RNLS (renalase, FAD dependent amine oxidase) - Rat Genome Database

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Gene: RNLS (renalase, FAD dependent amine oxidase) Homo sapiens
Analyze
Symbol: RNLS
Name: renalase, FAD dependent amine oxidase
RGD ID: 1320337
HGNC Page HGNC:25641
Description: Enables several functions, including NADH binding activity; epinephrine binding activity; and monoamine oxidase activity. Involved in negative regulation of blood pressure and negative regulation of heart rate. Located in extracellular region. Implicated in essential hypertension and hypertension. Biomarker of end stage renal disease.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: alpha-NAD(P)H oxidase/anomerase; C10orf59; FLJ11218; MAO-C; monoamine oxidase-C; renalase; renalase, FAD-dependent amine oxidase
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
GRCh381088,171,523 - 88,583,318 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1088,273,864 - 88,584,530 (-)EnsemblGRCh38hg38GRCh38
GRCh371090,033,619 - 90,343,075 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361090,023,601 - 90,332,988 (-)NCBINCBI36Build 36hg18NCBI36
Build 341090,023,600 - 90,332,988NCBI
Celera1083,780,492 - 84,089,897 (-)NCBICelera
Cytogenetic Map10q23.31NCBI
HuRef1083,668,375 - 83,977,653 (-)NCBIHuRef
CHM1_11090,315,752 - 90,625,158 (-)NCBICHM1_1
T2T-CHM13v2.01089,157,945 - 89,467,392 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IBA,IDA,IEA,TAS)
extracellular space  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Renalase gene polymorphisms in patients with type 2 diabetes, hypertension and stroke. Buraczynska M, etal., Neuromolecular Med. 2011 Dec;13(4):321-7. doi: 10.1007/s12017-011-8158-6. Epub 2011 Oct 2.
2. Renalase deficiency in heart failure model of rats--a potential mechanism underlying circulating norepinephrine accumulation. Gu R, etal., PLoS One. 2011 Jan 31;6(1):e14633. doi: 10.1371/journal.pone.0014633.
3. Lisinopril Protects Against the Adriamycin Nephropathy and Reverses the Renalase Reduction: Potential Role of Renalase in Adriamycin Nephropathy. Han P, etal., Kidney Blood Press Res. 2013 Sep 5;37(4-5):295-304.
4. Renalase protects against ischemic AKI. Lee HT, etal., J Am Soc Nephrol. 2013 Feb;24(3):445-55. doi: 10.1681/ASN.2012090943. Epub 2013 Feb 7.
5. Catecholamines regulate the activity, secretion, and synthesis of renalase. Li G, etal., Circulation. 2008 Mar 11;117(10):1277-82. doi: 10.1161/CIRCULATIONAHA.107.732032. Epub 2008 Feb 25.
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. Polymorphism of the renalase gene in end-stage renal disease patients affected by hypertension. Stec A, etal., Nephrol Dial Transplant. 2012 Nov;27(11):4162-6. doi: 10.1093/ndt/gfr293. Epub 2011 May 26.
9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
10. Renalase deficiency aggravates ischemic myocardial damage. Wu Y, etal., Kidney Int. 2011 Apr;79(8):853-60. doi: 10.1038/ki.2010.488. Epub 2010 Dec 22.
11. Renalase is a novel, soluble monoamine oxidase that regulates cardiac function and blood pressure. Xu J, etal., J Clin Invest. 2005 May;115(5):1275-80. Epub 2005 Apr 7.
12. Renalase gene is a novel susceptibility gene for essential hypertension: a two-stage association study in northern Han Chinese population. Zhao Q, etal., J Mol Med (Berl). 2007 Aug;85(8):877-85. Epub 2007 Jan 10.
Additional References at PubMed
PMID:8889548   PMID:14702039   PMID:15164054   PMID:15342556   PMID:15489334   PMID:16385451   PMID:17207965   PMID:17565281   PMID:17846126   PMID:19430480   PMID:19471322   PMID:20168325  
PMID:20302943   PMID:20975995   PMID:21163940   PMID:21424526   PMID:21699903   PMID:21873635   PMID:21996211   PMID:22172866   PMID:22227817   PMID:22539018   PMID:22812913   PMID:22891215  
PMID:23271136   PMID:23375328   PMID:23530612   PMID:23564542   PMID:23964689   PMID:24014100   PMID:24266457   PMID:24511138   PMID:24590362   PMID:24821235   PMID:24923329   PMID:25060760  
PMID:25295465   PMID:25380930   PMID:25484193   PMID:25531177   PMID:25855559   PMID:25900362   PMID:25906147   PMID:26049000   PMID:26431044   PMID:26716738   PMID:26972355   PMID:27023477  
PMID:27147460   PMID:27155338   PMID:27197188   PMID:27434211   PMID:27507673   PMID:27577995   PMID:27769837   PMID:27778420   PMID:27871085   PMID:28238213   PMID:28372594   PMID:28604741  
PMID:28954489   PMID:29042438   PMID:29065134   PMID:29172403   PMID:29944173   PMID:30074185   PMID:30181378   PMID:30304564   PMID:30630613   PMID:31293181   PMID:31579970   PMID:31737132  
PMID:32338092   PMID:34156537   PMID:34587190   PMID:34603559   PMID:34680147   PMID:34724880   PMID:35104783   PMID:35322081   PMID:36697349  


Genomics

Comparative Map Data
RNLS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381088,171,523 - 88,583,318 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1088,273,864 - 88,584,530 (-)EnsemblGRCh38hg38GRCh38
GRCh371090,033,619 - 90,343,075 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361090,023,601 - 90,332,988 (-)NCBINCBI36Build 36hg18NCBI36
Build 341090,023,600 - 90,332,988NCBI
Celera1083,780,492 - 84,089,897 (-)NCBICelera
Cytogenetic Map10q23.31NCBI
HuRef1083,668,375 - 83,977,653 (-)NCBIHuRef
CHM1_11090,315,752 - 90,625,158 (-)NCBICHM1_1
T2T-CHM13v2.01089,157,945 - 89,467,392 (-)NCBIT2T-CHM13v2.0
Rnls
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391933,115,140 - 33,369,695 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1933,115,147 - 33,369,665 (-)EnsemblGRCm39 Ensembl
GRCm381933,137,740 - 33,392,295 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1933,137,747 - 33,392,295 (-)EnsemblGRCm38mm10GRCm38
MGSCv371933,212,234 - 33,466,785 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361933,203,744 - 33,458,836 (-)NCBIMGSCv36mm8
Celera1933,919,313 - 34,173,994 (-)NCBICelera
Cytogenetic Map19C1NCBI
Rnls
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21231,037,481 - 231,309,855 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1231,037,486 - 231,309,823 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1239,414,353 - 239,688,126 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01246,344,061 - 246,617,558 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01239,182,149 - 239,455,647 (-)NCBIRnor_WKY
Rnor_6.01251,828,285 - 252,101,963 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1251,828,290 - 252,100,759 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01259,052,388 - 259,324,901 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41237,364,578 - 237,639,800 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11237,528,600 - 237,803,823 (-)NCBI
Celera1228,151,441 - 228,423,443 (-)NCBICelera
Cytogenetic Map1q52NCBI
Rnls
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554254,368,620 - 4,667,947 (+)NCBIChiLan1.0ChiLan1.0
RNLS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11088,502,588 - 88,809,439 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1088,503,683 - 88,808,990 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01084,996,999 - 85,304,240 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
RNLS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12638,137,662 - 38,413,666 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2638,083,371 - 38,414,033 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2637,955,732 - 38,233,014 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02639,670,571 - 40,000,185 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2639,702,516 - 40,000,302 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12637,574,898 - 37,840,447 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02637,159,099 - 37,435,881 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02638,428,192 - 38,705,871 (-)NCBIUU_Cfam_GSD_1.0
Rnls
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721377,744,737 - 78,131,700 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936735659,826 - 1,048,135 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RNLS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14100,317,625 - 100,605,063 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114100,312,592 - 100,604,953 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214109,298,823 - 109,589,104 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RNLS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1981,725,115 - 82,029,361 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604842,407,027 - 42,707,316 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rnls
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479114,542,625 - 14,873,393 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RNLS
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q23.31(chr10:88439108-88978831)x3 copy number gain See cases [RCV000050707] Chr10:88439108..88978831 [GRCh38]
Chr10:90198865..90738588 [GRCh37]
Chr10:90188845..90728568 [NCBI36]
Chr10:10q23.31		 uncertain significance
GRCh38/hg38 10q23.2-23.31(chr10:86727432-89201768)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052561]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052561]|See cases [RCV000052561] Chr10:86727432..89201768 [GRCh38]
Chr10:88487189..90961525 [GRCh37]
Chr10:88477169..90951505 [NCBI36]
Chr10:10q23.2-23.31		 pathogenic
GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 copy number gain See cases [RCV000053559] Chr10:84434981..89150802 [GRCh38]
Chr10:86194737..90910559 [GRCh37]
Chr10:86184717..90900539 [NCBI36]
Chr10:10q23.1-23.31		 pathogenic
NM_001031709.2(RNLS):c.700+17431A>C single nucleotide variant Lung cancer [RCV000109448] Chr10:88345121 [GRCh38]
Chr10:90104878 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.2(RNLS):c.527-23387C>T single nucleotide variant Lung cancer [RCV000109450] Chr10:88386112 [GRCh38]
Chr10:90145869 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.2(RNLS):c.527-75261G>A single nucleotide variant Lung cancer [RCV000109451] Chr10:88437986 [GRCh38]
Chr10:90197743 [GRCh37]
Chr10:10q23.31		 uncertain significance
GRCh38/hg38 10q23.31(chr10:88476440-88581724)x1 copy number loss See cases [RCV000135884] Chr10:88476440..88581724 [GRCh38]
Chr10:90236197..90341481 [GRCh37]
Chr10:90226177..90331461 [NCBI36]
Chr10:10q23.31		 benign
GRCh37/hg19 10q23.1-23.31(chr10:86766571-92609514)x1 copy number loss See cases [RCV000447104] Chr10:86766571..92609514 [GRCh37]
Chr10:10q23.1-23.31		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10q23.2-23.31(chr10:88615516-92032083)x3 copy number gain See cases [RCV000448638] Chr10:88615516..92032083 [GRCh37]
Chr10:10q23.2-23.31		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh38/hg38 10q23.31(chr10:87830830-88617225)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626428] Chr10:87830830..88617225 [GRCh38]
Chr10:89590587..90376982 [GRCh37]
Chr10:10q23.31		 drug response
GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1 copy number loss not provided [RCV000683284] Chr10:83379241..93219169 [GRCh37]
Chr10:10q23.1-23.32		 pathogenic
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001031709.3(RNLS):c.621T>A (p.Asp207Glu) single nucleotide variant not provided [RCV000893244] Chr10:88362631 [GRCh38]
Chr10:90122388 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.541C>A (p.Gln181Lys) single nucleotide variant not provided [RCV000893245] Chr10:88362711 [GRCh38]
Chr10:90122468 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.527-30G>A single nucleotide variant not provided [RCV001666829] Chr10:88362755 [GRCh38]
Chr10:90122512 [GRCh37]
Chr10:10q23.31		 benign
NM_018363.4(RNLS):c.877-110G>A single nucleotide variant not provided [RCV001665862] Chr10:88275142 [GRCh38]
Chr10:90034899 [GRCh37]
Chr10:10q23.31		 benign
NM_018363.4(RNLS):c.877-194del deletion not provided [RCV001690958] Chr10:88275226 [GRCh38]
Chr10:90034983 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.939A>T (p.Ala313=) single nucleotide variant not provided [RCV000826977] Chr10:88285444 [GRCh38]
Chr10:90045201 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.367+251TA[12] microsatellite not provided [RCV001657315] Chr10:88581294..88581295 [GRCh38]
Chr10:90341051..90341052 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.876+218T>C single nucleotide variant not provided [RCV001671765] Chr10:88314248 [GRCh38]
Chr10:90074005 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.877-220T>A single nucleotide variant not provided [RCV001680161] Chr10:88285726 [GRCh38]
Chr10:90045483 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.526+49T>C single nucleotide variant not provided [RCV001670418] Chr10:88572854 [GRCh38]
Chr10:90332611 [GRCh37]
Chr10:10q23.31		 benign
NM_018363.4(RNLS):c.*270G>A single nucleotide variant not provided [RCV001614264] Chr10:88274691 [GRCh38]
Chr10:90034448 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.367+275C>T single nucleotide variant not provided [RCV001694528] Chr10:88581292 [GRCh38]
Chr10:90341049 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.118+222_118+233del microsatellite not provided [RCV001766121] Chr10:88582840..88582851 [GRCh38]
Chr10:90342597..90342608 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.332T>C (p.Ile111Thr) single nucleotide variant not provided [RCV000953282] Chr10:88581602 [GRCh38]
Chr10:90341359 [GRCh37]
Chr10:10q23.31		 benign|likely benign
NC_000010.11:g.(?_87863161)_(88948936_?)del deletion PTEN hamartoma tumor syndrome [RCV001032107] Chr10:89622918..90708693 [GRCh37]
Chr10:10q23.31		 pathogenic
NM_001031709.3(RNLS):c.367+271_367+276del deletion not provided [RCV001608372] Chr10:88581291..88581296 [GRCh38]
Chr10:90341048..90341053 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.111G>C (p.Glu37Asp) single nucleotide variant Stage 5 chronic kidney disease [RCV001789711]|not provided [RCV001655053] Chr10:88583080 [GRCh38]
Chr10:90342837 [GRCh37]
Chr10:10q23.31		 association|benign
NM_018363.4(RNLS):c.*230T>C single nucleotide variant not provided [RCV001620107] Chr10:88274731 [GRCh38]
Chr10:90034488 [GRCh37]
Chr10:10q23.31		 benign
NM_018363.4(RNLS):c.877-94G>A single nucleotide variant not provided [RCV001676865] Chr10:88275126 [GRCh38]
Chr10:90034883 [GRCh37]
Chr10:10q23.31		 benign
NR_172141.1(LIPJ):n.735A>G single nucleotide variant not provided [RCV001637812] Chr10:88583641 [GRCh38]
Chr10:90343398 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.368-227A>T single nucleotide variant not provided [RCV001687023] Chr10:88573288 [GRCh38]
Chr10:90333045 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.701-3C>T single nucleotide variant not provided [RCV001658617] Chr10:88314644 [GRCh38]
Chr10:90074401 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.224+115A>G single nucleotide variant not provided [RCV001708027] Chr10:88582087 [GRCh38]
Chr10:90341844 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.527-194A>G single nucleotide variant not provided [RCV001710327] Chr10:88362919 [GRCh38]
Chr10:90122676 [GRCh37]
Chr10:10q23.31		 benign
NC_000010.11:g.(?_87552082)_(88768928_?)del deletion PTEN hamartoma tumor syndrome [RCV001033358] Chr10:89311839..90528685 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1 copy number loss not provided [RCV001258457] Chr10:88685387..92144296 [GRCh37]
Chr10:10q23.2-23.31		 pathogenic
GRCh37/hg19 10q23.31(chr10:90122675-90771228)x3 copy number gain not provided [RCV001258458] Chr10:90122675..90771228 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.367+273C>T single nucleotide variant not provided [RCV001534733] Chr10:88581294 [GRCh38]
Chr10:90341051 [GRCh37]
Chr10:10q23.31		 benign
NM_018363.4(RNLS):c.*173T>A single nucleotide variant not provided [RCV001687090] Chr10:88274788 [GRCh38]
Chr10:90034545 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.876+237C>T single nucleotide variant not provided [RCV001643627] Chr10:88314229 [GRCh38]
Chr10:90073986 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.876+78T>C single nucleotide variant not provided [RCV001678833] Chr10:88314388 [GRCh38]
Chr10:90074145 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.876+83C>T single nucleotide variant not provided [RCV001678907] Chr10:88314383 [GRCh38]
Chr10:90074140 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.877-249C>T single nucleotide variant not provided [RCV001687405] Chr10:88285755 [GRCh38]
Chr10:90045512 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.119-222A>T single nucleotide variant not provided [RCV001774999] Chr10:88582529 [GRCh38]
Chr10:90342286 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.368-110A>C single nucleotide variant not provided [RCV001774837] Chr10:88573171 [GRCh38]
Chr10:90332928 [GRCh37]
Chr10:10q23.31		 likely benign
NM_018363.4(RNLS):c.*231G>A single nucleotide variant not provided [RCV001776551] Chr10:88274730 [GRCh38]
Chr10:90034487 [GRCh37]
Chr10:10q23.31		 likely benign
GRCh37/hg19 10q23.31(chr10:89698323-90252519) copy number loss Specific learning disability [RCV002280644] Chr10:89698323..90252519 [GRCh37]
Chr10:10q23.31		 pathogenic
NR_172141.1(LIPJ):n.455G>A single nucleotide variant not provided [RCV001753081] Chr10:88583361 [GRCh38]
Chr10:90343118 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.119-176T>C single nucleotide variant not provided [RCV001753146] Chr10:88582483 [GRCh38]
Chr10:90342240 [GRCh37]
Chr10:10q23.31		 likely benign
NR_172141.1(LIPJ):n.589T>A single nucleotide variant not provided [RCV001757392] Chr10:88583495 [GRCh38]
Chr10:90343252 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.920A>T (p.His307Leu) single nucleotide variant not provided [RCV002043043] Chr10:88285463 [GRCh38]
Chr10:90045220 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.658T>C (p.Cys220Arg) single nucleotide variant not provided [RCV002039184] Chr10:88362594 [GRCh38]
Chr10:90122351 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.1004T>C (p.Leu335Pro) single nucleotide variant Inborn genetic diseases [RCV002592672]|not provided [RCV001981218] Chr10:88285379 [GRCh38]
Chr10:90045136 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.677T>C (p.Ile226Thr) single nucleotide variant not provided [RCV001906912] Chr10:88362575 [GRCh38]
Chr10:90122332 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.159G>A (p.Gln53=) single nucleotide variant not provided [RCV002166330] Chr10:88582267 [GRCh38]
Chr10:90342024 [GRCh37]
Chr10:10q23.31		 benign
NM_001031709.3(RNLS):c.701-1445T>C single nucleotide variant Family history [RCV002052287] Chr10:88316086 [GRCh38]
Chr10:90075843 [GRCh37]
Chr10:10q23.31		 association
NM_001031709.3(RNLS):c.701-9A>G single nucleotide variant not provided [RCV002176241] Chr10:88314650 [GRCh38]
Chr10:90074407 [GRCh37]
Chr10:10q23.31		 benign
NC_000010.10:g.(?_89514444)_(90537999_?)del deletion PTEN hamartoma tumor syndrome [RCV003111000] Chr10:89514444..90537999 [GRCh37]
Chr10:10q23.31		 pathogenic
NC_000010.10:g.(?_90122289)_(90122502_?)del deletion not provided [RCV003122328] Chr10:90122289..90122502 [GRCh37]
Chr10:10q23.31		 uncertain significance
GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1 copy number loss See cases [RCV002287561] Chr10:83533660..91913077 [GRCh37]
Chr10:10q23.1-23.31		 pathogenic
GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1 copy number loss not provided [RCV002472429] Chr10:82595472..93542416 [GRCh37]
Chr10:10q23.1-23.32		 pathogenic
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 copy number loss not provided [RCV002472645] Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33		 pathogenic
NM_001031709.3(RNLS):c.691C>T (p.Arg231Cys) single nucleotide variant Inborn genetic diseases [RCV002901850] Chr10:88362561 [GRCh38]
Chr10:90122318 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.578G>A (p.Arg193Gln) single nucleotide variant Inborn genetic diseases [RCV002773339] Chr10:88362674 [GRCh38]
Chr10:90122431 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.404T>A (p.Ile135Asn) single nucleotide variant Inborn genetic diseases [RCV002783228] Chr10:88573025 [GRCh38]
Chr10:90332782 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.669C>T (p.Phe223_Val224=) single nucleotide variant not provided [RCV002658497] Chr10:88362583 [GRCh38]
Chr10:90122340 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.805C>T (p.Gln269Ter) single nucleotide variant not provided [RCV002958566] Chr10:88314537 [GRCh38]
Chr10:90074294 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.215A>T (p.Lys72Ile) single nucleotide variant Inborn genetic diseases [RCV002763535] Chr10:88582211 [GRCh38]
Chr10:90341968 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.1013T>C (p.Leu338Ser) single nucleotide variant Inborn genetic diseases [RCV002984199] Chr10:88285370 [GRCh38]
Chr10:90045127 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.695A>G (p.Asn232Ser) single nucleotide variant not provided [RCV002895505] Chr10:88362557 [GRCh38]
Chr10:90122314 [GRCh37]
Chr10:10q23.31		 likely benign
NM_001031709.3(RNLS):c.649A>G (p.Ser217Gly) single nucleotide variant not provided [RCV002922931] Chr10:88362603 [GRCh38]
Chr10:90122360 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.223C>T (p.Arg75Cys) single nucleotide variant Inborn genetic diseases [RCV002920048] Chr10:88582203 [GRCh38]
Chr10:90341960 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.746C>T (p.Pro249Leu) single nucleotide variant not provided [RCV002895902] Chr10:88314596 [GRCh38]
Chr10:90074353 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.209C>T (p.Ala70Val) single nucleotide variant Inborn genetic diseases [RCV002936122] Chr10:88582217 [GRCh38]
Chr10:90341974 [GRCh37]
Chr10:10q23.31		 uncertain significance
NM_001031709.3(RNLS):c.253G>A (p.Val85Ile) single nucleotide variant not provided [RCV002610461] Chr10:88581681 [GRCh38]
Chr10:90341438 [GRCh37]
Chr10:10q23.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:748
Count of miRNA genes:537
Interacting mature miRNAs:572
Transcripts:ENST00000331772, ENST00000371947, ENST00000437752, ENST00000466945, ENST00000481793
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-77962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,160,864 - 90,161,168UniSTSGRCh37
Build 361090,150,844 - 90,151,148RGDNCBI36
Celera1083,907,682 - 83,907,986RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,795,549 - 83,795,853UniSTS
TNG Radiation Hybrid Map1042226.0UniSTS
RH120267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,261,275 - 90,261,465UniSTSGRCh37
Build 361090,251,255 - 90,251,445RGDNCBI36
Celera1084,008,094 - 84,008,284RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,895,829 - 83,896,019UniSTS
RH122278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,332,573 - 90,332,843UniSTSGRCh37
Build 361090,322,553 - 90,322,823RGDNCBI36
Celera1084,079,403 - 84,079,673RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,967,153 - 83,967,423UniSTS
SHGC-143261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,047,236 - 90,047,517UniSTSGRCh37
Build 361090,037,216 - 90,037,497RGDNCBI36
Celera1083,794,108 - 83,794,389RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,681,979 - 83,682,260UniSTS
TNG Radiation Hybrid Map1042284.0UniSTS
RH68820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,302,567 - 90,302,746UniSTSGRCh37
Build 361090,292,547 - 90,292,726RGDNCBI36
Celera1084,049,386 - 84,049,565RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,937,131 - 83,937,307UniSTS
GeneMap99-GB4 RH Map10428.86UniSTS
NCBI RH Map101035.6UniSTS
D10S2339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,088,593 - 90,088,715UniSTSGRCh37
Build 361090,078,573 - 90,078,695RGDNCBI36
Celera1083,835,465 - 83,835,587RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,723,336 - 83,723,458UniSTS
Stanford-G3 RH Map103925.0UniSTS
AFM280WE1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,320,671 - 90,320,757UniSTSGRCh37
Build 361090,310,651 - 90,310,737RGDNCBI36
Celera1084,067,506 - 84,067,590RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,955,259 - 83,955,343UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH65491  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371090,044,769 - 90,044,922UniSTSGRCh37
Build 361090,034,749 - 90,034,902RGDNCBI36
Celera1083,791,640 - 83,791,793RGD
Cytogenetic Map10q23.31UniSTS
HuRef1083,679,511 - 83,679,664UniSTS
GeneMap99-GB4 RH Map10429.01UniSTS
NCBI RH Map101035.6UniSTS


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 pharyngeal arch
High
Medium 23 1 87 15 16 15 26 7 133 109 60 1 6 6
Low 2341 2459 1627 598 1400 440 4303 2098 3570 275 1315 1497 170 1 1198 2782 3 2
Below cutoff 28 531 5 6 498 5 13 71 141 4 17 24 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001031709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA854849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX878137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM978857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP332262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN232199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331772   ⟹   ENSP00000332530
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1088,284,102 - 88,583,318 (-)Ensembl
RefSeq Acc Id: ENST00000371947   ⟹   ENSP00000361015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1088,273,864 - 88,584,530 (-)Ensembl
RefSeq Acc Id: ENST00000437752   ⟹   ENSP00000387577
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1088,572,904 - 88,583,190 (-)Ensembl
RefSeq Acc Id: ENST00000466945
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1088,314,513 - 88,583,332 (-)Ensembl
RefSeq Acc Id: ENST00000481793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1088,362,552 - 88,583,330 (-)Ensembl
RefSeq Acc Id: NM_001031709   ⟹   NP_001026879
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,284,102 - 88,583,318 (-)NCBI
GRCh371090,033,621 - 90,343,611 (-)NCBI
Build 361090,034,696 - 90,332,950 (-)NCBI Archive
HuRef1083,668,375 - 83,977,653 (-)ENTREZGENE
CHM1_11090,325,988 - 90,625,158 (-)NCBI
T2T-CHM13v2.01089,168,202 - 89,467,392 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018363   ⟹   NP_060833
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,273,862 - 88,583,318 (-)NCBI
GRCh371090,033,621 - 90,343,611 (-)NCBI
Build 361090,023,601 - 90,332,988 (-)NCBI Archive
HuRef1083,668,375 - 83,977,653 (-)ENTREZGENE
CHM1_11090,315,752 - 90,625,158 (-)NCBI
T2T-CHM13v2.01089,157,945 - 89,467,392 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269947   ⟹   XP_005270004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,284,102 - 88,583,318 (-)NCBI
GRCh371090,033,621 - 90,343,611 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269948   ⟹   XP_005270005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,284,102 - 88,583,318 (-)NCBI
GRCh371090,033,621 - 90,343,611 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269949   ⟹   XP_005270006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,341,509 - 88,583,318 (-)NCBI
GRCh371090,033,621 - 90,343,611 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539924   ⟹   XP_011538226
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,171,523 - 88,583,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011539927   ⟹   XP_011538229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,290,564 - 88,583,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016380   ⟹   XP_016871869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,242,385 - 88,583,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016381   ⟹   XP_016871870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,313,084 - 88,583,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016382   ⟹   XP_016871871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,171,523 - 88,583,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016384   ⟹   XP_016871873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,284,102 - 88,583,318 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017016385   ⟹   XP_016871874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,284,102 - 88,491,401 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047425435   ⟹   XP_047281391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,290,564 - 88,583,318 (-)NCBI
RefSeq Acc Id: XM_047425436   ⟹   XP_047281392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,290,564 - 88,583,318 (-)NCBI
RefSeq Acc Id: XR_001747122
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,171,523 - 88,583,318 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060833   ⟸   NM_018363
- Peptide Label: isoform 2 precursor
- UniProtKB: Q5VYX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001026879   ⟸   NM_001031709
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9NUP8 (UniProtKB/Swiss-Prot),   Q5VYX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005270005   ⟸   XM_005269948
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005270004   ⟸   XM_005269947
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005270006   ⟸   XM_005269949
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011538226   ⟸   XM_011539924
- Peptide Label: isoform X1
- UniProtKB: Q5VYX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538229   ⟸   XM_011539927
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016871871   ⟸   XM_017016382
- Peptide Label: isoform X8
- UniProtKB: B4DJW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871869   ⟸   XM_017016380
- Peptide Label: isoform X1
- UniProtKB: Q5VYX0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871873   ⟸   XM_017016384
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016871874   ⟸   XM_017016385
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_016871870   ⟸   XM_017016381
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000387577   ⟸   ENST00000437752
RefSeq Acc Id: ENSP00000332530   ⟸   ENST00000331772
RefSeq Acc Id: ENSP00000361015   ⟸   ENST00000371947
RefSeq Acc Id: XP_047281392   ⟸   XM_047425436
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047281391   ⟸   XM_047425435
- Peptide Label: isoform X2
Protein Domains
Amine oxidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VYX0-F1-model_v2 AlphaFold Q5VYX0 1-342 view protein structure

Promoters
RGD ID:7218067
Promoter ID:EPDNEW_H14779
Type:initiation region
Name:RNLS_2
Description:renalase, FAD dependent amine oxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14783  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381088,583,224 - 88,583,284EPDNEW
RGD ID:6788051
Promoter ID:HG_KWN:10460
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:NM_001031709,   OTTHUMT00000049249,   OTTHUMT00000049251,   OTTHUMT00000049252
Position:
Human AssemblyChrPosition (strand)Source
Build 361090,332,639 - 90,333,139 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25641 AgrOrtholog
COSMIC RNLS COSMIC
Ensembl Genes ENSG00000184719 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000332530 ENTREZGENE
  ENSP00000332530.4 UniProtKB/Swiss-Prot
  ENSP00000361015 ENTREZGENE
  ENSP00000361015.3 UniProtKB/Swiss-Prot
  ENSP00000387577.2 UniProtKB/TrEMBL
Ensembl Transcript ENST00000331772 ENTREZGENE
  ENST00000331772.9 UniProtKB/Swiss-Prot
  ENST00000371947 ENTREZGENE
  ENST00000371947.7 UniProtKB/Swiss-Prot
  ENST00000437752.2 UniProtKB/TrEMBL
Gene3D-CATH 3.50.50.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.660.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000184719 GTEx
HGNC ID HGNC:25641 ENTREZGENE
Human Proteome Map RNLS Human Proteome Map
InterPro Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD/NAD-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNLS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55328 UniProtKB/Swiss-Prot
NCBI Gene 55328 ENTREZGENE
OMIM 609360 OMIM
PANTHER PTHR23357 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RENALASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Amino_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD_binding_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165549084 PharmGKB
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJW3 ENTREZGENE, UniProtKB/TrEMBL
  F6XA08_HUMAN UniProtKB/TrEMBL
  Q5VYX0 ENTREZGENE
  Q9NUP8 ENTREZGENE
  RNLS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9BS33 UniProtKB/Swiss-Prot
  Q9NUP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 RNLS  renalase, FAD dependent amine oxidase    renalase, FAD-dependent amine oxidase  Symbol and/or name change 5135510 APPROVED
2011-08-17 RNLS  renalase, FAD-dependent amine oxidase  RNLS  renalase, FAD-dependent amine oxidase  Symbol and/or name change 5135510 APPROVED