LIPG (lipase G, endothelial type) - Rat Genome Database

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Gene: LIPG (lipase G, endothelial type) Homo sapiens
Analyze
Symbol: LIPG
Name: lipase G, endothelial type
RGD ID: 1321819
HGNC Page HGNC:6623
Description: Enables phospholipase A1 activity and triglyceride lipase activity. Involved in several processes, including cholesterol homeostasis; phospholipid homeostasis; and positive regulation of high-density lipoprotein particle clearance. Located in several cellular components, including Golgi apparatus; cell surface; and early endosome. Implicated in cardiovascular system disease; cerebral infarction; coronary artery disease; and myocardial infarction. Biomarker of obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EDL; EL; endothelial cell-derived lipase; endothelial lipase; lipase, endothelial; lipoprotein lipase H; phospholipase A1; PRO719
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,561,479 - 49,599,185 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1849,560,699 - 49,599,185 (+)EnsemblGRCh38hg38GRCh38
GRCh371847,088,427 - 47,125,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361845,342,425 - 45,373,276 (+)NCBINCBI36Build 36hg18NCBI36
Build 341845,342,424 - 45,373,062NCBI
Celera1843,943,480 - 43,974,820 (+)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,942,649 - 43,973,220 (+)NCBIHuRef
CHM1_11847,083,758 - 47,114,772 (+)NCBICHM1_1
T2T-CHM13v2.01849,759,293 - 49,797,014 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,2-dichloroethane  (ISO)
1-octadecanoyl-2-[(9Z)-octadecenoyl]-sn-glycerol  (ISO)
1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphocholine  (EXP)
1-palmitoyl-2-oleoyl-sn-glycerol  (ISO)
1-stearoyl-2-linoleoyl-sn-glycerol  (ISO)
1-stearoyl-sn-glycero-3-phosphocholine  (ISO)
17beta-estradiol  (EXP)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arachidonic acid  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
aspartame  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
cholesteryl arachidonate  (ISO)
cholesteryl linoleate  (ISO)
cholesteryl linolenate  (ISO)
cholesteryl myristate  (ISO)
cholesteryl oleate  (ISO)
cholesteryl palmitate  (ISO)
cholesteryl stearate  (ISO)
choline  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
glucose  (ISO)
hexadecanoic acid  (ISO)
hydroquinone  (EXP)
inulin  (ISO)
leflunomide  (EXP)
linoleic acid  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methylisothiazolinone  (EXP)
mitoxantrone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-hexadecanoylsphingosine  (ISO)
N-methylformamide  (ISO)
N-Nitrosopyrrolidine  (EXP)
nevirapine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
oleic acid  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phosphatidylcholine  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resorcinol  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
sotorasib  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trametinib  (EXP)
trichloroethene  (ISO)
Triptolide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
venlafaxine hydrochloride  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Endothelial lipase concentrations are increased in metabolic syndrome and associated with coronary atherosclerosis. Badellino KO, etal., PLoS Med. 2006 Feb;3(2):e22. Epub 2005 Dec 20.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Association of endothelial lipase gene (LIPG) haplotypes with high-density lipoprotein cholesterol subfractions and apolipoprotein AI plasma levels in Japanese Americans. Hutter CM, etal., Atherosclerosis. 2006 Mar;185(1):78-86. Epub 2005 Jul 14.
4. Endothelial lipase modulates susceptibility to atherosclerosis in apolipoprotein-E-deficient mice. Ishida T, etal., J Biol Chem. 2004 Oct 22;279(43):45085-92. Epub 2004 Aug 9.
5. Visceral adiposity and endothelial lipase. Paradis ME, etal., J Clin Endocrinol Metab. 2006 Sep;91(9):3538-43. Epub 2006 Jun 13.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Endothelial lipase gene polymorphism is associated with acute myocardial infarction, independently of high-density lipoprotein-cholesterol levels. Shimizu M, etal., Circ J. 2007 Jun;71(6):842-6.
9. Increased expression of endothelial lipase in rat models of hypertension. Shimokawa Y, etal., Cardiovasc Res. 2005 Jun 1;66(3):594-600.
10. Genetic risk for atherothrombotic cerebral infarction in individuals stratified by sex or conventional risk factors for atherosclerosis. Yamaguchi S, etal., Int J Mol Med. 2006 Nov;18(5):871-83.
Additional References at PubMed
PMID:10192396   PMID:10318835   PMID:12032167   PMID:12164779   PMID:12477932   PMID:12569156   PMID:12601178   PMID:12867537   PMID:12884003   PMID:12966036   PMID:12975309   PMID:14499622  
PMID:14517167   PMID:14667806   PMID:15117821   PMID:15231747   PMID:15342690   PMID:15485805   PMID:15576837   PMID:15961789   PMID:16039280   PMID:16335952   PMID:16877778   PMID:16940551  
PMID:16980590   PMID:17093291   PMID:17207965   PMID:17322565   PMID:17356047   PMID:17495604   PMID:17545692   PMID:17570372   PMID:17644777   PMID:17651673   PMID:17700364   PMID:17822686  
PMID:17986713   PMID:18039650   PMID:18193043   PMID:18193044   PMID:18683147   PMID:18988890   PMID:18996102   PMID:19060906   PMID:19060911   PMID:19136670   PMID:19148283   PMID:19287092  
PMID:19380136   PMID:19411665   PMID:19411705   PMID:19567873   PMID:19578796   PMID:19780863   PMID:19878569   PMID:19913121   PMID:19936222   PMID:19948975   PMID:20031538   PMID:20045866  
PMID:20167577   PMID:20370913   PMID:20394740   PMID:20466371   PMID:20571754   PMID:20602615   PMID:20621031   PMID:20628086   PMID:20679960   PMID:20686565   PMID:20688330   PMID:20691829  
PMID:20855565   PMID:20864672   PMID:20923576   PMID:20972250   PMID:21122200   PMID:21130993   PMID:21145773   PMID:21816559   PMID:21852675   PMID:21873635   PMID:21957202   PMID:22174694  
PMID:22286219   PMID:22464213   PMID:22723003   PMID:22740344   PMID:22952570   PMID:22972429   PMID:23075452   PMID:23102786   PMID:23109900   PMID:23243195   PMID:23251661   PMID:23510199  
PMID:23666239   PMID:23673478   PMID:23918928   PMID:23991054   PMID:24097068   PMID:24115033   PMID:24458708   PMID:24634127   PMID:24816252   PMID:24852509   PMID:24886585   PMID:25250890  
PMID:25291260   PMID:25798074   PMID:26124511   PMID:26447519   PMID:27045898   PMID:27430252   PMID:27431295   PMID:27590083   PMID:27600285   PMID:27612170   PMID:28514442   PMID:28546217  
PMID:29350614   PMID:29748333   PMID:30150432   PMID:30621702   PMID:30651409   PMID:30653260   PMID:30657227   PMID:31020688   PMID:31216999   PMID:31220617   PMID:31473149   PMID:31923467  
PMID:32572177   PMID:32667032   PMID:32893849   PMID:33479916   PMID:33882321   PMID:33961781   PMID:34001944   PMID:36606668  


Genomics

Comparative Map Data
LIPG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381849,561,479 - 49,599,185 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1849,560,699 - 49,599,185 (+)EnsemblGRCh38hg38GRCh38
GRCh371847,088,427 - 47,125,555 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361845,342,425 - 45,373,276 (+)NCBINCBI36Build 36hg18NCBI36
Build 341845,342,424 - 45,373,062NCBI
Celera1843,943,480 - 43,974,820 (+)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,942,649 - 43,973,220 (+)NCBIHuRef
CHM1_11847,083,758 - 47,114,772 (+)NCBICHM1_1
T2T-CHM13v2.01849,759,293 - 49,797,014 (+)NCBIT2T-CHM13v2.0
Lipg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391875,072,393 - 75,095,380 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1875,072,393 - 75,094,334 (-)EnsemblGRCm39 Ensembl
GRCm381874,939,322 - 74,961,263 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1874,939,322 - 74,961,263 (-)EnsemblGRCm38mm10GRCm38
MGSCv371875,098,976 - 75,120,917 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361875,064,728 - 75,086,471 (-)NCBIMGSCv36mm8
Celera1876,168,769 - 76,190,731 (-)NCBICelera
Cytogenetic Map18E2NCBI
Lipg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21868,514,923 - 68,536,105 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1868,514,923 - 68,536,260 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1870,627,517 - 70,648,729 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01871,296,048 - 71,317,297 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01869,153,529 - 69,174,741 (-)NCBIRnor_WKY
Rnor_6.01870,903,528 - 70,924,434 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1870,901,710 - 70,924,708 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01870,043,855 - 70,064,759 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41871,795,150 - 71,816,056 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11871,868,350 - 71,889,257 (-)NCBI
Celera1866,690,471 - 66,711,384 (-)NCBICelera
Cytogenetic Map18q12.2NCBI
Lipg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540234,667,036 - 34,687,568 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540234,666,757 - 34,689,726 (+)NCBIChiLan1.0ChiLan1.0
LIPG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11852,781,037 - 52,811,017 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01842,942,132 - 42,972,112 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11846,291,051 - 46,320,652 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1846,292,154 - 46,320,652 (+)Ensemblpanpan1.1panPan2
LIPG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1779,201,514 - 79,221,090 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl779,201,496 - 79,222,552 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha778,609,001 - 78,628,250 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0779,270,275 - 79,289,621 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl779,269,933 - 79,289,565 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1778,985,951 - 79,005,300 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0779,014,058 - 79,033,404 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0779,300,625 - 79,319,973 (-)NCBIUU_Cfam_GSD_1.0
Lipg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494438,167,652 - 38,190,835 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649713,406,357 - 13,429,890 (-)EnsemblSpeTri2.0
SpeTri2.0NW_00493649713,406,402 - 13,429,833 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LIPG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl199,081,938 - 99,110,874 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1199,081,940 - 99,110,671 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21108,638,415 - 108,667,182 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LIPG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11831,368,189 - 31,395,103 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1831,368,857 - 31,394,278 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660505,524,070 - 5,624,780 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lipg
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477813,107,283 - 13,133,270 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477813,107,037 - 13,133,162 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LIPG
84 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_006033.2(LIPG):c.158T>C (p.Leu53Pro) single nucleotide variant Malignant melanoma [RCV000063379] Chr18:49565377 [GRCh38]
Chr18:47091747 [GRCh37]
Chr18:45345745 [NCBI36]
Chr18:18q21.1		 not provided
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.1(chr18:47099158-47469841)x3 copy number gain See cases [RCV000449258] Chr18:47099158..47469841 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1(chr18:47107857-47463620)x3 copy number gain not provided [RCV000683994] Chr18:47107857..47463620 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006033.4(LIPG):c.893C>G (p.Thr298Ser) single nucleotide variant not provided [RCV000947879] Chr18:49581514 [GRCh38]
Chr18:47107884 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.1389T>C (p.Cys463=) single nucleotide variant not provided [RCV000966054] Chr18:49586758 [GRCh38]
Chr18:47113128 [GRCh37]
Chr18:18q21.1		 likely benign
GRCh37/hg19 18q21.1(chr18:47097488-47470054)x3 copy number gain not provided [RCV000847688] Chr18:47097488..47470054 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1(chr18:47103259-47463796)x3 copy number gain not provided [RCV000847296] Chr18:47103259..47463796 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_006033.4(LIPG):c.76G>A (p.Gly26Ser) single nucleotide variant not provided [RCV001521111] Chr18:49562384 [GRCh38]
Chr18:47088754 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) single nucleotide variant not provided [RCV001520704]|not specified [RCV001700774] Chr18:49583585 [GRCh38]
Chr18:47109955 [GRCh37]
Chr18:18q21.1		 benign
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006033.4(LIPG):c.866A>G (p.Asp289Gly) single nucleotide variant not provided [RCV001913615] Chr18:49581487 [GRCh38]
Chr18:47107857 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.671G>A (p.Arg224His) single nucleotide variant not provided [RCV001926339] Chr18:49575468 [GRCh38]
Chr18:47101838 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1228T>G (p.Leu410Val) single nucleotide variant not provided [RCV002008399] Chr18:49583626 [GRCh38]
Chr18:47109996 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.355G>A (p.Val119Ile) single nucleotide variant not provided [RCV002005335] Chr18:49567517 [GRCh38]
Chr18:47093887 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1372C>T (p.Arg458Trp) single nucleotide variant not provided [RCV002039898] Chr18:49583770 [GRCh38]
Chr18:47110140 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.160C>T (p.Arg54Cys) single nucleotide variant not provided [RCV001986204] Chr18:49565379 [GRCh38]
Chr18:47091749 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.832G>A (p.Val278Ile) single nucleotide variant not provided [RCV001909657] Chr18:49581453 [GRCh38]
Chr18:47107823 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_006033.4(LIPG):c.1342C>T (p.Arg448Cys) single nucleotide variant not provided [RCV001928840] Chr18:49583740 [GRCh38]
Chr18:47110110 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.133G>A (p.Val45Ile) single nucleotide variant not provided [RCV001893115] Chr18:49565352 [GRCh38]
Chr18:47091722 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.786A>G (p.Ala262=) single nucleotide variant not provided [RCV002038933] Chr18:49575583 [GRCh38]
Chr18:47101953 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.853_854del (p.Leu285fs) microsatellite not provided [RCV001981595] Chr18:49581470..49581471 [GRCh38]
Chr18:47107840..47107841 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1427G>A (p.Arg476Gln) single nucleotide variant not provided [RCV001990003] Chr18:49586796 [GRCh38]
Chr18:47113166 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.872C>T (p.Pro291Leu) single nucleotide variant not provided [RCV002017957] Chr18:49581493 [GRCh38]
Chr18:47107863 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_46570425)_(48604837_?)dup duplication not provided [RCV001923066] Chr18:46570425..48604837 [GRCh37]
Chr18:18q21.1-21.2		 uncertain significance
NM_006033.4(LIPG):c.629C>T (p.Pro210Leu) single nucleotide variant not provided [RCV002028315] Chr18:49575426 [GRCh38]
Chr18:47101796 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.794-1G>A single nucleotide variant not provided [RCV002014708] Chr18:49581414 [GRCh38]
Chr18:47107784 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1426C>T (p.Arg476Trp) single nucleotide variant not provided [RCV002107044] Chr18:49586795 [GRCh38]
Chr18:47113165 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1376+18C>T single nucleotide variant not provided [RCV002105080] Chr18:49583792 [GRCh38]
Chr18:47110162 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.1171G>A (p.Glu391Lys) single nucleotide variant not provided [RCV002168616] Chr18:49583569 [GRCh38]
Chr18:47109939 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.69A>C (p.Val23=) single nucleotide variant not provided [RCV002108095] Chr18:49562377 [GRCh38]
Chr18:47088747 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.115A>C (p.Lys39Gln) single nucleotide variant not provided [RCV002089995] Chr18:49565334 [GRCh38]
Chr18:47091704 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.510C>T (p.Leu170=) single nucleotide variant not provided [RCV002174172] Chr18:49569487 [GRCh38]
Chr18:47095857 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.678C>T (p.Phe226=) single nucleotide variant not provided [RCV002216158] Chr18:49575475 [GRCh38]
Chr18:47101845 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1107C>T (p.Tyr369=) single nucleotide variant not provided [RCV002133508] Chr18:49582432 [GRCh38]
Chr18:47108802 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.332C>T (p.Thr111Ile) single nucleotide variant not provided [RCV002153763] Chr18:49567494 [GRCh38]
Chr18:47093864 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.63C>T (p.Ser21=) single nucleotide variant not provided [RCV002096528] Chr18:49562371 [GRCh38]
Chr18:47088741 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.1157+11C>T single nucleotide variant not provided [RCV002092756] Chr18:49582493 [GRCh38]
Chr18:47108863 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1158-4G>C single nucleotide variant not provided [RCV002193038] Chr18:49583552 [GRCh38]
Chr18:47109922 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.12C>A (p.Ser4=) single nucleotide variant not provided [RCV002133251] Chr18:49562320 [GRCh38]
Chr18:47088690 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.460-16T>C single nucleotide variant not provided [RCV002171895] Chr18:49569421 [GRCh38]
Chr18:47095791 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.360G>A (p.Val120=) single nucleotide variant not provided [RCV002196790] Chr18:49567522 [GRCh38]
Chr18:47093892 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1399C>T (p.Pro467Ser) single nucleotide variant not provided [RCV002217043] Chr18:49586768 [GRCh38]
Chr18:47113138 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.519C>T (p.His173=) single nucleotide variant not provided [RCV002100806] Chr18:49569496 [GRCh38]
Chr18:47095866 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1194C>T (p.Phe398=) single nucleotide variant not provided [RCV002119364] Chr18:49583592 [GRCh38]
Chr18:47109962 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.218C>T (p.Pro73Leu) single nucleotide variant not provided [RCV002162637] Chr18:49565437 [GRCh38]
Chr18:47091807 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.840C>G (p.Leu280=) single nucleotide variant not provided [RCV002123461] Chr18:49581461 [GRCh38]
Chr18:47107831 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.603G>A (p.Gly201=) single nucleotide variant not provided [RCV002138340] Chr18:49575400 [GRCh38]
Chr18:47101770 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.480C>T (p.Leu160=) single nucleotide variant not provided [RCV002123626] Chr18:49569457 [GRCh38]
Chr18:47095827 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.280-16C>G single nucleotide variant not provided [RCV002141717] Chr18:49567426 [GRCh38]
Chr18:47093796 [GRCh37]
Chr18:18q21.1		 benign
NC_000018.9:g.(?_47088679)_(47095938_?)dup duplication not provided [RCV003116488] Chr18:47088679..47095938 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_47101719)_(47116892_?)dup duplication not provided [RCV003116489] Chr18:47101719..47116892 [GRCh37]
Chr18:18q21.1		 uncertain significance
NC_000018.9:g.(?_47101719)_(47463787_?)dup duplication not provided [RCV003122485] Chr18:47101719..47463787 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1082T>C (p.Met361Thr) single nucleotide variant not provided [RCV002907809] Chr18:49582407 [GRCh38]
Chr18:47108777 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.444G>A (p.Met148Ile) single nucleotide variant not provided [RCV002681902] Chr18:49567606 [GRCh38]
Chr18:47093976 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1157+12G>A single nucleotide variant not provided [RCV002771113] Chr18:49582494 [GRCh38]
Chr18:47108864 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.316G>A (p.Val106Met) single nucleotide variant not provided [RCV002663147] Chr18:49567478 [GRCh38]
Chr18:47093848 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.794-16T>C single nucleotide variant not provided [RCV002570855] Chr18:49581399 [GRCh38]
Chr18:47107769 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.630G>A (p.Pro210=) single nucleotide variant not provided [RCV002979003] Chr18:49575427 [GRCh38]
Chr18:47101797 [GRCh37]
Chr18:18q21.1		 benign
NM_006033.4(LIPG):c.181C>G (p.His61Asp) single nucleotide variant not provided [RCV002636466] Chr18:49565400 [GRCh38]
Chr18:47091770 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.334A>G (p.Arg112Gly) single nucleotide variant not provided [RCV002790228] Chr18:49567496 [GRCh38]
Chr18:47093866 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1108G>A (p.Val370Ile) single nucleotide variant not provided [RCV002983138] Chr18:49582433 [GRCh38]
Chr18:47108803 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1366A>T (p.Thr456Ser) single nucleotide variant Inborn genetic diseases [RCV002786896] Chr18:49583764 [GRCh38]
Chr18:47110134 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1157+18C>T single nucleotide variant not provided [RCV002853104] Chr18:49582500 [GRCh38]
Chr18:47108870 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1244C>T (p.Thr415Ile) single nucleotide variant not provided [RCV002626942] Chr18:49583642 [GRCh38]
Chr18:47110012 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1157+2T>C single nucleotide variant not provided [RCV003023694] Chr18:49582484 [GRCh38]
Chr18:47108854 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.282G>T (p.Met94Ile) single nucleotide variant not provided [RCV002646914] Chr18:49567444 [GRCh38]
Chr18:47093814 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.460-2A>G single nucleotide variant not provided [RCV003029963] Chr18:49569435 [GRCh38]
Chr18:47095805 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1351G>A (p.Val451Met) single nucleotide variant not provided [RCV002579284] Chr18:49583749 [GRCh38]
Chr18:47110119 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.97+14G>A single nucleotide variant not provided [RCV002578387] Chr18:49562419 [GRCh38]
Chr18:47088789 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1446G>A (p.Lys482=) single nucleotide variant not provided [RCV002716241] Chr18:49586815 [GRCh38]
Chr18:47113185 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.70C>T (p.Pro24Ser) single nucleotide variant Inborn genetic diseases [RCV002921495] Chr18:49562378 [GRCh38]
Chr18:47088748 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.345C>T (p.Asp115=) single nucleotide variant not provided [RCV002597717] Chr18:49567507 [GRCh38]
Chr18:47093877 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1312C>T (p.Arg438Cys) single nucleotide variant not provided [RCV003087206] Chr18:49583710 [GRCh38]
Chr18:47110080 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1137C>G (p.Ser379=) single nucleotide variant not provided [RCV003047384] Chr18:49582462 [GRCh38]
Chr18:47108832 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.1210G>A (p.Glu404Lys) single nucleotide variant not provided [RCV003049064] Chr18:49583608 [GRCh38]
Chr18:47109978 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1486A>G (p.Thr496Ala) single nucleotide variant not provided [RCV003064515] Chr18:49590505 [GRCh38]
Chr18:47116875 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1320C>T (p.Pro440=) single nucleotide variant not provided [RCV002635821] Chr18:49583718 [GRCh38]
Chr18:47110088 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.585C>G (p.Ala195=) single nucleotide variant not provided [RCV002609851] Chr18:49575382 [GRCh38]
Chr18:47101752 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.794-4C>T single nucleotide variant not provided [RCV003069552] Chr18:49581411 [GRCh38]
Chr18:47107781 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.572-10T>C single nucleotide variant not provided [RCV002612900] Chr18:49575359 [GRCh38]
Chr18:47101729 [GRCh37]
Chr18:18q21.1		 uncertain significance
NM_006033.4(LIPG):c.1398C>T (p.Asp466=) single nucleotide variant not provided [RCV002611467] Chr18:49586767 [GRCh38]
Chr18:47113137 [GRCh37]
Chr18:18q21.1		 likely benign
NM_006033.4(LIPG):c.563G>A (p.Arg188Gln) single nucleotide variant Inborn genetic diseases [RCV003205076] Chr18:49569540 [GRCh38]
Chr18:47095910 [GRCh37]
Chr18:18q21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1985
Count of miRNA genes:968
Interacting mature miRNAs:1153
Transcripts:ENST00000261292, ENST00000427224, ENST00000577628, ENST00000579750, ENST00000580036, ENST00000583083
Prediction methods:Microtar, 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.

Markers in Region
PMC151857P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,107,799 - 47,107,965UniSTSGRCh37
Build 361845,361,797 - 45,361,963RGDNCBI36
Celera1843,963,341 - 43,963,507RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,961,730 - 43,961,896UniSTS
LIPG_900  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,118,267 - 47,119,087UniSTSGRCh37
Build 361845,372,265 - 45,373,085RGDNCBI36
Celera1843,973,809 - 43,974,629RGD
HuRef1843,972,209 - 43,973,029UniSTS
D18S1238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371847,118,319 - 47,118,440UniSTSGRCh37
Build 361845,372,317 - 45,372,438RGDNCBI36
Celera1843,973,861 - 43,973,982RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,972,261 - 43,972,382UniSTS
GeneMap99-GB4 RH Map18347.75UniSTS
Whitehead-RH Map18418.7UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18589.6UniSTS


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
Medium 133 8 981 283 12 284 23 18 49 71 88 829 3 21 9 3
Low 1198 402 287 201 656 175 1663 529 1070 290 811 668 39 1 433 825 2
Below cutoff 1105 2350 453 138 1016 6 2617 1628 2597 57 556 111 132 747 1913

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005258390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011526267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF118767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI861822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC381775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU332856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261292   ⟹   ENSP00000261292
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,562,057 - 49,599,185 (+)Ensembl
RefSeq Acc Id: ENST00000427224   ⟹   ENSP00000387978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,562,060 - 49,590,752 (+)Ensembl
RefSeq Acc Id: ENST00000577628   ⟹   ENSP00000463835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,560,699 - 49,581,849 (+)Ensembl
RefSeq Acc Id: ENST00000579750   ⟹   ENSP00000462480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,562,345 - 49,567,763 (+)Ensembl
RefSeq Acc Id: ENST00000580036   ⟹   ENSP00000462420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,562,087 - 49,581,852 (+)Ensembl
RefSeq Acc Id: ENST00000583083   ⟹   ENSP00000463077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,561,172 - 49,567,475 (+)Ensembl
RefSeq Acc Id: ENST00000623277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1849,589,359 - 49,592,906 (+)Ensembl
RefSeq Acc Id: NM_001308006   ⟹   NP_001294935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,562,057 - 49,599,185 (+)NCBI
CHM1_11847,083,732 - 47,114,772 (+)NCBI
T2T-CHM13v2.01849,759,871 - 49,797,014 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006033   ⟹   NP_006024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,562,057 - 49,599,185 (+)NCBI
GRCh371847,087,069 - 47,119,278 (+)NCBI
Build 361845,342,425 - 45,373,276 (+)NCBI Archive
HuRef1843,942,649 - 43,973,220 (+)ENTREZGENE
CHM1_11847,083,732 - 47,114,772 (+)NCBI
T2T-CHM13v2.01849,759,871 - 49,797,014 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437944   ⟹   XP_047293900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381849,561,479 - 49,575,362 (+)NCBI
RefSeq Acc Id: XM_054319373   ⟹   XP_054175348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,759,293 - 49,773,175 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_006024   ⟸   NM_006033
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6UW82 (UniProtKB/Swiss-Prot),   Q9Y5X9 (UniProtKB/Swiss-Prot),   A0A024R2B5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001294935   ⟸   NM_001308006
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y5X9 (UniProtKB/Swiss-Prot),   B4DTR8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000462420   ⟸   ENST00000580036
RefSeq Acc Id: ENSP00000463077   ⟸   ENST00000583083
RefSeq Acc Id: ENSP00000387978   ⟸   ENST00000427224
RefSeq Acc Id: ENSP00000463835   ⟸   ENST00000577628
RefSeq Acc Id: ENSP00000261292   ⟸   ENST00000261292
RefSeq Acc Id: ENSP00000462480   ⟸   ENST00000579750
RefSeq Acc Id: XP_047293900   ⟸   XM_047437944
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175348   ⟸   XM_054319373
- Peptide Label: isoform X1
Protein Domains
Lipase   PLAT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5X9-F1-model_v2 AlphaFold Q9Y5X9 1-500 view protein structure

Promoters
RGD ID:6794903
Promoter ID:HG_KWN:28004
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_006033,   UC002LDU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361845,342,109 - 45,342,609 (+)MPROMDB
RGD ID:7237307
Promoter ID:EPDNEW_H24398
Type:multiple initiation site
Name:LIPG_1
Description:lipase G, endothelial type
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
GRCh381849,562,057 - 49,562,117EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6623 AgrOrtholog
COSMIC LIPG COSMIC
Ensembl Genes ENSG00000101670 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261292 ENTREZGENE
  ENSP00000261292.4 UniProtKB/Swiss-Prot
  ENSP00000387978 ENTREZGENE
  ENSP00000387978.2 UniProtKB/TrEMBL
  ENSP00000462420.1 UniProtKB/Swiss-Prot
  ENSP00000462480.1 UniProtKB/TrEMBL
  ENSP00000463077.1 UniProtKB/TrEMBL
  ENSP00000463835.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261292 ENTREZGENE
  ENST00000261292.9 UniProtKB/Swiss-Prot
  ENST00000427224 ENTREZGENE
  ENST00000427224.6 UniProtKB/TrEMBL
  ENST00000577628.5 UniProtKB/TrEMBL
  ENST00000579750.1 UniProtKB/TrEMBL
  ENST00000580036.5 UniProtKB/Swiss-Prot
  ENST00000583083.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1820 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101670 GTEx
HGNC ID HGNC:6623 ENTREZGENE
Human Proteome Map LIPG Human Proteome Map
InterPro AB_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase/vitellogenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase_LIPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lipo_Lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT/LH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAG_lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9388 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9388 ENTREZGENE
OMIM 603684 OMIM
PANTHER ENDOTHELIAL LIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Lipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30395 PharmGKB
PIRSF Lipoprotein_lipase_LIPH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS LIPOLIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TAGLIPASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE LIPASE_SER UniProtKB/Swiss-Prot
  PLAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53474 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R2B5 ENTREZGENE, UniProtKB/TrEMBL
  A0A075B751_HUMAN UniProtKB/TrEMBL
  B4DTR8 ENTREZGENE, UniProtKB/TrEMBL
  J3KTN7_HUMAN UniProtKB/TrEMBL
  J3QQQ0_HUMAN UniProtKB/TrEMBL
  LIPE_HUMAN UniProtKB/Swiss-Prot
  Q6UW82 ENTREZGENE
  Q9Y5X9 ENTREZGENE
UniProt Secondary B0LPG6 UniProtKB/Swiss-Prot
  Q6P9C8 UniProtKB/Swiss-Prot
  Q6UW82 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-16 LIPG  lipase G, endothelial type    lipase G, endothelial  Symbol and/or name change 5135510 APPROVED
2016-02-02 LIPG  lipase G, endothelial    lipase, endothelial  Symbol and/or name change 5135510 APPROVED
2011-08-16 LIPG  lipase, endothelial  LIPG  lipase, endothelial  Symbol and/or name change 5135510 APPROVED