FURIN (furin, paired basic amino acid cleaving enzyme) - Rat Genome Database

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Gene: FURIN (furin, paired basic amino acid cleaving enzyme) Homo sapiens
Analyze
Symbol: FURIN
Name: furin, paired basic amino acid cleaving enzyme
RGD ID: 1323167
HGNC Page HGNC:8568
Description: Enables several functions, including glycosaminoglycan binding activity; nerve growth factor binding activity; and serine-type endopeptidase activity. Involved in several processes, including negative regulation of transforming growth factor beta1 production; protein processing; and regulation of protein metabolic process. Acts upstream of or within protein processing. Located in several cellular components, including Golgi apparatus; membrane raft; and trans-Golgi network transport vesicle. Biomarker of arteriosclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dibasic processing enzyme; dibasic-processing enzyme; FES upstream region; FUR; furin (paired basic amino acid cleaving enzyme); furin, membrane associated receptor protein; FURIN/ADAMTS1 fusion; PACE; paired basic amino acid residue-cleaving enzyme; PCSK3; proprotein convertase subtilisin/kexin 3; proprotein convertase subtilisin/kexin type 3; SPC1; subtilisin-like proprotein convertase 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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,868,588 - 90,883,457 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,868,588 - 90,883,564 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,411,818 - 91,426,687 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,212,889 - 89,227,691 (+)NCBINCBI36Build 36hg18NCBI36
Build 341589,212,888 - 89,227,691NCBI
Celera1567,820,515 - 67,835,658 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,523,022 - 67,538,192 (+)NCBIHuRef
CHM1_11591,253,454 - 91,268,261 (+)NCBICHM1_1
T2T-CHM13v2.01588,627,830 - 88,643,054 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
apomorphine  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
batimastat  (EXP)
benzo[a]pyrene  (EXP)
beta-D-glucosamine  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGS 15943  (EXP)
chlorpyrifos  (ISO)
chromium atom  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper(II) chloride  (EXP)
cordycepin  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diminazene diaceturate  (EXP)
ethanol  (ISO)
fenthion  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
kenpaullone  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methidathion  (ISO)
methimazole  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodimethylamine  (EXP)
nickel dichloride  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
PhIP  (ISO)
potassium dichromate  (EXP)
rac-lactic acid  (EXP)
Rutecarpine  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium chloride  (ISO)
sodium dichromate  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Expression and localization of MT1-MMP and furin in the glomerular wall of short- and long-term diabetic rats. Boucher E, etal., Kidney Int. 2006 May;69(9):1570-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Gene-gene interactions among genetic variants from obesity candidate genes for nonobese and obese populations in type 2 diabetes. Lin E, etal., Genet Test Mol Biomarkers. 2009 Aug;13(4):485-93.
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Immunohistochemical localization of subtilisin/kexin-like proprotein convertases in human atherosclerosis. Stawowy P, etal., Virchows Arch. 2005 Apr;446(4):351-9. Epub 2005 Mar 9.
Additional References at PubMed
PMID:1360148   PMID:1438214   PMID:1571548   PMID:1629222   PMID:1644824   PMID:1713771   PMID:1741956   PMID:2112085   PMID:2251280   PMID:2408021   PMID:2674906   PMID:3023061  
PMID:7508380   PMID:7639757   PMID:7690548   PMID:7721880   PMID:7737999   PMID:7774724   PMID:7781597   PMID:7782070   PMID:8020465   PMID:8163529   PMID:8174106   PMID:8189547  
PMID:8262946   PMID:8546712   PMID:8615794   PMID:8670066   PMID:8804434   PMID:8846780   PMID:8940009   PMID:8995623   PMID:9094426   PMID:9130696   PMID:9166946   PMID:9242664  
PMID:9325052   PMID:9412467   PMID:9442015   PMID:9521771   PMID:9599222   PMID:9642263   PMID:9653148   PMID:9695949   PMID:9827567   PMID:9927419   PMID:10037747   PMID:10050053  
PMID:10225274   PMID:10373500   PMID:10409610   PMID:10452538   PMID:10526337   PMID:10567353   PMID:10593987   PMID:10887202   PMID:10888676   PMID:10900462   PMID:11071887   PMID:11237874  
PMID:11294867   PMID:11323410   PMID:11331585   PMID:11380615   PMID:11416205   PMID:11422372   PMID:11571266   PMID:11723118   PMID:11799113   PMID:11804956   PMID:11861638   PMID:11861826  
PMID:11921231   PMID:12006600   PMID:12058031   PMID:12058067   PMID:12071862   PMID:12220680   PMID:12354117   PMID:12411321   PMID:12460941   PMID:12477932   PMID:12482870   PMID:12547702  
PMID:12584323   PMID:12586364   PMID:12644459   PMID:12670890   PMID:12736257   PMID:12787574   PMID:14596804   PMID:14644155   PMID:14739277   PMID:14741044   PMID:14744861   PMID:15078902  
PMID:15082773   PMID:15135058   PMID:15240540   PMID:15247425   PMID:15342556   PMID:15371436   PMID:15489334   PMID:15564468   PMID:15584904   PMID:15606899   PMID:15611046   PMID:15637056  
PMID:15659365   PMID:15899807   PMID:15911696   PMID:16407210   PMID:16537537   PMID:16600625   PMID:16627761   PMID:16648485   PMID:16912035   PMID:16942750   PMID:17010968   PMID:17283058  
PMID:17301129   PMID:17360815   PMID:17477394   PMID:17525470   PMID:17641413   PMID:17905608   PMID:17905609   PMID:17909005   PMID:17938254   PMID:17948127   PMID:18037384   PMID:18064302  
PMID:18174282   PMID:18245819   PMID:18323532   PMID:18343183   PMID:18353966   PMID:18467449   PMID:18544638   PMID:18546152   PMID:18665212   PMID:18826955   PMID:19056739   PMID:19152512  
PMID:19193799   PMID:19199708   PMID:19322201   PMID:19477160   PMID:19492430   PMID:19541935   PMID:19913121   PMID:19946888   PMID:19998449   PMID:20055586   PMID:20062797   PMID:20101215  
PMID:20489134   PMID:20605791   PMID:20608975   PMID:20628086   PMID:20634490   PMID:20635860   PMID:20707915   PMID:20811902   PMID:20945401   PMID:21147780   PMID:21152186   PMID:21296375  
PMID:21406565   PMID:21503879   PMID:21550985   PMID:21763278   PMID:21805236   PMID:21805237   PMID:21873635   PMID:21880759   PMID:21889147   PMID:21909115   PMID:21988832   PMID:22038627  
PMID:22247010   PMID:22479394   PMID:22577343   PMID:22679642   PMID:22808247   PMID:22995191   PMID:23065687   PMID:23135270   PMID:23302673   PMID:23390091   PMID:23558288   PMID:23568742  
PMID:23598405   PMID:23653353   PMID:23661674   PMID:23686857   PMID:23744066   PMID:23775089   PMID:23829672   PMID:23835774   PMID:23840860   PMID:23861967   PMID:23936445   PMID:24162774  
PMID:24257604   PMID:24359561   PMID:24436242   PMID:24454770   PMID:24666235   PMID:25026302   PMID:25056061   PMID:25175744   PMID:25355923   PMID:25540379   PMID:25543063   PMID:25552509  
PMID:25813623   PMID:25933376   PMID:26065233   PMID:26137475   PMID:26283728   PMID:26283733   PMID:26346780   PMID:26488448   PMID:26496610   PMID:26569287   PMID:27384577   PMID:27548722  
PMID:27572312   PMID:27647913   PMID:27760099   PMID:27798871   PMID:28013223   PMID:28259973   PMID:28369813   PMID:28484053   PMID:28514442   PMID:29265076   PMID:29314830   PMID:29465367  
PMID:29499969   PMID:29680823   PMID:29976768   PMID:30021884   PMID:30021905   PMID:30135209   PMID:30333479   PMID:30706700   PMID:31091448   PMID:31253944   PMID:31505793   PMID:31741433  
PMID:31936902   PMID:32057769   PMID:32060422   PMID:32067586   PMID:32139876   PMID:32155444   PMID:32274964   PMID:32275259   PMID:32295904   PMID:32329629   PMID:32344311   PMID:32362314  
PMID:32376634   PMID:32512290   PMID:32512386   PMID:32660959   PMID:32691890   PMID:32703818   PMID:32730764   PMID:32814053   PMID:32840921   PMID:32867305   PMID:32873908   PMID:32920451  
PMID:33037310   PMID:33043282   PMID:33243086   PMID:33413387   PMID:33417835   PMID:33476708   PMID:33493182   PMID:33692215   PMID:33845483   PMID:33910372   PMID:33961781   PMID:34155192  
PMID:34289413   PMID:34356057   PMID:34373451   PMID:34432599   PMID:34510311   PMID:34579647   PMID:34699015   PMID:34709727   PMID:34726347   PMID:34784951   PMID:34807954   PMID:34856891  
PMID:34857952   PMID:34997216   PMID:35007661   PMID:35008003   PMID:35012335   PMID:35038715   PMID:35177076   PMID:35196783   PMID:35322530   PMID:35343766   PMID:35349767   PMID:35355278  
PMID:35399937   PMID:35563538   PMID:35696571   PMID:35748872   PMID:35844135   PMID:36071039   PMID:36134483   PMID:36374777   PMID:36581038   PMID:36799665   PMID:37093709   PMID:37105924  
PMID:37239341   PMID:37443715   PMID:37830621   PMID:38330730   PMID:38403160   PMID:38430890   PMID:38489333   PMID:38569033   PMID:38570613   PMID:39031635   PMID:39337476  


Genomics

Comparative Map Data
FURIN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,868,588 - 90,883,457 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,868,588 - 90,883,564 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,411,818 - 91,426,687 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,212,889 - 89,227,691 (+)NCBINCBI36Build 36hg18NCBI36
Build 341589,212,888 - 89,227,691NCBI
Celera1567,820,515 - 67,835,658 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,523,022 - 67,538,192 (+)NCBIHuRef
CHM1_11591,253,454 - 91,268,261 (+)NCBICHM1_1
T2T-CHM13v2.01588,627,830 - 88,643,054 (+)NCBIT2T-CHM13v2.0
Furin
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39780,038,942 - 80,055,188 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl780,038,333 - 80,055,184 (-)EnsemblGRCm39 Ensembl
GRCm38780,389,194 - 80,405,441 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl780,388,585 - 80,405,436 (-)EnsemblGRCm38mm10GRCm38
MGSCv37787,534,080 - 87,550,317 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36780,262,709 - 80,276,275 (-)NCBIMGSCv36mm8
Celera777,789,167 - 77,805,351 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.65NCBI
Furin
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81143,757,389 - 143,770,430 (-)NCBIGRCr8
mRatBN7.21134,348,142 - 134,361,182 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1134,348,144 - 134,364,314 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1142,257,013 - 142,269,107 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01149,426,407 - 149,438,502 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01142,344,416 - 142,356,506 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01142,185,092 - 142,198,167 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1142,185,094 - 142,197,182 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01143,137,721 - 143,153,628 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41136,209,969 - 136,222,057 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11136,288,374 - 136,300,463NCBI
Celera1126,407,744 - 126,419,832 (-)NCBICelera
RH 3.4 Map11074.0RGD
Cytogenetic Map1q31NCBI
Furin
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541614,936,546 - 14,949,252 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541614,915,031 - 14,947,634 (+)NCBIChiLan1.0ChiLan1.0
FURIN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21680,423,872 - 80,436,846 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11584,121,785 - 84,134,845 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01569,560,774 - 69,576,007 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11588,759,729 - 88,774,023 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1588,763,269 - 88,774,023 (+)Ensemblpanpan1.1panPan2
FURIN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,357,491 - 53,368,285 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl353,358,045 - 53,365,423 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,995,115 - 56,006,746 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0353,773,528 - 53,785,153 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl353,773,530 - 53,785,145 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1353,292,643 - 53,304,269 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0353,503,862 - 53,515,505 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0353,844,352 - 53,855,974 (-)NCBIUU_Cfam_GSD_1.0
Furin
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,182,463 - 130,198,421 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648316,136,099 - 16,144,635 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648316,136,099 - 16,147,945 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FURIN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl753,460,017 - 53,472,787 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1753,455,634 - 53,472,791 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2758,486,815 - 58,503,979 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FURIN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1298,980,367 - 8,992,257 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl298,979,720 - 8,988,235 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605937,732,423 - 37,745,148 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Furin
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476817,371,628 - 17,387,881 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476817,372,754 - 17,387,732 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FURIN
54 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
NM_002569.4(FURIN):c.1489C>T (p.Arg497Cys) single nucleotide variant not specified [RCV004141612] Chr15:90880206 [GRCh38]
Chr15:91423436 [GRCh37]
Chr15:89224440 [NCBI36]
Chr15:15q26.1		 uncertain significance|not provided
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 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 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 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 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 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 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 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 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3		 likely pathogenic
NM_002569.4(FURIN):c.2260C>T (p.Arg754Cys) single nucleotide variant not specified [RCV004290811] Chr15:90881753 [GRCh38]
Chr15:91424983 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1342C>T (p.Arg448Trp) single nucleotide variant not specified [RCV004298345] Chr15:90879950 [GRCh38]
Chr15:91423180 [GRCh37]
Chr15:15q26.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:91263414-91502563)x3 copy number gain not provided [RCV000683719] Chr15:91263414..91502563 [GRCh37]
Chr15:15q26.1		 uncertain significance
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 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:91269147-91491760)x3 copy number gain not provided [RCV000683720] Chr15:91269147..91491760 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:91414439-91436965)x1 copy number loss not provided [RCV000751391] Chr15:91414439..91436965 [GRCh37]
Chr15:15q26.1		 benign
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 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:91347599-91491931)x1 copy number loss not provided [RCV001006722] Chr15:91347599..91491931 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1 copy number loss not provided [RCV000847986] Chr15:91229877..93677014 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1 copy number loss not provided [RCV000849368] Chr15:91276782..91550953 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2075C>T (p.Pro692Leu) single nucleotide variant not specified [RCV004302982] Chr15:90881568 [GRCh38]
Chr15:91424798 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1357G>A (p.Asp453Asn) single nucleotide variant not specified [RCV004289499] Chr15:90879965 [GRCh38]
Chr15:91423195 [GRCh37]
Chr15:15q26.1		 uncertain significance
NC_000015.10:g.(?_90782812)_(90968837_?)dup duplication Bloom syndrome [RCV001033731] Chr15:91326042..91512067 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.-159-2262C>A single nucleotide variant not provided [RCV001667891] Chr15:90873320 [GRCh38]
Chr15:90873320..90873321 [GRCh38]
Chr15:91416550 [GRCh37]
Chr15:91416550..91416551 [GRCh37]
Chr15:15q26.1		 benign
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NC_000015.9:g.(?_91290623)_(91512067_?)dup duplication Bloom syndrome [RCV001327573] Chr15:91290623..91512067 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 copy number loss not provided [RCV001795547] Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2		 pathogenic
NC_000015.9:g.(?_91290623)_(91512067_?)del deletion Bloom syndrome [RCV001949533] Chr15:91290623..91512067 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 copy number loss not provided [RCV001827973] Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_89379429)_(91565479_?)dup duplication D-2-hydroxyglutaric aciduria 2 [RCV003111027]|not provided [RCV003111026] Chr15:89379429..91565479 [GRCh37]
Chr15:15q26.1		 uncertain significance|no classifications from unflagged records
NM_002569.4(FURIN):c.242G>A (p.Arg81His) single nucleotide variant not specified [RCV004332866] Chr15:90876319 [GRCh38]
Chr15:91419549 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1535G>A (p.Arg512His) single nucleotide variant not specified [RCV004106686] Chr15:90880252 [GRCh38]
Chr15:91423482 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_002569.4(FURIN):c.1220A>G (p.Asn407Ser) single nucleotide variant not specified [RCV004216930] Chr15:90879736 [GRCh38]
Chr15:91422966 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.932G>T (p.Ser311Ile) single nucleotide variant not specified [RCV004119770] Chr15:90878855 [GRCh38]
Chr15:91422085 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2078G>A (p.Arg693Gln) single nucleotide variant not specified [RCV004217852] Chr15:90881571 [GRCh38]
Chr15:91424801 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2315C>T (p.Pro772Leu) single nucleotide variant not specified [RCV004201417] Chr15:90881808 [GRCh38]
Chr15:91425038 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.505C>A (p.Pro169Thr) single nucleotide variant not specified [RCV004222865] Chr15:90877138 [GRCh38]
Chr15:91420368 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1234G>T (p.Ala412Ser) single nucleotide variant not specified [RCV004099750] Chr15:90879750 [GRCh38]
Chr15:91422980 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1192G>T (p.Val398Leu) single nucleotide variant not specified [RCV004132225] Chr15:90879708 [GRCh38]
Chr15:91422938 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.416C>T (p.Ala139Val) single nucleotide variant not specified [RCV004183732] Chr15:90876939 [GRCh38]
Chr15:91420169 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1606A>T (p.Thr536Ser) single nucleotide variant not specified [RCV004170656] Chr15:90880740 [GRCh38]
Chr15:91423970 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1666G>A (p.Glu556Lys) single nucleotide variant not specified [RCV004185571] Chr15:90880800 [GRCh38]
Chr15:91424030 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1 copy number loss not provided [RCV002508998] Chr15:91422650..91497515 [GRCh37]
Chr15:15q26.1		 not provided
NM_002569.4(FURIN):c.148C>T (p.Arg50Trp) single nucleotide variant not specified [RCV004234752] Chr15:90875888 [GRCh38]
Chr15:91419118 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1602G>A (p.Met534Ile) single nucleotide variant not specified [RCV004179346] Chr15:90880736 [GRCh38]
Chr15:91423966 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1654G>C (p.Glu552Gln) single nucleotide variant not specified [RCV004235427] Chr15:90880788 [GRCh38]
Chr15:91424018 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2377G>A (p.Ala793Thr) single nucleotide variant not specified [RCV004086554] Chr15:90881870 [GRCh38]
Chr15:91425100 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.952A>G (p.Ser318Gly) single nucleotide variant not specified [RCV004217406] Chr15:90878875 [GRCh38]
Chr15:91422105 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.433C>T (p.His145Tyr) single nucleotide variant not specified [RCV004232895] Chr15:90876956 [GRCh38]
Chr15:91420186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.350A>C (p.Lys117Thr) single nucleotide variant not specified [RCV004096292] Chr15:90876535 [GRCh38]
Chr15:91419765 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1519A>T (p.Ser507Cys) single nucleotide variant not specified [RCV004314073] Chr15:90880236 [GRCh38]
Chr15:91423466 [GRCh37]
Chr15:15q26.1		 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_002569.4(FURIN):c.2261G>A (p.Arg754His) single nucleotide variant not specified [RCV004269887] Chr15:90881754 [GRCh38]
Chr15:91424984 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.407C>T (p.Ala136Val) single nucleotide variant not specified [RCV004256229] Chr15:90876930 [GRCh38]
Chr15:91420160 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.218C>T (p.Thr73Met) single nucleotide variant not specified [RCV004331366] Chr15:90876295 [GRCh38]
Chr15:91419525 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.919G>A (p.Gly307Ser) single nucleotide variant not specified [RCV004267857] Chr15:90878842 [GRCh38]
Chr15:91422072 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2342G>A (p.Arg781Gln) single nucleotide variant not specified [RCV004257296] Chr15:90881835 [GRCh38]
Chr15:91425065 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
NM_002569.4(FURIN):c.1007C>T (p.Thr336Ile) single nucleotide variant not specified [RCV004251933] Chr15:90878930 [GRCh38]
Chr15:91422160 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.619A>C (p.Asn207His) single nucleotide variant not specified [RCV004328712] Chr15:90877567 [GRCh38]
Chr15:91420797 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_002569.4(FURIN):c.1207C>T (p.Pro403Ser) single nucleotide variant not specified [RCV004356012] Chr15:90879723 [GRCh38]
Chr15:91422953 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2016G>A (p.Glu672=) single nucleotide variant not provided [RCV003395038] Chr15:90881509 [GRCh38]
Chr15:91424739 [GRCh37]
Chr15:15q26.1		 likely benign
NM_002569.4(FURIN):c.1874C>T (p.Thr625Met) single nucleotide variant not specified [RCV004353577] Chr15:90881367 [GRCh38]
Chr15:91424597 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1417G>A (p.Ala473Thr) single nucleotide variant not specified [RCV004357157] Chr15:90880134 [GRCh38]
Chr15:91423364 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1534C>A (p.Arg512Ser) single nucleotide variant not specified [RCV004347392] Chr15:90880251 [GRCh38]
Chr15:91423481 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.827G>A (p.Arg276His) single nucleotide variant not specified [RCV004349733] Chr15:90878291 [GRCh38]
Chr15:91421521 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.241C>T (p.Arg81Cys) single nucleotide variant not provided [RCV003390557] Chr15:90876318 [GRCh38]
Chr15:91419548 [GRCh37]
Chr15:15q26.1		 likely benign
NM_002569.4(FURIN):c.435C>T (p.His145=) single nucleotide variant not provided [RCV003395036] Chr15:90876958 [GRCh38]
Chr15:91420188 [GRCh37]
Chr15:15q26.1		 likely benign
NM_002569.4(FURIN):c.1377-6G>T single nucleotide variant not provided [RCV003395037] Chr15:90880088 [GRCh38]
Chr15:91423318 [GRCh37]
Chr15:15q26.1		 likely benign
NM_002569.4(FURIN):c.1708C>T (p.Leu570Phe) single nucleotide variant not specified [RCV004387287] Chr15:90880956 [GRCh38]
Chr15:91424186 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2113C>T (p.Arg705Trp) single nucleotide variant not specified [RCV004387289] Chr15:90881606 [GRCh38]
Chr15:91424836 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1432C>T (p.Pro478Ser) single nucleotide variant not specified [RCV004387284] Chr15:90880149 [GRCh38]
Chr15:91423379 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1507A>G (p.Ile503Val) single nucleotide variant not specified [RCV004387285] Chr15:90880224 [GRCh38]
Chr15:91423454 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.2176G>C (p.Val726Leu) single nucleotide variant not specified [RCV004618824] Chr15:90881669 [GRCh38]
Chr15:91424899 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_002569.4(FURIN):c.1522C>G (p.Pro508Ala) single nucleotide variant not specified [RCV004618825] Chr15:90880239 [GRCh38]
Chr15:91423469 [GRCh37]
Chr15:15q26.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR24-2hsa-miR-24-3pOncomiRDBexternal_infoNANA21402698
MIR24-1hsa-miR-24-3pOncomiRDBexternal_infoNANA21402698

Predicted Target Of
Summary Value
Count of predictions:2469
Count of miRNA genes:936
Interacting mature miRNAs:1164
Transcripts:ENST00000268171, ENST00000558794, ENST00000559353, ENST00000560018, ENST00000560824
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407026242GWAS675218_Hpreeclampsia, hypertension, pregnancy-induced QTL GWAS675218 (human)2e-10preeclampsia, hypertension, pregnancy-induced159088031390880314Human
407103808GWAS752784_Hunipolar depression QTL GWAS752784 (human)2e-12unipolar depression159088333090883331Human
407222081GWAS871057_Hinsomnia QTL GWAS871057 (human)3e-17insomnia159088333090883331Human
406979654GWAS628630_Hschizophrenia QTL GWAS628630 (human)8e-14schizophrenia159088333090883331Human
406899782GWAS548758_Hopioid use disorder QTL GWAS548758 (human)8e-10conditioned place preference behavior trait (VT:0010723)159088333090883331Human
407073099GWAS722075_Hsystolic blood pressure QTL GWAS722075 (human)5e-09systolic blood pressuresystolic blood pressure (CMO:0000004)159087332090873321Human
406917194GWAS566170_Hrisk-taking behaviour QTL GWAS566170 (human)6e-09risk-taking behaviour159087506790875068Human
407319371GWAS968347_Hdiastolic blood pressure, unipolar depression QTL GWAS968347 (human)3e-08diastolic blood pressure, unipolar depressiondiastolic blood pressure (CMO:0000005)159087771090877711Human
407074381GWAS723357_Hsystolic blood pressure, alcohol consumption measurement QTL GWAS723357 (human)5e-22systolic blood pressure, alcohol consumption measurementethanol drink intake rate (CMO:0001407)159087774390877744Human
407387207GWAS1036183_Hserum alanine aminotransferase measurement QTL GWAS1036183 (human)2e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)159087931390879314Human
407289685GWAS938661_Hsystolic blood pressure QTL GWAS938661 (human)2e-54systolic blood pressuresystolic blood pressure (CMO:0000004)159087506790875068Human
406922578GWAS571554_Hrisky sexual behaviour measurement QTL GWAS571554 (human)6e-17risky sexual behaviour measurement159088333090883331Human
406947157GWAS596133_Hhypertension QTL GWAS596133 (human)7e-09hypertension159087931390879314Human
407055958GWAS704934_Hinsomnia measurement QTL GWAS704934 (human)7e-16insomnia measurement159088333090883331Human
407216208GWAS865184_Hbrain measurement QTL GWAS865184 (human)7e-75brain measurementbrain measurement (CMO:0000911)159088333090883331Human
407067988GWAS716964_Hparental longevity QTL GWAS716964 (human)0.0000007parental longevity159087332090873321Human
407068248GWAS717224_Hmean arterial pressure, alcohol drinking QTL GWAS717224 (human)1e-24mean arterial pressure, alcohol drinkingmean arterial blood pressure (CMO:0000009)159087774390877744Human
407251801GWAS900777_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS900777 (human)3e-11schizophrenia, intelligence, self reported educational attainment159088333090883331Human
407381355GWAS1030331_Hdiet measurement QTL GWAS1030331 (human)4e-10diet measurementfood intake measurement (CMO:0000772)159087516490875165Human
407076192GWAS725168_Hsystolic blood pressure, alcohol drinking QTL GWAS725168 (human)1e-40systolic blood pressure, alcohol drinkingsystolic blood pressure (CMO:0000004)159087771090877711Human
407294821GWAS943797_Hschizophrenia QTL GWAS943797 (human)6e-25schizophrenia159088333090883331Human
407316578GWAS965554_Hopioid use disorder QTL GWAS965554 (human)1e-09conditioned place preference behavior trait (VT:0010723)159087620290876204Human
406943592GWAS592568_Hlongevity, healthspan, parental longevity QTL GWAS592568 (human)2e-09longevity, healthspan, parental longevity159088031390880314Human
407337837GWAS986813_Hmean arterial pressure QTL GWAS986813 (human)5e-33mean arterial pressuremean arterial blood pressure (CMO:0000009)159087774390877744Human
407296618GWAS945594_Hcortical thickness QTL GWAS945594 (human)6e-19cortical thickness159088333090883331Human
406935663GWAS584639_Hsmoking initiation QTL GWAS584639 (human)1e-14smoking initiation159087332090873321Human
406918257GWAS567233_Hattention deficit hyperactivity disorder, bipolar disorder, autism spectrum disorder, schizophrenia, major depressive disorder QTL GWAS567233 (human)5e-09insomnia measurement159088333090883331Human
407316594GWAS965570_Hopioid use disorder QTL GWAS965570 (human)2e-08conditioned place preference behavior trait (VT:0010723)159087332090873321Human
407087998GWAS736974_Hcoronary artery disease QTL GWAS736974 (human)1e-26coronary artery disease159087332090873321Human
406943612GWAS592588_Hparental longevity QTL GWAS592588 (human)1e-10parental longevity159088031390880314Human
407239940GWAS888916_Hbrain measurement QTL GWAS888916 (human)7e-17brain measurementbrain measurement (CMO:0000911)159088333090883331Human
406976003GWAS624979_Hautism spectrum disorder, schizophrenia QTL GWAS624979 (human)2e-08autism spectrum disorder, schizophrenia159087506790875068Human
407398154GWAS1047130_HHMG CoA reductase inhibitor use measurement QTL GWAS1047130 (human)4e-09HMG CoA reductase inhibitor use measurement159087931390879314Human
407279363GWAS928339_Hbody height QTL GWAS928339 (human)9e-57body height (VT:0001253)body height (CMO:0000106)159088333090883331Human
406977799GWAS626775_Hbipolar disorder QTL GWAS626775 (human)5e-11bipolar disorder159088333090883331Human
407244814GWAS893790_Hmajor depressive disorder QTL GWAS893790 (human)8e-08major depressive disorder159088333090883331Human
406913549GWAS562525_Hbipolar disorder QTL GWAS562525 (human)4e-09alcohol use disorder measurement159088333090883331Human
407078934GWAS727910_Hmean arterial pressure QTL GWAS727910 (human)2e-10mean arterial pressuremean arterial blood pressure (CMO:0000009)159087332090873321Human
407181074GWAS830050_Hschizophrenia, breast carcinoma QTL GWAS830050 (human)2e-22schizophrenia, breast carcinoma159088333090883331Human
406969622GWAS618598_Hopioid use disorder QTL GWAS618598 (human)1e-11conditioned place preference behavior trait (VT:0010723)159088333090883331Human
407089690GWAS738666_Hfeeling emotionally hurt measurement QTL GWAS738666 (human)2e-09feeling emotionally hurt measurement159088333090883331Human
407073567GWAS722543_Hhypertension QTL GWAS722543 (human)3e-09hypertension159087332090873321Human
407261209GWAS910185_Hchildhood trauma measurement QTL GWAS910185 (human)1e-13childhood trauma measurement159088333090883331Human
407134503GWAS783479_Hneuroticism measurement, cognitive function measurement QTL GWAS783479 (human)1e-12neuroticism measurement, cognitive function measurement159088333090883331Human
406922537GWAS571513_HAntihypertensive use measurement QTL GWAS571513 (human)2e-49Antihypertensive use measurement159087506790875068Human
407073321GWAS722297_Hbalding measurement QTL GWAS722297 (human)5e-11balding measurementcoat/hair morphological measurement (CMO:0001807)159088031390880314Human
407169323GWAS818299_Happendicular lean mass QTL GWAS818299 (human)6e-13schizophrenia159088333090883331Human
407038004GWAS686980_Hmyeloid white cell count QTL GWAS686980 (human)1e-18myeloid white cell countwhite blood cell count (CMO:0000027)159086961990869629Human
407222077GWAS871053_Hinsomnia QTL GWAS871053 (human)9e-09insomnia159088134490881345Human
407222076GWAS871052_Hinsomnia QTL GWAS871052 (human)5e-14insomnia159087774390877744Human
407330361GWAS979337_Hneuroimaging measurement QTL GWAS979337 (human)2e-18neuroimaging measurement159088031390880314Human
407222074GWAS871050_Hinsomnia QTL GWAS871050 (human)3e-15insomnia159086961990869629Human
406899775GWAS548751_Hopioid use disorder QTL GWAS548751 (human)3e-10conditioned place preference behavior trait (VT:0010723)159088333090883331Human
407361734GWAS1010710_Hrisky sexual behaviour measurement QTL GWAS1010710 (human)3e-13risky sexual behaviour measurement159088333090883331Human
407079364GWAS728340_Hmean arterial pressure QTL GWAS728340 (human)0.0000002mean arterial pressuremean arterial blood pressure (CMO:0000009)159087332090873321Human
407368654GWAS1017630_Hmajor depressive disorder QTL GWAS1017630 (human)2e-08major depressive disorder159087931390879314Human
407368652GWAS1017628_Hbipolar disorder QTL GWAS1017628 (human)3e-09bipolar disorder159087931390879314Human
407169743GWAS818719_Hunipolar depression QTL GWAS818719 (human)3e-19unipolar depression159088333090883331Human
407089101GWAS738077_Hapolipoprotein A 1 measurement QTL GWAS738077 (human)1e-10apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)159087931390879314Human
407168212GWAS817188_Htissue plasminogen activator measurement, coronary artery disease QTL GWAS817188 (human)3e-19tissue plasminogen activator measurement, coronary artery disease159087506790875068Human
407263703GWAS912679_Hschizophrenia QTL GWAS912679 (human)3e-12schizophrenia159087332090873321Human
406979280GWAS628256_Hschizophrenia QTL GWAS628256 (human)5e-12risk-taking behaviour159088333090883331Human
407155927GWAS804903_Hattempted suicide QTL GWAS804903 (human)2e-09attempted suicide159087332090873321Human
407088853GWAS737829_Hcoronary artery disease QTL GWAS737829 (human)8e-27coronary artery disease159087332090873321Human
407175378GWAS824354_Hage at first sexual intercourse measurement QTL GWAS824354 (human)1e-16age at first sexual intercourse measurement159088333090883331Human
407066847GWAS715823_Hdiastolic blood pressure, alcohol drinking QTL GWAS715823 (human)6e-37diastolic blood pressure, alcohol drinkingdiastolic blood pressure (CMO:0000005)159087774390877744Human
407149784GWAS798760_Hneutrophil count QTL GWAS798760 (human)6e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)159087931390879314Human
407086046GWAS735022_Hsystolic blood pressure QTL GWAS735022 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)159087332090873321Human
407055326GWAS704302_Htrauma exposure measurement QTL GWAS704302 (human)2e-08trauma exposure measurement159088200290882003Human
406953453GWAS602429_Hcoronary artery disease QTL GWAS602429 (human)0.0000003coronary artery disease159087332090873321Human
407182312GWAS831288_Hschizophrenia, estrogen-receptor positive breast cancer QTL GWAS831288 (human)1e-22schizophrenia, estrogen-receptor positive breast cancer159088333090883331Human
407132916GWAS781892_Hschizophrenia QTL GWAS781892 (human)3e-12schizophrenia159088333090883331Human
407414781GWAS1063757_Hdiastolic blood pressure QTL GWAS1063757 (human)1e-86diastolic blood pressurediastolic blood pressure (CMO:0000005)159087516490875165Human
407391742GWAS1040718_Hfactor XI measurement, coronary artery disease QTL GWAS1040718 (human)3e-19factor XI measurement, coronary artery disease159087516490875165Human
407416575GWAS1065551_Hpulse pressure measurement QTL GWAS1065551 (human)2e-35pulse pressure measurementpulse pressure (CMO:0000292)159087516490875165Human
407062271GWAS711247_Hobsessive-compulsive disorder, attention deficit hyperactivity disorder, Tourette syndrome, unipolar depression, bipolar disorder, autism spectrum disorder, schizophrenia, anorexia nervosa QTL GWAS711247 (human)2e-11schizophrenia159088333090883331Human
407391989GWAS1040965_Hcoronary artery disease, factor VII measurement QTL GWAS1040965 (human)2e-19von Willebrand factor measurement, coronary artery disease159087516490875165Human
407198853GWAS847829_Hcoronary artery disease, plasminogen activator inhibitor 1 measurement QTL GWAS847829 (human)4e-19coronary artery disease, plasminogen activator inhibitor 1 measurementblood plasminogen activator inhibitor 1 level (CMO:0003034)159087506790875068Human
407359879GWAS1008855_Hinsomnia QTL GWAS1008855 (human)3e-15insomnia159088333090883331Human
407359878GWAS1008854_Hinsomnia QTL GWAS1008854 (human)5e-10insomnia159088134490881345Human
407246471GWAS895447_Hcortical thickness QTL GWAS895447 (human)1e-17cortical thickness159088333090883331Human
407359877GWAS1008853_Hinsomnia QTL GWAS1008853 (human)1e-08insomnia159087774390877744Human
407359876GWAS1008852_Hinsomnia QTL GWAS1008852 (human)4e-10insomnia159086961990869629Human
407249282GWAS898258_Hchildhood trauma measurement QTL GWAS898258 (human)4e-12childhood trauma measurement159088333090883331Human
407307151GWAS956127_Hschizophrenia QTL GWAS956127 (human)6e-11schizophrenia159087332090873321Human
407171212GWAS820188_Hfunctional brain measurement, language measurement QTL GWAS820188 (human)4e-13functional brain measurement, language measurementbrain physiological measurement (CMO:0001969)159088333090883331Human
407073416GWAS722392_Hpreeclampsia QTL GWAS722392 (human)9e-09preeclampsia159088031390880314Human
407067027GWAS716003_Hparental longevity QTL GWAS716003 (human)7e-10parental longevity159087332090873321Human
406970001GWAS618977_Hcannabis dependence QTL GWAS618977 (human)5e-08cannabis dependence159088333090883331Human
407044498GWAS693474_Hhandedness QTL GWAS693474 (human)6e-21handedness159088031390880314Human
407067281GWAS716257_Hparental longevity QTL GWAS716257 (human)0.0000001parental longevity159087332090873321Human
407289237GWAS938213_Hsystolic blood pressure QTL GWAS938213 (human)5e-58systolic blood pressuresystolic blood pressure (CMO:0000004)159087506790875068Human
407368084GWAS1017060_Hschizophrenia QTL GWAS1017060 (human)5e-11schizophrenia159087931390879314Human
406906260GWAS555236_Hsmoking initiation QTL GWAS555236 (human)3e-15smoking initiation159087332090873321Human
406919061GWAS568037_Hbipolar disorder QTL GWAS568037 (human)1e-10autism spectrum disorder, schizophrenia159088333090883331Human
406920340GWAS569316_Hrisk-taking behaviour QTL GWAS569316 (human)3e-09executive function measurement159088333090883331Human
407152531GWAS801507_Hschizophrenia QTL GWAS801507 (human)2e-15schizophrenia159088333090883331Human
407385490GWAS1034466_Hlarge artery stroke QTL GWAS1034466 (human)2e-09large artery stroke159087516490875165Human
407392919GWAS1041895_Hfibrinogen measurement, coronary artery disease QTL GWAS1041895 (human)1e-19fibrinogen measurement, coronary artery diseaseblood fibrinogen level (CMO:0000209)159087516490875165Human
407368359GWAS1017335_Hneutrophil count QTL GWAS1017335 (human)9e-09neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)159087931390879314Human
407363246GWAS1012222_Hrisky sexual behaviour measurement QTL GWAS1012222 (human)2e-13risky sexual behaviour measurement159088333090883331Human
407322795GWAS971771_Hinsomnia QTL GWAS971771 (human)3e-31insomnia159088333090883331Human
407322794GWAS971770_Hinsomnia QTL GWAS971770 (human)1e-16insomnia159088134490881345Human
407322793GWAS971769_Hinsomnia QTL GWAS971769 (human)2e-19insomnia159087774390877744Human
407322792GWAS971768_Hinsomnia QTL GWAS971768 (human)6e-24insomnia159086961990869629Human
407395768GWAS1044744_Hsystolic blood pressure QTL GWAS1044744 (human)3e-87systolic blood pressuresystolic blood pressure (CMO:0000004)159087516490875165Human
407173552GWAS822528_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS822528 (human)1e-23attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement159088333090883331Human
407138238GWAS787214_Hcannabis dependence QTL GWAS787214 (human)3e-08cannabis dependence159088333090883331Human

Markers in Region
G54068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,426,472 - 91,426,610UniSTSGRCh37
Build 361589,227,476 - 89,227,614RGDNCBI36
Celera1567,835,443 - 67,835,581RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,537,977 - 67,538,115UniSTS
RH1636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,426,895 - 91,427,009UniSTSGRCh37
Build 361589,227,899 - 89,228,013RGDNCBI36
Celera1567,835,866 - 67,835,980RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,538,400 - 67,538,514UniSTS
GeneMap99-GB4 RH Map15329.08UniSTS
NCBI RH Map15701.7UniSTS
G06349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,425,503 - 91,425,835UniSTSGRCh37
Build 361589,226,507 - 89,226,839RGDNCBI36
Celera1567,834,474 - 67,834,806RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,537,008 - 67,537,340UniSTS
FURIN_659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,425,983 - 91,426,678UniSTSGRCh37
Build 361589,226,987 - 89,227,682RGDNCBI36
Celera1567,834,954 - 67,835,649RGD
HuRef1567,537,488 - 67,538,183UniSTS
FURIN  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,420,803 - 91,421,444UniSTSGRCh37
GRCh371591,418,972 - 91,419,128UniSTSGRCh37
Celera1567,829,774 - 67,830,415UniSTS
Celera1567,827,943 - 67,828,099UniSTS
HuRef1567,530,477 - 67,530,633UniSTS
HuRef1567,532,308 - 67,532,949UniSTS
FURIN  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,420,803 - 91,421,444UniSTSGRCh37
GRCh371591,418,972 - 91,419,128UniSTSGRCh37
Celera1567,829,774 - 67,830,415UniSTS
Celera1567,827,943 - 67,828,099UniSTS
HuRef1567,530,477 - 67,530,633UniSTS
HuRef1567,532,308 - 67,532,949UniSTS


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
1204 2433 2788 2246 4944 1723 2349 5 624 1949 465 2268 7290 6460 52 3710 1 850 1737 1614 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001289823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A06939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI051906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL555508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM043834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP282138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP283962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M14589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S65442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S72615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000268171   ⟹   ENSP00000268171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,868,588 - 90,883,457 (+)Ensembl
Ensembl Acc Id: ENST00000558794   ⟹   ENSP00000453942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,878,194 - 90,880,756 (+)Ensembl
Ensembl Acc Id: ENST00000559353   ⟹   ENSP00000452730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,872,878 - 90,876,284 (+)Ensembl
Ensembl Acc Id: ENST00000560018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,879,584 - 90,880,096 (+)Ensembl
Ensembl Acc Id: ENST00000560824   ⟹   ENSP00000453212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,875,688 - 90,877,166 (+)Ensembl
Ensembl Acc Id: ENST00000610579   ⟹   ENSP00000484952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,871,539 - 90,883,458 (+)Ensembl
Ensembl Acc Id: ENST00000618099   ⟹   ENSP00000483552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,872,878 - 90,883,458 (+)Ensembl
Ensembl Acc Id: ENST00000640725   ⟹   ENSP00000491453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,879,720 - 90,880,145 (+)Ensembl
Ensembl Acc Id: ENST00000680053   ⟹   ENSP00000506143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,872,170 - 90,883,564 (+)Ensembl
Ensembl Acc Id: ENST00000680086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,881,415 - 90,883,457 (+)Ensembl
Ensembl Acc Id: ENST00000680687   ⟹   ENSP00000505177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,875,582 - 90,883,492 (+)Ensembl
Ensembl Acc Id: ENST00000681804   ⟹   ENSP00000505828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,875,582 - 90,883,458 (+)Ensembl
Ensembl Acc Id: ENST00000681865   ⟹   ENSP00000505303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,875,688 - 90,883,564 (+)Ensembl
RefSeq Acc Id: NM_001289823   ⟹   NP_001276752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,871,540 - 90,883,457 (+)NCBI
CHM1_11591,256,344 - 91,268,262 (+)NCBI
T2T-CHM13v2.01588,631,137 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001289824   ⟹   NP_001276753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,872,854 - 90,883,457 (+)NCBI
CHM1_11591,257,683 - 91,268,262 (+)NCBI
T2T-CHM13v2.01588,632,451 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382619   ⟹   NP_001369548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,871,052 - 90,883,457 (+)NCBI
T2T-CHM13v2.01588,630,302 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382620   ⟹   NP_001369549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,872,168 - 90,883,457 (+)NCBI
T2T-CHM13v2.01588,631,765 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382621   ⟹   NP_001369550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,872,854 - 90,883,457 (+)NCBI
T2T-CHM13v2.01588,632,451 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382622   ⟹   NP_001369551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,868,588 - 90,883,457 (+)NCBI
T2T-CHM13v2.01588,627,830 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002569   ⟹   NP_002560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,868,588 - 90,883,457 (+)NCBI
GRCh371591,411,885 - 91,426,687 (+)ENTREZGENE
Build 361589,212,889 - 89,227,691 (+)NCBI Archive
HuRef1567,523,022 - 67,538,192 (+)ENTREZGENE
CHM1_11591,253,391 - 91,268,262 (+)NCBI
T2T-CHM13v2.01588,627,830 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NR_168464
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,871,540 - 90,883,457 (+)NCBI
T2T-CHM13v2.01588,631,137 - 88,643,054 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002560   ⟸   NM_002569
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6LBS3 (UniProtKB/Swiss-Prot),   Q14336 (UniProtKB/Swiss-Prot),   Q9UCZ5 (UniProtKB/Swiss-Prot),   P09958 (UniProtKB/Swiss-Prot),   A0A7P0T8U2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276752   ⟸   NM_001289823
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6LBS3 (UniProtKB/Swiss-Prot),   Q14336 (UniProtKB/Swiss-Prot),   Q9UCZ5 (UniProtKB/Swiss-Prot),   P09958 (UniProtKB/Swiss-Prot),   A0A7P0T8U2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001276753   ⟸   NM_001289824
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6LBS3 (UniProtKB/Swiss-Prot),   Q14336 (UniProtKB/Swiss-Prot),   Q9UCZ5 (UniProtKB/Swiss-Prot),   P09958 (UniProtKB/Swiss-Prot),   A0A7P0T8U2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369551   ⟸   NM_001382622
- Peptide Label: isoform 2 precursor
RefSeq Acc Id: NP_001369548   ⟸   NM_001382619
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6LBS3 (UniProtKB/Swiss-Prot),   Q14336 (UniProtKB/Swiss-Prot),   P09958 (UniProtKB/Swiss-Prot),   Q9UCZ5 (UniProtKB/Swiss-Prot),   A0A7P0T8U2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369549   ⟸   NM_001382620
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6LBS3 (UniProtKB/Swiss-Prot),   Q14336 (UniProtKB/Swiss-Prot),   P09958 (UniProtKB/Swiss-Prot),   Q9UCZ5 (UniProtKB/Swiss-Prot),   A0A7P0T8U2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369550   ⟸   NM_001382621
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6LBS3 (UniProtKB/Swiss-Prot),   Q14336 (UniProtKB/Swiss-Prot),   P09958 (UniProtKB/Swiss-Prot),   Q9UCZ5 (UniProtKB/Swiss-Prot),   A0A7P0T8U2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000268171   ⟸   ENST00000268171
Ensembl Acc Id: ENSP00000453942   ⟸   ENST00000558794
Ensembl Acc Id: ENSP00000452730   ⟸   ENST00000559353
Ensembl Acc Id: ENSP00000484952   ⟸   ENST00000610579
Ensembl Acc Id: ENSP00000453212   ⟸   ENST00000560824
Ensembl Acc Id: ENSP00000491453   ⟸   ENST00000640725
Ensembl Acc Id: ENSP00000483552   ⟸   ENST00000618099
Ensembl Acc Id: ENSP00000505177   ⟸   ENST00000680687
Ensembl Acc Id: ENSP00000505828   ⟸   ENST00000681804
Ensembl Acc Id: ENSP00000506143   ⟸   ENST00000680053
Ensembl Acc Id: ENSP00000505303   ⟸   ENST00000681865
Protein Domains
P/Homo B   Peptidase S8   Peptidase S8 pro-domain   Peptidase S8/S53

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P09958-F1-model_v2 AlphaFold P09958 1-794 view protein structure

Promoters
RGD ID:6792353
Promoter ID:HG_KWN:22345
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:OTTHUMT00000313492
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,212,794 - 89,213,294 (+)MPROMDB
RGD ID:6810758
Promoter ID:HG_ACW:28087
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:BEYPOY.AAPR07-UNSPLICED,   FURIN.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,214,991 - 89,215,857 (+)MPROMDB
RGD ID:6810754
Promoter ID:HG_ACW:28088
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:FURIN.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,216,331 - 89,217,242 (+)MPROMDB
RGD ID:7230543
Promoter ID:EPDNEW_H21017
Type:initiation region
Name:FURIN_1
Description:furin, paired basic amino acid cleaving enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21016  EPDNEW_H21018  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,868,592 - 90,868,652EPDNEW
RGD ID:7230545
Promoter ID:EPDNEW_H21018
Type:initiation region
Name:FURIN_3
Description:furin, paired basic amino acid cleaving enzyme
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21016  EPDNEW_H21017  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,872,766 - 90,872,826EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8568 AgrOrtholog
COSMIC FURIN COSMIC
Ensembl Genes ENSG00000140564 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268171 ENTREZGENE
  ENST00000268171.8 UniProtKB/Swiss-Prot
  ENST00000558794.1 UniProtKB/TrEMBL
  ENST00000610579 ENTREZGENE
  ENST00000610579.4 UniProtKB/Swiss-Prot
  ENST00000618099 ENTREZGENE
  ENST00000618099.4 UniProtKB/Swiss-Prot
  ENST00000680053 ENTREZGENE
  ENST00000680053.1 UniProtKB/Swiss-Prot
  ENST00000680687.1 UniProtKB/TrEMBL
  ENST00000681804 ENTREZGENE
  ENST00000681804.1 UniProtKB/TrEMBL
  ENST00000681865.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.850 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140564 GTEx
HGNC ID HGNC:8568 ENTREZGENE
Human Proteome Map FURIN Human Proteome Map
InterPro Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-bd-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kexin/furin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8/S53_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8/S53_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_Asp-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_His-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_Ser-AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8_subtilisin-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S8_pro-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S8_pro-domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5045 UniProtKB/Swiss-Prot
NCBI Gene 5045 ENTREZGENE
OMIM 136950 OMIM
PANTHER FURIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROPROTEIN CONVERTASE SUBTILISIN/KEXIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam P_proprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S8_pro-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32894 PharmGKB
PRINTS SUBTILISIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE P_HOMO_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE_ASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUBTILASE_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00261 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Protease propeptides/inhibitors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52743 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T8P1_HUMAN UniProtKB/TrEMBL
  A0A7P0T8U2 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T9X7_HUMAN UniProtKB/TrEMBL
  FURIN_HUMAN UniProtKB/Swiss-Prot
  H0YNB5_HUMAN UniProtKB/TrEMBL
  P09958 ENTREZGENE
  Q14336 ENTREZGENE
  Q6LBS3 ENTREZGENE
  Q9UCZ5 ENTREZGENE
UniProt Secondary Q14336 UniProtKB/Swiss-Prot
  Q6LBS3 UniProtKB/Swiss-Prot
  Q9UCZ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 FURIN  furin, paired basic amino acid cleaving enzyme  FURIN  furin (paired basic amino acid cleaving enzyme)  Symbol and/or name change 5135510 APPROVED