CPD (carboxypeptidase D) - Rat Genome Database

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Gene: CPD (carboxypeptidase D) Homo sapiens
Analyze
Symbol: CPD
Name: carboxypeptidase D
RGD ID: 731463
HGNC Page HGNC:2301
Description: Predicted to enable metallocarboxypeptidase activity. Predicted to be involved in peptide metabolic process and protein processing. Located in extracellular exosome and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GP180; metallocarboxypeptidase D
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CPDP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381730,378,927 - 30,469,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1730,378,927 - 30,469,989 (+)EnsemblGRCh38hg38GRCh38
GRCh371728,705,945 - 28,797,007 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361725,730,110 - 25,819,825 (+)NCBINCBI36Build 36hg18NCBI36
Build 341725,730,109 - 25,819,825NCBI
Celera1725,567,489 - 25,657,199 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1724,915,981 - 25,006,704 (+)NCBIHuRef
CHM1_11728,768,174 - 28,859,153 (+)NCBICHM1_1
T2T-CHM13v2.01731,323,558 - 31,414,615 (+)NCBIT2T-CHM13v2.0
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
1,1,1-trichloroethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
butanal  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chloroprene  (ISO)
choline  (ISO)
clorgyline  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dimethylarsinic acid  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
folic acid  (ISO)
FR900359  (EXP)
gamma-hexachlorocyclohexane  (ISO)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
isobutanol  (EXP)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
nitric oxide  (EXP)
ozone  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
potassium cyanide  (ISO)
procymidone  (ISO)
protein kinase inhibitor  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
succimer  (ISO)
sulforaphane  (EXP)
testosterone  (EXP,ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
tunicamycin  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)
venlafaxine hydrochloride  (ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

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:8619474   PMID:9064476   PMID:9355738   PMID:9490632   PMID:9628828   PMID:9714835   PMID:9815277   PMID:10829017   PMID:11306718   PMID:12417617   PMID:12477932   PMID:12643288  
PMID:12754519   PMID:15489334   PMID:15918796   PMID:17255364   PMID:17641957   PMID:18535109   PMID:19199708   PMID:19322201   PMID:19946888   PMID:20682791   PMID:21628999   PMID:21873635  
PMID:21988832   PMID:22268729   PMID:22354994   PMID:22902628   PMID:23246001   PMID:23589395   PMID:24337577   PMID:24433040   PMID:24615730   PMID:24639526   PMID:25294878   PMID:25437307  
PMID:25921289   PMID:26186194   PMID:26638075   PMID:27375898   PMID:27494742   PMID:27880917   PMID:28364216   PMID:28380382   PMID:28514442   PMID:28611215   PMID:28675297   PMID:28718761  
PMID:28986522   PMID:29180619   PMID:29395067   PMID:29507755   PMID:29568061   PMID:30194290   PMID:30639242   PMID:31056421   PMID:31073040   PMID:31586073   PMID:31617661   PMID:31678930  
PMID:31732153   PMID:31741433   PMID:31871319   PMID:31932471   PMID:32707033   PMID:32838362   PMID:32877691   PMID:32963011   PMID:33545068   PMID:33726789   PMID:33845483   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34369648   PMID:34373451   PMID:34432599   PMID:34597346   PMID:34702444   PMID:34709727   PMID:34857952   PMID:34882091   PMID:35241646   PMID:35271311  
PMID:35384245   PMID:35696571   PMID:35944360   PMID:36180527   PMID:36215168   PMID:36237976   PMID:36610398   PMID:36976175   PMID:38270169   PMID:38569033   PMID:39231216  


Genomics

Comparative Map Data
CPD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381730,378,927 - 30,469,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1730,378,927 - 30,469,989 (+)EnsemblGRCh38hg38GRCh38
GRCh371728,705,945 - 28,797,007 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361725,730,110 - 25,819,825 (+)NCBINCBI36Build 36hg18NCBI36
Build 341725,730,109 - 25,819,825NCBI
Celera1725,567,489 - 25,657,199 (+)NCBICelera
Cytogenetic Map17q11.2NCBI
HuRef1724,915,981 - 25,006,704 (+)NCBIHuRef
CHM1_11728,768,174 - 28,859,153 (+)NCBICHM1_1
T2T-CHM13v2.01731,323,558 - 31,414,615 (+)NCBIT2T-CHM13v2.0
Cpd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391176,668,034 - 76,737,834 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1176,669,250 - 76,737,844 (-)EnsemblGRCm39 Ensembl
GRCm381176,777,208 - 76,847,008 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1176,778,424 - 76,847,018 (-)EnsemblGRCm38mm10GRCm38
MGSCv371176,590,710 - 76,660,510 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361176,598,184 - 76,663,191 (-)NCBIMGSCv36mm8
Celera1184,282,160 - 84,345,782 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1146.05NCBI
Cpd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81062,121,681 - 62,185,638 (-)NCBIGRCr8
mRatBN7.21061,623,528 - 61,687,491 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1061,623,526 - 61,687,491 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1066,269,189 - 66,333,145 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01065,774,660 - 65,838,616 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01061,244,000 - 61,309,462 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01063,325,764 - 63,389,811 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1063,325,199 - 63,389,817 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01063,024,264 - 63,088,486 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41067,327,272 - 67,390,836 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11067,340,894 - 67,404,459 (+)NCBI
Celera1060,635,370 - 60,698,539 (-)NCBICelera
Cytogenetic Map10q24NCBI
Cpd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554812,889,156 - 2,951,495 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554812,885,243 - 2,951,574 (-)NCBIChiLan1.0ChiLan1.0
CPD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21933,983,409 - 34,070,840 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11735,864,051 - 35,951,350 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01726,302,112 - 26,389,049 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11726,821,641 - 26,908,252 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1726,821,641 - 26,908,257 (-)Ensemblpanpan1.1panPan2
CPD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1944,388,147 - 44,469,775 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl944,388,219 - 44,466,074 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha943,539,778 - 43,621,450 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0945,207,559 - 45,287,811 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl945,207,487 - 45,286,195 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1943,987,222 - 44,067,108 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0944,274,017 - 44,354,213 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0944,358,343 - 44,440,254 (+)NCBIUU_Cfam_GSD_1.0
Cpd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560243,502,080 - 43,576,174 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365386,379,999 - 6,454,122 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365386,380,046 - 6,454,117 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1246,462,265 - 46,533,022 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11246,462,203 - 46,533,032 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21248,551,808 - 48,622,822 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CPD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11624,106,406 - 24,196,998 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1624,106,883 - 24,193,129 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660755,862,697 - 5,952,891 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cpd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247862,866,059 - 2,941,879 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247862,866,020 - 2,940,615 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPD
79 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001199775.1(CPD):c.634C>T (p.Leu212Phe) single nucleotide variant Malignant melanoma [RCV000063182] Chr17:30422741 [GRCh38]
Chr17:28749759 [GRCh37]
Chr17:25773885 [NCBI36]
Chr17:17q11.2
not provided
GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1 copy number loss See cases [RCV000143027] Chr17:28947825..32490020 [GRCh38]
Chr17:27274843..30817038 [GRCh37]
Chr17:24298969..27841151 [NCBI36]
Chr17:17q11.2
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001304.5(CPD):c.2420G>T (p.Arg807Met) single nucleotide variant not specified [RCV004284019] Chr17:30443848 [GRCh38]
Chr17:28770866 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2013T>A (p.His671Gln) single nucleotide variant not specified [RCV004322867] Chr17:30427554 [GRCh38]
Chr17:28754572 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.26C>A (p.Pro9Gln) single nucleotide variant not specified [RCV004303781] Chr17:30379006 [GRCh38]
Chr17:28706024 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2762G>A (p.Arg921His) single nucleotide variant not specified [RCV004330697] Chr17:30445909 [GRCh38]
Chr17:28772927 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2342A>G (p.Asn781Ser) single nucleotide variant not specified [RCV004302976] Chr17:30442419 [GRCh38]
Chr17:28769437 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1 copy number loss Mitogen-activated protein kinase kinase inhibitor response [RCV000626439] Chr17:25248166..30645676 [GRCh37]
Chr17:17q11.1-11.2
drug response
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_001304.5(CPD):c.13C>A (p.Arg5=) single nucleotide variant not provided [RCV000959380] Chr17:30378993 [GRCh38]
Chr17:28706011 [GRCh37]
Chr17:17q11.2
benign
NM_001304.5(CPD):c.1496A>G (p.Lys499Arg) single nucleotide variant not provided [RCV000949598] Chr17:30422862 [GRCh38]
Chr17:28749880 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
NM_001304.5(CPD):c.1150G>A (p.Val384Met) single nucleotide variant not specified [RCV004319773] Chr17:30421676 [GRCh38]
Chr17:28748694 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2031T>G (p.Val677=) single nucleotide variant not provided [RCV000974133] Chr17:30431785 [GRCh38]
Chr17:28758803 [GRCh37]
Chr17:17q11.2
benign
NM_001304.5(CPD):c.2696C>T (p.Thr899Ile) single nucleotide variant not provided [RCV000915269] Chr17:30445843 [GRCh38]
Chr17:28772861 [GRCh37]
Chr17:17q11.2
benign
NM_001304.5(CPD):c.3051G>C (p.Lys1017Asn) single nucleotide variant not specified [RCV004610981] Chr17:30449730 [GRCh38]
Chr17:28776748 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_27573882)_(29576157_?)del deletion Neurofibromatosis, type 1 [RCV003109263] Chr17:27573882..29576157 [GRCh37]
Chr17:17q11.2
pathogenic
NC_000017.10:g.(?_26684694)_(29701173_?)dup duplication not provided [RCV003123018] Chr17:26684694..29701173 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.470C>T (p.Ala157Val) single nucleotide variant not specified [RCV004312877] Chr17:30379450 [GRCh38]
Chr17:28706468 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3575G>T (p.Arg1192Leu) single nucleotide variant not specified [RCV004312709] Chr17:30461256 [GRCh38]
Chr17:28788274 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.685C>G (p.Pro229Ala) single nucleotide variant not specified [RCV004314782] Chr17:30379665 [GRCh38]
Chr17:28706683 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.88C>T (p.Arg30Trp) single nucleotide variant not specified [RCV004296760] Chr17:30379068 [GRCh38]
Chr17:28706086 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.460C>T (p.Arg154Cys) single nucleotide variant not specified [RCV004238224] Chr17:30379440 [GRCh38]
Chr17:28706458 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3469G>C (p.Glu1157Gln) single nucleotide variant not specified [RCV004085435] Chr17:30456497 [GRCh38]
Chr17:28783515 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2761C>T (p.Arg921Cys) single nucleotide variant not specified [RCV004115502] Chr17:30445908 [GRCh38]
Chr17:28772926 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.4063T>C (p.Ser1355Pro) single nucleotide variant not specified [RCV004133137] Chr17:30464734 [GRCh38]
Chr17:28791752 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1678A>C (p.Ile560Leu) single nucleotide variant not specified [RCV004116073] Chr17:30423526 [GRCh38]
Chr17:28750544 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2741G>C (p.Gly914Ala) single nucleotide variant not specified [RCV004136052] Chr17:30445888 [GRCh38]
Chr17:28772906 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.951C>G (p.Phe317Leu) single nucleotide variant not specified [RCV004228010] Chr17:30385193 [GRCh38]
Chr17:28712211 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3874C>T (p.Arg1292Trp) single nucleotide variant not specified [RCV004160584] Chr17:30462427 [GRCh38]
Chr17:28789445 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.685C>T (p.Pro229Ser) single nucleotide variant not specified [RCV004078356] Chr17:30379665 [GRCh38]
Chr17:28706683 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.355C>G (p.Pro119Ala) single nucleotide variant not specified [RCV004157670] Chr17:30379335 [GRCh38]
Chr17:28706353 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2192A>G (p.His731Arg) single nucleotide variant not specified [RCV004227432] Chr17:30439039 [GRCh38]
Chr17:28766057 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.370C>T (p.Pro124Ser) single nucleotide variant not specified [RCV004117463] Chr17:30379350 [GRCh38]
Chr17:28706368 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3875G>A (p.Arg1292Gln) single nucleotide variant not specified [RCV004184602] Chr17:30462428 [GRCh38]
Chr17:28789446 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3703A>G (p.Asn1235Asp) single nucleotide variant not specified [RCV004118786] Chr17:30461949 [GRCh38]
Chr17:28788967 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.233G>T (p.Gly78Val) single nucleotide variant not specified [RCV004137917] Chr17:30379213 [GRCh38]
Chr17:28706231 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.4007G>A (p.Arg1336Gln) single nucleotide variant not specified [RCV004110099] Chr17:30464678 [GRCh38]
Chr17:28791696 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2290G>T (p.Gly764Cys) single nucleotide variant not specified [RCV004129435] Chr17:30442367 [GRCh38]
Chr17:28769385 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3985A>G (p.Arg1329Gly) single nucleotide variant not specified [RCV004167385] Chr17:30464656 [GRCh38]
Chr17:28791674 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.497G>T (p.Arg166Leu) single nucleotide variant not specified [RCV004146589] Chr17:30379477 [GRCh38]
Chr17:28706495 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.227T>G (p.Leu76Arg) single nucleotide variant not specified [RCV004241553] Chr17:30379207 [GRCh38]
Chr17:28706225 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1943C>T (p.Thr648Met) single nucleotide variant not specified [RCV004231524] Chr17:30427484 [GRCh38]
Chr17:28754502 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.137C>T (p.Ala46Val) single nucleotide variant not specified [RCV004150380] Chr17:30379117 [GRCh38]
Chr17:28706135 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1924G>T (p.Val642Phe) single nucleotide variant not specified [RCV004146485] Chr17:30427465 [GRCh38]
Chr17:28754483 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3239T>C (p.Ile1080Thr) single nucleotide variant not specified [RCV004106462] Chr17:30455372 [GRCh38]
Chr17:28782390 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.4096G>A (p.Asp1366Asn) single nucleotide variant not specified [RCV004126927] Chr17:30464767 [GRCh38]
Chr17:28791785 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2126A>G (p.Lys709Arg) single nucleotide variant not specified [RCV004156823] Chr17:30431880 [GRCh38]
Chr17:28758898 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1277G>A (p.Gly426Glu) single nucleotide variant not specified [RCV004108548] Chr17:30421803 [GRCh38]
Chr17:28748821 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2693C>T (p.Thr898Ile) single nucleotide variant not specified [RCV004203289] Chr17:30445840 [GRCh38]
Chr17:28772858 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3479G>A (p.Ser1160Asn) single nucleotide variant not specified [RCV004152640] Chr17:30456507 [GRCh38]
Chr17:28783525 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.170G>C (p.Arg57Pro) single nucleotide variant not specified [RCV004148072] Chr17:30379150 [GRCh38]
Chr17:28706168 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3973A>G (p.Ile1325Val) single nucleotide variant not specified [RCV004116074] Chr17:30464644 [GRCh38]
Chr17:28791662 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1424C>T (p.Ser475Leu) single nucleotide variant not specified [RCV004208133] Chr17:30422790 [GRCh38]
Chr17:28749808 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2971G>T (p.Ala991Ser) single nucleotide variant not specified [RCV004208811] Chr17:30449650 [GRCh38]
Chr17:28776668 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1172C>T (p.Ser391Phe) single nucleotide variant not specified [RCV004086470] Chr17:30421698 [GRCh38]
Chr17:28748716 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2933A>G (p.Asn978Ser) single nucleotide variant not specified [RCV004330762] Chr17:30449612 [GRCh38]
Chr17:28776630 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.18C>G (p.Asp6Glu) single nucleotide variant not specified [RCV004250356] Chr17:30378998 [GRCh38]
Chr17:28706016 [GRCh37]
Chr17:17q11.2
likely benign
NM_001304.5(CPD):c.515A>G (p.Asn172Ser) single nucleotide variant not specified [RCV004267488] Chr17:30379495 [GRCh38]
Chr17:28706513 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.515A>C (p.Asn172Thr) single nucleotide variant not specified [RCV004275737] Chr17:30379495 [GRCh38]
Chr17:28706513 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.618C>G (p.Ser206Arg) single nucleotide variant not specified [RCV004260189] Chr17:30379598 [GRCh38]
Chr17:28706616 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1486A>G (p.Ile496Val) single nucleotide variant not specified [RCV004252937] Chr17:30422852 [GRCh38]
Chr17:28749870 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2636A>G (p.Asn879Ser) single nucleotide variant not specified [RCV004266516] Chr17:30445783 [GRCh38]
Chr17:28772801 [GRCh37]
Chr17:17q11.2
likely benign
NM_001304.5(CPD):c.2615G>A (p.Arg872Gln) single nucleotide variant not specified [RCV004280581] Chr17:30445762 [GRCh38]
Chr17:28772780 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2215T>C (p.Trp739Arg) single nucleotide variant not specified [RCV004276574] Chr17:30439062 [GRCh38]
Chr17:28766080 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.685C>A (p.Pro229Thr) single nucleotide variant not specified [RCV004339183] Chr17:30379665 [GRCh38]
Chr17:28706683 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1225C>T (p.His409Tyr) single nucleotide variant not specified [RCV004365525] Chr17:30421751 [GRCh38]
Chr17:28748769 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1 copy number loss not provided [RCV003483317] Chr17:28387597..30812008 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001304.5(CPD):c.1380G>A (p.Arg460=) single nucleotide variant not provided [RCV003413192] Chr17:30422746 [GRCh38]
Chr17:28749764 [GRCh37]
Chr17:17q11.2
likely benign
GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1 copy number loss not specified [RCV003987216] Chr17:28277040..30903559 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001304.5(CPD):c.1229A>G (p.Asn410Ser) single nucleotide variant not specified [RCV004372398] Chr17:30421755 [GRCh38]
Chr17:28748773 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1553A>G (p.Asn518Ser) single nucleotide variant not specified [RCV004372401] Chr17:30422919 [GRCh38]
Chr17:28749937 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2624C>T (p.Thr875Ile) single nucleotide variant not specified [RCV004372402] Chr17:30445771 [GRCh38]
Chr17:28772789 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2950G>A (p.Glu984Lys) single nucleotide variant not specified [RCV004372403] Chr17:30449629 [GRCh38]
Chr17:28776647 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3283T>A (p.Leu1095Ile) single nucleotide variant not specified [RCV004372406] Chr17:30455416 [GRCh38]
Chr17:28782434 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3992A>G (p.Lys1331Arg) single nucleotide variant not specified [RCV004372409] Chr17:30464663 [GRCh38]
Chr17:28791681 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.623G>C (p.Arg208Pro) single nucleotide variant not specified [RCV004374388] Chr17:30379603 [GRCh38]
Chr17:28706621 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.3664A>G (p.Lys1222Glu) single nucleotide variant not specified [RCV004372408] Chr17:30461910 [GRCh38]
Chr17:28788928 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.899C>G (p.Pro300Arg) single nucleotide variant not specified [RCV004374389] Chr17:30385141 [GRCh38]
Chr17:28712159 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.412A>G (p.Met138Val) single nucleotide variant not specified [RCV004372411] Chr17:30379392 [GRCh38]
Chr17:28706410 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.2962C>T (p.Arg988Cys) single nucleotide variant not specified [RCV004372404] Chr17:30449641 [GRCh38]
Chr17:28776659 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.901A>G (p.Ile301Val) single nucleotide variant not specified [RCV004374390] Chr17:30385143 [GRCh38]
Chr17:28712161 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1247T>G (p.Phe416Cys) single nucleotide variant not specified [RCV004372399] Chr17:30421773 [GRCh38]
Chr17:28748791 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1477T>C (p.Tyr493His) single nucleotide variant not specified [RCV004372400] Chr17:30422843 [GRCh38]
Chr17:28749861 [GRCh37]
Chr17:17q11.2
likely benign
NM_001304.5(CPD):c.3055C>T (p.Pro1019Ser) single nucleotide variant not specified [RCV004372405] Chr17:30449734 [GRCh38]
Chr17:28776752 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.4019A>G (p.His1340Arg) single nucleotide variant not specified [RCV004372410] Chr17:30464690 [GRCh38]
Chr17:28791708 [GRCh37]
Chr17:17q11.2
uncertain significance
NC_000017.10:g.(?_28524804)_(29624377_?)del deletion Neurofibromatosis, type 1 [RCV004579908] Chr17:28524804..29624377 [GRCh37]
Chr17:17q11.2
pathogenic
NM_001304.5(CPD):c.2606C>G (p.Thr869Arg) single nucleotide variant not specified [RCV004610980] Chr17:30445753 [GRCh38]
Chr17:28772771 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001304.5(CPD):c.1604C>T (p.Ser535Leu) single nucleotide variant not specified [RCV004610979] Chr17:30422970 [GRCh38]
Chr17:28749988 [GRCh37]
Chr17:17q11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2890
Count of miRNA genes:1153
Interacting mature miRNAs:1451
Transcripts:ENST00000225719, ENST00000543464, ENST00000579502, ENST00000580396, ENST00000581826, ENST00000583275, ENST00000584050, ENST00000584051, ENST00000584221, ENST00000588977
Prediction methods: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
407137590GWAS786566_Hrespiratory failure, COVID-19 QTL GWAS786566 (human)0.0000009respiratory failure, COVID-19173040908630409087Human
407125495GWAS774471_Hsexual dimorphism measurement QTL GWAS774471 (human)9e-09sexual dimorphism measurement173045477430454775Human
407331508GWAS980484_Hhigh density lipoprotein cholesterol measurement QTL GWAS980484 (human)9e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)173045477430454775Human
407291714GWAS940690_Hbody height QTL GWAS940690 (human)0.000009body height (VT:0001253)body height (CMO:0000106)173039372330393724Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
406944073GWAS593049_HBMI-adjusted waist-hip ratio QTL GWAS593049 (human)6e-10BMI-adjusted waist-hip ratio173042224230422243Human
407119500GWAS768476_Hsexual dimorphism measurement QTL GWAS768476 (human)3e-10sexual dimorphism measurement173045351530453516Human
406935099GWAS584075_Hhigh density lipoprotein cholesterol measurement QTL GWAS584075 (human)4e-13high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)173045477430454775Human
407102911GWAS751887_Hmathematical ability QTL GWAS751887 (human)5e-08mathematical ability173039372330393724Human
407111944GWAS760920_Hbody height QTL GWAS760920 (human)1e-11body height (VT:0001253)body height (CMO:0000106)173041724430417245Human
407313610GWAS962586_Hhigh density lipoprotein cholesterol measurement QTL GWAS962586 (human)3e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)173045477430454775Human
406927390GWAS576366_Hbody height QTL GWAS576366 (human)1e-08body height (VT:0001253)body height (CMO:0000106)173040908630409087Human

Markers in Region
D17S2009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,792,167 - 28,792,296UniSTSGRCh37
Build 361725,816,293 - 25,816,422RGDNCBI36
Celera1725,653,667 - 25,653,796RGD
Cytogenetic Map17q11.2UniSTS
HuRef1725,002,196 - 25,002,325UniSTS
Whitehead-YAC Contig Map17 UniSTS
RH11489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,793,259 - 28,793,408UniSTSGRCh37
Build 361725,817,385 - 25,817,534RGDNCBI36
Celera1725,654,759 - 25,654,908RGD
Cytogenetic Map17q11.2UniSTS
HuRef1725,003,288 - 25,003,437UniSTS
RH47227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,794,504 - 28,794,652UniSTSGRCh37
Build 361725,818,630 - 25,818,778RGDNCBI36
Celera1725,656,004 - 25,656,152RGD
Cytogenetic Map17q11.2UniSTS
HuRef1725,004,533 - 25,004,681UniSTS
RH104247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,761,839 - 28,762,011UniSTSGRCh37
Build 361725,785,965 - 25,786,137RGDNCBI36
Celera1725,623,333 - 25,623,505RGD
Cytogenetic Map17q11.2UniSTS
HuRef1724,971,865 - 24,972,037UniSTS
STS-H01467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,795,512 - 28,795,641UniSTSGRCh37
GRCh378124,561,401 - 124,562,606UniSTSGRCh37
Build 361725,819,638 - 25,819,767RGDNCBI36
Celera8120,749,058 - 120,750,262UniSTS
Celera1725,657,012 - 25,657,141RGD
Cytogenetic Map17q11.2UniSTS
HuRef1725,005,541 - 25,005,670UniSTS
HuRef8119,887,001 - 119,888,205UniSTS
GeneMap99-GB4 RH Map17271.89UniSTS
CPD_1887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,794,964 - 28,795,775UniSTSGRCh37
Build 361725,819,090 - 25,819,901RGDNCBI36
Celera1725,656,464 - 25,657,275RGD
HuRef1725,004,993 - 25,005,804UniSTS
A001U18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,794,494 - 28,794,613UniSTSGRCh37
Build 361725,818,620 - 25,818,739RGDNCBI36
Celera1725,655,994 - 25,656,113RGD
Cytogenetic Map17q11.2UniSTS
HuRef1725,004,523 - 25,004,642UniSTS
GeneMap99-GB4 RH Map17271.56UniSTS
D17S962E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,762,738 - 28,762,884UniSTSGRCh37
Build 361725,786,864 - 25,787,010RGDNCBI36
Celera1725,624,232 - 25,624,378RGD
HuRef1724,972,764 - 24,972,910UniSTS
D17S2004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371728,794,073 - 28,794,179UniSTSGRCh37
Build 361725,818,199 - 25,818,305RGDNCBI36
Celera1725,655,573 - 25,655,679RGD
Cytogenetic Map17q11.2UniSTS
HuRef1725,004,102 - 25,004,208UniSTS
Whitehead-YAC Contig Map17 UniSTS
MARC_23481-23482:1027350718:1  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1724,999,050 - 24,999,489UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC045624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA436219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D85390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U90914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000225719   ⟹   ENSP00000225719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,378,927 - 30,469,989 (+)Ensembl
Ensembl Acc Id: ENST00000543464   ⟹   ENSP00000444443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,380,236 - 30,465,017 (+)Ensembl
Ensembl Acc Id: ENST00000579502   ⟹   ENSP00000464255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,451,810 - 30,464,947 (+)Ensembl
Ensembl Acc Id: ENST00000580396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,454,021 - 30,456,863 (+)Ensembl
Ensembl Acc Id: ENST00000581826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,438,985 - 30,444,144 (+)Ensembl
Ensembl Acc Id: ENST00000583275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,379,616 - 30,385,292 (+)Ensembl
Ensembl Acc Id: ENST00000584050   ⟹   ENSP00000466049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,449,673 - 30,456,351 (+)Ensembl
Ensembl Acc Id: ENST00000584051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,450,236 - 30,461,266 (+)Ensembl
Ensembl Acc Id: ENST00000584221   ⟹   ENSP00000463763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,443,802 - 30,466,423 (+)Ensembl
Ensembl Acc Id: ENST00000588977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1730,445,691 - 30,451,737 (+)Ensembl
RefSeq Acc Id: NM_001199775   ⟹   NP_001186704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381730,380,478 - 30,469,657 (+)NCBI
GRCh371728,705,942 - 28,796,675 (+)ENTREZGENE
HuRef1724,915,981 - 25,006,704 (+)ENTREZGENE
CHM1_11728,769,728 - 28,859,153 (+)NCBI
T2T-CHM13v2.01731,325,109 - 31,414,283 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001304   ⟹   NP_001295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381730,378,927 - 30,469,989 (+)NCBI
GRCh371728,705,942 - 28,796,675 (+)ENTREZGENE
Build 361725,730,110 - 25,819,825 (+)NCBI Archive
HuRef1724,915,981 - 25,006,704 (+)ENTREZGENE
CHM1_11728,768,174 - 28,859,153 (+)NCBI
T2T-CHM13v2.01731,323,558 - 31,414,615 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001295   ⟸   NM_001304
- Peptide Label: isoform 1 precursor
- UniProtKB: Q86SH9 (UniProtKB/Swiss-Prot),   O15377 (UniProtKB/Swiss-Prot),   F5GZH6 (UniProtKB/Swiss-Prot),   B7ZAU4 (UniProtKB/Swiss-Prot),   B7Z7T9 (UniProtKB/Swiss-Prot),   Q86XE6 (UniProtKB/Swiss-Prot),   O75976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186704   ⟸   NM_001199775
- Peptide Label: isoform 2
- UniProtKB: O75976 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000444443   ⟸   ENST00000543464
Ensembl Acc Id: ENSP00000463763   ⟸   ENST00000584221
Ensembl Acc Id: ENSP00000466049   ⟸   ENST00000584050
Ensembl Acc Id: ENSP00000464255   ⟸   ENST00000579502
Ensembl Acc Id: ENSP00000225719   ⟸   ENST00000225719
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75976-F1-model_v2 AlphaFold O75976 1-1380 view protein structure

Promoters
RGD ID:6793890
Promoter ID:HG_KWN:25653
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256214
Position:
Human AssemblyChrPosition (strand)Source
Build 361725,729,879 - 25,730,379 (+)MPROMDB
RGD ID:7234509
Promoter ID:EPDNEW_H23001
Type:initiation region
Name:CPD_1
Description:carboxypeptidase D
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
GRCh381730,378,936 - 30,378,996EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2301 AgrOrtholog
COSMIC CPD COSMIC
Ensembl Genes ENSG00000108582 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225719 ENTREZGENE
  ENST00000225719.9 UniProtKB/Swiss-Prot
  ENST00000543464 ENTREZGENE
  ENST00000543464.6 UniProtKB/Swiss-Prot
  ENST00000579502.1 UniProtKB/TrEMBL
  ENST00000584050.6 UniProtKB/TrEMBL
  ENST00000584221.2 UniProtKB/TrEMBL
Gene3D-CATH Carboxypeptidase-like, regulatory domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108582 GTEx
HGNC ID HGNC:2301 ENTREZGENE
Human Proteome Map CPD Human Proteome Map
InterPro CarboxyPept-like_regulatory UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M14_CPD_II UniProtKB/Swiss-Prot
  M14_CPD_III UniProtKB/Swiss-Prot
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1362 UniProtKB/Swiss-Prot
NCBI Gene 1362 ENTREZGENE
OMIM 603102 OMIM
PANTHER PROTEASE M14 CARBOXYPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11532:SF73 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CarboxypepD_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26823 PharmGKB
PRINTS CRBOXYPTASEA UniProtKB/Swiss-Prot
PROSITE CARBOXYPEPT_ZN_1 UniProtKB/Swiss-Prot
  CARBOXYPEPT_ZN_2 UniProtKB/Swiss-Prot
  PEPTIDASE_M14 UniProtKB/Swiss-Prot
SMART Zn_pept UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49464 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z7T9 ENTREZGENE
  B7ZAU4 ENTREZGENE
  CBPD_HUMAN UniProtKB/Swiss-Prot
  F5GZH6 ENTREZGENE
  J3QQJ4_HUMAN UniProtKB/TrEMBL
  J3QRJ9_HUMAN UniProtKB/TrEMBL
  K7ELF0_HUMAN UniProtKB/TrEMBL
  O15377 ENTREZGENE
  O75976 ENTREZGENE
  Q86SH9 ENTREZGENE
  Q86XE6 ENTREZGENE
UniProt Secondary B7Z7T9 UniProtKB/Swiss-Prot
  B7ZAU4 UniProtKB/Swiss-Prot
  F5GZH6 UniProtKB/Swiss-Prot
  O15377 UniProtKB/Swiss-Prot
  Q86SH9 UniProtKB/Swiss-Prot
  Q86XE6 UniProtKB/Swiss-Prot