   PMID:29425397   PMID:29449695   PMID:29468525   PMID:29479897   PMID:29511035   PMID:29512257   PMID:29520849   PMID:29523225  
PMID:29544765   PMID:29568924   PMID:29568965   PMID:29581580   PMID:29595036   PMID:29604339   PMID:29614625   PMID:29621481   PMID:29643943   PMID:29669788   PMID:29693231   PMID:29698523  
PMID:29703210   PMID:29708855   PMID:29737472   PMID:29754471   PMID:29762823   PMID:29772428   PMID:29800569   PMID:29946374   PMID:29950144   PMID:29962225   PMID:29968942   PMID:29970666  
PMID:29981420   PMID:30014520   PMID:30021355   PMID:30070313   PMID:30071841   PMID:30077720   PMID:30083271   PMID:30096248   PMID:30107531   PMID:30165103   PMID:30190464   PMID:30201684  
PMID:30219045   PMID:30241458   PMID:30244121   PMID:30270743   PMID:30278464   PMID:30282068   PMID:30286462   PMID:30305120   PMID:30312698   PMID:30338598   PMID:30362512   PMID:30362559  
PMID:30362572   PMID:30367502   PMID:30382470   PMID:30389909   PMID:30430771   PMID:30451820   PMID:30474270   PMID:30485527   PMID:30497079   PMID:30536700   PMID:30542738   PMID:30543848  
PMID:30551879   PMID:30610809   PMID:30612136   PMID:30633332   PMID:30659641   PMID:30672383   PMID:30747209   PMID:30755596   PMID:30780128   PMID:30781795   PMID:30803129   PMID:30890582  
PMID:30892430   PMID:30910558   PMID:30922932   PMID:30945348   PMID:30948500   PMID:30988156   PMID:31013794   PMID:31020694   PMID:31026067   PMID:31026090   PMID:31029881   PMID:31064820  
PMID:31081061   PMID:31082428   PMID:31085188   PMID:31089260   PMID:31102664   PMID:31102753   PMID:31117050   PMID:31128034   PMID:31131469   PMID:31187349   PMID:31219199   PMID:31229557  
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PMID:35243752   PMID:35300768   PMID:35345660   PMID:35378195   PMID:35392782   PMID:35472819   PMID:35506168   PMID:35818166   PMID:36010635   PMID:36038043   PMID:36104825   PMID:36169175  
PMID:36232884   PMID:36434485   PMID:36861261   PMID:36882843   PMID:37058751   PMID:37103602   PMID:37132584   PMID:37279381   PMID:37294471   PMID:37310354   PMID:37326896   PMID:37394140  
PMID:37409531   PMID:37480014   PMID:37742288   PMID:37744274   PMID:37769274   PMID:37821504   PMID:37882711   PMID:38161577   PMID:38166752   PMID:38197195   PMID:38481010  


Genomics

Comparative Map Data
H19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38111,995,176 - 2,001,466 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,995,166 - 2,004,552 (-)EnsemblGRCh38hg38GRCh38
GRCh37112,016,406 - 2,022,696 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,972,982 - 1,975,641 (-)NCBINCBI36Build 36hg18NCBI36
Celera112,055,536 - 2,058,195 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef111,807,445 - 1,810,104 (-)NCBIHuRef
CHM1_1112,015,226 - 2,017,885 (-)NCBICHM1_1
T2T-CHM13v2.0112,082,853 - 2,089,143 (-)NCBIT2T-CHM13v2.0
H19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397142,129,267 - 142,131,883 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7142,129,262 - 142,131,917 (-)EnsemblGRCm39 Ensembl
GRCm387142,575,530 - 142,578,146 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7142,575,529 - 142,578,143 (-)EnsemblGRCm38mm10GRCm38
MGSCv377149,761,437 - 149,764,051 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367142,384,922 - 142,387,536 (-)NCBIMGSCv36mm8
Celera7142,331,374 - 142,333,988 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map787.97NCBI
H19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81207,160,175 - 207,162,851 (-)NCBIGRCr8
mRatBN7.21197,730,698 - 197,733,374 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1197,730,698 - 197,733,134 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1206,103,477 - 206,106,153 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,189,309 - 213,191,985 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01205,863,465 - 205,866,141 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01215,744,404 - 215,747,080 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01222,639,223 - 222,641,899 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41202,822,925 - 202,825,601 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1195,348,096 - 195,350,772 (-)NCBICelera
Cytogenetic Map1q41NCBI

Variants

.
Variants in H19
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
H19, 1.8-KB DEL deletion Beckwith-Wiedemann syndrome [RCV000019903] Chr11:11p15.5 pathogenic
H19, 5.3-KB DEL deletion Beckwith-Wiedemann syndrome [RCV000019905]|Wilms tumor 2 [RCV000019904] Chr11:11p15.5 pathogenic
H19, 1.43-KB TRIPLICATION variation Wilms tumor 2 [RCV000019906] Chr11:11p15.5 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1 copy number loss See cases [RCV000052645] Chr11:758848..1998025 [GRCh38]
Chr11:758848..2019255 [GRCh37]
Chr11:748848..1975831 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3 copy number gain See cases [RCV000053615] Chr11:1923685..2003319 [GRCh38]
Chr11:1944915..2024549 [GRCh37]
Chr11:1901491..1981125 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3 copy number gain See cases [RCV000136112] Chr11:1975511..2888695 [GRCh38]
Chr11:1996741..2909925 [GRCh37]
Chr11:1953317..2866501 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3 copy number gain See cases [RCV000136847] Chr11:1537379..3360769 [GRCh38]
Chr11:1558609..3381999 [GRCh37]
Chr11:1515185..3338575 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:1975511-2138446)x3 copy number gain See cases [RCV000137018] Chr11:1975511..2138446 [GRCh38]
Chr11:1996741..2159676 [GRCh37]
Chr11:1953317..2116252 [NCBI36]
Chr11:11p15.5		 benign
GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1 copy number loss See cases [RCV000137066] Chr11:1975511..3624139 [GRCh38]
Chr11:1996741..3645369 [GRCh37]
Chr11:1953317..3601945 [NCBI36]
Chr11:11p15.5-15.4		 uncertain significance
GRCh38/hg38 11p15.5(chr11:1995445-1995611)x3 copy number gain See cases [RCV000137213] Chr11:1995445..1995611 [GRCh38]
Chr11:2016675..2016841 [GRCh37]
Chr11:1973251..1973417 [NCBI36]
Chr11:11p15.5		 benign
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1 copy number loss See cases [RCV000142464] Chr11:1132899..3213923 [GRCh38]
Chr11:1126807..3235153 [GRCh37]
Chr11:1116807..3191729 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NR_131224.1(H19):n.-297A>C single nucleotide variant Beckwith-Wiedemann syndrome [RCV000190278] Chr11:2001763 [GRCh38]
Chr11:2022993 [GRCh37]
Chr11:11p15.5		 not provided
GRCh38/hg38 11p15.5(chr11:1998451-1999317)x3 copy number gain See cases [RCV000141481] Chr11:1998451..1999317 [GRCh38]
Chr11:2019681..2020547 [GRCh37]
Chr11:1976257..1977123 [NCBI36]
Chr11:11p15.5		 benign
NR_002196.1(H19):n.-7080_-1781del deletion Beckwith-Wiedemann syndrome [RCV000149877]|Wilms tumor 2 [RCV000149876] Chr11:1999620..2004915 [GRCh38]
Chr11:11p15.5		 pathogenic|not provided
GRCh38/hg38 11p15.5(chr11:2000799-2001783)x3 copy number gain Wilms tumor 2 [RCV000149878] Chr11:2000799..2001783 [GRCh38]
Chr11:2022029..2023013 [GRCh37]
Chr11:11p15.5		 pathogenic
NR_131224.1(H19):n.249+613T>A single nucleotide variant Beckwith-Wiedemann syndrome [RCV000128485] Chr11:2000605 [GRCh38]
Chr11:2021835 [GRCh37]
Chr11:11p15.5		 not provided
NR_131224.1(H19):n.249+189G>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000128484] Chr11:2001029 [GRCh38]
Chr11:2022259 [GRCh37]
Chr11:11p15.5		 not provided
NR_131224.1(H19):n.249+1110G>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000128483] Chr11:2000108 [GRCh38]
Chr11:2021338 [GRCh37]
Chr11:11p15.5		 not provided
NR_131224.1(H19):n.249+510A>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000128482] Chr11:2000708 [GRCh38]
Chr11:2021938 [GRCh37]
Chr11:11p15.5		 not provided
NR_131224.1(H19):n.249+135C>T single nucleotide variant Beckwith-Wiedemann syndrome [RCV000128480] Chr11:2001083 [GRCh38]
Chr11:2022313 [GRCh37]
Chr11:11p15.5		 not provided
NR_131224.1(H19):n.249+989C>T single nucleotide variant not provided [RCV000190275] Chr11:2000229 [GRCh38]
Chr11:2021459 [GRCh37]
Chr11:11p15.5		 not provided
NR_131224.1(H19):n.249+306C>T single nucleotide variant not provided [RCV000190276] Chr11:2000912 [GRCh38]
Chr11:2022142 [GRCh37]
Chr11:11p15.5		 not provided
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5(chr11:2011731-2059924)x3 copy number gain See cases [RCV000511081] Chr11:2011731..2059924 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5(chr11:1690968-2277648)x3 copy number gain See cases [RCV000512345] Chr11:1690968..2277648 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NC_000011.9:g.(?_1774733)_(2019125_?)dup duplication Neuronal ceroid lipofuscinosis [RCV003107551] Chr11:1774733..2019125 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5(chr11:1436158-2321134)x3 copy number gain not provided [RCV001259591] Chr11:1436158..2321134 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
GRCh37/hg19 11p15.5(chr11:1719815-2321109)x3 copy number gain not provided [RCV001827983] Chr11:1719815..2321109 [GRCh37]
Chr11:11p15.5		 likely pathogenic
NM_032774.1:c.*315A>T single nucleotide variant not provided [RCV002224952] Chr11:1995476 [GRCh38]
Chr11:2016706 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_1278740)_(2906719_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV003113999] Chr11:1278740..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_721044)_(3988932_?)dup duplication not provided [RCV003113442] Chr11:721044..3988932 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:1621232-2228572) copy number gain Beckwith-Wiedemann syndrome [RCV002280763] Chr11:1621232..2228572 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:1980946-2054887)x1 copy number loss not provided [RCV002472519] Chr11:1980946..2054887 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_001400176.1(MRPL23):c.498-9476C>T single nucleotide variant H19-related condition [RCV003400135] Chr11:2002065 [GRCh38]
Chr11:2023295 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001400176.1(MRPL23):c.498-10750C>T single nucleotide variant H19-related condition [RCV003404492] Chr11:2000791 [GRCh38]
Chr11:2022021 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_032774.1:c.*39_*40AC[1] microsatellite not provided [RCV003424764] Chr11:1995749..1995750 [GRCh38]
Chr11:2016979..2016980 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_032774.1:c.-96G>A single nucleotide variant not provided [RCV003885562] Chr11:1996532 [GRCh38]
Chr11:2017762 [GRCh37]
Chr11:11p15.5		 benign
NM_001400176.1(MRPL23):c.498-14374C>T single nucleotide variant H19-related condition [RCV003931737] Chr11:1997167 [GRCh38]
Chr11:2018397 [GRCh37]
Chr11:11p15.5		 benign
NM_032774.1:c.*364G>A single nucleotide variant H19-related condition [RCV003949266] Chr11:1995427 [GRCh38]
Chr11:2016657 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.-659A>G single nucleotide variant H19-related condition [RCV003951419] Chr11:1997095 [GRCh38]
Chr11:2018325 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.113C>T single nucleotide variant H19-related condition [RCV003951482] Chr11:1996133 [GRCh38]
Chr11:2017363 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.*354G>A single nucleotide variant H19-related condition [RCV003959542] Chr11:1995437 [GRCh38]
Chr11:2016667 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001400176.1(MRPL23):c.498-15029del deletion H19-related condition [RCV003954802] Chr11:1996508 [GRCh38]
Chr11:2017738 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.131G>T single nucleotide variant H19-related condition [RCV003977052] Chr11:1996115 [GRCh38]
Chr11:2017345 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.-117G>A single nucleotide variant H19-related condition [RCV003921506] Chr11:1996553 [GRCh38]
Chr11:2017783 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001400176.1(MRPL23):c.498-10486A>G single nucleotide variant H19-related condition [RCV003894329] Chr11:2001055 [GRCh38]
Chr11:2022285 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_001400176.1(MRPL23):c.498-14062C>G single nucleotide variant H19-related condition [RCV003954657] Chr11:1997479 [GRCh38]
Chr11:2018709 [GRCh37]
Chr11:11p15.5		 likely benign
NR_030533.1(MIR675):n.60G>A single nucleotide variant MIR675-related condition [RCV003956854] Chr11:1996772 [GRCh38]
Chr11:2018002 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.-708C>T single nucleotide variant H19-related condition [RCV003916918] Chr11:1997144 [GRCh38]
Chr11:2018374 [GRCh37]
Chr11:11p15.5		 benign
NM_032774.1:c.-229T>C single nucleotide variant H19-related condition [RCV003921920] Chr11:1996665 [GRCh38]
Chr11:2017895 [GRCh37]
Chr11:11p15.5		 benign
NM_032774.1:c.*277T>C single nucleotide variant H19-related condition [RCV003961956] Chr11:1995514 [GRCh38]
Chr11:2016744 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.44C>T single nucleotide variant H19-related condition [RCV003941822] Chr11:1996297 [GRCh38]
Chr11:2017527 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.*304A>T single nucleotide variant H19-related condition [RCV003984713] Chr11:1995487 [GRCh38]
Chr11:2016717 [GRCh37]
Chr11:11p15.5		 benign
NM_032774.1:c.55A>G single nucleotide variant H19-related condition [RCV003954421] Chr11:1996191 [GRCh38]
Chr11:2017421 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001400176.1(MRPL23):c.498-10144T>G single nucleotide variant H19-related condition [RCV003894389] Chr11:2001397 [GRCh38]
Chr11:2022627 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.-478C>T single nucleotide variant H19-related condition [RCV003907382] Chr11:1996914 [GRCh38]
Chr11:2018144 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.119C>T single nucleotide variant H19-related condition [RCV003911642] Chr11:1996127 [GRCh38]
Chr11:2017357 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.-193G>A single nucleotide variant H19-related condition [RCV003981577] Chr11:1996629 [GRCh38]
Chr11:2017859 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001400176.1(MRPL23):c.498-9714C>T single nucleotide variant H19-related condition [RCV003919645] Chr11:2001827 [GRCh38]
Chr11:2023057 [GRCh37]
Chr11:11p15.5		 benign
NM_032774.1:c.-520G>A single nucleotide variant H19-related condition [RCV003944449] Chr11:1996956 [GRCh38]
Chr11:2018186 [GRCh37]
Chr11:11p15.5		 likely benign
NM_032774.1:c.-622C>T single nucleotide variant H19-related condition [RCV003951496] Chr11:1997058 [GRCh38]
Chr11:2018288 [GRCh37]
Chr11:11p15.5		 likely benign
NM_001400176.1(MRPL23):c.498-15110G>A single nucleotide variant H19-related condition [RCV003972055] Chr11:1996431 [GRCh38]
Chr11:2017661 [GRCh37]
Chr11:11p15.5		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4170
Count of miRNA genes:695
Interacting mature miRNAs:832
Transcripts:ENST00000411754, ENST00000411861, ENST00000412788, ENST00000414790, ENST00000417089, ENST00000422826, ENST00000428066, ENST00000431095, ENST00000436715, ENST00000439725, ENST00000442037, ENST00000446406, ENST00000447298
Prediction methods:Miranda, Rnahybrid, Targetscan
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.


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
High 20 1 60 54 1 53 30 27 6 26 65 26 1 3 25 4
Medium 1715 1740 1008 467 340 379 3064 2108 735 308 1009 733 94 1193 2051
Low 638 925 622 98 702 27 1240 33 935 68 343 777 78 1 8 711 2
Below cutoff 60 316 29 3 475 6 19 17 2010 13 32 56 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_002196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_131223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_131224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_185828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_185829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_185830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_185831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC051649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF043430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF125183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL546946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL548405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC115700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE730693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN424819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA443982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC106311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC106315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M32053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000411861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000412788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000414790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,166 - 1,997,843 (-)Ensembl
RefSeq Acc Id: ENST00000417089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,667 (-)Ensembl
RefSeq Acc Id: ENST00000422826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,282 (-)Ensembl
RefSeq Acc Id: ENST00000428066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,174 - 2,001,706 (-)Ensembl
RefSeq Acc Id: ENST00000431095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,706 (-)Ensembl
RefSeq Acc Id: ENST00000436715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,835 (-)Ensembl
RefSeq Acc Id: ENST00000439725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000442037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,836 (-)Ensembl
RefSeq Acc Id: ENST00000447298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,186 (-)Ensembl
RefSeq Acc Id: ENST00000643292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,997,076 - 1,997,875 (-)Ensembl
RefSeq Acc Id: ENST00000691195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000701032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000702588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000710448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,324 (-)Ensembl
RefSeq Acc Id: ENST00000710480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,996,280 (-)Ensembl
RefSeq Acc Id: ENST00000710481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,842 (-)Ensembl
RefSeq Acc Id: ENST00000710482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,701 (-)Ensembl
RefSeq Acc Id: ENST00000710483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,710 (-)Ensembl
RefSeq Acc Id: ENST00000710484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,996,664 (-)Ensembl
RefSeq Acc Id: ENST00000710485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,831 (-)Ensembl
RefSeq Acc Id: ENST00000710488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,997,514 (-)Ensembl
RefSeq Acc Id: ENST00000710489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 1,999,485 (-)Ensembl
RefSeq Acc Id: ENST00000710490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,294 (-)Ensembl
RefSeq Acc Id: ENST00000710491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,295 (-)Ensembl
RefSeq Acc Id: ENST00000710492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,306 (-)Ensembl
RefSeq Acc Id: ENST00000710493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,312 (-)Ensembl
RefSeq Acc Id: ENST00000710495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,266 (-)Ensembl
RefSeq Acc Id: ENST00000710496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,001,383 (-)Ensembl
RefSeq Acc Id: ENST00000710497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl111,995,176 - 2,004,552 (-)Ensembl
RefSeq Acc Id: NR_002196
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 1,997,842 (-)NCBI
GRCh37112,016,406 - 2,019,065 (-)ENTREZGENE
Build 36111,972,982 - 1,975,641 (-)NCBI Archive
HuRef111,807,445 - 1,810,104 (-)ENTREZGENE
CHM1_1112,015,226 - 2,017,925 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,085,519 (-)NCBI
Sequence:
RefSeq Acc Id: NR_131223
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 1,997,842 (-)NCBI
CHM1_1112,015,226 - 2,017,925 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,085,519 (-)NCBI
Sequence:
RefSeq Acc Id: NR_131224
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 2,001,466 (-)NCBI
CHM1_1112,015,226 - 2,021,516 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,089,143 (-)NCBI
Sequence:
RefSeq Acc Id: NR_185828
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 1,997,842 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,085,519 (-)NCBI
RefSeq Acc Id: NR_185829
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 1,997,842 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,085,519 (-)NCBI
RefSeq Acc Id: NR_185830
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 1,997,842 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,085,519 (-)NCBI
RefSeq Acc Id: NR_185831
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,995,176 - 1,997,842 (-)NCBI
T2T-CHM13v2.0112,082,853 - 2,085,519 (-)NCBI
Promoters
RGD ID:6853644
Promoter ID:EP35004
Type:single initiation site
Name:HS_H19
Description:H19 gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 197; Mammalian H19 gene
Experiment Methods:Nuclease protection; experiments performed with closely related; gene; Primer extension; experiments performed with closely related; gene
Regulation:embryo thru fetus, adult skel (repressed by or weakly expressed in) m.
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,975,651 - 1,975,711EPD
RGD ID:6788989
Promoter ID:HG_KWN:11964
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000252900,   ENST00000390168,   OTTHUMT00000034770,   OTTHUMT00000142895,   OTTHUMT00000142897,   OTTHUMT00000142898,   OTTHUMT00000142902,   OTTHUMT00000142906,   OTTHUMT00000142907,   OTTHUMT00000142908,   UC001LUZ.1,   UC001LVB.1,   UC001LVC.1,   UC001LVD.2,   UC001LVE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36111,975,771 - 1,976,271 (-)MPROMDB
RGD ID:7219303
Promoter ID:EPDNEW_H15397
Type:initiation region
Name:H19_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38111,997,845 - 1,997,905EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC H19 COSMIC
Ensembl Genes ENSG00000130600 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000412788 ENTREZGENE
  ENST00000414790 ENTREZGENE
  ENST00000417089 ENTREZGENE
  ENST00000428066 ENTREZGENE
  ENST00000439725 ENTREZGENE
  ENST00000442037 ENTREZGENE
GTEx ENSG00000130600 GTEx
HGNC ID HGNC:4713 ENTREZGENE
Human Proteome Map H19 Human Proteome Map
NCBI Gene 283120 ENTREZGENE
OMIM 103280 OMIM
PharmGKB PA29091 PharmGKB
RNAcentral URS00008121D1 RNACentral
  URS00022B7AAD RNACentral
  URS00025F488D RNACentral
  URS00026A1E43 RNACentral
  URS00026A201F RNACentral
  URS00026A208D RNACentral
  URS00026A25C4 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-22 H19  H19 imprinted maternally expressed transcript  H19  H19, imprinted maternally expressed transcript  Symbol and/or name change 5135510 APPROVED
2018-05-22 H19  H19, imprinted maternally expressed transcript  H19  H19, imprinted maternally expressed transcript (non-protein coding)  Symbol and/or name change 5135510 APPROVED