CTSE (cathepsin E) - Rat Genome Database

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Gene: CTSE (cathepsin E) Homo sapiens
Analyze
Symbol: CTSE
Name: cathepsin E
RGD ID: 736046
HGNC Page HGNC:2530
Description: Enables aspartic-type endopeptidase activity. Involved in antigen processing and presentation of exogenous peptide antigen via MHC class II and proteolysis. Located in endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CATE; erythrocyte membrane aspartic proteinase; slow-moving proteinase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
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
GRCh381206,009,264 - 206,023,895 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1206,008,535 - 206,023,909 (-)EnsemblGRCh38hg38GRCh38
GRCh371206,317,473 - 206,332,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,484,082 - 204,498,727 (+)NCBINCBI36Build 36hg18NCBI36
Celera1179,116,519 - 179,131,198 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1177,247,760 - 177,262,405 (+)NCBIHuRef
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-dichloroaniline  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butyric acid  (EXP)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
carbon nanotube  (ISO)
clofibrate  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (ISO)
cyproconazole  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
diuron  (ISO)
doxorubicin  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
furan  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
inulin  (ISO)
ketamine  (ISO)
lipopolysaccharide  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
propiconazole  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:195962   PMID:1370478   PMID:1794985   PMID:1959628   PMID:2226872   PMID:2334440   PMID:2369841   PMID:2674141   PMID:7789521   PMID:7983070   PMID:8346912   PMID:8457383  
PMID:8491674   PMID:8759606   PMID:8765029   PMID:9502222   PMID:11322887   PMID:11337467   PMID:12477932   PMID:12531480   PMID:12631277   PMID:12843568   PMID:14769879   PMID:15342244  
PMID:15489334   PMID:15699105   PMID:15845357   PMID:16169070   PMID:16997486   PMID:17888866   PMID:17947645   PMID:18006832   PMID:18996084   PMID:19172291   PMID:20600629   PMID:21664991  
PMID:21873635   PMID:22068166   PMID:22718633   PMID:23376485   PMID:23451082   PMID:24242330   PMID:24464956   PMID:25239563   PMID:25348778   PMID:28514442   PMID:29987050   PMID:30278264  
PMID:31436131   PMID:33961781   PMID:35181976   PMID:36369321  


Genomics

Comparative Map Data
CTSE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381206,009,264 - 206,023,895 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1206,008,535 - 206,023,909 (-)EnsemblGRCh38hg38GRCh38
GRCh371206,317,473 - 206,332,104 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361204,484,082 - 204,498,727 (+)NCBINCBI36Build 36hg18NCBI36
Celera1179,116,519 - 179,131,198 (-)NCBICelera
Cytogenetic Map1q32.1NCBI
HuRef1177,247,760 - 177,262,405 (+)NCBIHuRef
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBIT2T-CHM13v2.0
Ctse
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391131,566,052 - 131,603,245 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1131,566,044 - 131,603,243 (+)EnsemblGRCm39 Ensembl
GRCm381131,638,314 - 131,675,507 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1131,638,306 - 131,675,505 (+)EnsemblGRCm38mm10GRCm38
MGSCv371133,534,891 - 133,572,084 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361133,465,860 - 133,503,049 (+)NCBIMGSCv36mm8
Celera1134,250,340 - 134,281,876 (+)NCBICelera
Cytogenetic Map1E4NCBI
cM Map157.14NCBI
Ctse
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81345,644,168 - 45,666,722 (+)NCBIGRCr8
mRatBN7.21343,091,954 - 43,114,509 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1343,092,128 - 43,114,502 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1345,695,406 - 45,717,865 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01346,983,544 - 47,006,003 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01344,248,051 - 44,270,572 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01348,426,833 - 48,449,493 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1348,426,820 - 48,449,490 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01353,498,965 - 53,521,605 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41344,582,911 - 44,605,241 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11344,596,953 - 44,619,284 (+)NCBI
Celera1343,430,588 - 43,452,924 (+)NCBICelera
Cytogenetic Map13q13NCBI
Ctse
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540641,641,311 - 41,653,296 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540641,641,412 - 41,653,261 (-)NCBIChiLan1.0ChiLan1.0
CTSE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2143,346,170 - 43,361,406 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1143,311,665 - 43,326,899 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01181,617,421 - 181,632,260 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11185,900,746 - 185,915,368 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1185,900,746 - 185,915,519 (-)Ensemblpanpan1.1panPan2
CTSE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1382,368,711 - 2,380,554 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl382,369,265 - 2,380,459 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha382,461,257 - 2,473,099 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0382,365,859 - 2,377,730 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl382,365,857 - 2,377,890 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1382,359,989 - 2,371,820 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0382,751,514 - 2,763,344 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0382,952,739 - 2,964,581 (-)NCBIUU_Cfam_GSD_1.0
Ctse
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934469,245,473 - 69,258,551 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365576,485,755 - 6,498,833 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365576,485,783 - 6,498,805 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTSE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12523,318,421 - 23,333,885 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2523,319,248 - 23,332,980 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605524,017,015 - 24,031,766 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ctse
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248075,291,736 - 5,305,104 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248075,291,993 - 5,306,507 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CTSE
28 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11		 pathogenic
GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 copy number gain See cases [RCV000051859] Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2		 pathogenic
NM_001910.3(CTSE):c.143C>T (p.Ser48Phe) single nucleotide variant Malignant melanoma [RCV000064483] Chr1:206022983 [GRCh38]
Chr1:206318385 [GRCh37]
Chr1:204485008 [NCBI36]
Chr1:1q32.1		 not provided
NM_001910.3(CTSE):c.583G>A (p.Gly195Arg) single nucleotide variant Malignant melanoma [RCV000064484] Chr1:206016010 [GRCh38]
Chr1:206325358 [GRCh37]
Chr1:204491981 [NCBI36]
Chr1:1q32.1		 not provided
NM_001910.4(CTSE):c.319G>A (p.Val107Met) single nucleotide variant Malignant tumor of prostate [RCV000149122] Chr1:206022174 [GRCh38]
Chr1:206319194 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
NM_001910.4(CTSE):c.1163G>A (p.Arg388His) single nucleotide variant Inborn genetic diseases [RCV003244813] Chr1:206010211 [GRCh38]
Chr1:206331157 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q32.1(chr1:206320311-206331223)x1 copy number loss See cases [RCV000447967] Chr1:206320311..206331223 [GRCh37]
Chr1:1q32.1		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001910.4(CTSE):c.1052G>C (p.Cys351Ser) single nucleotide variant Inborn genetic diseases [RCV003255398] Chr1:206010322 [GRCh38]
Chr1:206331046 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) copy number loss Global developmental delay [RCV000626524] Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q32.1(chr1:206310322-206329053)x1 copy number loss not provided [RCV000736841] Chr1:206310322..206329053 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q32.1(chr1:206315933-206329582)x1 copy number loss not provided [RCV000736842] Chr1:206315933..206329582 [GRCh37]
Chr1:1q32.1		 benign
NC_000001.11:g.(?_204033173)_(208209798_?)del deletion Autism [RCV000754138] Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2		 likely pathogenic
GRCh37/hg19 1q32.1(chr1:206315933-206331193)x1 copy number loss not provided [RCV000736843] Chr1:206315933..206331193 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q32.1(chr1:206316055-206329582)x1 copy number loss not provided [RCV000736844] Chr1:206316055..206329582 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q32.1(chr1:206316055-206581938)x1 copy number loss not provided [RCV000736845] Chr1:206316055..206581938 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q32.1(chr1:206317334-206329582)x1 copy number loss not provided [RCV000736846] Chr1:206317334..206329582 [GRCh37]
Chr1:1q32.1		 benign
GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 copy number gain not provided [RCV000749265] Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41		 pathogenic
GRCh37/hg19 1q32.1(chr1:206317947-206329053)x1 copy number loss not provided [RCV000749331] Chr1:206317947..206329053 [GRCh37]
Chr1:1q32.1		 benign
NM_001910.4(CTSE):c.985G>A (p.Gly329Arg) single nucleotide variant Inborn genetic diseases [RCV003270946] Chr1:206012349 [GRCh38]
Chr1:206329019 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 copy number gain not provided [RCV000848713] Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3		 uncertain significance
GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 copy number gain not provided [RCV001249273] Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2		 not provided
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
NC_000001.10:g.(?_200522516)_(206945780_?)dup duplication Epilepsy, familial adult myoclonic, 5 [RCV003116306] Chr1:200522516..206945780 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.1027G>C (p.Asp343His) single nucleotide variant not provided [RCV003120246] Chr1:206010347 [GRCh38]
Chr1:206331021 [GRCh37]
Chr1:1q32.1		 uncertain significance
NC_000001.10:g.(?_200522516)_(208391267_?)dup duplication Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
NM_001910.4(CTSE):c.688G>A (p.Glu230Lys) single nucleotide variant Inborn genetic diseases [RCV003256030] Chr1:206013869 [GRCh38]
Chr1:206327499 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.856C>T (p.Leu286Phe) single nucleotide variant Inborn genetic diseases [RCV003306345] Chr1:206012579 [GRCh38]
Chr1:206328789 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.365C>T (p.Pro122Leu) single nucleotide variant Inborn genetic diseases [RCV002749816] Chr1:206021146 [GRCh38]
Chr1:206320222 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.110G>A (p.Arg37Gln) single nucleotide variant Inborn genetic diseases [RCV002774002] Chr1:206023016 [GRCh38]
Chr1:206318352 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.133T>C (p.Phe45Leu) single nucleotide variant Inborn genetic diseases [RCV002777122] Chr1:206022993 [GRCh38]
Chr1:206318375 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.997A>T (p.Thr333Ser) single nucleotide variant Inborn genetic diseases [RCV002989778] Chr1:206012337 [GRCh38]
Chr1:206329031 [GRCh37]
Chr1:1q32.1		 uncertain significance
GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 copy number gain not provided [RCV002475637] Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3		 pathogenic
NM_001910.4(CTSE):c.172G>A (p.Glu58Lys) single nucleotide variant Inborn genetic diseases [RCV002973045] Chr1:206022954 [GRCh38]
Chr1:206318414 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.451G>A (p.Asp151Asn) single nucleotide variant Inborn genetic diseases [RCV002704078] Chr1:206021060 [GRCh38]
Chr1:206320308 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.109C>T (p.Arg37Trp) single nucleotide variant Inborn genetic diseases [RCV002981711] Chr1:206023017 [GRCh38]
Chr1:206318351 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.239G>A (p.Gly80Asp) single nucleotide variant Inborn genetic diseases [RCV002949806] Chr1:206022254 [GRCh38]
Chr1:206319114 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.775G>C (p.Ala259Pro) single nucleotide variant Inborn genetic diseases [RCV002888012] Chr1:206013782 [GRCh38]
Chr1:206327586 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.609C>A (p.Asn203Lys) single nucleotide variant Inborn genetic diseases [RCV002713249] Chr1:206015984 [GRCh38]
Chr1:206325384 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.62T>C (p.Leu21Pro) single nucleotide variant Inborn genetic diseases [RCV002807673] Chr1:206023730 [GRCh38]
Chr1:206317638 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.226A>G (p.Met76Val) single nucleotide variant Inborn genetic diseases [RCV002677827] Chr1:206022267 [GRCh38]
Chr1:206319101 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.303C>A (p.Asn101Lys) single nucleotide variant Inborn genetic diseases [RCV003191523] Chr1:206022190 [GRCh38]
Chr1:206319178 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.901A>C (p.Ile301Leu) single nucleotide variant Inborn genetic diseases [RCV003206768] Chr1:206012534 [GRCh38]
Chr1:206328834 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.962C>T (p.Pro321Leu) single nucleotide variant Inborn genetic diseases [RCV003209743] Chr1:206012372 [GRCh38]
Chr1:206328996 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.745C>A (p.Pro249Thr) single nucleotide variant Inborn genetic diseases [RCV003183643] Chr1:206013812 [GRCh38]
Chr1:206327556 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.562G>A (p.Gly188Arg) single nucleotide variant Inborn genetic diseases [RCV003340087] Chr1:206016031 [GRCh38]
Chr1:206325337 [GRCh37]
Chr1:1q32.1		 uncertain significance
NM_001910.4(CTSE):c.984C>T (p.Asn328=) single nucleotide variant Inborn genetic diseases [RCV003353788] Chr1:206012350 [GRCh38]
Chr1:206329018 [GRCh37]
Chr1:1q32.1		 likely benign
NM_001910.4(CTSE):c.187G>T (p.Asp63Tyr) single nucleotide variant Inborn genetic diseases [RCV003357103] Chr1:206022939 [GRCh38]
Chr1:206318429 [GRCh37]
Chr1:1q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1739
Count of miRNA genes:635
Interacting mature miRNAs:695
Transcripts:ENST00000358184, ENST00000360218, ENST00000361052, ENST00000432969, ENST00000468617, ENST00000486757
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
D1S3200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,331,208 - 206,331,313UniSTSGRCh37
Build 361204,497,831 - 204,497,936RGDNCBI36
Celera1179,117,310 - 179,117,415RGD
Cytogenetic Map1q31UniSTS
HuRef1177,261,509 - 177,261,614UniSTS
GeneMap99-G3 RH Map17972.0UniSTS
AL033753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,327,573 - 206,327,699UniSTSGRCh37
Build 361204,494,196 - 204,494,322RGDNCBI36
Celera1179,120,924 - 179,121,083RGD
Cytogenetic Map1q31UniSTS
HuRef1177,257,874 - 177,258,000UniSTS
RH104483  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,331,208 - 206,331,408UniSTSGRCh37
Build 361204,497,831 - 204,498,031RGDNCBI36
Celera1179,117,215 - 179,117,415RGD
Cytogenetic Map1q31UniSTS
HuRef1177,261,509 - 177,261,709UniSTS
GeneMap99-GB4 RH Map1682.48UniSTS
SHGC-81197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,331,653 - 206,331,959UniSTSGRCh37
Build 361204,498,276 - 204,498,582RGDNCBI36
Celera1179,116,664 - 179,116,970RGD
Cytogenetic Map1q31UniSTS
HuRef1177,261,954 - 177,262,260UniSTS
TNG Radiation Hybrid Map1101643.0UniSTS
G15897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,331,276 - 206,331,394UniSTSGRCh37
Build 361204,497,899 - 204,498,017RGDNCBI36
Celera1179,117,229 - 179,117,347RGD
Cytogenetic Map1q31UniSTS
HuRef1177,261,577 - 177,261,695UniSTS
CTSE_571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,331,264 - 206,332,161UniSTSGRCh37
Build 361204,497,887 - 204,498,784RGDNCBI36
Celera1179,116,462 - 179,117,359RGD
HuRef1177,261,565 - 177,262,462UniSTS
SHGC-76246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371206,331,836 - 206,332,023UniSTSGRCh37
Build 361204,498,459 - 204,498,646RGDNCBI36
Celera1179,116,600 - 179,116,787RGD
Cytogenetic Map1q31UniSTS
HuRef1177,262,137 - 177,262,324UniSTS
TNG Radiation Hybrid Map1101649.0UniSTS
GeneMap99-GB4 RH Map1682.41UniSTS
NCBI RH Map11791.2UniSTS


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 adipose tissue appendage entire extraembryonic component
High 12 2 2 2 1 2 8
Medium 448 12 390 31 53 32 2 3 2 27 26 936 3
Low 533 546 599 50 686 51 119 32 226 104 196 457 6 50 21
Below cutoff 1029 1546 529 388 680 288 2648 1209 1957 197 981 82 103 755 1646 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001317331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011509245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054334700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX571818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FO535328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358184   ⟹   ENSP00000350911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,009,264 - 206,023,895 (-)Ensembl
RefSeq Acc Id: ENST00000360218   ⟹   ENSP00000353350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,009,264 - 206,023,895 (-)Ensembl
RefSeq Acc Id: ENST00000468617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,010,260 - 206,021,374 (-)Ensembl
RefSeq Acc Id: ENST00000486757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,012,331 - 206,014,130 (-)Ensembl
RefSeq Acc Id: ENST00000677780   ⟹   ENSP00000503890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,013,803 - 206,023,895 (-)Ensembl
RefSeq Acc Id: ENST00000677924   ⟹   ENSP00000504853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,013,772 - 206,023,838 (-)Ensembl
RefSeq Acc Id: ENST00000678285   ⟹   ENSP00000504037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,013,772 - 206,023,895 (-)Ensembl
RefSeq Acc Id: ENST00000678498   ⟹   ENSP00000504305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,008,535 - 206,023,909 (-)Ensembl
RefSeq Acc Id: ENST00000678712   ⟹   ENSP00000503796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1206,009,574 - 206,023,895 (-)Ensembl
RefSeq Acc Id: NM_001317331   ⟹   NP_001304260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,009,264 - 206,023,895 (-)NCBI
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001910   ⟹   NP_001901
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,009,264 - 206,023,895 (-)NCBI
GRCh371206,317,459 - 206,332,104 (+)ENTREZGENE
Build 361204,484,082 - 204,498,727 (+)NCBI Archive
HuRef1177,247,760 - 177,262,405 (+)ENTREZGENE
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBI
Sequence:
RefSeq Acc Id: NM_148964   ⟹   NP_683865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,009,264 - 206,023,895 (-)NCBI
GRCh371206,317,459 - 206,332,104 (+)ENTREZGENE
Build 361204,484,082 - 204,498,727 (+)NCBI Archive
HuRef1177,247,760 - 177,262,405 (+)ENTREZGENE
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509244   ⟹   XP_011507546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,009,264 - 206,023,895 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011509245   ⟹   XP_011507547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,009,264 - 206,023,895 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054334699   ⟹   XP_054190674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBI
RefSeq Acc Id: XM_054334700   ⟹   XP_054190675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01205,273,263 - 205,287,895 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001901   ⟸   NM_001910
- Peptide Label: isoform a preproprotein
- UniProtKB: Q9UCE3 (UniProtKB/Swiss-Prot),   Q9NY58 (UniProtKB/Swiss-Prot),   Q5TZ02 (UniProtKB/Swiss-Prot),   Q5TZ01 (UniProtKB/Swiss-Prot),   Q9UCE4 (UniProtKB/Swiss-Prot),   P14091 (UniProtKB/Swiss-Prot),   A0A7I2V480 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_683865   ⟸   NM_148964
- Peptide Label: isoform b precursor
- UniProtKB: P14091 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011507547   ⟸   XM_011509245
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011507546   ⟸   XM_011509244
- Peptide Label: isoform X1
- UniProtKB: A0A7P0MPN9 (UniProtKB/TrEMBL),   A0A7I2V480 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304260   ⟸   NM_001317331
- Peptide Label: isoform c
- UniProtKB: B4DNU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000353350   ⟸   ENST00000360218
RefSeq Acc Id: ENSP00000350911   ⟸   ENST00000358184
RefSeq Acc Id: ENSP00000504853   ⟸   ENST00000677924
RefSeq Acc Id: ENSP00000503890   ⟸   ENST00000677780
RefSeq Acc Id: ENSP00000504305   ⟸   ENST00000678498
RefSeq Acc Id: ENSP00000504037   ⟸   ENST00000678285
RefSeq Acc Id: ENSP00000503796   ⟸   ENST00000678712
RefSeq Acc Id: XP_054190675   ⟸   XM_054334700
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054190674   ⟸   XM_054334699
- Peptide Label: isoform X1
- UniProtKB: A0A7P0MPN9 (UniProtKB/TrEMBL)
Protein Domains
Peptidase A1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14091-F1-model_v2 AlphaFold P14091 1-396 view protein structure

Promoters
RGD ID:6858764
Promoter ID:EPDNEW_H2547
Type:initiation region
Name:CTSE_1
Description:cathepsin E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381206,023,814 - 206,023,874EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2530 AgrOrtholog
COSMIC CTSE COSMIC
Ensembl Genes ENSG00000196188 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358184 ENTREZGENE
  ENST00000358184.7 UniProtKB/Swiss-Prot
  ENST00000360218 ENTREZGENE
  ENST00000360218.3 UniProtKB/TrEMBL
  ENST00000677780.1 UniProtKB/TrEMBL
  ENST00000677924.1 UniProtKB/TrEMBL
  ENST00000678285.1 UniProtKB/TrEMBL
  ENST00000678498 ENTREZGENE
  ENST00000678498.1 UniProtKB/Swiss-Prot
  ENST00000678712.1 UniProtKB/TrEMBL
Gene3D-CATH 2.40.70.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196188 GTEx
HGNC ID HGNC:2530 ENTREZGENE
Human Proteome Map CTSE Human Proteome Map
InterPro Aspartic_peptidase_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aspartic_peptidase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aspartic_peptidase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_aspartic_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1510 UniProtKB/Swiss-Prot
NCBI Gene 1510 ENTREZGENE
OMIM 116890 OMIM
PANTHER PTHR47966 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR47966:SF26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam A1_Propeptide UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27030 PharmGKB
PRINTS PEPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASP_PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50630 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V480 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4C5_HUMAN UniProtKB/TrEMBL
  A0A7I2V4K7_HUMAN UniProtKB/TrEMBL
  A0A7I2V648_HUMAN UniProtKB/TrEMBL
  A0A7P0MPN9 ENTREZGENE, UniProtKB/TrEMBL
  B4DNU8 ENTREZGENE, UniProtKB/TrEMBL
  CATE_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5TZ01 ENTREZGENE
  Q5TZ02 ENTREZGENE
  Q9NY58 ENTREZGENE
  Q9UCE3 ENTREZGENE
  Q9UCE4 ENTREZGENE
UniProt Secondary Q5TZ01 UniProtKB/Swiss-Prot
  Q5TZ02 UniProtKB/Swiss-Prot
  Q9NY58 UniProtKB/Swiss-Prot
  Q9UCE3 UniProtKB/Swiss-Prot
  Q9UCE4 UniProtKB/Swiss-Prot