PCOLCE (procollagen C-endopeptidase enhancer) - Rat Genome Database

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Gene: PCOLCE (procollagen C-endopeptidase enhancer) Homo sapiens
Analyze
Symbol: PCOLCE
Name: procollagen C-endopeptidase enhancer
RGD ID: 733466
HGNC Page HGNC:8738
Description: Enables collagen binding activity; heparin binding activity; and peptidase activator activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in collagen-containing extracellular matrix and extracellular exosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCPE; PCPE-1; PCPE1; procollagen C-endopeptidase enhancer 1; procollagen C-proteinase enhancer 1; procollagen COOH-terminal proteinase enhancer 1; procollagen, type 1, COOH-terminal proteinase enhancer; type 1 procollagen C-proteinase enhancer protein; type I procollagen COOH-terminal proteinase enhancer
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,602,363 - 100,608,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,602,363 - 100,608,175 (+)EnsemblGRCh38hg38GRCh38
GRCh377100,199,986 - 100,205,798 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,037,818 - 100,043,734 (+)NCBINCBI36Build 36hg18NCBI36
Build 34799,844,640 - 99,850,445NCBI
Celera794,929,679 - 94,935,595 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef794,831,551 - 94,837,467 (+)NCBIHuRef
CHM1_17100,130,452 - 100,136,368 (+)NCBICHM1_1
T2T-CHM13v2.07101,842,444 - 101,848,256 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,559,515 - 99,565,431 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-butoxyethanol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
alachlor  (ISO)
alendronic acid  (ISO)
all-trans-retinoic acid  (ISO)
allyl alcohol  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
cisplatin  (ISO)
clobetasol  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
fenthion  (ISO)
glafenine  (ISO)
indometacin  (EXP)
inulin  (ISO)
isotretinoin  (EXP)
methapyrilene  (EXP)
methotrexate  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
oxaliplatin  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
potassium dichromate  (EXP)
raloxifene  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP,ISO)
sulforaphane  (EXP)
tacrolimus hydrate  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
tetradecane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7523404   PMID:8824813   PMID:9799793   PMID:9933570   PMID:10625689   PMID:12105202   PMID:12393284   PMID:12393877   PMID:12477932   PMID:12486138   PMID:12670942   PMID:15489334  
PMID:15817489   PMID:16507574   PMID:17446170   PMID:17602227   PMID:18164932   PMID:18350290   PMID:19361460   PMID:19801683   PMID:20207734   PMID:20551380   PMID:20729553   PMID:20979576  
PMID:21362503   PMID:21569766   PMID:21873635   PMID:21940633   PMID:22990118   PMID:23376485   PMID:23533145   PMID:23550162   PMID:23815790   PMID:24117177   PMID:25286301   PMID:27068509  
PMID:28106549   PMID:29683980   PMID:29721183   PMID:29872149   PMID:30078642   PMID:30393914   PMID:31285765   PMID:32393512   PMID:35148334   PMID:35696571   PMID:36173536   PMID:36215168  
PMID:36252654   PMID:36596064   PMID:36882457  


Genomics

Comparative Map Data
PCOLCE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387100,602,363 - 100,608,175 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7100,602,363 - 100,608,175 (+)EnsemblGRCh38hg38GRCh38
GRCh377100,199,986 - 100,205,798 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367100,037,818 - 100,043,734 (+)NCBINCBI36Build 36hg18NCBI36
Build 34799,844,640 - 99,850,445NCBI
Celera794,929,679 - 94,935,595 (+)NCBICelera
Cytogenetic Map7q22.1NCBI
HuRef794,831,551 - 94,837,467 (+)NCBIHuRef
CHM1_17100,130,452 - 100,136,368 (+)NCBICHM1_1
T2T-CHM13v2.07101,842,444 - 101,848,256 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2799,559,515 - 99,565,431 (+)NCBI
Pcolce
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395137,603,369 - 137,609,666 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5137,603,365 - 137,612,046 (-)EnsemblGRCm39 Ensembl
GRCm385137,605,105 - 137,611,522 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5137,605,103 - 137,613,784 (-)EnsemblGRCm38mm10GRCm38
MGSCv375138,046,335 - 138,052,632 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365137,834,897 - 137,841,156 (-)NCBIMGSCv36mm8
Celera5134,588,390 - 134,594,725 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map576.59NCBI
Pcolce
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81224,720,972 - 24,727,287 (+)NCBIGRCr8
mRatBN7.21219,084,191 - 19,090,508 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1219,084,210 - 19,090,508 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1220,239,351 - 20,245,667 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01220,852,235 - 20,858,548 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01219,916,562 - 19,922,878 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01222,153,995 - 22,160,311 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1222,153,983 - 22,160,337 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01224,171,371 - 24,177,687 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41219,672,505 - 19,678,821 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11219,662,066 - 19,668,383 (-)NCBI
Celera1220,889,573 - 20,895,889 (+)NCBICelera
Cytogenetic Map12q12NCBI
Pcolce
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955573299,521 - 304,325 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955573299,443 - 304,672 (-)NCBIChiLan1.0ChiLan1.0
PCOLCE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26118,513,634 - 118,519,669 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17166,777,293 - 166,784,314 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0792,629,148 - 92,635,357 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17106,030,603 - 106,036,654 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7106,030,934 - 106,036,582 (+)Ensemblpanpan1.1panPan2
PCOLCE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.169,085,145 - 9,090,447 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl69,085,145 - 9,090,146 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha610,789,558 - 10,795,432 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.069,019,351 - 9,025,225 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl69,019,358 - 9,024,376 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.168,871,854 - 8,877,728 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.068,849,536 - 8,854,860 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.069,031,772 - 9,037,646 (-)NCBIUU_Cfam_GSD_1.0
Pcolce
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344133,376,625 - 133,382,024 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936543653,824 - 659,883 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936543653,844 - 659,905 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PCOLCE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl38,523,449 - 8,528,739 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.138,523,455 - 8,528,749 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.237,918,291 - 7,923,587 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PCOLCE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12812,604,552 - 12,610,814 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2812,604,526 - 12,610,814 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660703,693,856 - 3,700,208 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pcolce
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474016,475,058 - 16,480,807 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474016,476,004 - 16,480,818 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PCOLCE
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 copy number loss See cases [RCV000054154] Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1 copy number loss See cases [RCV000054155] Chr7:100419914..102482826 [GRCh38]
Chr7:100017537..102123273 [GRCh37]
Chr7:99855473..101910278 [NCBI36]
Chr7:7q22.1		 pathogenic
NM_002593.3(PCOLCE):c.622G>A (p.Glu208Lys) single nucleotide variant Malignant melanoma [RCV000067520] Chr7:100605709 [GRCh38]
Chr7:100203332 [GRCh37]
Chr7:100041268 [NCBI36]
Chr7:7q22.1		 not provided
NM_002593.3(PCOLCE):c.835A>G (p.Lys279Glu) single nucleotide variant Malignant melanoma [RCV000067521] Chr7:100606525 [GRCh38]
Chr7:100204148 [GRCh37]
Chr7:100042084 [NCBI36]
Chr7:7q22.1		 not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1		 pathogenic|uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002593.4(PCOLCE):c.908C>T (p.Pro303Leu) single nucleotide variant Inborn genetic diseases [RCV003247616] Chr7:100606598 [GRCh38]
Chr7:100204221 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1 copy number loss not provided [RCV000682904] Chr7:98847725..102472176 [GRCh37]
Chr7:7q22.1		 pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1(chr7:100141861-100552714)x1 copy number loss not provided [RCV000746918] Chr7:100141861..100552714 [GRCh37]
Chr7:7q22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_002593.4(PCOLCE):c.1330G>C (p.Ala444Pro) single nucleotide variant not provided [RCV000962912] Chr7:100608083 [GRCh38]
Chr7:100205706 [GRCh37]
Chr7:7q22.1		 benign
NM_002593.4(PCOLCE):c.862C>T (p.Arg288Trp) single nucleotide variant Inborn genetic diseases [RCV003273718] Chr7:100606552 [GRCh38]
Chr7:100204175 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1 copy number loss See cases [RCV001195072] Chr7:99593346..102470275 [GRCh37]
Chr7:7q22.1		 likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327) copy number gain Isolated Pierre-Robin syndrome [RCV001352649] Chr7:87477185..100333327 [GRCh37]
Chr7:7q21.12-22.1		 pathogenic
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NC_000007.13:g.(?_98983338)_(100860555_?)del deletion not provided [RCV001877526] Chr7:98983338..100860555 [GRCh37]
Chr7:7q22.1		 pathogenic|uncertain significance
NC_000007.13:g.(?_98507659)_(100860555_?)dup duplication not provided [RCV003113282] Chr7:98507659..100860555 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_002593.4(PCOLCE):c.1324G>C (p.Val442Leu) single nucleotide variant Inborn genetic diseases [RCV002841219] Chr7:100608077 [GRCh38]
Chr7:100205700 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.374A>G (p.Asn125Ser) single nucleotide variant Inborn genetic diseases [RCV002772144] Chr7:100604128 [GRCh38]
Chr7:100201751 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.125A>T (p.Lys42Met) single nucleotide variant Inborn genetic diseases [RCV002990097] Chr7:100603459 [GRCh38]
Chr7:100201082 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.555C>G (p.Ser185Arg) single nucleotide variant Inborn genetic diseases [RCV002777671] Chr7:100605182 [GRCh38]
Chr7:100202805 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.1265G>A (p.Arg422Gln) single nucleotide variant Inborn genetic diseases [RCV002859356] Chr7:100608018 [GRCh38]
Chr7:100205641 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.670G>T (p.Ala224Ser) single nucleotide variant Inborn genetic diseases [RCV002946464] Chr7:100605757 [GRCh38]
Chr7:100203380 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.256C>A (p.Leu86Met) single nucleotide variant Inborn genetic diseases [RCV002821778] Chr7:100604010 [GRCh38]
Chr7:100201633 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.305G>C (p.Gly102Ala) single nucleotide variant Inborn genetic diseases [RCV002763476] Chr7:100604059 [GRCh38]
Chr7:100201682 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.175C>G (p.Pro59Ala) single nucleotide variant Inborn genetic diseases [RCV002665430] Chr7:100603509 [GRCh38]
Chr7:100201132 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.878A>G (p.Lys293Arg) single nucleotide variant Inborn genetic diseases [RCV002831159] Chr7:100606568 [GRCh38]
Chr7:100204191 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.17C>G (p.Thr6Arg) single nucleotide variant Inborn genetic diseases [RCV002655989] Chr7:100602473 [GRCh38]
Chr7:100200096 [GRCh37]
Chr7:7q22.1		 uncertain significance
NM_002593.4(PCOLCE):c.292T>C (p.Phe98Leu) single nucleotide variant Inborn genetic diseases [RCV003181259] Chr7:100604046 [GRCh38]
Chr7:100201669 [GRCh37]
Chr7:7q22.1		 uncertain significance
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV003327701] Chr7:98454022..100723798 [GRCh38]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1 copy number loss not provided [RCV003482971] Chr7:99114000..101878272 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1 copy number loss not specified [RCV003986701] Chr7:98396469..102108193 [GRCh37]
Chr7:7q22.1		 likely pathogenic
NM_002593.4(PCOLCE):c.823C>A (p.Arg275=) single nucleotide variant PCOLCE-related condition [RCV003912188] Chr7:100606513 [GRCh38]
Chr7:100204136 [GRCh37]
Chr7:7q22.1		 likely benign
NM_002593.4(PCOLCE):c.1014G>A (p.Val338=) single nucleotide variant PCOLCE-related condition [RCV003924585] Chr7:100607638 [GRCh38]
Chr7:100205261 [GRCh37]
Chr7:7q22.1		 benign
NM_002593.4(PCOLCE):c.1327C>T (p.Arg443Trp) single nucleotide variant PCOLCE-related condition [RCV003932046] Chr7:100608080 [GRCh38]
Chr7:100205703 [GRCh37]
Chr7:7q22.1		 benign
NM_002593.4(PCOLCE):c.822G>A (p.Pro274=) single nucleotide variant PCOLCE-related condition [RCV003909831] Chr7:100606512 [GRCh38]
Chr7:100204135 [GRCh37]
Chr7:7q22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3296
Count of miRNA genes:937
Interacting mature miRNAs:1159
Transcripts:ENST00000223061, ENST00000460002, ENST00000462260, ENST00000468214, ENST00000472348, ENST00000482863, ENST00000486440, ENST00000487172, ENST00000490909, ENST00000496269
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH98230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,205,340 - 100,205,629UniSTSGRCh37
Build 367100,043,276 - 100,043,565RGDNCBI36
Celera794,935,137 - 94,935,426RGD
Cytogenetic Map7q22UniSTS
HuRef794,837,009 - 94,837,298UniSTS
CRA_TCAGchr7v2799,564,973 - 99,565,262UniSTS
GeneMap99-GB4 RH Map7516.34UniSTS
RH79682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,205,126 - 100,205,629UniSTSGRCh37
Build 367100,043,062 - 100,043,565RGDNCBI36
Celera794,934,923 - 94,935,426RGD
Cytogenetic Map7q22UniSTS
HuRef794,836,795 - 94,837,298UniSTS
CRA_TCAGchr7v2799,564,759 - 99,565,262UniSTS
GeneMap99-GB4 RH Map7510.82UniSTS
D7S2120E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,205,343 - 100,205,624UniSTSGRCh37
Build 367100,043,279 - 100,043,560RGDNCBI36
Celera794,935,140 - 94,935,421RGD
Cytogenetic Map7q22UniSTS
HuRef794,837,012 - 94,837,293UniSTS
CRA_TCAGchr7v2799,564,976 - 99,565,257UniSTS
PCOLCE  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377100,205,337 - 100,205,600UniSTSGRCh37
Build 367100,043,273 - 100,043,536RGDNCBI36
Celera794,935,134 - 94,935,397RGD
Cytogenetic Map7q22UniSTS
HuRef794,837,006 - 94,837,269UniSTS
CRA_TCAGchr7v2799,564,970 - 99,565,233UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 5 1 2
Medium 2133 2192 1648 562 537 408 3709 1539 1510 294 1350 1432 155 1204 2202 1
Low 297 782 75 62 1318 56 642 655 2199 124 100 172 17 1 586 4 2
Below cutoff 6 12 2 91 1 3 6 1 7 6 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000223061   ⟹   ENSP00000223061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,602,363 - 100,608,175 (+)Ensembl
RefSeq Acc Id: ENST00000460002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,604,817 - 100,605,552 (+)Ensembl
RefSeq Acc Id: ENST00000462260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,603,163 - 100,604,136 (+)Ensembl
RefSeq Acc Id: ENST00000468214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,604,438 - 100,605,566 (+)Ensembl
RefSeq Acc Id: ENST00000472348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,606,149 - 100,608,171 (+)Ensembl
RefSeq Acc Id: ENST00000482863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,603,786 - 100,605,232 (+)Ensembl
RefSeq Acc Id: ENST00000486440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,605,153 - 100,607,743 (+)Ensembl
RefSeq Acc Id: ENST00000487172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,604,032 - 100,605,590 (+)Ensembl
RefSeq Acc Id: ENST00000490909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,604,988 - 100,605,765 (+)Ensembl
RefSeq Acc Id: ENST00000496269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7100,602,403 - 100,604,905 (+)Ensembl
RefSeq Acc Id: NM_002593   ⟹   NP_002584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,602,363 - 100,608,175 (+)NCBI
GRCh377100,199,882 - 100,205,798 (+)ENTREZGENE
Build 367100,037,818 - 100,043,734 (+)NCBI Archive
HuRef794,831,551 - 94,837,467 (+)ENTREZGENE
CHM1_17100,130,452 - 100,136,368 (+)NCBI
T2T-CHM13v2.07101,842,444 - 101,848,256 (+)NCBI
CRA_TCAGchr7v2799,559,515 - 99,565,431 (+)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002584   ⟸   NM_002593
- Peptide Label: precursor
- UniProtKB: B2R9E1 (UniProtKB/Swiss-Prot),   O14550 (UniProtKB/Swiss-Prot),   Q15113 (UniProtKB/Swiss-Prot),   A4D2D2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000223061   ⟸   ENST00000223061
Protein Domains
CUB   NTR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15113-F1-model_v2 AlphaFold Q15113 1-449 view protein structure

Promoters
RGD ID:6805990
Promoter ID:HG_KWN:58951
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000345286,   UC003UVO.2,   UC010LHB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,037,661 - 100,038,161 (+)MPROMDB
RGD ID:6805988
Promoter ID:HG_KWN:58952
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000345288,   OTTHUMT00000345289,   OTTHUMT00000345290,   OTTHUMT00000345291,   OTTHUMT00000345292,   OTTHUMT00000345293,   OTTHUMT00000345294
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,039,836 - 100,040,437 (+)MPROMDB
RGD ID:6805989
Promoter ID:HG_KWN:58954
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   NB4
Transcripts:OTTHUMT00000345295,   UC003UVP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367100,041,074 - 100,041,574 (+)MPROMDB
RGD ID:7211385
Promoter ID:EPDNEW_H11438
Type:initiation region
Name:PCOLCE_2
Description:procollagen C-endopeptidase enhancer
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11439  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,602,236 - 100,602,296EPDNEW
RGD ID:7211387
Promoter ID:EPDNEW_H11439
Type:initiation region
Name:PCOLCE_1
Description:procollagen C-endopeptidase enhancer
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11438  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387100,602,367 - 100,602,427EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8738 AgrOrtholog
COSMIC PCOLCE COSMIC
Ensembl Genes ENSG00000106333 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000223061 ENTREZGENE
  ENST00000223061.6 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.290 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106333 GTEx
HGNC ID HGNC:8738 ENTREZGENE
Human Proteome Map PCOLCE Human Proteome Map
InterPro CUB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Netrin_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Netrin_module_non-TIMP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR_PCOLCE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIMP-like_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5118 UniProtKB/Swiss-Prot
NCBI Gene 5118 ENTREZGENE
OMIM 600270 OMIM
PANTHER OVOCHYMASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROCOLLAGEN C-ENDOPEPTIDASE ENHANCER 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33083 PharmGKB
PROSITE CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART C345C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CUB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49854 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50242 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D2D2 ENTREZGENE, UniProtKB/TrEMBL
  B2R9E1 ENTREZGENE
  O14550 ENTREZGENE
  PCOC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R9E1 UniProtKB/Swiss-Prot
  O14550 UniProtKB/Swiss-Prot