DLL4 (delta like canonical Notch ligand 4) - Rat Genome Database

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Gene: DLL4 (delta like canonical Notch ligand 4) Homo sapiens
Analyze
Symbol: DLL4
Name: delta like canonical Notch ligand 4
RGD ID: 1320241
HGNC Page HGNC:2910
Description: Enables Notch binding activity and receptor ligand activity. Involved in several processes, including aortic valve morphogenesis; negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis; and negative regulation of cell migration involved in sprouting angiogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Implicated in Adams-Oliver syndrome and limb ischemia. Biomarker of several diseases, including diabetic retinopathy; hemangioblastoma; hemangiopericytoma; renal cell carcinoma; and varicose veins.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AOS6; delta 4; delta ligand 4; delta-like 4 (Drosophila); delta-like 4 homolog; delta-like 4 protein; delta-like protein 4; delta4; drosophila Delta homolog 4; hdelta2; MGC126344; notch ligand delta-2; notch ligand DLL4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381540,929,340 - 40,939,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,929,340 - 40,939,073 (+)EnsemblGRCh38hg38GRCh38
GRCh371541,221,538 - 41,231,271 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361539,008,839 - 39,018,529 (+)NCBINCBI36Build 36hg18NCBI36
Build 341539,008,838 - 39,018,529NCBI
Celera1517,989,410 - 17,999,137 (+)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1518,070,066 - 18,079,793 (+)NCBIHuRef
CHM1_11541,339,420 - 41,349,204 (+)NCBICHM1_1
T2T-CHM13v2.01538,735,323 - 38,745,058 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
BQ 123  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calciol  (ISO)
cannabidiol  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cypermethrin  (EXP,ISO)
DDE  (EXP)
deguelin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
diquat  (ISO)
epoxiconazole  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
methotrexate  (ISO)
methylisothiazolinone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
mono(5-carboxy-2-ethylpentyl) phthalate  (EXP)
octadecanoic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
potassium cyanide  (ISO)
propranolol  (EXP)
prostaglandin F2alpha  (ISO)
pyrimidifen  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
simvastatin  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc dichloride  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA,ISO,ISS)
aortic valve morphogenesis  (IDA)
blood vessel lumenization  (IEA)
blood vessel remodeling  (IEA,ISS)
branching involved in blood vessel morphogenesis  (IEA,ISS)
cardiac atrium morphogenesis  (IEA,ISS)
cardiac ventricle morphogenesis  (IEA,ISS)
cell communication  (IEA)
cell differentiation  (IEA)
cellular response to cholesterol  (ISO)
cellular response to fibroblast growth factor stimulus  (IDA)
cellular response to hypoxia  (ISO)
cellular response to vascular endothelial growth factor stimulus  (IMP)
chondrocyte differentiation  (ISO)
developmental process  (IEA)
dorsal aorta morphogenesis  (IEA,ISS)
luteolysis  (ISO)
negative regulation of blood vessel endothelial cell migration  (IEA,ISO)
negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (IDA)
negative regulation of cell migration involved in sprouting angiogenesis  (IDA,IMP)
negative regulation of cell population proliferation  (IMP)
negative regulation of endothelial cell migration  (IMP)
negative regulation of gene expression  (IDA)
negative regulation of Notch signaling pathway  (IBA,IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
nervous system development  (IEA)
Notch signaling pathway  (IBA,IDA,IEA,ISO,ISS)
pericardium morphogenesis  (IEA,ISS)
positive regulation of gene expression  (IDA)
positive regulation of neural precursor cell proliferation  (IEA,ISS)
positive regulation of Notch signaling pathway  (IEA,ISS)
regulation of neural retina development  (IEA,ISS)
regulation of neurogenesis  (IEA,ISO)
signal transduction  (TAS)
T cell differentiation  (IEA,ISS)
ventral spinal cord interneuron fate commitment  (IMP)
ventricular trabecula myocardium morphogenesis  (IEA,ISS)
visual perception  (IEA)

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IEA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Notch signaling pathway  (EXP,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal metacarpal morphology  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of the lower limb  (IAGP)
Abnormality of the upper limb  (IAGP)
Absent fingernail  (IAGP)
Absent hand  (IAGP)
Absent toe  (IAGP)
Alopecia  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia cutis congenita of scalp  (IAGP)
Aplasia cutis congenita over the scalp vertex  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Aplastic/hypoplastic toenail  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brachydactyly  (IAGP)
Calvarial skull defect  (IAGP)
Cataract  (IAGP)
Cirrhosis  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Congenital localized absence of skin  (IAGP)
Congenital onset  (IAGP)
Cutis marmorata  (IAGP)
EEG abnormality  (IAGP)
Encephalocele  (IAGP)
Erythema  (IAGP)
Esophageal varix  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Finger syndactyly  (IAGP)
Foot oligodactyly  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Hemiparesis  (IAGP)
Hepatic fibrosis  (IAGP)
Hydrocephalus  (IAGP)
Hypertonia  (IAGP)
Hypoplastic fingernail  (IAGP)
Hypoplastic toenails  (IAGP)
Intellectual disability  (IAGP)
Leukopenia  (IAGP)
Microphthalmia  (IAGP)
Periventricular leukomalacia  (IAGP)
Porencephalic cyst  (IAGP)
Portal hypertension  (IAGP)
Premature birth  (IAGP)
Prolonged bleeding time  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary artery atresia  (IAGP)
Renal hypoplasia  (IAGP)
Seizure  (IAGP)
Short distal phalanx of finger  (IAGP)
Skin ulcer  (IAGP)
Sparse hair  (IAGP)
Spinal dysraphism  (IAGP)
Splenomegaly  (IAGP)
Split hand  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Tactile hypersensitivity  (IAGP)
Talipes  (IAGP)
Tetralogy of Fallot  (IAGP)
Thrombocytopenia  (IAGP)
Toe syndactyly  (IAGP)
Tricuspid regurgitation  (IAGP)
Truncus arteriosus  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The Notch Signaling System Is Involved in the Regulation of Reparative Angiogenesis in the Zone of Stasis. Abbas OL, etal., J Burn Care Res. 2017 Nov/Dec;38(6):e923-e933. doi: 10.1097/BCR.0000000000000522.
2. The Notch pathway is a critical regulator of angiogenesis in a skin model of ischemia. Abbas OL, etal., Vasc Med. 2015 Jun;20(3):205-11. doi: 10.1177/1358863X15570723. Epub 2015 Apr 1.
3. Inhibition of delta-like-4-mediated signaling impairs reparative angiogenesis after ischemia. Al Haj Zen A, etal., Circ Res. 2010 Jul 23;107(2):283-93. doi: 10.1161/CIRCRESAHA.110.221663. Epub 2010 May 27.
4. Notch ligand delta-like 4 blockade alleviates experimental autoimmune encephalomyelitis by promoting regulatory T cell development. Bassil R, etal., J Immunol. 2011 Sep 1;187(5):2322-8. doi: 10.4049/jimmunol.1100725. Epub 2011 Aug 3.
5. Delta-like Ligand-4-Notch Signaling Inhibition Regulates Pancreatic Islet Function and Insulin Secretion. Billiard F, etal., Cell Rep. 2018 Jan 23;22(4):895-904. doi: 10.1016/j.celrep.2017.12.076. Epub 2018 Jan 28.
6. Murine Model of Cardiac Defects Observed in Adams-Oliver Syndrome Driven by Delta-Like Ligand-4 Haploinsufficiency. De Zoysa P, etal., Stem Cells Dev. 2021 Jun 15;30(12):611-621. doi: 10.1089/scd.2021.0058. Epub 2021 May 31.
7. Influence of Dll4 via HIF-1α-VEGF signaling on the angiogenesis of choroidal neovascularization under hypoxic conditions. Dong X, etal., PLoS One. 2011 Apr 19;6(4):e18481. doi: 10.1371/journal.pone.0018481.
8. VEGF promotes cartilage angiogenesis by phospho-ERK1/2 activation of Dll4 signaling in temporomandibular joint osteoarthritis caused by chronic sleep disturbance in Wistar rats. Dong Y, etal., Oncotarget. 2017 Mar 14;8(11):17849-17861. doi: 10.18632/oncotarget.14874.
9. Adipose mesenchymal stem cells combined with platelet-rich plasma accelerate diabetic wound healing by modulating the Notch pathway. Ebrahim N, etal., Stem Cell Res Ther. 2021 Jul 13;12(1):392. doi: 10.1186/s13287-021-02454-y.
10. MicroRNA-384-5p Promotes Endothelial Progenitor Cell Proliferation and Angiogenesis in Cerebral Ischemic Stroke through the Delta-Likeligand 4-Mediated Notch Signaling Pathway. Fan J, etal., Cerebrovasc Dis. 2020;49(1):39-54. doi: 10.1159/000503950. Epub 2020 Jan 10.
11. Thalidomide-induced angiopoietin 2, Notch1 and Dll4 downregulation under hypoxic condition in tissues with gastrointestinal vascular malformation and human umbilical vein endothelial cells. Feng Q, etal., J Dig Dis. 2014 Feb;15(2):85-95. doi: 10.1111/1751-2980.12114.
12. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
13. Notch ligand delta-like 4 blockade attenuates atherosclerosis and metabolic disorders. Fukuda D, etal., Proc Natl Acad Sci U S A. 2012 Jul 3;109(27):E1868-77. doi: 10.1073/pnas.1116889109. Epub 2012 Jun 13.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Effect of Notch activation on the regenerative response to acute renal failure. Gupta S, etal., Am J Physiol Renal Physiol. 2010 Jan;298(1):F209-15. doi: 10.1152/ajprenal.00451.2009. Epub 2009 Oct 14.
16. Concomitant genetic defects potentiate the adverse impact of prenatal alcohol exposure on cardiac outflow tract maturation. Harvey DC, etal., Birth Defects Res. 2022 Feb;114(3-4):105-115. doi: 10.1002/bdr2.1968. Epub 2021 Dec 3.
17. Blockade of the sonic hedgehog signalling pathway inhibits choroidal neovascularization in a laser-induced rat model. He H, etal., J Huazhong Univ Sci Technolog Med Sci. 2010 Oct;30(5):659-65. doi: 10.1007/s11596-010-0560-z. Epub 2010 Nov 10.
18. Total Flavonoids in Caragana (TFC) Promotes Angiogenesis and Enhances Cerebral Perfusion in a Rat Model of Ischemic Stroke. He Q, etal., Front Neurosci. 2018 Sep 12;12:635. doi: 10.3389/fnins.2018.00635. eCollection 2018.
19. Expression of vascular notch ligand delta-like 4 and inflammatory markers in breast cancer. Jubb AM, etal., Am J Pathol. 2010 Apr;176(4):2019-28. doi: 10.2353/ajpath.2010.090908. Epub 2010 Feb 18.
20. Analysis of Molecular Mechanism of YiqiChutan Formula Regulating DLL4-Notch Signaling to Inhibit Angiogenesis in Lung Cancer. Li J, etal., Biomed Res Int. 2021 Feb 12;2021:8875503. doi: 10.1155/2021/8875503. eCollection 2021.
21. Xuan Bi Tong Yu Fang Promotes Angiogenesis via VEGF-Notch1/Dll4 Pathway in Myocardial Ischemic Rats. Li S, etal., Evid Based Complement Alternat Med. 2020 Feb 5;2020:5041629. doi: 10.1155/2020/5041629. eCollection 2020.
22. Protective effect of Soluble Epoxide Hydrolase Inhibition in Retinal Vasculopathy associated with Polycystic Kidney Disease. Lin J, etal., Theranostics. 2020 Jun 22;10(17):7857-7871. doi: 10.7150/thno.43154. eCollection 2020.
23. Inhibition of Notch signaling by Dll4-Fc promotes reperfusion of acutely ischemic tissues. Liu R, etal., Biochem Biophys Res Commun. 2012 Feb 3;418(1):173-9. doi: 10.1016/j.bbrc.2012.01.002. Epub 2012 Jan 9.
24. NOTCH1 signaling induces pathological vascular permeability in diabetic retinopathy. Miloudi K, etal., Proc Natl Acad Sci U S A. 2019 Mar 5;116(10):4538-4547. doi: 10.1073/pnas.1814711116. Epub 2019 Feb 20.
25. Delivery of VEGF and delta-like 4 to synergistically regenerate capillaries and arterioles in ischemic limbs. Niu H, etal., Acta Biomater. 2022 Apr 15;143:295-309. doi: 10.1016/j.actbio.2022.03.021. Epub 2022 Mar 14.
26. Blockade of Dll4 inhibits tumour growth by promoting non-productive angiogenesis. Noguera-Troise I, etal., Nature. 2006 Dec 21;444(7122):1032-7. doi: 10.1038/nature05355.
27. Activation of multiple angiogenic signaling pathways in hemangiopericytoma. Pierscianek D, etal., Brain Tumor Pathol. 2016 Jul;33(3):200-8. doi: 10.1007/s10014-016-0256-6. Epub 2016 Mar 7.
28. Study of angiogenic signaling pathways in hemangioblastoma. Pierscianek D, etal., Neuropathology. 2017 Feb;37(1):3-11. doi: 10.1111/neup.12316. Epub 2016 Jul 7.
29. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
30. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
31. Si-Miao-Yong-An on promoting the maturation of Vasa Vasorum and stabilizing atherosclerotic plaque in ApoE-/- mice： An experimental study. Qi Z, etal., Biomed Pharmacother. 2019 Jun;114:108785. doi: 10.1016/j.biopha.2019.108785. Epub 2019 Mar 23.
32. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
34. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
35. BIBF1120 (Vargatef) Inhibits Preretinal Neovascularization and Enhances Normal Vascularization in a Model of Vasoproliferative Retinopathy. Rivera JC, etal., Invest Ophthalmol Vis Sci. 2015 Dec;56(13):7897-907. doi: 10.1167/iovs.15-17146.
36. Downregulation of the endothelial genes Notch1 and ephrinB2 in patients with nodular regenerative hyperplasia. Rothweiler S, etal., Liver Int. 2014 Apr;34(4):594-603. doi: 10.1111/liv.12261. Epub 2013 Jul 21.
37. Gamma-Secretase Inhibitor, DAPT, Prevents the Development of Retinopathy of Prematurity in a Rat Model by Regulating the Delta-Like Ligand 4/Notch Homolog-1 (DLL4/Notch-1) Pathway. Sun W, etal., Med Sci Monit. 2019 Jan 17;25:492-499. doi: 10.12659/MSM.913828.
38. Arterialization and anomalous vein wall remodeling in varicose veins is associated with upregulated FoxC2-Dll4 pathway. Surendran S, etal., Lab Invest. 2016 Apr;96(4):399-408. doi: 10.1038/labinvest.2015.167. Epub 2016 Jan 25.
39. The role of HIF-1, angiopoietin-2, Dll4 and Notch1 in bleeding gastrointestinal vascular malformations and thalidomide-associated actions: a pilot in vivo study. Tan HH, etal., J Dig Dis. 2011 Oct;12(5):349-56. doi: 10.1111/j.1751-2980.2011.00506.x.
40. Reduced Notch1 Cleavage Promotes the Development of Pulmonary Hypertension. Wang S, etal., Hypertension. 2022 Jan;79(1):79-92. doi: 10.1161/HYPERTENSIONAHA.120.16065. Epub 2021 Nov 5.
41. Phase II study of pazopanib as second-line treatment after sunitinib in patients with metastatic renal cell carcinoma: a Southern China Urology Cancer Consortium Trial. Xie M, etal., Eur J Cancer. 2015 Mar;51(5):595-603. doi: 10.1016/j.ejca.2015.01.005. Epub 2015 Jan 21.
42. Chronic DLL4 blockade induces vascular neoplasms. Yan M, etal., Nature. 2010 Feb 11;463(7282):E6-7. doi: 10.1038/nature08751.
43. Activation of the Notch signaling pathway disturbs the CD4+/CD8+, Th17/Treg balance in rats with experimental autoimmune uveitis. Yin X, etal., Inflamm Res. 2019 Sep;68(9):761-774. doi: 10.1007/s00011-019-01260-w. Epub 2019 Jun 17.
44. Olmesartan attenuates cardiac remodeling through DLL4/Notch1 pathway activation in pressure overload mice. You J, etal., J Cardiovasc Pharmacol. 2013 Feb;61(2):142-51. doi: 10.1097/FJC.0b013e31827a0278.
45. Triggering of a Dll4-Notch1 loop impairs wound healing in diabetes. Zheng X, etal., Proc Natl Acad Sci U S A. 2019 Apr 2;116(14):6985-6994. doi: 10.1073/pnas.1900351116. Epub 2019 Mar 18.
46. Sema3E/PlexinD1 signaling inhibits postischemic angiogenesis by regulating endothelial DLL4 and filopodia formation in a rat model of ischemic stroke. Zhou YF, etal., FASEB J. 2019 Apr;33(4):4947-4961. doi: 10.1096/fj.201801706RR. Epub 2019 Jan 17.
47. Correlation of serum delta-like ligand-4 level with the severity of diabetic retinopathy. Zhu Y, etal., BMC Endocr Disord. 2021 Aug 6;21(1):157. doi: 10.1186/s12902-021-00814-6.
Additional References at PubMed
PMID:10837024   PMID:11134954   PMID:11739188   PMID:11798067   PMID:12200365   PMID:12477932   PMID:12482957   PMID:12684674   PMID:12814948   PMID:12975309   PMID:14990974   PMID:15340161  
PMID:15489334   PMID:15820317   PMID:16204037   PMID:16344560   PMID:16914569   PMID:17157169   PMID:17533181   PMID:17664272   PMID:17692341   PMID:17728344   PMID:17822320   PMID:17916635  
PMID:17998388   PMID:18055448   PMID:18056450   PMID:18339870   PMID:18435556   PMID:18577711   PMID:19208840   PMID:19263417   PMID:19816565   PMID:20036815   PMID:20167561   PMID:20182391  
PMID:20193271   PMID:20558614   PMID:20616313   PMID:20959466   PMID:21045140   PMID:21212269   PMID:21362319   PMID:21362320   PMID:21372153   PMID:21474814   PMID:21517260   PMID:21726900  
PMID:21832157   PMID:21873635   PMID:22010178   PMID:22020917   PMID:22066479   PMID:22296176   PMID:22589738   PMID:23086751   PMID:23108591   PMID:23207622   PMID:23239744   PMID:23275120  
PMID:23300864   PMID:23388056   PMID:23787764   PMID:23817492   PMID:23839946   PMID:23898884   PMID:23901223   PMID:23950980   PMID:24025398   PMID:24025447   PMID:24394305   PMID:24504253  
PMID:24615277   PMID:24696220   PMID:24931473   PMID:24949865   PMID:24966922   PMID:25041739   PMID:25130545   PMID:25139440   PMID:25260720   PMID:25348865   PMID:25355291   PMID:25833803  
PMID:25986715   PMID:26062426   PMID:26070613   PMID:26111775   PMID:26212082   PMID:26241546   PMID:26299364   PMID:26404485   PMID:26471266   PMID:26472724   PMID:26491108   PMID:26546434  
PMID:26546995   PMID:26712946   PMID:26739060   PMID:26870802   PMID:26957058   PMID:27073072   PMID:27077170   PMID:27117596   PMID:27171900   PMID:27174628   PMID:27334972   PMID:27440153  
PMID:27487663   PMID:27542210   PMID:27755532   PMID:27891816   PMID:27919854   PMID:27926858   PMID:28445154   PMID:28472949   PMID:28572448   PMID:28946938   PMID:29042443   PMID:29686270  
PMID:29749499   PMID:30205087   PMID:30226615   PMID:30228780   PMID:30607695   PMID:30660174   PMID:30930165   PMID:31578584   PMID:31676012   PMID:31984546   PMID:31996265   PMID:32506201  
PMID:32580836   PMID:32694731   PMID:32801053   PMID:32990541   PMID:33351914   PMID:33469672   PMID:33830085   PMID:34408144   PMID:34487019   PMID:35289275   PMID:35725756   PMID:36167746  
PMID:36709913   PMID:36740988   PMID:36924232   PMID:37137436   PMID:37971882   PMID:38346959   PMID:38973459   PMID:39167432   PMID:39390606  


Genomics

Comparative Map Data
DLL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381540,929,340 - 40,939,073 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1540,929,340 - 40,939,073 (+)EnsemblGRCh38hg38GRCh38
GRCh371541,221,538 - 41,231,271 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361539,008,839 - 39,018,529 (+)NCBINCBI36Build 36hg18NCBI36
Build 341539,008,838 - 39,018,529NCBI
Celera1517,989,410 - 17,999,137 (+)NCBICelera
Cytogenetic Map15q15.1NCBI
HuRef1518,070,066 - 18,079,793 (+)NCBIHuRef
CHM1_11541,339,420 - 41,349,204 (+)NCBICHM1_1
T2T-CHM13v2.01538,735,323 - 38,745,058 (+)NCBIT2T-CHM13v2.0
Dll4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392119,156,286 - 119,166,145 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2119,156,265 - 119,166,443 (+)EnsemblGRCm39 Ensembl
GRCm382119,325,784 - 119,335,666 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2119,325,784 - 119,335,962 (+)EnsemblGRCm38mm10GRCm38
MGSCv372119,151,520 - 119,161,402 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362119,017,270 - 119,027,097 (+)NCBIMGSCv36mm8
Celera2120,476,206 - 120,486,045 (+)NCBICelera
Cytogenetic Map2E5NCBI
cM Map259.97NCBI
Dll4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83126,770,945 - 126,780,769 (+)NCBIGRCr8
mRatBN7.23106,317,114 - 106,327,004 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3106,316,986 - 106,326,931 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3109,990,303 - 110,000,143 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03118,585,843 - 118,595,685 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03116,246,228 - 116,256,068 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03111,135,011 - 111,146,746 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3111,135,021 - 111,145,986 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03117,685,724 - 117,695,772 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43105,844,671 - 105,854,738 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13105,741,099 - 105,750,240 (+)NCBI
Celera3105,230,387 - 105,240,148 (+)NCBICelera
Cytogenetic Map3q35NCBI
Dll4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554167,807,049 - 7,817,420 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554167,807,049 - 7,816,346 (+)NCBIChiLan1.0ChiLan1.0
DLL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21630,171,696 - 30,182,800 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11534,323,041 - 34,334,142 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01519,871,584 - 19,881,817 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11538,121,238 - 38,130,950 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1538,121,574 - 38,129,471 (+)Ensemblpanpan1.1panPan2
DLL4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1308,059,463 - 8,068,742 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl308,059,512 - 8,067,940 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha308,114,087 - 8,123,649 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0308,188,070 - 8,197,632 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl308,185,217 - 8,197,617 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1308,111,270 - 8,120,832 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0308,217,668 - 8,227,235 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0308,349,053 - 8,358,618 (+)NCBIUU_Cfam_GSD_1.0
Dll4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864086,472,876 - 86,482,195 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364714,320,933 - 4,330,253 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364714,320,235 - 4,330,251 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DLL4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1130,376,721 - 130,386,411 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11130,376,720 - 130,386,411 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21145,539,044 - 145,548,860 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DLL4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12642,056,473 - 42,066,283 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2642,056,331 - 42,065,828 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604898,919,102 - 98,929,217 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dll4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248048,179,731 - 8,191,284 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248048,179,729 - 8,189,001 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DLL4
234 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_019074.4(DLL4):c.1109C>G (p.Pro370Arg) single nucleotide variant not provided [RCV000722295] Chr15:40934986 [GRCh38]
Chr15:41227184 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) single nucleotide variant Adams-Oliver syndrome 6 [RCV000662243] Chr15:40936297 [GRCh38]
Chr15:41228495 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) single nucleotide variant Adams-Oliver syndrome 6 [RCV000662244] Chr15:40936384 [GRCh38]
Chr15:41228582 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.265_267del (p.Phe89del) deletion Adams-Oliver syndrome 6 [RCV000662258] Chr15:40930044..40930046 [GRCh38]
Chr15:41222242..41222244 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1240+5G>C single nucleotide variant Adams-Oliver syndrome 6 [RCV000662260] Chr15:40935122 [GRCh38]
Chr15:41227320 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) single nucleotide variant Adams-Oliver syndrome 6 [RCV000195290]|Adams-Oliver syndrome [RCV000190435] Chr15:40936659 [GRCh38]
Chr15:41228857 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) single nucleotide variant Adams-Oliver syndrome 6 [RCV000195286]|Adams-Oliver syndrome [RCV000190434] Chr15:40936647 [GRCh38]
Chr15:41228845 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) single nucleotide variant Adams-Oliver syndrome [RCV000190436] Chr15:40936352 [GRCh38]
Chr15:41228550 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) single nucleotide variant Adams-Oliver syndrome 6 [RCV000195288]|Adams-Oliver syndrome [RCV000190437] Chr15:40935046 [GRCh38]
Chr15:41227244 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) single nucleotide variant Adams-Oliver syndrome 6 [RCV000195284]|Adams-Oliver syndrome [RCV000190438] Chr15:40935045 [GRCh38]
Chr15:41227243 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) single nucleotide variant Adams-Oliver syndrome 6 [RCV000195285]|Adams-Oliver syndrome [RCV000190439]|DLL4-related disorder [RCV004730899] Chr15:40931664 [GRCh38]
Chr15:41223862 [GRCh37]
Chr15:15q15.1		 pathogenic|likely pathogenic
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) single nucleotide variant Adams-Oliver syndrome 6 [RCV000662259]|Adams-Oliver syndrome [RCV000190440] Chr15:40932396 [GRCh38]
Chr15:41224594 [GRCh37]
Chr15:15q15.1		 pathogenic|uncertain significance|no classifications from unflagged records
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) single nucleotide variant Adams-Oliver syndrome 6 [RCV000195289]|Adams-Oliver syndrome [RCV000190441] Chr15:40930649 [GRCh38]
Chr15:41222847 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) single nucleotide variant Adams-Oliver syndrome [RCV000190442] Chr15:40931691 [GRCh38]
Chr15:41223889 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1944-86C>A single nucleotide variant not provided [RCV001545769] Chr15:40937332 [GRCh38]
Chr15:41229530 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.336+6C>T single nucleotide variant not provided [RCV001765777] Chr15:40930122 [GRCh38]
Chr15:41222320 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1679_1689del (p.Pro560fs) deletion Inborn genetic diseases [RCV000624101] Chr15:40936659..40936669 [GRCh38]
Chr15:41228857..41228867 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs) deletion Adams-Oliver syndrome 6 [RCV001194629] Chr15:40936838..40936845 [GRCh38]
Chr15:41229036..41229043 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1508_1510del (p.Thr503_Phe504delinsIle) deletion not provided [RCV000723138] Chr15:40936495..40936497 [GRCh38]
Chr15:41228693..41228695 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_019074.4(DLL4):c.1899C>G (p.His633Gln) single nucleotide variant Inborn genetic diseases [RCV003274517] Chr15:40936886 [GRCh38]
Chr15:41229084 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant complex Spindle cell sarcoma [RCV000714282] Chr15:34640169..42054561 [GRCh37]
Chr15:15q14-15.1		 pathogenic
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) single nucleotide variant Adams-Oliver syndrome 6 [RCV000662242] Chr15:40934646 [GRCh38]
Chr15:41226844 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) single nucleotide variant Adams-Oliver syndrome 6 [RCV000662234] Chr15:40936812 [GRCh38]
Chr15:41229010 [GRCh37]
Chr15:15q15.1		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_019074.4(DLL4):c.*304C>T single nucleotide variant not provided [RCV001577129] Chr15:40938338 [GRCh38]
Chr15:41230536 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.534C>T (p.Asn178=) single nucleotide variant not provided [RCV000920898] Chr15:40931642 [GRCh38]
Chr15:41223840 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.897G>A (p.Thr299=) single nucleotide variant DLL4-related disorder [RCV003910721]|not provided [RCV000899654] Chr15:40934594 [GRCh38]
Chr15:41226792 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.1074T>C (p.His358=) single nucleotide variant not provided [RCV000971304] Chr15:40934951 [GRCh38]
Chr15:41227149 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.369C>T (p.His123=) single nucleotide variant not provided [RCV000906613] Chr15:40930657 [GRCh38]
Chr15:41222855 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.672G>A (p.Ser224=) single nucleotide variant DLL4-related disorder [RCV003910462]|not provided [RCV000885077] Chr15:40932184 [GRCh38]
Chr15:41224382 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.743G>A (p.Arg248Gln) single nucleotide variant Inborn genetic diseases [RCV002539290]|not provided [RCV000880000] Chr15:40932340 [GRCh38]
Chr15:41224538 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1329C>T (p.Asp443=) single nucleotide variant not provided [RCV000897928] Chr15:40936316 [GRCh38]
Chr15:41228514 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.582C>T (p.His194=) single nucleotide variant not provided [RCV000919224] Chr15:40931690 [GRCh38]
Chr15:41223888 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.337-10C>T single nucleotide variant not provided [RCV000917832] Chr15:40930615 [GRCh38]
Chr15:41222813 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1728G>A (p.Lys576=) single nucleotide variant not provided [RCV000976599] Chr15:40936715 [GRCh38]
Chr15:41228913 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1347C>T (p.Cys449=) single nucleotide variant not provided [RCV000914032] Chr15:40936334 [GRCh38]
Chr15:41228532 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.762C>T (p.Ile254=) single nucleotide variant not provided [RCV000898153] Chr15:40932359 [GRCh38]
Chr15:41224557 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter) single nucleotide variant Adams-Oliver syndrome 6 [RCV000985148] Chr15:40936379 [GRCh38]
Chr15:41228577 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.384C>A (p.Asp128Glu) single nucleotide variant Inborn genetic diseases [RCV003268972] Chr15:40930672 [GRCh38]
Chr15:41222870 [GRCh37]
Chr15:15q15.1		 likely benign
NC_000015.10:g.40929184G>A single nucleotide variant not provided [RCV001550805] Chr15:40929184 [GRCh38]
Chr15:41221382 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1021-46C>T single nucleotide variant not provided [RCV001615798] Chr15:40934852 [GRCh38]
Chr15:41227050 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.336+173G>C single nucleotide variant not provided [RCV001715443] Chr15:40930289 [GRCh38]
Chr15:41222487 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1561G>A (p.Val521Met) single nucleotide variant not provided [RCV000885402] Chr15:40936548 [GRCh38]
Chr15:41228746 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.156C>T (p.Pro52=) single nucleotide variant not provided [RCV000896199] Chr15:40929936 [GRCh38]
Chr15:41222134 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.720-10T>C single nucleotide variant not provided [RCV000896330] Chr15:40932307 [GRCh38]
Chr15:41224505 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1158T>C (p.Tyr386=) single nucleotide variant not provided [RCV000917432] Chr15:40935035 [GRCh38]
Chr15:41227233 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.516G>C (p.Arg172=) single nucleotide variant DLL4-related disorder [RCV003958298]|not provided [RCV000909580] Chr15:40931624 [GRCh38]
Chr15:41223822 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.499C>T (p.Leu167=) single nucleotide variant not provided [RCV000913596] Chr15:40931607 [GRCh38]
Chr15:41223805 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1386C>T (p.Leu462=) single nucleotide variant DLL4-related disorder [RCV003970393]|not provided [RCV000913425] Chr15:40936373 [GRCh38]
Chr15:41228571 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.2034A>G (p.Glu678=) single nucleotide variant not provided [RCV000912283] Chr15:40937508 [GRCh38]
Chr15:41229706 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1005T>C (p.Asn335=) single nucleotide variant not provided [RCV000890548] Chr15:40934702 [GRCh38]
Chr15:41226900 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.-105C>G single nucleotide variant not provided [RCV001556348] Chr15:40929564 [GRCh38]
Chr15:41221762 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.659-77C>T single nucleotide variant not provided [RCV001677702] Chr15:40932094 [GRCh38]
Chr15:41224292 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1239C>T (p.Asn413=) single nucleotide variant not provided [RCV001564818] Chr15:40935116 [GRCh38]
Chr15:41227314 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.851-209dup duplication not provided [RCV001598973] Chr15:40934323..40934324 [GRCh38]
Chr15:41226521..41226522 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.2053-170G>A single nucleotide variant not provided [RCV001548383] Chr15:40937859 [GRCh38]
Chr15:41230057 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.658+160G>A single nucleotide variant not provided [RCV001709973] Chr15:40931926 [GRCh38]
Chr15:41224124 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.659-89G>T single nucleotide variant not provided [RCV001693853] Chr15:40932082 [GRCh38]
Chr15:41224280 [GRCh37]
Chr15:15q15.1		 benign
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_019074.4(DLL4):c.1336C>A (p.Arg446Ser) single nucleotide variant not specified [RCV001260296] Chr15:40936323 [GRCh38]
Chr15:41228521 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.895A>G (p.Thr299Ala) single nucleotide variant not provided [RCV002002066] Chr15:40934592 [GRCh38]
Chr15:41226790 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.469T>C (p.Leu157=) single nucleotide variant not provided [RCV001422930] Chr15:40931577 [GRCh38]
Chr15:41223775 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.875C>T (p.Ser292Phe) single nucleotide variant not provided [RCV001354348] Chr15:40934572 [GRCh38]
Chr15:41226770 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.82G>C (p.Gly28Arg) single nucleotide variant Adams-Oliver syndrome 6 [RCV001526864] Chr15:40929862 [GRCh38]
Chr15:41222060 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.67-20C>T single nucleotide variant not provided [RCV001518987] Chr15:40929827 [GRCh38]
Chr15:41222025 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.66+55C>T single nucleotide variant not provided [RCV001581481] Chr15:40929789 [GRCh38]
Chr15:41221987 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.851-307G>A single nucleotide variant not provided [RCV001681349] Chr15:40934241 [GRCh38]
Chr15:41226439 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.647A>G (p.Tyr216Cys) single nucleotide variant not provided [RCV001760850] Chr15:40931755 [GRCh38]
Chr15:41223953 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.305C>A (p.Pro102His) single nucleotide variant not provided [RCV001771541] Chr15:40930085 [GRCh38]
Chr15:41222283 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1658G>A (p.Arg553Gln) single nucleotide variant Inborn genetic diseases [RCV004040149]|not provided [RCV001772453] Chr15:40936645 [GRCh38]
Chr15:41228843 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.784G>A (p.Gly262Ser) single nucleotide variant Adams-Oliver syndrome 6 [RCV001775302] Chr15:40932381 [GRCh38]
Chr15:41224579 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.1229C>T (p.Pro410Leu) single nucleotide variant not provided [RCV001769132] Chr15:40935106 [GRCh38]
Chr15:41227304 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.851-209del deletion not provided [RCV001797471] Chr15:40934324 [GRCh38]
Chr15:41226522 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1001G>A (p.Arg334His) single nucleotide variant not provided [RCV001948750] Chr15:40934698 [GRCh38]
Chr15:41226896 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.488C>G (p.Thr163Ser) single nucleotide variant not provided [RCV001930004] Chr15:40931596 [GRCh38]
Chr15:41223794 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1280G>A (p.Arg427His) single nucleotide variant not provided [RCV001896639] Chr15:40936267 [GRCh38]
Chr15:41228465 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.937C>T (p.Arg313Cys) single nucleotide variant Inborn genetic diseases [RCV002642182]|not provided [RCV002025677] Chr15:40934634 [GRCh38]
Chr15:41226832 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1291G>A (p.Gly431Arg) single nucleotide variant not provided [RCV001874787] Chr15:40936278 [GRCh38]
Chr15:41228476 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q15.1(chr15:41194121-41452728) copy number gain not specified [RCV002052464] Chr15:41194121..41452728 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1870C>T (p.Arg624Trp) single nucleotide variant Inborn genetic diseases [RCV002561509]|not provided [RCV001984742] Chr15:40936857 [GRCh38]
Chr15:41229055 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.1337G>A (p.Arg446His) single nucleotide variant not provided [RCV002041446] Chr15:40936324 [GRCh38]
Chr15:41228522 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.631G>A (p.Gly211Ser) single nucleotide variant not provided [RCV001984341] Chr15:40931739 [GRCh38]
Chr15:41223937 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1873G>A (p.Gly625Arg) single nucleotide variant Inborn genetic diseases [RCV002552295]|not provided [RCV001892001] Chr15:40936860 [GRCh38]
Chr15:41229058 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.381C>A (p.Asp127Glu) single nucleotide variant not provided [RCV001919024] Chr15:40930669 [GRCh38]
Chr15:41222867 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.430G>A (p.Ala144Thr) single nucleotide variant not provided [RCV001943984] Chr15:40931538 [GRCh38]
Chr15:41223736 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1064A>G (p.Tyr355Cys) single nucleotide variant not provided [RCV001944712] Chr15:40934941 [GRCh38]
Chr15:41227139 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.59G>T (p.Trp20Leu) single nucleotide variant not provided [RCV001960803] Chr15:40929727 [GRCh38]
Chr15:41221925 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1421G>A (p.Arg474His) single nucleotide variant not provided [RCV001906026] Chr15:40936408 [GRCh38]
Chr15:41228606 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.382G>A (p.Asp128Asn) single nucleotide variant Adams-Oliver syndrome 6 [RCV002482398]|Inborn genetic diseases [RCV002543459]|not provided [RCV002037444] Chr15:40930670 [GRCh38]
Chr15:41222868 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.742C>T (p.Arg248Trp) single nucleotide variant not provided [RCV002035687] Chr15:40932339 [GRCh38]
Chr15:41224537 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1270C>A (p.Arg424Ser) single nucleotide variant Inborn genetic diseases [RCV004043339]|not provided [RCV001943021] Chr15:40936257 [GRCh38]
Chr15:41228455 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.557G>A (p.Arg186His) single nucleotide variant not provided [RCV001979189] Chr15:40931665 [GRCh38]
Chr15:41223863 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.671C>T (p.Ser224Leu) single nucleotide variant not provided [RCV002014389] Chr15:40932183 [GRCh38]
Chr15:41224381 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1895C>T (p.Pro632Leu) single nucleotide variant not provided [RCV001995091] Chr15:40936882 [GRCh38]
Chr15:41229080 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1321G>A (p.Val441Ile) single nucleotide variant Inborn genetic diseases [RCV002557785]|not provided [RCV001952072] Chr15:40936308 [GRCh38]
Chr15:41228506 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.482C>G (p.Thr161Ser) single nucleotide variant not provided [RCV001902648] Chr15:40931590 [GRCh38]
Chr15:41223788 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.472G>A (p.Asp158Asn) single nucleotide variant not provided [RCV001903438] Chr15:40931580 [GRCh38]
Chr15:41223778 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1670T>G (p.Leu557Arg) single nucleotide variant not provided [RCV002030668] Chr15:40936657 [GRCh38]
Chr15:41228855 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.55C>T (p.Leu19Phe) single nucleotide variant Inborn genetic diseases [RCV004611902]|not provided [RCV001867233] Chr15:40929723 [GRCh38]
Chr15:41221921 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.1933C>T (p.Arg645Trp) single nucleotide variant not provided [RCV002015303] Chr15:40936920 [GRCh38]
Chr15:41229118 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.979G>A (p.Glu327Lys) single nucleotide variant not provided [RCV002012104] Chr15:40934676 [GRCh38]
Chr15:41226874 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.470T>C (p.Leu157Ser) single nucleotide variant not provided [RCV001870253] Chr15:40931578 [GRCh38]
Chr15:41223776 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.926C>T (p.Thr309Ile) single nucleotide variant Inborn genetic diseases [RCV004612091]|not provided [RCV001996332] Chr15:40934623 [GRCh38]
Chr15:41226821 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV001877125] Chr15:40929673 [GRCh38]
Chr15:41221871 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1683C>G (p.Asp561Glu) single nucleotide variant not provided [RCV001902536] Chr15:40936670 [GRCh38]
Chr15:41228868 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1132C>T (p.Arg378Trp) single nucleotide variant not provided [RCV001919431] Chr15:40935009 [GRCh38]
Chr15:41227207 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.67-10T>C single nucleotide variant not provided [RCV001977641] Chr15:40929837 [GRCh38]
Chr15:41222035 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.1326C>T (p.Ser442=) single nucleotide variant not provided [RCV002110302] Chr15:40936313 [GRCh38]
Chr15:41228511 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1431G>A (p.Val477=) single nucleotide variant not provided [RCV002128529] Chr15:40936418 [GRCh38]
Chr15:41228616 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.68G>A (p.Arg23His) single nucleotide variant Inborn genetic diseases [RCV004612134]|not provided [RCV002091466] Chr15:40929848 [GRCh38]
Chr15:41222046 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1209G>A (p.Val403=) single nucleotide variant not provided [RCV002192362] Chr15:40935086 [GRCh38]
Chr15:41227284 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1020+14C>T single nucleotide variant not provided [RCV002124458] Chr15:40934731 [GRCh38]
Chr15:41226929 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.938G>A (p.Arg313His) single nucleotide variant DLL4-related disorder [RCV003941346]|Inborn genetic diseases [RCV002562281]|not provided [RCV002209103] Chr15:40934635 [GRCh38]
Chr15:41226833 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.891G>T (p.Gly297=) single nucleotide variant not provided [RCV002085026] Chr15:40934588 [GRCh38]
Chr15:41226786 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.658+10C>G single nucleotide variant not provided [RCV002152453] Chr15:40931776 [GRCh38]
Chr15:41223974 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.337-20C>T single nucleotide variant not provided [RCV002080797] Chr15:40930605 [GRCh38]
Chr15:41222803 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.969G>A (p.Leu323=) single nucleotide variant not provided [RCV002151680] Chr15:40934666 [GRCh38]
Chr15:41226864 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.398C>A (p.Ala133Asp) single nucleotide variant not provided [RCV002152633] Chr15:40931506 [GRCh38]
Chr15:41223704 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.337-6del deletion not provided [RCV002172877] Chr15:40930617 [GRCh38]
Chr15:41222815 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.395-18G>C single nucleotide variant not provided [RCV002086699] Chr15:40931485 [GRCh38]
Chr15:41223683 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.395-19C>T single nucleotide variant not provided [RCV002193020] Chr15:40931484 [GRCh38]
Chr15:41223682 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.336+17C>T single nucleotide variant not provided [RCV002113998] Chr15:40930133 [GRCh38]
Chr15:41222331 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1413T>C (p.Ser471=) single nucleotide variant not provided [RCV002145314] Chr15:40936400 [GRCh38]
Chr15:41228598 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.522C>T (p.Ile174=) single nucleotide variant not provided [RCV002181458] Chr15:40931630 [GRCh38]
Chr15:41223828 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.39A>T (p.Leu13=) single nucleotide variant DLL4-related disorder [RCV003958728]|not provided [RCV002122785] Chr15:40929707 [GRCh38]
Chr15:41221905 [GRCh37]
Chr15:15q15.1		 benign|likely benign
NM_019074.4(DLL4):c.2052+18C>T single nucleotide variant not provided [RCV002153950] Chr15:40937544 [GRCh38]
Chr15:41229742 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1353C>T (p.His451=) single nucleotide variant not provided [RCV002135947] Chr15:40936340 [GRCh38]
Chr15:41228538 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.708A>C (p.Pro236=) single nucleotide variant not provided [RCV002219267] Chr15:40932220 [GRCh38]
Chr15:41224418 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1943+18G>T single nucleotide variant not provided [RCV002141159] Chr15:40936948 [GRCh38]
Chr15:41229146 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.395-6C>T single nucleotide variant not provided [RCV002178728] Chr15:40931497 [GRCh38]
Chr15:41223695 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1971G>A (p.Ala657=) single nucleotide variant not provided [RCV002217225] Chr15:40937445 [GRCh38]
Chr15:41229643 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1871G>A (p.Arg624Gln) single nucleotide variant not provided [RCV003115250] Chr15:40936858 [GRCh38]
Chr15:41229056 [GRCh37]
Chr15:15q15.1		 uncertain significance
NC_000015.9:g.(?_40987528)_(41230232_?)dup duplication not provided [RCV003113134] Chr15:40987528..41230232 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.441C>G (p.Gly147=) single nucleotide variant not provided [RCV003112567] Chr15:40931549 [GRCh38]
Chr15:41223747 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1197C>T (p.Cys399=) single nucleotide variant not provided [RCV003112984] Chr15:40935074 [GRCh38]
Chr15:41227272 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1143C>G (p.Asn381Lys) single nucleotide variant not provided [RCV003093971]|not specified [RCV002247774] Chr15:40935020 [GRCh38]
Chr15:41227218 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1396T>C (p.Cys466Arg) single nucleotide variant Adams-Oliver syndrome 6 [RCV003236682] Chr15:40936383 [GRCh38]
Chr15:41228581 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.200C>T (p.Ala67Val) single nucleotide variant not provided [RCV002287018] Chr15:40929980 [GRCh38]
Chr15:41222178 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.2012T>C (p.Leu671Ser) single nucleotide variant not provided [RCV002300098] Chr15:40937486 [GRCh38]
Chr15:41229684 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1734C>T (p.Asn578=) single nucleotide variant not provided [RCV002614152] Chr15:40936721 [GRCh38]
Chr15:41228919 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.353del (p.Ile118fs) deletion not provided [RCV003033748] Chr15:40930641 [GRCh38]
Chr15:41222839 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.297G>C (p.Gly99=) single nucleotide variant not provided [RCV002996720] Chr15:40930077 [GRCh38]
Chr15:41222275 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.661A>G (p.Ile221Val) single nucleotide variant Inborn genetic diseases [RCV002689742] Chr15:40932173 [GRCh38]
Chr15:41224371 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1186G>A (p.Gly396Ser) single nucleotide variant Inborn genetic diseases [RCV002968017]|not provided [RCV002979002] Chr15:40935063 [GRCh38]
Chr15:41227261 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.1336C>T (p.Arg446Cys) single nucleotide variant not provided [RCV002751631] Chr15:40936323 [GRCh38]
Chr15:41228521 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.205G>T (p.Val69Phe) single nucleotide variant Inborn genetic diseases [RCV002969807]|not provided [RCV003108203] Chr15:40929985 [GRCh38]
Chr15:41222183 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.1747G>T (p.Ala583Ser) single nucleotide variant not provided [RCV003015099] Chr15:40936734 [GRCh38]
Chr15:41228932 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1154A>C (p.Asn385Thr) single nucleotide variant not provided [RCV002967852] Chr15:40935031 [GRCh38]
Chr15:41227229 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1102G>A (p.Asp368Asn) single nucleotide variant DLL4-related disorder [RCV003395632]|Inborn genetic diseases [RCV002687026] Chr15:40934979 [GRCh38]
Chr15:41227177 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1707C>T (p.Asn569=) single nucleotide variant not provided [RCV002740398] Chr15:40936694 [GRCh38]
Chr15:41228892 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1683C>T (p.Asp561=) single nucleotide variant not provided [RCV002620569] Chr15:40936670 [GRCh38]
Chr15:41228868 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.978C>T (p.Ser326=) single nucleotide variant not provided [RCV002640492] Chr15:40934675 [GRCh38]
Chr15:41226873 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.595G>C (p.Val199Leu) single nucleotide variant not provided [RCV002639600] Chr15:40931703 [GRCh38]
Chr15:41223901 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.2049G>A (p.Thr683=) single nucleotide variant not provided [RCV002590420] Chr15:40937523 [GRCh38]
Chr15:41229721 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1572G>A (p.Pro524=) single nucleotide variant not provided [RCV002800153] Chr15:40936559 [GRCh38]
Chr15:41228757 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1020+15A>C single nucleotide variant not provided [RCV002760821] Chr15:40934732 [GRCh38]
Chr15:41226930 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1106C>A (p.Ser369Tyr) single nucleotide variant Inborn genetic diseases [RCV003001435] Chr15:40934983 [GRCh38]
Chr15:41227181 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.576T>C (p.Asn192=) single nucleotide variant not provided [RCV002658548] Chr15:40931684 [GRCh38]
Chr15:41223882 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1138C>T (p.Arg380Cys) single nucleotide variant not provided [RCV002926780] Chr15:40935015 [GRCh38]
Chr15:41227213 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.753C>T (p.Asn251=) single nucleotide variant not provided [RCV002913559] Chr15:40932350 [GRCh38]
Chr15:41224548 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1668G>T (p.Arg556=) single nucleotide variant not provided [RCV002820452] Chr15:40936655 [GRCh38]
Chr15:41228853 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1836A>T (p.Thr612=) single nucleotide variant not provided [RCV002953193] Chr15:40936823 [GRCh38]
Chr15:41229021 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1025A>G (p.Gln342Arg) single nucleotide variant not provided [RCV003079187] Chr15:40934902 [GRCh38]
Chr15:41227100 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.720-9G>C single nucleotide variant not provided [RCV002820760] Chr15:40932308 [GRCh38]
Chr15:41224506 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.2052+15C>T single nucleotide variant not provided [RCV002626250] Chr15:40937541 [GRCh38]
Chr15:41229739 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.659-20G>C single nucleotide variant not provided [RCV003043492] Chr15:40932151 [GRCh38]
Chr15:41224349 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.720-16C>G single nucleotide variant not provided [RCV002645601] Chr15:40932301 [GRCh38]
Chr15:41224499 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1458G>A (p.Ser486=) single nucleotide variant not provided [RCV002642542] Chr15:40936445 [GRCh38]
Chr15:41228643 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.595G>A (p.Val199Met) single nucleotide variant not provided [RCV002594355] Chr15:40931703 [GRCh38]
Chr15:41223901 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1134G>C (p.Arg378=) single nucleotide variant not provided [RCV002596039] Chr15:40935011 [GRCh38]
Chr15:41227209 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1072C>T (p.His358Tyr) single nucleotide variant Inborn genetic diseases [RCV002826906] Chr15:40934949 [GRCh38]
Chr15:41227147 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.12G>A (p.Ala4=) single nucleotide variant not provided [RCV003024371] Chr15:40929680 [GRCh38]
Chr15:41221878 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1320C>T (p.His440=) single nucleotide variant DLL4-related disorder [RCV003963681]|not provided [RCV002596040] Chr15:40936307 [GRCh38]
Chr15:41228505 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1961G>A (p.Arg654Gln) single nucleotide variant not provided [RCV002786350] Chr15:40937435 [GRCh38]
Chr15:41229633 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.293G>C (p.Gly98Ala) single nucleotide variant Inborn genetic diseases [RCV002764104] Chr15:40930073 [GRCh38]
Chr15:41222271 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1433G>A (p.Arg478Gln) single nucleotide variant not provided [RCV002982527] Chr15:40936420 [GRCh38]
Chr15:41228618 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.204C>A (p.Val68=) single nucleotide variant not provided [RCV002791831] Chr15:40929984 [GRCh38]
Chr15:41222182 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.2053-13C>T single nucleotide variant not provided [RCV002600884] Chr15:40938016 [GRCh38]
Chr15:41230214 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1327G>A (p.Asp443Asn) single nucleotide variant not provided [RCV003090430] Chr15:40936314 [GRCh38]
Chr15:41228512 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1873G>C (p.Gly625Arg) single nucleotide variant not provided [RCV002746462] Chr15:40936860 [GRCh38]
Chr15:41229058 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1431G>T (p.Val477=) single nucleotide variant not provided [RCV002715630] Chr15:40936418 [GRCh38]
Chr15:41228616 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1240G>A (p.Gly414Arg) single nucleotide variant not provided [RCV003008963] Chr15:40935117 [GRCh38]
Chr15:41227315 [GRCh37]
Chr15:15q15.1		 pathogenic
NM_019074.4(DLL4):c.1241-8C>A single nucleotide variant not provided [RCV002597901] Chr15:40936220 [GRCh38]
Chr15:41228418 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1416C>G (p.Gly472=) single nucleotide variant not provided [RCV002579769] Chr15:40936403 [GRCh38]
Chr15:41228601 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1769A>C (p.Gln590Pro) single nucleotide variant Inborn genetic diseases [RCV002920574] Chr15:40936756 [GRCh38]
Chr15:41228954 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1497C>T (p.Leu499=) single nucleotide variant not provided [RCV003089333] Chr15:40936484 [GRCh38]
Chr15:41228682 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.1944-17G>A single nucleotide variant not provided [RCV002577963] Chr15:40937401 [GRCh38]
Chr15:41229599 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.375A>G (p.Pro125=) single nucleotide variant not provided [RCV002649971] Chr15:40930663 [GRCh38]
Chr15:41222861 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1984A>C (p.Arg662=) single nucleotide variant not provided [RCV002647099] Chr15:40937458 [GRCh38]
Chr15:41229656 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.35C>T (p.Ala12Val) single nucleotide variant not provided [RCV003063914] Chr15:40929703 [GRCh38]
Chr15:41221901 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1864C>G (p.Leu622Val) single nucleotide variant not provided [RCV003011257] Chr15:40936851 [GRCh38]
Chr15:41229049 [GRCh37]
Chr15:15q15.1		 benign
NM_019074.4(DLL4):c.704A>C (p.Lys235Thr) single nucleotide variant Inborn genetic diseases [RCV004614338]|not provided [RCV003069020] Chr15:40932216 [GRCh38]
Chr15:41224414 [GRCh37]
Chr15:15q15.1		 likely benign|uncertain significance
NM_019074.4(DLL4):c.1312G>A (p.Glu438Lys) single nucleotide variant not provided [RCV002944291] Chr15:40936299 [GRCh38]
Chr15:41228497 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1317C>T (p.Leu439=) single nucleotide variant not provided [RCV002607456] Chr15:40936304 [GRCh38]
Chr15:41228502 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.315G>A (p.Leu105=) single nucleotide variant not provided [RCV002606897] Chr15:40930095 [GRCh38]
Chr15:41222293 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1806G>A (p.Lys602=) single nucleotide variant not provided [RCV003092897] Chr15:40936793 [GRCh38]
Chr15:41228991 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1960C>T (p.Arg654Trp) single nucleotide variant not provided [RCV002613090] Chr15:40937434 [GRCh38]
Chr15:41229632 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.585C>T (p.Phe195=) single nucleotide variant not provided [RCV002584966] Chr15:40931693 [GRCh38]
Chr15:41223891 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.754G>A (p.Glu252Lys) single nucleotide variant Inborn genetic diseases [RCV004066822]|not provided [RCV002654399] Chr15:40932351 [GRCh38]
Chr15:41224549 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1418G>A (p.Arg473Gln) single nucleotide variant not provided [RCV003073086] Chr15:40936405 [GRCh38]
Chr15:41228603 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.782A>G (p.His261Arg) single nucleotide variant not provided [RCV002586255] Chr15:40932379 [GRCh38]
Chr15:41224577 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.926C>G (p.Thr309Ser) single nucleotide variant Inborn genetic diseases [RCV003199150] Chr15:40934623 [GRCh38]
Chr15:41226821 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1429G>T (p.Val477Leu) single nucleotide variant Adams-Oliver syndrome 6 [RCV003320423] Chr15:40936416 [GRCh38]
Chr15:41228614 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1142A>G (p.Asn381Ser) single nucleotide variant Inborn genetic diseases [RCV003343082] Chr15:40935019 [GRCh38]
Chr15:41227217 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.336+8C>A single nucleotide variant not provided [RCV003712583] Chr15:40930124 [GRCh38]
Chr15:41222322 [GRCh37]
Chr15:15q15.1		 likely benign
GRCh37/hg19 15q15.1(chr15:41171132-41262130)x1 copy number loss not provided [RCV003483226] Chr15:41171132..41262130 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.490C>T (p.Leu164Phe) single nucleotide variant not provided [RCV003400872] Chr15:40931598 [GRCh38]
Chr15:41223796 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.899G>A (p.Cys300Tyr) single nucleotide variant DLL4-related disorder [RCV003399937] Chr15:40934596 [GRCh38]
Chr15:41226794 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.572G>A (p.Arg191His) single nucleotide variant DLL4-related disorder [RCV003391425] Chr15:40931680 [GRCh38]
Chr15:41223878 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.714G>T (p.Glu238Asp) single nucleotide variant not provided [RCV003713455] Chr15:40932226 [GRCh38]
Chr15:41224424 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.2001G>C (p.Gln667His) single nucleotide variant not provided [RCV003831401] Chr15:40937475 [GRCh38]
Chr15:41229673 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.851-10G>T single nucleotide variant not provided [RCV003659826] Chr15:40934538 [GRCh38]
Chr15:41226736 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1198G>A (p.Glu400Lys) single nucleotide variant not provided [RCV003738830] Chr15:40935075 [GRCh38]
Chr15:41227273 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1932G>A (p.Leu644=) single nucleotide variant not provided [RCV003850456] Chr15:40936919 [GRCh38]
Chr15:41229117 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1675C>T (p.Arg559Trp) single nucleotide variant not provided [RCV003851845] Chr15:40936662 [GRCh38]
Chr15:41228860 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1934G>A (p.Arg645Gln) single nucleotide variant not provided [RCV003810726] Chr15:40936921 [GRCh38]
Chr15:41229119 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1635G>A (p.Leu545=) single nucleotide variant not provided [RCV003850204] Chr15:40936622 [GRCh38]
Chr15:41228820 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.233C>A (p.Thr78Asn) single nucleotide variant not provided [RCV003669691] Chr15:40930013 [GRCh38]
Chr15:41222211 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.18G>A (p.Arg6=) single nucleotide variant not provided [RCV003725257] Chr15:40929686 [GRCh38]
Chr15:41221884 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1742_1750del (p.Pro581_Ala583del) deletion not provided [RCV003670026] Chr15:40936728..40936736 [GRCh38]
Chr15:41228926..41228934 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1357G>A (p.Gly453Ser) single nucleotide variant not provided [RCV003716819] Chr15:40936344 [GRCh38]
Chr15:41228542 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1560C>T (p.Pro520=) single nucleotide variant not provided [RCV003717614] Chr15:40936547 [GRCh38]
Chr15:41228745 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1552G>A (p.Glu518Lys) single nucleotide variant not provided [RCV003559462] Chr15:40936539 [GRCh38]
Chr15:41228737 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.851-10G>A single nucleotide variant not provided [RCV003667222] Chr15:40934538 [GRCh38]
Chr15:41226736 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1944-12G>A single nucleotide variant not provided [RCV003816649] Chr15:40937406 [GRCh38]
Chr15:41229604 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.395-5C>G single nucleotide variant not provided [RCV003568627] Chr15:40931498 [GRCh38]
Chr15:41223696 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1281C>T (p.Arg427=) single nucleotide variant not provided [RCV003564716] Chr15:40936268 [GRCh38]
Chr15:41228466 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1387A>C (p.Met463Leu) single nucleotide variant not provided [RCV003677128] Chr15:40936374 [GRCh38]
Chr15:41228572 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.628C>A (p.Pro210Thr) single nucleotide variant not provided [RCV003682690] Chr15:40931736 [GRCh38]
Chr15:41223934 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.507C>T (p.Tyr169=) single nucleotide variant not provided [RCV003719187] Chr15:40931615 [GRCh38]
Chr15:41223813 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1886G>A (p.Gly629Glu) single nucleotide variant not provided [RCV003870927] Chr15:40936873 [GRCh38]
Chr15:41229071 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1925C>T (p.Ala642Val) single nucleotide variant DLL4-related disorder [RCV004753729]|not provided [RCV003843164] Chr15:40936912 [GRCh38]
Chr15:41229110 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1943+3G>A single nucleotide variant not provided [RCV003721893] Chr15:40936933 [GRCh38]
Chr15:41229131 [GRCh37]
Chr15:15q15.1		 uncertain significance
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
NM_019074.4(DLL4):c.1687G>A (p.Gly563Ser) single nucleotide variant not provided [RCV003719626] Chr15:40936674 [GRCh38]
Chr15:41228872 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1598C>T (p.Ser533Leu) single nucleotide variant not provided [RCV003859676] Chr15:40936585 [GRCh38]
Chr15:41228783 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1950G>A (p.Lys650=) single nucleotide variant not provided [RCV003818913] Chr15:40937424 [GRCh38]
Chr15:41229622 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.658+3A>G single nucleotide variant DLL4-related disorder [RCV003893934] Chr15:40931769 [GRCh38]
Chr15:41223967 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1254G>A (p.Leu418=) single nucleotide variant DLL4-related disorder [RCV003983624] Chr15:40936241 [GRCh38]
Chr15:41228439 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1109C>T (p.Pro370Leu) single nucleotide variant Adams-Oliver syndrome 6 [RCV003990522] Chr15:40934986 [GRCh38]
Chr15:41227184 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1244G>C (p.Gly415Ala) single nucleotide variant Inborn genetic diseases [RCV004376241] Chr15:40936231 [GRCh38]
Chr15:41228429 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1444G>A (p.Asp482Asn) single nucleotide variant Inborn genetic diseases [RCV004376243] Chr15:40936431 [GRCh38]
Chr15:41228629 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1673G>A (p.Arg558Gln) single nucleotide variant Inborn genetic diseases [RCV004376245] Chr15:40936660 [GRCh38]
Chr15:41228858 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1684G>A (p.Asp562Asn) single nucleotide variant Inborn genetic diseases [RCV004376246] Chr15:40936671 [GRCh38]
Chr15:41228869 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1993A>C (p.Met665Leu) single nucleotide variant Inborn genetic diseases [RCV004376247] Chr15:40937467 [GRCh38]
Chr15:41229665 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.682G>C (p.Glu228Gln) single nucleotide variant Inborn genetic diseases [RCV004376249] Chr15:40932194 [GRCh38]
Chr15:41224392 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1298C>T (p.Thr433Met) single nucleotide variant Inborn genetic diseases [RCV004376242] Chr15:40936285 [GRCh38]
Chr15:41228483 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1154A>G (p.Asn385Ser) single nucleotide variant Inborn genetic diseases [RCV004376240] Chr15:40935031 [GRCh38]
Chr15:41227229 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.471G>C (p.Leu157Phe) single nucleotide variant DLL4-related disorder [RCV004753743]|Inborn genetic diseases [RCV004376248] Chr15:40931579 [GRCh38]
Chr15:41223777 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.187A>G (p.Lys63Glu) single nucleotide variant Adams-Oliver syndrome 6 [RCV003991226] Chr15:40929967 [GRCh38]
Chr15:41222165 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.1405G>A (p.Gly469Ser) single nucleotide variant Inborn genetic diseases [RCV004616616] Chr15:40936392 [GRCh38]
Chr15:41228590 [GRCh37]
Chr15:15q15.1		 uncertain significance
NC_000015.9:g.(?_38545387)_(42105565_?)dup duplication Mosaic variegated aneuploidy syndrome 1 [RCV004583016] Chr15:38545387..42105565 [GRCh37]
Chr15:15q14-15.1		 uncertain significance
NM_019074.4(DLL4):c.1944-1G>C single nucleotide variant not provided [RCV004590665] Chr15:40937417 [GRCh38]
Chr15:41229615 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.1210G>A (p.Asp404Asn) single nucleotide variant Inborn genetic diseases [RCV004616620] Chr15:40935087 [GRCh38]
Chr15:41227285 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.329C>T (p.Thr110Ile) single nucleotide variant Adams-Oliver syndrome 6 [RCV004594934] Chr15:40930109 [GRCh38]
Chr15:41222307 [GRCh37]
Chr15:15q15.1		 likely pathogenic
NM_019074.4(DLL4):c.1956G>C (p.Glu652Asp) single nucleotide variant Inborn genetic diseases [RCV004616618] Chr15:40937430 [GRCh38]
Chr15:41229628 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.357C>G (p.Ile119Met) single nucleotide variant Inborn genetic diseases [RCV004616619] Chr15:40930645 [GRCh38]
Chr15:41222843 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1862C>T (p.Pro621Leu) single nucleotide variant DLL4-related disorder [RCV004730801] Chr15:40936849 [GRCh38]
Chr15:41229047 [GRCh37]
Chr15:15q15.1		 uncertain significance
NM_019074.4(DLL4):c.1640T>C (p.Met547Thr) single nucleotide variant not provided [RCV004760812]   uncertain significance
NM_019074.4(DLL4):c.1314A>G (p.Glu438=) single nucleotide variant DLL4-related disorder [RCV004752607] Chr15:40936301 [GRCh38]
Chr15:41228499 [GRCh37]
Chr15:15q15.1		 likely benign
NM_019074.4(DLL4):c.1998C>G (p.Tyr666Ter) single nucleotide variant DLL4-related disorder [RCV004730358] Chr15:40937472 [GRCh38]
Chr15:41229670 [GRCh37]
Chr15:15q15.1		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1154
Count of miRNA genes:702
Interacting mature miRNAs:796
Transcripts:ENST00000249749, ENST00000557876, ENST00000559440
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
407109831GWAS758807_Hcognitive function measurement QTL GWAS758807 (human)1e-09cognitive function measurement154093028940930290Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
407081742GWAS730718_Hintelligence QTL GWAS730718 (human)9e-11intelligence154093028940930290Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407104371GWAS753347_Hcognitive function measurement QTL GWAS753347 (human)3e-10verbal-numerical reasoning measurement154093028940930290Human
407036049GWAS685025_Hcognitive function measurement, self reported educational attainment QTL GWAS685025 (human)2e-09cognitive function measurement, self reported educational attainment154093028940930290Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
406941525GWAS590501_Hintelligence QTL GWAS590501 (human)2e-08intelligence154093028940930290Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
406945593GWAS594569_HBMI-adjusted waist-hip ratio QTL GWAS594569 (human)3e-08BMI-adjusted waist-hip ratio154093028940930290Human
406991195GWAS640171_Hintelligence QTL GWAS640171 (human)5e-09intelligence154093028940930290Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
406959551GWAS608527_Hleukocyte count QTL GWAS608527 (human)4e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)154093392140933922Human

Markers in Region
RH78211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,230,716 - 41,230,837UniSTSGRCh37
Build 361539,018,008 - 39,018,129RGDNCBI36
Celera1517,998,595 - 17,998,716RGD
Cytogenetic Map15q14UniSTS
HuRef1518,079,251 - 18,079,372UniSTS
PMC316657P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,228,956 - 41,229,687UniSTSGRCh37
Build 361539,016,248 - 39,016,979RGDNCBI36
Celera1517,996,835 - 17,997,566RGD
Cytogenetic Map15q14UniSTS
HuRef1518,077,491 - 18,078,222UniSTS
PMC316657P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,221,900 - 41,222,197UniSTSGRCh37
Build 361539,009,192 - 39,009,489RGDNCBI36
Celera1517,989,779 - 17,990,076RGD
Cytogenetic Map15q14UniSTS
HuRef1518,070,435 - 18,070,732UniSTS
DLL4_593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,230,468 - 41,231,346UniSTSGRCh37
Build 361539,017,760 - 39,018,638RGDNCBI36
Celera1517,998,347 - 17,999,225RGD
HuRef1518,079,003 - 18,079,881UniSTS
UniSTS:465451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,228,706 - 41,228,965UniSTSGRCh37
Build 361539,015,998 - 39,016,257RGDNCBI36
Celera1517,996,585 - 17,996,844RGD
HuRef1518,077,241 - 18,077,500UniSTS
UniSTS:70152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371541,225,434 - 41,225,595UniSTSGRCh37
Build 361539,012,726 - 39,012,887RGDNCBI36
Celera1517,993,313 - 17,993,474RGD
HuRef1518,073,969 - 18,074,130UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2247 4916 1716 2324 6 621 1824 462 2233 7162 6348 48 3709 1 834 1728 1593 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB036931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB043894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF253468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI478830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI820351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA089757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY291308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC132722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000249749   ⟹   ENSP00000249749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,929,340 - 40,939,073 (+)Ensembl
Ensembl Acc Id: ENST00000557876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,929,340 - 40,930,890 (+)Ensembl
Ensembl Acc Id: ENST00000559440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1540,930,880 - 40,934,921 (+)Ensembl
RefSeq Acc Id: NM_019074   ⟹   NP_061947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,929,340 - 40,939,073 (+)NCBI
GRCh371541,221,531 - 41,231,258 (+)ENTREZGENE
Build 361539,008,839 - 39,018,529 (+)NCBI Archive
HuRef1518,070,066 - 18,079,793 (+)ENTREZGENE
CHM1_11541,339,420 - 41,349,204 (+)NCBI
T2T-CHM13v2.01538,735,323 - 38,745,058 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061947   ⟸   NM_019074
- Peptide Label: precursor
- UniProtKB: Q3KP23 (UniProtKB/Swiss-Prot),   Q9NQT9 (UniProtKB/Swiss-Prot),   Q9NR61 (UniProtKB/Swiss-Prot),   B2R9L8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000249749   ⟸   ENST00000249749
Protein Domains
DSL   EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR61-F1-model_v2 AlphaFold Q9NR61 1-685 view protein structure

Promoters
RGD ID:6792212
Promoter ID:HG_KWN:21070
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_019074
Position:
Human AssemblyChrPosition (strand)Source
Build 361539,008,271 - 39,009,267 (+)MPROMDB
RGD ID:7229151
Promoter ID:EPDNEW_H20321
Type:multiple initiation site
Name:DLL4_1
Description:delta like canonical Notch ligand 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20322  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,929,340 - 40,929,400EPDNEW
RGD ID:7229153
Promoter ID:EPDNEW_H20322
Type:initiation region
Name:DLL4_2
Description:delta like canonical Notch ligand 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20321  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381540,929,449 - 40,929,509EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2910 AgrOrtholog
COSMIC DLL4 COSMIC
Ensembl Genes ENSG00000128917 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000249749 ENTREZGENE
  ENST00000249749.7 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.25.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.3510 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000128917 GTEx
HGNC ID HGNC:2910 ENTREZGENE
Human Proteome Map DLL4 Human Proteome Map
InterPro DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Notch_ligand_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Notch_signaling UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54567 UniProtKB/Swiss-Prot
NCBI Gene 54567 ENTREZGENE
OMIM 605185 OMIM
PANTHER DELTA-LIKE PROTEIN 4-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOTCH LIGAND FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DL-JAG_EGF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MNNL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27366 PharmGKB
PRINTS EGFBLOOD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DSL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth factor receptor domain UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A0A292G9B9_HUMAN UniProtKB/TrEMBL
  B2R9L8 ENTREZGENE, UniProtKB/TrEMBL
  DLL4_HUMAN UniProtKB/Swiss-Prot
  Q3KP23 ENTREZGENE
  Q9NQT9 ENTREZGENE
  Q9NR61 ENTREZGENE
UniProt Secondary Q3KP23 UniProtKB/Swiss-Prot
  Q9NQT9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 DLL4  delta like canonical Notch ligand 4  DLL4  delta-like 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED