LOXL1 (lysyl oxidase like 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: LOXL1 (lysyl oxidase like 1) Homo sapiens
Analyze
Symbol: LOXL1
Name: lysyl oxidase like 1
RGD ID: 1318705
HGNC Page HGNC:6665
Description: Predicted to enable protein-lysine 6-oxidase activity. Predicted to be involved in collagen fibril organization. Located in extracellular space. Implicated in Kuhnt-Junius degeneration; exfoliation syndrome; and primary open angle glaucoma. Biomarker of exfoliation syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LOL; LOXL; lysyl oxidase homolog 1; lysyl oxidase-like 1; lysyl oxidase-like protein 1
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
GRCh381573,926,462 - 73,952,136 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1573,925,989 - 73,952,137 (+)EnsemblGRCh38hg38GRCh38
GRCh371574,218,803 - 74,244,477 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,005,842 - 72,031,531 (+)NCBINCBI36Build 36hg18NCBI36
Build 341572,005,872 - 72,031,529NCBI
Celera1551,098,617 - 51,121,842 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,050,475 - 51,076,334 (+)NCBIHuRef
CHM1_11574,336,766 - 74,362,440 (+)NCBICHM1_1
T2T-CHM13v2.01571,743,808 - 71,769,482 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
amitrole  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
azoxystrobin  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cantharidin  (ISO)
carbamazepine  (EXP)
carbendazim  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
clotrimazole  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cumene  (ISO)
Cuprizon  (ISO)
deguelin  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diazinon  (EXP)
diiodine  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP,ISO)
fenpyroximate  (EXP)
fentanyl  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (ISO)
methimazole  (ISO)
microcystin-LR  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
oxaliplatin  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
pyrimidifen  (EXP)
rotenone  (EXP,ISO)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Trapidil  (ISO)
trimellitic anhydride  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas. Chakrabarti S, etal., Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2343-7. doi: 10.1167/iovs.07-1557. Epub 2008 Jan 25.
2. Atomic force microscopy-based antibody recognition imaging of proteins in the pathological deposits in pseudoexfoliation syndrome. Creasey R, etal., Ultramicroscopy. 2011 Jul;111(8):1055-61. doi: 10.1016/j.ultramic.2011.03.008. Epub 2011 Mar 21.
3. LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. Fan BJ, etal., Invest Ophthalmol Vis Sci. 2011 Apr 12;52(5):2372-8. doi: 10.1167/iovs.10-6268. Print 2011 Apr.
4. Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration. Fuse N, etal., Am J Ophthalmol. 2011 Mar;151(3):550-6.e1. doi: 10.1016/j.ajo.2010.08.048. Epub 2011 Jan 13.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Evaluation of LOXL1 polymorphisms in primary open-angle glaucoma in southern and northern Chinese. Gong WF, etal., Mol Vis. 2008;14:2381-9. Epub 2008 Dec 19.
7. Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population. Kasim B, etal., Mol Vis. 2013;19:114-20. Epub 2013 Jan 28.
8. Association of LOXL1 polymorphisms with pseudoexfoliation in the Chinese. Lee KY, etal., Mol Vis. 2009 Jun 4;15:1120-6.
9. The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma. Liu Y, etal., Mol Vis. 2012;18:2976-81. Epub 2012 Dec 14.
10. Role of Lysyl oxidase-like 1 gene polymorphisms in Pakistani patients with pseudoexfoliative glaucoma. Micheal S, etal., Mol Vis. 2012;18:1040-4. Epub 2012 Apr 25.
11. Comparison of gene expression profiling in pressure and volume overload-induced myocardial hypertrophies in rats. Miyazaki H, etal., Hypertens Res. 2006 Dec;29(12):1029-45.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. TT polymorphism in rs2165241 and rs1048661 region in lysyl oxidase like-1 gene may have a role in stress urinary incontinence physiopathology. Ozbek E, etal., J Obstet Gynaecol Res. 2013 Jan;39(1):237-42. doi: 10.1111/j.1447-0756.2012.01942.x. Epub 2012 Jul 6.
14. An investigation into LOXL1 variants in black South African individuals with exfoliation syndrome. Rautenbach RM, etal., Arch Ophthalmol. 2011 Feb;129(2):206-10. doi: 10.1001/archophthalmol.2010.349.
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome. Trantow CM, etal., Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1205-14. doi: 10.1167/iovs.08-2791. Epub 2008 Nov 21.
17. Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma. Wolf C, etal., J Glaucoma. 2010 Feb;19(2):136-41. doi: 10.1097/IJG.0b013e31819f9330.
18. Increased choroidal neovascularization following laser induction in mice lacking lysyl oxidase-like 1. Yu HG, etal., Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2599-605. doi: 10.1167/iovs.07-1508. Epub 2008 Feb 22.
Additional References at PubMed
PMID:7689553   PMID:7706256   PMID:10773658   PMID:11642359   PMID:12477932   PMID:12577300   PMID:12686136   PMID:14550642   PMID:14745449   PMID:15086544   PMID:15489334   PMID:16251195  
PMID:16842595   PMID:17287949   PMID:17690259   PMID:17690546   PMID:17891191   PMID:17999374   PMID:18036875   PMID:18037624   PMID:18201684   PMID:18254956   PMID:18282488   PMID:18287813  
PMID:18332326   PMID:18334928   PMID:18334947   PMID:18385063   PMID:18385788   PMID:18421074   PMID:18450598   PMID:18483563   PMID:18541854   PMID:18552979   PMID:18618003   PMID:18636115  
PMID:18648524   PMID:18806885   PMID:18958304   PMID:18974306   PMID:19112534   PMID:19182211   PMID:19240540   PMID:19343041   PMID:19450918   PMID:19584346   PMID:19664108   PMID:19724858  
PMID:19763368   PMID:19936304   PMID:20051886   PMID:20142848   PMID:20379614   PMID:20431720   PMID:20436359   PMID:20551380   PMID:20613779   PMID:20881960   PMID:20940247   PMID:21139690  
PMID:21145461   PMID:21190048   PMID:21197115   PMID:21272281   PMID:21510775   PMID:21559813   PMID:21674292   PMID:21738402   PMID:21740577   PMID:21784201   PMID:21855673   PMID:21873635  
PMID:21948647   PMID:21970694   PMID:22128228   PMID:22194657   PMID:22328822   PMID:22487196   PMID:22633114   PMID:22906264   PMID:23196386   PMID:23275563   PMID:23357697   PMID:23411028  
PMID:23441117   PMID:23494965   PMID:23563607   PMID:23687437   PMID:23869164   PMID:23886154   PMID:24068861   PMID:24603551   PMID:24614111   PMID:24739284   PMID:24809751   PMID:24892565  
PMID:24893574   PMID:24917141   PMID:24938310   PMID:25017124   PMID:25041436   PMID:25118846   PMID:25130441   PMID:25275906   PMID:25275910   PMID:25304275   PMID:25636109   PMID:25750511  
PMID:25988230   PMID:26307087   PMID:26319397   PMID:26348632   PMID:26404116   PMID:26758070   PMID:26804196   PMID:26829347   PMID:26997634   PMID:27028259   PMID:27068509   PMID:27116380  
PMID:27339457   PMID:27396912   PMID:27753755   PMID:28327460   PMID:28369001   PMID:28514442   PMID:28534485   PMID:28553957   PMID:28675934   PMID:28965583   PMID:29125826   PMID:29164236  
PMID:30045039   PMID:30189755   PMID:30257391   PMID:30919528   PMID:30986821   PMID:31468594   PMID:32102031   PMID:32424143   PMID:32827243   PMID:32912229   PMID:33095806   PMID:33188817  
PMID:33792495   PMID:33909695   PMID:33961781   PMID:34012228   PMID:34014450   PMID:34283938   PMID:34334119   PMID:34440405   PMID:34573365   PMID:34726854   PMID:34732716   PMID:35013218  
PMID:35440244   PMID:35647973   PMID:35696571   PMID:36564963   PMID:37602378   PMID:38217541   PMID:38267662   PMID:38466882  


Genomics

Comparative Map Data
LOXL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381573,926,462 - 73,952,136 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1573,925,989 - 73,952,137 (+)EnsemblGRCh38hg38GRCh38
GRCh371574,218,803 - 74,244,477 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361572,005,842 - 72,031,531 (+)NCBINCBI36Build 36hg18NCBI36
Build 341572,005,872 - 72,031,529NCBI
Celera1551,098,617 - 51,121,842 (+)NCBICelera
Cytogenetic Map15q24.1NCBI
HuRef1551,050,475 - 51,076,334 (+)NCBIHuRef
CHM1_11574,336,766 - 74,362,440 (+)NCBICHM1_1
T2T-CHM13v2.01571,743,808 - 71,769,482 (+)NCBIT2T-CHM13v2.0
Loxl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39958,195,006 - 58,220,495 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl958,195,021 - 58,220,469 (-)EnsemblGRCm39 Ensembl
GRCm38958,287,723 - 58,313,212 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl958,287,738 - 58,313,186 (-)EnsemblGRCm38mm10GRCm38
MGSCv37958,135,530 - 58,161,019 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36958,086,738 - 58,111,322 (-)NCBIMGSCv36mm8
Celera955,521,427 - 55,546,968 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map931.65NCBI
Loxl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8867,587,636 - 67,612,224 (-)NCBIGRCr8
mRatBN7.2858,691,763 - 58,716,365 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl858,692,593 - 58,716,356 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx864,222,523 - 64,247,347 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0862,500,076 - 62,524,898 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0860,364,649 - 60,389,471 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0863,067,757 - 63,092,124 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl863,067,300 - 63,092,009 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0862,843,790 - 62,868,157 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4862,083,052 - 62,106,827 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1862,102,104 - 62,125,881 (-)NCBI
Celera858,155,183 - 58,178,908 (-)NCBICelera
Cytogenetic Map8q24NCBI
Loxl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554503,715,421 - 3,735,219 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554503,715,109 - 3,734,641 (-)NCBIChiLan1.0ChiLan1.0
LOXL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21663,148,803 - 63,174,918 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11567,313,664 - 67,339,431 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01552,835,675 - 52,861,324 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11571,592,037 - 71,616,540 (+)NCBIpanpan1.1PanPan1.1panPan2
LOXL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13037,191,201 - 37,204,163 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3037,183,128 - 37,204,058 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3037,115,569 - 37,136,800 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03037,387,023 - 37,408,267 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3037,388,729 - 37,410,953 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13037,338,990 - 37,360,204 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03037,365,837 - 37,385,844 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03037,622,173 - 37,642,217 (+)NCBIUU_Cfam_GSD_1.0
Loxl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640115,227,470 - 115,251,814 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647133,075,461 - 33,099,910 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647133,075,542 - 33,099,877 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOXL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl759,481,412 - 59,505,149 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1759,481,410 - 59,505,161 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2764,103,016 - 64,126,771 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOXL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1269,539,383 - 9,565,082 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl269,538,758 - 9,564,751 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048132,049,338 - 132,075,535 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Loxl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624781520,143 - 537,727 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624781518,703 - 537,657 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LOXL1
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005576.4(LOXL1):c.1102+1976T>C single nucleotide variant Exfoliation syndrome, susceptibility to [RCV000015436] Chr15:73929861 [GRCh38]
Chr15:74222202 [GRCh37]
Chr15:15q24.1		 risk factor
NM_005576.4(LOXL1):c.422G>T (p.Arg141Leu) single nucleotide variant Exfoliation syndrome, susceptibility to [RCV000015434] Chr15:73927205 [GRCh38]
Chr15:74219546 [GRCh37]
Chr15:15q24.1		 risk factor
NM_005576.4(LOXL1):c.458G>A (p.Gly153Asp) single nucleotide variant Exfoliation syndrome, susceptibility to [RCV000015435]|LOXL1-related disorder [RCV003974828] Chr15:73927241 [GRCh38]
Chr15:74219582 [GRCh37]
Chr15:15q24.1		 risk factor|benign
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3 copy number gain See cases [RCV000051821] Chr15:72629028..75242989 [GRCh38]
Chr15:72921369..75535330 [GRCh37]
Chr15:70708423..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.1(chr15:72671629-74051557)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052482]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052482]|See cases [RCV000052482] Chr15:72671629..74051557 [GRCh38]
Chr15:72963970..74343898 [GRCh37]
Chr15:70751023..72130951 [NCBI36]
Chr15:15q24.1		 pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1 copy number loss See cases [RCV000137347] Chr15:72671629..75199803 [GRCh38]
Chr15:72963970..75492144 [GRCh37]
Chr15:70751023..73279197 [NCBI36]
Chr15:15q24.1-24.2		 likely pathogenic|likely benign
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1 copy number loss See cases [RCV000142748] Chr15:72671629..75242989 [GRCh38]
Chr15:72963970..75535330 [GRCh37]
Chr15:70751023..73322383 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 copy number loss See cases [RCV000240271] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
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 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2		 not provided
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss See cases [RCV000510609] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 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
Single allele deletion not provided [RCV000677994] Chr15:72958539..75569605 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754166] Chr15:72640623..75277317 [GRCh38]
Chr15:15q24.1-24.2		 likely pathogenic
GRCh37/hg19 15q24.1(chr15:74219582-74221074)x3 copy number gain not provided [RCV000738820] Chr15:74219582..74221074 [GRCh37]
Chr15:15q24.1		 benign
GRCh37/hg19 15q24.1-24.2(chr15:72965159-75513545)x1 copy number loss not provided [RCV000751338] Chr15:72965159..75513545 [GRCh37]
Chr15:15q24.1-24.2		 uncertain significance
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
GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1 copy number loss not provided [RCV000848080] Chr15:72926922..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1 copy number loss not provided [RCV000849229] Chr15:72943184..75544524 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_005576.4(LOXL1):c.698G>T (p.Arg233Leu) single nucleotide variant not specified [RCV004284600] Chr15:73927481 [GRCh38]
Chr15:74219822 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1 copy number loss not provided [RCV001006709] Chr15:72943184..75567198 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_005576.4(LOXL1):c.432C>T (p.Thr144=) single nucleotide variant LOXL1-related disorder [RCV003930471]|not provided [RCV000879117] Chr15:73927215 [GRCh38]
Chr15:74219556 [GRCh37]
Chr15:15q24.1		 benign|likely benign
NM_005576.4(LOXL1):c.1467C>T (p.Phe489=) single nucleotide variant not provided [RCV000957319] Chr15:73947184 [GRCh38]
Chr15:74239525 [GRCh37]
Chr15:15q24.1		 benign
NC_000015.10:g.73952269A>G single nucleotide variant not provided [RCV001676329] Chr15:73952269 [GRCh38]
Chr15:74244610 [GRCh37]
Chr15:15q24.1		 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
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NC_000015.9:g.(?_72103084)_(74244178_?)del deletion Tay-Sachs disease [RCV001972852] Chr15:72103084..74244178 [GRCh37]
Chr15:15q23-24.1		 pathogenic
NC_000015.9:g.(?_72978569)_(75190071_?)dup duplication Bardet-Biedl syndrome [RCV003122929] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1043G>C (p.Gly348Ala) single nucleotide variant not specified [RCV004141709] Chr15:73927826 [GRCh38]
Chr15:74220167 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1384G>A (p.Asp462Asn) single nucleotide variant not specified [RCV004220184] Chr15:73947101 [GRCh38]
Chr15:74239442 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.221G>C (p.Arg74Pro) single nucleotide variant not specified [RCV004088199] Chr15:73927004 [GRCh38]
Chr15:74219345 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.988C>T (p.Pro330Ser) single nucleotide variant not specified [RCV004098743] Chr15:73927771 [GRCh38]
Chr15:74220112 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1492A>C (p.Thr498Pro) single nucleotide variant not specified [RCV004122745] Chr15:73947209 [GRCh38]
Chr15:74239550 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1609G>A (p.Val537Met) single nucleotide variant not specified [RCV004203420] Chr15:73949465 [GRCh38]
Chr15:74241806 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1042G>A (p.Gly348Ser) single nucleotide variant not specified [RCV004197379] Chr15:73927825 [GRCh38]
Chr15:74220166 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.202C>T (p.Arg68Cys) single nucleotide variant not specified [RCV004088326] Chr15:73926985 [GRCh38]
Chr15:74219326 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.259C>G (p.Arg87Gly) single nucleotide variant not specified [RCV004198937] Chr15:73927042 [GRCh38]
Chr15:74219383 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.203G>A (p.Arg68His) single nucleotide variant not specified [RCV004175783] Chr15:73926986 [GRCh38]
Chr15:74219327 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.427C>T (p.Arg143Cys) single nucleotide variant not specified [RCV004152645] Chr15:73927210 [GRCh38]
Chr15:74219551 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1313G>A (p.Arg438Gln) single nucleotide variant not specified [RCV004182951] Chr15:73946518 [GRCh38]
Chr15:74238859 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.998C>G (p.Pro333Arg) single nucleotide variant not specified [RCV004217813] Chr15:73927781 [GRCh38]
Chr15:74220122 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1567A>C (p.Ile523Leu) single nucleotide variant not specified [RCV004261710] Chr15:73947867 [GRCh38]
Chr15:74240208 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.910G>C (p.Asp304His) single nucleotide variant not specified [RCV004279501] Chr15:73927693 [GRCh38]
Chr15:74220034 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_005576.4(LOXL1):c.758C>T (p.Pro253Leu) single nucleotide variant not specified [RCV004262628] Chr15:73927541 [GRCh38]
Chr15:74219882 [GRCh37]
Chr15:15q24.1		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_005576.4(LOXL1):c.143A>G (p.Asn48Ser) single nucleotide variant not specified [RCV004362913] Chr15:73926926 [GRCh38]
Chr15:74219267 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.581C>A (p.Ala194Glu) single nucleotide variant not specified [RCV004345023] Chr15:73927364 [GRCh38]
Chr15:74219705 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.478G>C (p.Ala160Pro) single nucleotide variant not provided [RCV003394989] Chr15:73927261 [GRCh38]
Chr15:74219602 [GRCh37]
Chr15:15q24.1		 likely benign
NM_005576.4(LOXL1):c.475T>G (p.Ser159Ala) single nucleotide variant LOXL1-related disorder [RCV003972179] Chr15:73927258 [GRCh38]
Chr15:74219599 [GRCh37]
Chr15:15q24.1		 benign
NM_005576.4(LOXL1):c.327C>T (p.Asp109=) single nucleotide variant LOXL1-related disorder [RCV003964766] Chr15:73927110 [GRCh38]
Chr15:74219451 [GRCh37]
Chr15:15q24.1		 likely benign
NM_005576.4(LOXL1):c.876C>T (p.Asp292=) single nucleotide variant LOXL1-related disorder [RCV003921850] Chr15:73927659 [GRCh38]
Chr15:74220000 [GRCh37]
Chr15:15q24.1		 benign
NM_005576.4(LOXL1):c.1699A>G (p.Thr567Ala) single nucleotide variant LOXL1-related disorder [RCV003932243] Chr15:73949555 [GRCh38]
Chr15:74241896 [GRCh37]
Chr15:15q24.1		 benign
NM_005576.4(LOXL1):c.482C>T (p.Ser161Leu) single nucleotide variant LOXL1-related disorder [RCV003924145] Chr15:73927265 [GRCh38]
Chr15:74219606 [GRCh37]
Chr15:15q24.1		 benign
NM_005576.4(LOXL1):c.1052A>C (p.Gln351Pro) single nucleotide variant not specified [RCV004410440] Chr15:73927835 [GRCh38]
Chr15:74220176 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1235C>G (p.Thr412Ser) single nucleotide variant not specified [RCV004410441] Chr15:73946440 [GRCh38]
Chr15:74238781 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.273C>A (p.Ser91Arg) single nucleotide variant not specified [RCV004410442] Chr15:73927056 [GRCh38]
Chr15:74219397 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.288G>T (p.Gln96His) single nucleotide variant not specified [RCV004410443] Chr15:73927071 [GRCh38]
Chr15:74219412 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.357C>A (p.Phe119Leu) single nucleotide variant not specified [RCV004410444] Chr15:73927140 [GRCh38]
Chr15:74219481 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.910G>A (p.Asp304Asn) single nucleotide variant not specified [RCV004410445] Chr15:73927693 [GRCh38]
Chr15:74220034 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.290C>T (p.Ala97Val) single nucleotide variant not specified [RCV004637358] Chr15:73927073 [GRCh38]
Chr15:74219414 [GRCh37]
Chr15:15q24.1		 uncertain significance
NC_000015.9:g.(?_74219125)_(77329517_?)del deletion Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [RCV004583017] Chr15:74219125..77329517 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
NC_000015.9:g.(?_72978569)_(75190071_?)del deletion Brugada syndrome 8 [RCV004583054] Chr15:72978569..75190071 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.1096G>C (p.Gly366Arg) single nucleotide variant not specified [RCV004637360] Chr15:73927879 [GRCh38]
Chr15:74220220 [GRCh37]
Chr15:15q24.1		 uncertain significance
NM_005576.4(LOXL1):c.980T>C (p.Leu327Pro) single nucleotide variant not specified [RCV004637359] Chr15:73927763 [GRCh38]
Chr15:74220104 [GRCh37]
Chr15:15q24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1640
Count of miRNA genes:724
Interacting mature miRNAs:831
Transcripts:ENST00000261921, ENST00000562548, ENST00000566011, ENST00000566530, ENST00000567675
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406945605GWAS594581_HBMI-adjusted waist-hip ratio QTL GWAS594581 (human)9e-10BMI-adjusted waist-hip ratio157393304773933048Human
407022662GWAS671638_Hbody height QTL GWAS671638 (human)7e-09body height (VT:0001253)body height (CMO:0000106)157393442473934425Human
407176768GWAS825744_Haortic measurement QTL GWAS825744 (human)1e-13aortic measurementaorta measurement (CMO:0001474)157392720573927206Human
407099205GWAS748181_Hbody height QTL GWAS748181 (human)4e-54body height (VT:0001253)body height (CMO:0000106)157393646973936470Human
407260750GWAS909726_Htotal cortical area measurement QTL GWAS909726 (human)2e-08total cortical area measurement157392986173929862Human
407328335GWAS977311_HBMI-adjusted waist circumference QTL GWAS977311 (human)4e-08BMI-adjusted waist circumference157394336373943364Human
407046728GWAS695704_Hdescending aortic diameter QTL GWAS695704 (human)6e-10descending aortic diameter157392720573927206Human
407179598GWAS828574_Hdescending aortic diameter QTL GWAS828574 (human)1e-10descending aortic diameter157392720573927206Human
407290957GWAS939933_Haortic measurement QTL GWAS939933 (human)2e-08aortic measurementaorta measurement (CMO:0001474)157393265573932656Human
406929994GWAS578970_Hbrain volume measurement QTL GWAS578970 (human)2e-09brain volume measurementbrain morphological measurement (CMO:0000136)157393304773933048Human
407093064GWAS742040_HBMI-adjusted waist-hip ratio QTL GWAS742040 (human)3e-12BMI-adjusted waist-hip ratio157393436773934368Human
407357000GWAS1005976_Hpulse pressure measurement QTL GWAS1005976 (human)2e-10pulse pressure measurementpulse pressure (CMO:0000292)157393672473936725Human
406979152GWAS628128_Hsystolic blood pressure QTL GWAS628128 (human)6e-09systolic blood pressuresystolic blood pressure (CMO:0000004)157393064673930647Human
407046486GWAS695462_Hopen-angle glaucoma QTL GWAS695462 (human)2e-08open-angle glaucoma157392895773928958Human
407179359GWAS828335_Haortic measurement QTL GWAS828335 (human)2e-08aortic measurementaorta measurement (CMO:0001474)157392720573927206Human
406952541GWAS601517_HBMI-adjusted waist circumference QTL GWAS601517 (human)4e-09BMI-adjusted waist circumference157393646973936470Human
407276634GWAS925610_Hbody height QTL GWAS925610 (human)3e-117body height (VT:0001253)body height (CMO:0000106)157394477973944780Human
407276635GWAS925611_Hbody height QTL GWAS925611 (human)2e-177body height (VT:0001253)body height (CMO:0000106)157395200373952004Human
407276633GWAS925609_Hbody height QTL GWAS925609 (human)1e-300body height (VT:0001253)body height (CMO:0000106)157392986173929862Human
406952542GWAS601518_HBMI-adjusted waist circumference QTL GWAS601518 (human)6e-09BMI-adjusted waist circumference157393646973936470Human
407185764GWAS834740_Hcup-to-disc ratio measurement QTL GWAS834740 (human)3e-09cup-to-disc ratio measurement157393831973938320Human
407262308GWAS911284_Hbrain volume measurement QTL GWAS911284 (human)8e-09brain volume measurementbrain morphological measurement (CMO:0000136)157392986173929862Human
406913635GWAS562611_Hdiastolic blood pressure, systolic blood pressure QTL GWAS562611 (human)0.0000003diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)157393718373937184Human
407050593GWAS699569_Hbody height QTL GWAS699569 (human)4e-12body height (VT:0001253)body height (CMO:0000106)157394916573949166Human
406935138GWAS584114_Hskin aging measurement QTL GWAS584114 (human)5e-19skin aging measurement157392881673928817Human
406950501GWAS599477_Hexfoliation syndrome QTL GWAS599477 (human)5e-29exfoliation syndrome157393265573932656Human
406926692GWAS575668_Hbody fat distribution QTL GWAS575668 (human)1e-18body fat distributionbody fat morphological measurement (CMO:0000089)157394009673940097Human
406950502GWAS599478_Hexfoliation syndrome QTL GWAS599478 (human)2e-217exfoliation syndrome157393265573932656Human
406937448GWAS586424_HBMI-adjusted waist circumference QTL GWAS586424 (human)0.000005BMI-adjusted waist circumference157393646973936470Human
407035755GWAS684731_Hvital capacity QTL GWAS684731 (human)6e-27vital capacity157395090573950906Human
407179369GWAS828345_Haortic measurement QTL GWAS828345 (human)4e-09aortic measurementaorta measurement (CMO:0001474)157392720573927206Human
406971501GWAS620477_Hexfoliation syndrome QTL GWAS620477 (human)3e-21exfoliation syndrome157392724173927242Human
406935924GWAS584900_HBMI-adjusted waist circumference QTL GWAS584900 (human)4e-10BMI-adjusted waist circumference157393646973936470Human
406935934GWAS584910_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS584910 (human)2e-09BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)157393646973936470Human
406987527GWAS636503_Hgrip strength measurement QTL GWAS636503 (human)6e-10grip strength measurement157393077773930778Human
406936332GWAS585308_HBMI-adjusted waist circumference QTL GWAS585308 (human)2e-10smoking behavior, BMI-adjusted waist circumference157393646973936470Human
407357975GWAS1006951_HBMI-adjusted waist circumference QTL GWAS1006951 (human)3e-08BMI-adjusted waist circumference157395004273950043Human
407357974GWAS1006950_HBMI-adjusted waist circumference QTL GWAS1006950 (human)1e-17BMI-adjusted waist circumference157394336373943364Human
406927635GWAS576611_Hbody fat distribution QTL GWAS576611 (human)1e-14body fat distributionbody fat morphological measurement (CMO:0000089)157394009673940097Human
407294227GWAS943203_Hbody height QTL GWAS943203 (human)1e-08body height (VT:0001253)body height (CMO:0000106)157394916573949166Human
407035925GWAS684901_Hheel bone mineral density QTL GWAS684901 (human)1e-09heel bone mineral densitybone mineral density (CMO:0001226)157394256173942562Human
406924057GWAS573033_Hbody fat distribution QTL GWAS573033 (human)2e-21body fat distributionbody fat morphological measurement (CMO:0000089)157394009673940097Human
407357976GWAS1006952_HBMI-adjusted waist circumference QTL GWAS1006952 (human)2e-10BMI-adjusted waist circumference157395067173950672Human
407078432GWAS727408_Hcup-to-disc ratio measurement QTL GWAS727408 (human)6e-12cup-to-disc ratio measurement157393672473936725Human
406960677GWAS609653_Hbody height QTL GWAS609653 (human)7e-14body height (VT:0001253)body height (CMO:0000106)157393646973936470Human
407359265GWAS1008241_Hpulse pressure measurement QTL GWAS1008241 (human)3e-08pulse pressure measurementpulse pressure (CMO:0000292)157393672473936725Human
407253537GWAS902513_Hmyocardial infarction QTL GWAS902513 (human)0.000008myocardial infarction157393951673939517Human
406975782GWAS624758_Hforced expiratory volume QTL GWAS624758 (human)9e-17forced expiratory volumeforced expiratory volume (CMO:0000254)157395090573950906Human
407352623GWAS1001599_HBMI-adjusted waist-hip ratio QTL GWAS1001599 (human)3e-08BMI-adjusted waist-hip ratio157394256173942562Human
407193387GWAS842363_Hcarpal tunnel syndrome QTL GWAS842363 (human)8e-10carpal tunnel syndrome157392720573927206Human
407301160GWAS950136_Hpelvic organ prolapse QTL GWAS950136 (human)4e-08pelvic organ prolapse157393304773933048Human
406920244GWAS569220_Hglaucoma QTL GWAS569220 (human)5e-21glaucoma157392895773928958Human
407060534GWAS709510_Hbody fat distribution QTL GWAS709510 (human)0.000001body fat distributionbody fat morphological measurement (CMO:0000089)157394009673940097Human
407085364GWAS734340_Hexfoliation syndrome QTL GWAS734340 (human)3e-10exfoliation syndrome157392986173929862Human
407110973GWAS759949_Hwaist-hip ratio QTL GWAS759949 (human)2e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)157393909873939099Human
406978878GWAS627854_Hsystolic blood pressure QTL GWAS627854 (human)0.0000001systolic blood pressuresystolic blood pressure (CMO:0000004)157393064673930647Human
406936637GWAS585613_Hsmoking behavior, BMI-adjusted waist circumference QTL GWAS585613 (human)1e-10smoking behavior, BMI-adjusted waist circumference157393646973936470Human
407126840GWAS775816_Haortic root size QTL GWAS775816 (human)0.000003aortic root size157393672473936725Human
407281350GWAS930326_Hcup-to-disc ratio measurement QTL GWAS930326 (human)1e-11cup-to-disc ratio measurement157393605073936051Human
407244483GWAS893459_Hcarotid artery intima media thickness QTL GWAS893459 (human)8e-09carotid artery intima media thickness157394256173942562Human
407045579GWAS694555_Hopen-angle glaucoma QTL GWAS694555 (human)1e-09open-angle glaucoma157392970273929703Human
406950859GWAS599835_HBMI-adjusted waist circumference QTL GWAS599835 (human)6e-12BMI-adjusted waist circumference157393646973936470Human
407416261GWAS1065237_Hpulse pressure measurement QTL GWAS1065237 (human)5e-08pulse pressure measurementpulse pressure (CMO:0000292)157393672473936725Human
406936782GWAS585758_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS585758 (human)6e-10BMI-adjusted waist circumference, physical activity measurementvoluntary body movement measurement (CMO:0000954)157393646973936470Human
406946769GWAS595745_Hcoronary artery disease QTL GWAS595745 (human)2e-11coronary artery disease157393137573931376Human
407295700GWAS944676_HBMI-adjusted waist circumference QTL GWAS944676 (human)7e-09BMI-adjusted waist circumference157395067173950672Human
406952146GWAS601122_HBMI-adjusted waist circumference QTL GWAS601122 (human)7e-11BMI-adjusted waist circumference157393646973936470Human
407196625GWAS845601_Hopen-angle glaucoma QTL GWAS845601 (human)5e-35open-angle glaucoma157392724173927242Human
407019478GWAS668454_Hbody height QTL GWAS668454 (human)1e-08body height (VT:0001253)body height (CMO:0000106)157393909873939099Human
407295699GWAS944675_HBMI-adjusted waist circumference QTL GWAS944675 (human)2e-10BMI-adjusted waist circumference157392881673928817Human
407359952GWAS1008928_HAntiglaucoma preparations and miotics use measurement QTL GWAS1008928 (human)1e-11Antiglaucoma preparations and miotics use measurement157393469673934697Human
407187165GWAS836141_Hcoronary artery disease QTL GWAS836141 (human)0.000004coronary artery disease157393137573931376Human
406951641GWAS600617_HBMI-adjusted waist circumference QTL GWAS600617 (human)5e-08BMI-adjusted waist circumference157393646973936470Human
407008985GWAS657961_HAbnormality of refraction QTL GWAS657961 (human)2e-18Abnormality of refraction157393108973931090Human
407180760GWAS829736_Haortic measurement QTL GWAS829736 (human)7e-14aortic measurementaorta measurement (CMO:0001474)157392720573927206Human
407071966GWAS720942_Hanthropometric measurement QTL GWAS720942 (human)2e-08anthropometric measurementbody morphological measurement (CMO:0000021)157392825873928259Human
406899165GWAS548141_Hdiastolic blood pressure, systolic blood pressure QTL GWAS548141 (human)1e-08diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)157393718373937184Human
407011805GWAS660781_Hrefractive error QTL GWAS660781 (human)3e-11refractive error157393718373937184Human
407046119GWAS695095_Hopen-angle glaucoma QTL GWAS695095 (human)4e-13open-angle glaucoma157392895773928958Human
406987495GWAS636471_Hbody height QTL GWAS636471 (human)3e-08body height (VT:0001253)body height (CMO:0000106)157393646973936470Human
407261167GWAS910143_HAbdominal Aortic Aneurysm QTL GWAS910143 (human)7e-13Abdominal Aortic Aneurysm157393380473933805Human
406994153GWAS643129_Hdiverticular disease QTL GWAS643129 (human)0.0000007diverticular disease157393436773934368Human
407003886GWAS652862_Hvital capacity QTL GWAS652862 (human)4e-18vital capacity157393379773933798Human
406996462GWAS645438_HBMI-adjusted waist circumference QTL GWAS645438 (human)4e-13BMI-adjusted waist circumference157395140373951404Human
406996463GWAS645439_HBMI-adjusted waist circumference QTL GWAS645439 (human)1e-26BMI-adjusted waist circumference157393304773933048Human
407351027GWAS1000003_Hopen-angle glaucoma QTL GWAS1000003 (human)1e-14open-angle glaucoma157393064673930647Human
406940289GWAS589265_Hsmoking behavior, BMI-adjusted waist circumference QTL GWAS589265 (human)8e-11smoking behavior, BMI-adjusted waist circumference157393646973936470Human
406936449GWAS585425_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS585425 (human)3e-10BMI-adjusted waist circumferencevoluntary body movement measurement (CMO:0000954)157393646973936470Human
407042690GWAS691666_Hsexual dimorphism measurement QTL GWAS691666 (human)3e-10sexual dimorphism measurement157394256173942562Human
407415947GWAS1064923_Hpulse pressure measurement QTL GWAS1064923 (human)3e-09pulse pressure measurementpulse pressure (CMO:0000292)157393064673930647Human
407320706GWAS969682_Haortic measurement QTL GWAS969682 (human)5e-09aortic measurementaorta measurement (CMO:0001474)157393265573932656Human
406931590GWAS580566_Hbody fat distribution QTL GWAS580566 (human)5e-08body fat distributionbody fat morphological measurement (CMO:0000089)157394009673940097Human
406938253GWAS587229_HBMI-adjusted waist circumference QTL GWAS587229 (human)0.0000004BMI-adjusted waist circumference157393646973936470Human
406981526GWAS630502_Hbody height QTL GWAS630502 (human)6e-82body height (VT:0001253)body height (CMO:0000106)157393646973936470Human
406937494GWAS586470_HBMI-adjusted waist circumference QTL GWAS586470 (human)2e-08BMI-adjusted waist circumference157393646973936470Human
407087515GWAS736491_Hcoronary artery disease QTL GWAS736491 (human)0.000003coronary artery disease157393137573931376Human
406935704GWAS584680_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS584680 (human)1e-09BMI-adjusted waist circumferencevoluntary body movement measurement (CMO:0000954)157393646973936470Human
407015326GWAS664302_Hbody height QTL GWAS664302 (human)6e-20body height (VT:0001253)body height (CMO:0000106)157393646973936470Human
407015328GWAS664304_Hbody height QTL GWAS664304 (human)3e-14body height (VT:0001253)body height (CMO:0000106)157395200373952004Human
407005857GWAS654833_Hopen-angle glaucoma QTL GWAS654833 (human)1e-18open-angle glaucoma157392895773928958Human
407005862GWAS654838_Hopen-angle glaucoma QTL GWAS654838 (human)2e-09open-angle glaucoma157393128273931283Human
406962085GWAS611061_Hexfoliation syndrome QTL GWAS611061 (human)3e-84exfoliation syndrome157393685473936855Human
407364770GWAS1013746_Hsystolic blood pressure QTL GWAS1013746 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)157393064673930647Human
406968488GWAS617464_Hpulse pressure measurement QTL GWAS617464 (human)0.000001pulse pressure measurementpulse pressure (CMO:0000292)157393064673930647Human
407077800GWAS726776_Hcup-to-disc ratio measurement QTL GWAS726776 (human)3e-09cup-to-disc ratio measurement157393672473936725Human
407121321GWAS770297_Hvital capacity QTL GWAS770297 (human)1e-15vital capacity157393442473934425Human
407180465GWAS829441_Hdescending aortic diameter QTL GWAS829441 (human)2e-11descending aortic diameter157392720573927206Human
407056053GWAS705029_Hpelvic organ prolapse QTL GWAS705029 (human)0.000004pelvic organ prolapse157393909873939099Human
406925242GWAS574218_Happendicular lean mass QTL GWAS574218 (human)5e-09appendicular lean mass157394174173941742Human
406923965GWAS572941_Hbody fat distribution QTL GWAS572941 (human)3e-26body fat distributionbody fat morphological measurement (CMO:0000089)157394009673940097Human

Markers in Region
D15S818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,230,567 - 74,230,709UniSTSGRCh37
Build 361572,017,620 - 72,017,762RGDNCBI36
Celera1551,107,928 - 51,108,078RGD
Cytogenetic Map15q22UniSTS
Cytogenetic Map15q24.1UniSTS
HuRef1551,062,420 - 51,062,570UniSTS
Marshfield Genetic Map1571.82RGD
Marshfield Genetic Map1571.82UniSTS
deCODE Assembly Map1579.03UniSTS
Stanford-G3 RH Map152554.0UniSTS
Whitehead-RH Map15251.5UniSTS
WI-18919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,244,318 - 74,244,463UniSTSGRCh37
Build 361572,031,371 - 72,031,516RGDNCBI36
Celera1551,121,682 - 51,121,827RGD
Cytogenetic Map15q22UniSTS
HuRef1551,076,174 - 51,076,319UniSTS
GeneMap99-GB4 RH Map15252.15UniSTS
Whitehead-RH Map15248.3UniSTS
RH80820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,244,200 - 74,244,446UniSTSGRCh37
Build 361572,031,253 - 72,031,499RGDNCBI36
Celera1551,121,564 - 51,121,810RGD
Cytogenetic Map15q22UniSTS
HuRef1551,076,056 - 51,076,302UniSTS
GeneMap99-GB4 RH Map15258.81UniSTS
G59811  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,244,343 - 74,244,446UniSTSGRCh37
Build 361572,031,396 - 72,031,499RGDNCBI36
Celera1551,121,707 - 51,121,810RGD
Cytogenetic Map15q22UniSTS
HuRef1551,076,199 - 51,076,302UniSTS
SHGC-106501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371574,236,564 - 74,236,912UniSTSGRCh37
Build 361572,023,617 - 72,023,965RGDNCBI36
Celera1551,113,929 - 51,114,277RGD
Cytogenetic Map15q22UniSTS
HuRef1551,068,421 - 51,068,769UniSTS


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 2429 2788 2235 4952 1718 2342 6 617 1465 458 2250 6821 6003 51 3733 1 847 1739 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI565419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL529650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE205920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L21186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000261921   ⟹   ENSP00000261921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,926,462 - 73,952,136 (+)Ensembl
Ensembl Acc Id: ENST00000562548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,947,216 - 73,952,137 (+)Ensembl
Ensembl Acc Id: ENST00000566011   ⟹   ENSP00000457827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,925,989 - 73,951,919 (+)Ensembl
Ensembl Acc Id: ENST00000566530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,946,368 - 73,949,575 (+)Ensembl
Ensembl Acc Id: ENST00000567675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1573,947,828 - 73,952,136 (+)Ensembl
RefSeq Acc Id: NM_005576   ⟹   NP_005567
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,926,462 - 73,952,136 (+)NCBI
GRCh371574,218,789 - 74,244,478 (+)ENTREZGENE
Build 361572,005,842 - 72,031,531 (+)NCBI Archive
HuRef1551,050,475 - 51,076,334 (+)ENTREZGENE
CHM1_11574,336,776 - 74,362,444 (+)NCBI
T2T-CHM13v2.01571,743,808 - 71,769,482 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011521555   ⟹   XP_011519857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,926,462 - 73,942,647 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022179   ⟹   XP_016877668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,942,214 - 73,952,136 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432498   ⟹   XP_047288454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,926,462 - 73,942,947 (+)NCBI
RefSeq Acc Id: XM_054377901   ⟹   XP_054233876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01571,743,808 - 71,759,993 (+)NCBI
RefSeq Acc Id: XM_054377902   ⟹   XP_054233877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01571,743,808 - 71,760,293 (+)NCBI
RefSeq Acc Id: XM_054377903   ⟹   XP_054233878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01571,759,560 - 71,769,482 (+)NCBI
RefSeq Acc Id: NP_005567   ⟸   NM_005576
- Peptide Label: preproprotein
- UniProtKB: Q6NUL3 (UniProtKB/Swiss-Prot),   Q96BW7 (UniProtKB/Swiss-Prot),   Q08397 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519857   ⟸   XM_011521555
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016877668   ⟸   XM_017022179
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000261921   ⟸   ENST00000261921
Ensembl Acc Id: ENSP00000457827   ⟸   ENST00000566011
RefSeq Acc Id: XP_047288454   ⟸   XM_047432498
- Peptide Label: isoform X2
- UniProtKB: H3BUV8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233877   ⟸   XM_054377902
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233876   ⟸   XM_054377901
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233878   ⟸   XM_054377903
- Peptide Label: isoform X3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q08397-F1-model_v2 AlphaFold Q08397 1-574 view protein structure

Promoters
RGD ID:6792421
Promoter ID:HG_KWN:21870
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000395162,   NM_005576
Position:
Human AssemblyChrPosition (strand)Source
Build 361572,006,301 - 72,006,801 (+)MPROMDB
RGD ID:7230047
Promoter ID:EPDNEW_H20769
Type:initiation region
Name:LOXL1_2
Description:lysyl oxidase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20770  EPDNEW_H20771  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,925,794 - 73,925,854EPDNEW
RGD ID:7230049
Promoter ID:EPDNEW_H20770
Type:initiation region
Name:LOXL1_1
Description:lysyl oxidase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20769  EPDNEW_H20771  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,926,462 - 73,926,522EPDNEW
RGD ID:7230051
Promoter ID:EPDNEW_H20771
Type:initiation region
Name:LOXL1_3
Description:lysyl oxidase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20769  EPDNEW_H20770  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381573,926,639 - 73,926,699EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6665 AgrOrtholog
COSMIC LOXL1 COSMIC
Ensembl Genes ENSG00000129038 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261921 ENTREZGENE
  ENST00000261921.8 UniProtKB/Swiss-Prot
  ENST00000566011 ENTREZGENE
  ENST00000566011.5 UniProtKB/TrEMBL
GTEx ENSG00000129038 GTEx
HGNC ID HGNC:6665 ENTREZGENE
Human Proteome Map LOXL1 Human Proteome Map
InterPro LOX-like_protein UniProtKB/Swiss-Prot
  Lysyl_oxidase UniProtKB/Swiss-Prot
  Lysyl_oxidase_CS UniProtKB/Swiss-Prot
KEGG Report hsa:4016 UniProtKB/Swiss-Prot
NCBI Gene 4016 ENTREZGENE
OMIM 153456 OMIM
PANTHER LYSYL OXIDASE HOMOLOG 1 UniProtKB/Swiss-Prot
  LYSYL OXIDASE-LIKE-RELATED UniProtKB/Swiss-Prot
Pfam Lysyl_oxidase UniProtKB/Swiss-Prot
PharmGKB PA30428 PharmGKB
PRINTS LYSYLOXIDASE UniProtKB/Swiss-Prot
PROSITE LYSYL_OXIDASE UniProtKB/Swiss-Prot
UniProt H3BUV8 ENTREZGENE, UniProtKB/TrEMBL
  LOXL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6NUL3 ENTREZGENE
  Q96BW7 ENTREZGENE
UniProt Secondary Q6NUL3 UniProtKB/Swiss-Prot
  Q96BW7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LOXL1  lysyl oxidase like 1  LOXL1  lysyl oxidase-like 1  Symbol and/or name change 5135510 APPROVED