CPZ (carboxypeptidase Z) - Rat Genome Database

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Gene: CPZ (carboxypeptidase Z) Homo sapiens
Analyze
Symbol: CPZ
Name: carboxypeptidase Z
RGD ID: 731300
HGNC Page HGNC:2333
Description: Predicted to enable metallocarboxypeptidase activity. Predicted to be involved in peptide metabolic process and protein processing. Predicted to be located in extracellular region. Predicted to be active in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: metallocarboxypeptidase Z; MGC99682; VEZT/CPZ fusion
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
GRCh3848,592,765 - 8,619,752 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl48,592,660 - 8,619,759 (+)EnsemblGRCh38hg38GRCh38
GRCh3748,594,492 - 8,621,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3648,645,335 - 8,672,388 (+)NCBINCBI36Build 36hg18NCBI36
Build 3448,712,592 - 8,739,547NCBI
Celera48,487,239 - 8,514,366 (+)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef48,513,792 - 8,540,980 (+)NCBIHuRef
CHM1_148,592,625 - 8,619,813 (+)NCBICHM1_1
T2T-CHM13v2.048,572,626 - 8,599,700 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Dwarfism  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
Aflatoxin B2 alpha  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
clotrimazole  (ISO)
Cuprizon  (ISO)
cytarabine  (EXP)
dexamethasone  (EXP)
diiodine  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
graphite  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
malathion  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
mifepristone  (EXP)
Mono-carboxy isooctyl phthalate  (EXP)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
pioglitazone  (ISO)
progesterone  (EXP,ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetradecane  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
valproic 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
Short stature  (IAGP)
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:9099699   PMID:10080937   PMID:10671522   PMID:10737800   PMID:11766880   PMID:12417617   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15489335   PMID:16344560   PMID:20379614  
PMID:21873635   PMID:23376485   PMID:26186194   PMID:28514442   PMID:28545128   PMID:29653227   PMID:30824926   PMID:33217972   PMID:33961781  


Genomics

Comparative Map Data
CPZ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3848,592,765 - 8,619,752 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl48,592,660 - 8,619,759 (+)EnsemblGRCh38hg38GRCh38
GRCh3748,594,492 - 8,621,479 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3648,645,335 - 8,672,388 (+)NCBINCBI36Build 36hg18NCBI36
Build 3448,712,592 - 8,739,547NCBI
Celera48,487,239 - 8,514,366 (+)NCBICelera
Cytogenetic Map4p16.1NCBI
HuRef48,513,792 - 8,540,980 (+)NCBIHuRef
CHM1_148,592,625 - 8,619,813 (+)NCBICHM1_1
T2T-CHM13v2.048,572,626 - 8,599,700 (+)NCBIT2T-CHM13v2.0
Cpz
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39535,659,562 - 35,682,970 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl535,659,562 - 35,683,042 (-)EnsemblGRCm39 Ensembl
GRCm38535,502,218 - 35,525,626 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl535,502,218 - 35,525,698 (-)EnsemblGRCm38mm10GRCm38
MGSCv37535,844,867 - 35,868,275 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36535,819,196 - 35,842,396 (-)NCBIMGSCv36mm8
Celera532,977,576 - 33,000,943 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map518.16NCBI
Cpz
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81479,448,242 - 79,471,557 (+)NCBIGRCr8
mRatBN7.21475,223,692 - 75,246,946 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1475,223,605 - 75,246,945 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1479,677,279 - 79,700,523 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01480,918,147 - 80,941,395 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01477,363,131 - 77,386,387 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01480,402,946 - 80,426,203 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1480,403,001 - 80,426,245 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01480,028,890 - 80,052,296 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41480,857,371 - 80,880,592 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11480,859,761 - 80,882,982 (+)NCBI
Celera1474,152,116 - 74,175,339 (+)NCBICelera
Cytogenetic Map14q21NCBI
Cpz
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555142,572,173 - 2,586,038 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555142,572,075 - 2,590,274 (-)NCBIChiLan1.0ChiLan1.0
CPZ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v238,878,662 - 8,907,200 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan148,806,093 - 8,835,503 (+)NCBINHGRI_mPanPan1
PanPan1.148,623,879 - 8,684,722 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl48,656,029 - 8,684,722 (+)Ensemblpanpan1.1panPan2
CPZ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1360,291,704 - 60,312,551 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl360,297,752 - 60,312,598 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha362,942,106 - 62,964,158 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0360,767,264 - 60,789,341 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl360,772,327 - 60,789,341 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1360,261,876 - 60,283,927 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0360,466,687 - 60,488,752 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0360,822,705 - 60,844,819 (+)NCBIUU_Cfam_GSD_1.0
Cpz
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528566,100,353 - 66,123,380 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647719,801,698 - 19,825,256 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647719,792,738 - 19,825,066 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPZ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl82,620,768 - 2,642,524 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.182,620,765 - 2,642,524 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CPZ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12744,516,632 - 44,546,475 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2744,516,800 - 44,546,337 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666051842,345 - 872,472 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cpz
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475524,075,939 - 24,088,088 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475524,069,650 - 24,088,180 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPZ
152 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.2-16.1(chr4:5455628-10640216)x1 copy number loss See cases [RCV000053262] Chr4:5455628..10640216 [GRCh38]
Chr4:5457355..10641840 [GRCh37]
Chr4:5508256..10250938 [NCBI36]
Chr4:4p16.2-16.1		 pathogenic
CPZ:c.550C>T single nucleotide variant Malignant melanoma [RCV000066558] Chr4:8604029 [GRCh38]
Chr4:8605756 [GRCh37]
Chr4:8656656 [NCBI36]
Chr4:4p16.1		 not provided
NM_001014447.3(CPZ):c.751G>A (p.Glu251Lys) single nucleotide variant not specified [RCV004167146] Chr4:8606030 [GRCh38]
Chr4:8607757 [GRCh37]
Chr4:8658657 [NCBI36]
Chr4:4p16.1		 uncertain significance|not provided
CPZ:c.1767G>A single nucleotide variant Malignant melanoma [RCV000066560] Chr4:8619425 [GRCh38]
Chr4:8621152 [GRCh37]
Chr4:8672052 [NCBI36]
Chr4:4p16.1		 not provided
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.1(chr4:8414872-10011846)x3 copy number gain See cases [RCV000137908] Chr4:8414872..10011846 [GRCh38]
Chr4:8416599..10013470 [GRCh37]
Chr4:8467499..9622568 [NCBI36]
Chr4:4p16.1		 likely benign
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.1(chr4:8606112-9556518)x3 copy number gain See cases [RCV000142813] Chr4:8606112..9556518 [GRCh38]
Chr4:8607839..9558139 [GRCh37]
Chr4:8658739..9167237 [NCBI36]
Chr4:4p16.1		 likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NC_000004.12:g.8398067_17505522inv inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.1(chr4:8199982-8731855)x3 copy number gain See cases [RCV000512078] Chr4:8199982..8731855 [GRCh37]
Chr4:4p16.1		 likely benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_001014447.3(CPZ):c.1219G>A (p.Asp407Asn) single nucleotide variant not specified [RCV004311309] Chr4:8607417 [GRCh38]
Chr4:8609144 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.841A>T (p.Asn281Tyr) single nucleotide variant not specified [RCV004314227] Chr4:8606120 [GRCh38]
Chr4:8607847 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1277T>G (p.Met426Arg) single nucleotide variant not specified [RCV004314298] Chr4:8612076 [GRCh38]
Chr4:8613803 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.1(chr4:8530221-8609785)x1 copy number loss not provided [RCV000682382] Chr4:8530221..8609785 [GRCh37]
Chr4:4p16.1		 likely benign|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp) single nucleotide variant Short stature [RCV000736116] Chr4:8601494 [GRCh38]
Chr4:8603221 [GRCh37]
Chr4:4p16.1		 likely pathogenic
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp) single nucleotide variant Short stature [RCV000736117] Chr4:8612120 [GRCh38]
Chr4:8613847 [GRCh37]
Chr4:4p16.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.1(chr4:8621386-8631465)x1 copy number loss not provided [RCV000743301] Chr4:8621386..8631465 [GRCh37]
Chr4:4p16.1		 benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001014447.3(CPZ):c.746G>T (p.Gly249Val) single nucleotide variant not specified [RCV004295713] Chr4:8606025 [GRCh38]
Chr4:8607752 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1365C>A (p.Gly455=) single nucleotide variant not provided [RCV000923950] Chr4:8614360 [GRCh38]
Chr4:8616087 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1941C>G (p.Arg647=) single nucleotide variant CPZ-related disorder [RCV003960428]|not provided [RCV000923951] Chr4:8619599 [GRCh38]
Chr4:8621326 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.788A>G (p.Gln263Arg) single nucleotide variant CPZ-related disorder [RCV003940426]|not provided [RCV000881005] Chr4:8606067 [GRCh38]
Chr4:8607794 [GRCh37]
Chr4:4p16.1		 benign
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32		 likely pathogenic
NC_000004.11:g.(?_8613754)_(8873340_?)del deletion not provided [RCV001032181] Chr4:8613754..8873340 [GRCh37]
Chr4:4p16.1		 pathogenic
NM_001014447.3(CPZ):c.1885G>A (p.Gly629Arg) single nucleotide variant not provided [RCV000897496] Chr4:8619543 [GRCh38]
Chr4:8621270 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1842G>A (p.Thr614=) single nucleotide variant not provided [RCV000899952] Chr4:8619500 [GRCh38]
Chr4:8621227 [GRCh37]
Chr4:4p16.1		 likely benign
GRCh37/hg19 4p16.1(chr4:7336953-8620214)x3 copy number gain not provided [RCV000846952] Chr4:7336953..8620214 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1 copy number loss not provided [RCV000845896] Chr4:3374195..13468480 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001014447.3(CPZ):c.1068+9C>T single nucleotide variant not provided [RCV001666355] Chr4:8606907 [GRCh38]
Chr4:8606907..8606908 [GRCh38]
Chr4:8608634 [GRCh37]
Chr4:8608634..8608635 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1566G>T (p.Arg522=) single nucleotide variant CPZ-related disorder [RCV003916165]|not provided [RCV000964847] Chr4:8618491 [GRCh38]
Chr4:8620218 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1604-8G>T single nucleotide variant CPZ-related disorder [RCV003916166]|not provided [RCV000964848] Chr4:8619254 [GRCh38]
Chr4:8620981 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1854G>A (p.Pro618=) single nucleotide variant CPZ-related disorder [RCV003978297]|not provided [RCV000956180] Chr4:8619512 [GRCh38]
Chr4:8621239 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.675C>G (p.Ile225Met) single nucleotide variant not provided [RCV000956178] Chr4:8604154 [GRCh38]
Chr4:8605881 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.750C>T (p.Asn250=) single nucleotide variant CPZ-related disorder [RCV003983303]|not provided [RCV000956179] Chr4:8606029 [GRCh38]
Chr4:8607756 [GRCh37]
Chr4:4p16.1		 benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.1(chr4:8367623-8609785)x3 copy number gain not provided [RCV001834141] Chr4:8367623..8609785 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.949C>T (p.Gln317Ter) single nucleotide variant not provided [RCV001811927] Chr4:8606779 [GRCh38]
Chr4:8608506 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.1(chr4:7792998-8731855)x3 copy number gain not provided [RCV001832971] Chr4:7792998..8731855 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.1(chr4:8265830-8731855)x3 copy number gain not provided [RCV001833064] Chr4:8265830..8731855 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001014447.3(CPZ):c.1319G>C (p.Arg440Thr) single nucleotide variant not specified [RCV004076134] Chr4:8612118 [GRCh38]
Chr4:8613845 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.1(chr4:8234755-8731855)x3 copy number gain not provided [RCV002474653] Chr4:8234755..8731855 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001014447.3(CPZ):c.1543G>A (p.Gly515Ser) single nucleotide variant not specified [RCV004187129] Chr4:8618468 [GRCh38]
Chr4:8620195 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.851G>A (p.Arg284His) single nucleotide variant not specified [RCV004239790] Chr4:8606130 [GRCh38]
Chr4:8607857 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1544G>A (p.Gly515Asp) single nucleotide variant not specified [RCV004199390] Chr4:8618469 [GRCh38]
Chr4:8620196 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1808C>T (p.Pro603Leu) single nucleotide variant not specified [RCV004233205] Chr4:8619466 [GRCh38]
Chr4:8621193 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1586G>A (p.Arg529His) single nucleotide variant not specified [RCV004202723] Chr4:8618511 [GRCh38]
Chr4:8620238 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.317C>T (p.Ala106Val) single nucleotide variant not specified [RCV004235546] Chr4:8601318 [GRCh38]
Chr4:8603045 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.718G>A (p.Glu240Lys) single nucleotide variant not specified [RCV004133794] Chr4:8605997 [GRCh38]
Chr4:8607724 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1304G>T (p.Gly435Val) single nucleotide variant not specified [RCV004122520] Chr4:8612103 [GRCh38]
Chr4:8613830 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1199A>T (p.Lys400Met) single nucleotide variant not specified [RCV004200758] Chr4:8607397 [GRCh38]
Chr4:8609124 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1813G>C (p.Gly605Arg) single nucleotide variant not specified [RCV004097403] Chr4:8619471 [GRCh38]
Chr4:8621198 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.580G>A (p.Val194Met) single nucleotide variant not specified [RCV004161859] Chr4:8604059 [GRCh38]
Chr4:8605786 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1675G>A (p.Ala559Thr) single nucleotide variant not specified [RCV004162462] Chr4:8619333 [GRCh38]
Chr4:8621060 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1474_1476del (p.Lys492del) deletion not provided [RCV002866806] Chr4:8614469..8614471 [GRCh38]
Chr4:8616196..8616198 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.823C>T (p.Arg275Cys) single nucleotide variant not specified [RCV004182309] Chr4:8606102 [GRCh38]
Chr4:8607829 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1439C>A (p.Pro480His) single nucleotide variant not specified [RCV004172137] Chr4:8614434 [GRCh38]
Chr4:8616161 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1767G>C (p.Lys589Asn) single nucleotide variant not specified [RCV004164583] Chr4:8619425 [GRCh38]
Chr4:8621152 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.571G>A (p.Ala191Thr) single nucleotide variant not specified [RCV004240495] Chr4:8604050 [GRCh38]
Chr4:8605777 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.107C>T (p.Pro36Leu) single nucleotide variant not specified [RCV004195564] Chr4:8599471 [GRCh38]
Chr4:8601198 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1738A>G (p.Ile580Val) single nucleotide variant not specified [RCV004073073] Chr4:8619396 [GRCh38]
Chr4:8621123 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.551G>A (p.Arg184His) single nucleotide variant not specified [RCV004195565] Chr4:8604030 [GRCh38]
Chr4:8605757 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.652G>A (p.Asp218Asn) single nucleotide variant not specified [RCV004112375] Chr4:8604131 [GRCh38]
Chr4:8605858 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.202C>T (p.Arg68Trp) single nucleotide variant not specified [RCV004241589] Chr4:8601203 [GRCh38]
Chr4:8602930 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1679A>G (p.Lys560Arg) single nucleotide variant not specified [RCV004206857] Chr4:8619337 [GRCh38]
Chr4:8621064 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.718G>C (p.Glu240Gln) single nucleotide variant not specified [RCV004204249] Chr4:8605997 [GRCh38]
Chr4:8607724 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1286C>T (p.Ser429Leu) single nucleotide variant not specified [RCV004231412] Chr4:8612085 [GRCh38]
Chr4:8613812 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1438C>A (p.Pro480Thr) single nucleotide variant not specified [RCV004099386] Chr4:8614433 [GRCh38]
Chr4:8616160 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1804G>A (p.Asp602Asn) single nucleotide variant not specified [RCV004599426] Chr4:8619462 [GRCh38]
Chr4:8621189 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1858C>T (p.Arg620Trp) single nucleotide variant not specified [RCV004212586] Chr4:8619516 [GRCh38]
Chr4:8621243 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.11C>A (p.Pro4Gln) single nucleotide variant not specified [RCV004119104] Chr4:8592844 [GRCh38]
Chr4:8594571 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1520A>G (p.Lys507Arg) single nucleotide variant not specified [RCV004160878] Chr4:8618445 [GRCh38]
Chr4:8620172 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1585C>T (p.Arg529Cys) single nucleotide variant not specified [RCV004078125] Chr4:8618510 [GRCh38]
Chr4:8620237 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.172C>A (p.His58Asn) single nucleotide variant not specified [RCV004223108] Chr4:8601173 [GRCh38]
Chr4:8602900 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.43G>A (p.Val15Ile) single nucleotide variant not specified [RCV004256274] Chr4:8592876 [GRCh38]
Chr4:8594603 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1859G>A (p.Arg620Gln) single nucleotide variant not specified [RCV004248185] Chr4:8619517 [GRCh38]
Chr4:8621244 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1834G>C (p.Glu612Gln) single nucleotide variant not specified [RCV004256640] Chr4:8619492 [GRCh38]
Chr4:8621219 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1062G>T (p.Trp354Cys) single nucleotide variant not specified [RCV004263405] Chr4:8606892 [GRCh38]
Chr4:8608619 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.183C>A (p.Phe61Leu) single nucleotide variant not specified [RCV004279342] Chr4:8601184 [GRCh38]
Chr4:8602911 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1670G>C (p.Gly557Ala) single nucleotide variant not specified [RCV004266849] Chr4:8619328 [GRCh38]
Chr4:8621055 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1874C>A (p.Pro625His) single nucleotide variant not specified [RCV004271388] Chr4:8619532 [GRCh38]
Chr4:8621259 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1853C>T (p.Pro618Leu) single nucleotide variant not specified [RCV004248577] Chr4:8619511 [GRCh38]
Chr4:8621238 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1877C>T (p.Ser626Leu) single nucleotide variant not specified [RCV004253302] Chr4:8619535 [GRCh38]
Chr4:8621262 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.288C>G (p.Asp96Glu) single nucleotide variant not specified [RCV004278233] Chr4:8601289 [GRCh38]
Chr4:8603016 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1114C>T (p.Pro372Ser) single nucleotide variant not specified [RCV004275488] Chr4:8607312 [GRCh38]
Chr4:8609039 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_001014447.3(CPZ):c.1147G>C (p.Asp383His) single nucleotide variant not specified [RCV004351743] Chr4:8607345 [GRCh38]
Chr4:8609072 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1843G>A (p.Glu615Lys) single nucleotide variant not specified [RCV004335386] Chr4:8619501 [GRCh38]
Chr4:8621228 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.412A>G (p.Met138Val) single nucleotide variant not specified [RCV004353934] Chr4:8601413 [GRCh38]
Chr4:8603140 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.643C>T (p.Arg215Cys) single nucleotide variant not specified [RCV004345930] Chr4:8604122 [GRCh38]
Chr4:8605849 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.1(chr4:7810354-8620214)x3 copy number gain not provided [RCV003484170] Chr4:7810354..8620214 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.1(chr4:8521116-8609785)x1 copy number loss not provided [RCV003485414] Chr4:8521116..8609785 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.1(chr4:8379061-8620214)x1 copy number loss not provided [RCV003485411] Chr4:8379061..8620214 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.1(chr4:8453874-8609785)x1 copy number loss not provided [RCV003485412] Chr4:8453874..8609785 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.36C>T (p.Val12=) single nucleotide variant not provided [RCV003439255] Chr4:8592869 [GRCh38]
Chr4:8594596 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1674C>G (p.Tyr558Ter) single nucleotide variant not provided [RCV003490631] Chr4:8619332 [GRCh38]
Chr4:8621059 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.906+1G>A single nucleotide variant not provided [RCV003490632] Chr4:8606186 [GRCh38]
Chr4:8607913 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_001014447.3(CPZ):c.1287G>A (p.Ser429=) single nucleotide variant CPZ-related disorder [RCV003966746]|not provided [RCV003885961] Chr4:8612086 [GRCh38]
Chr4:8613813 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1704C>T (p.Pro568=) single nucleotide variant CPZ-related disorder [RCV003941529] Chr4:8619362 [GRCh38]
Chr4:8621089 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1723G>C (p.Gly575Arg) single nucleotide variant CPZ-related disorder [RCV003892284] Chr4:8619381 [GRCh38]
Chr4:8621108 [GRCh37]
Chr4:4p16.1		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_001014447.3(CPZ):c.344G>A (p.Arg115His) single nucleotide variant not specified [RCV004374786] Chr4:8601345 [GRCh38]
Chr4:8603072 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.206C>T (p.Ser69Leu) single nucleotide variant not specified [RCV004374784] Chr4:8601207 [GRCh38]
Chr4:8602934 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1897T>C (p.Trp633Arg) single nucleotide variant not specified [RCV004374783] Chr4:8619555 [GRCh38]
Chr4:8621282 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1760G>C (p.Gly587Ala) single nucleotide variant not specified [RCV004374780] Chr4:8619418 [GRCh38]
Chr4:8621145 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1633C>G (p.Pro545Ala) single nucleotide variant not specified [RCV004374777] Chr4:8619291 [GRCh38]
Chr4:8621018 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1295G>A (p.Arg432Lys) single nucleotide variant not specified [RCV004374774] Chr4:8612094 [GRCh38]
Chr4:8613821 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1278G>A (p.Met426Ile) single nucleotide variant not specified [RCV004374772] Chr4:8612077 [GRCh38]
Chr4:8613804 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1787G>A (p.Arg596Gln) single nucleotide variant CPZ-related disorder [RCV003919776] Chr4:8619445 [GRCh38]
Chr4:8621172 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1106A>G (p.Gln369Arg) single nucleotide variant not specified [RCV004374764] Chr4:8607304 [GRCh38]
Chr4:8609031 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1141G>C (p.Gly381Arg) single nucleotide variant not specified [RCV004374766] Chr4:8607339 [GRCh38]
Chr4:8609066 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1165C>G (p.Pro389Ala) single nucleotide variant not specified [RCV004374767] Chr4:8607363 [GRCh38]
Chr4:8609090 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1171G>C (p.Asp391His) single nucleotide variant not specified [RCV004374768] Chr4:8607369 [GRCh38]
Chr4:8609096 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.764G>A (p.Arg255Gln) single nucleotide variant not specified [RCV004374794] Chr4:8606043 [GRCh38]
Chr4:8607770 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.832C>T (p.Arg278Cys) single nucleotide variant not specified [RCV004374797] Chr4:8606111 [GRCh38]
Chr4:8607838 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.878C>T (p.Pro293Leu) single nucleotide variant not specified [RCV004374799] Chr4:8606157 [GRCh38]
Chr4:8607884 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.887A>G (p.Tyr296Cys) single nucleotide variant not specified [RCV004374800] Chr4:8606166 [GRCh38]
Chr4:8607893 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.68A>G (p.Glu23Gly) single nucleotide variant not specified [RCV004374793] Chr4:8592901 [GRCh38]
Chr4:8594628 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.618C>G (p.His206Gln) single nucleotide variant not specified [RCV004374792] Chr4:8604097 [GRCh38]
Chr4:8605824 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1364-40_1364-6del deletion CPZ-related disorder [RCV003903829] Chr4:8614306..8614340 [GRCh38]
Chr4:8616033..8616067 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.462C>T (p.Asp154=) single nucleotide variant CPZ-related disorder [RCV003903972] Chr4:8601463 [GRCh38]
Chr4:8603190 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.584G>A (p.Arg195His) single nucleotide variant not specified [RCV004374791] Chr4:8604063 [GRCh38]
Chr4:8605790 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.349C>A (p.Pro117Thr) single nucleotide variant not specified [RCV004374787] Chr4:8601350 [GRCh38]
Chr4:8603077 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1502C>T (p.Thr501Met) single nucleotide variant CPZ-related disorder [RCV003954959] Chr4:8614497 [GRCh38]
Chr4:8616224 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.612C>T (p.Cys204=) single nucleotide variant CPZ-related disorder [RCV003981857] Chr4:8604091 [GRCh38]
Chr4:8605818 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1341G>A (p.Ala447=) single nucleotide variant CPZ-related disorder [RCV003981973] Chr4:8612140 [GRCh38]
Chr4:8613867 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1182G>T (p.Lys394Asn) single nucleotide variant not specified [RCV004374769] Chr4:8607380 [GRCh38]
Chr4:8609107 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.97C>T (p.His33Tyr) single nucleotide variant not specified [RCV004374802] Chr4:8599461 [GRCh38]
Chr4:8601188 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.986C>T (p.Thr329Met) single nucleotide variant not specified [RCV004374803] Chr4:8606816 [GRCh38]
Chr4:8608543 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.427T>C (p.Phe143Leu) single nucleotide variant not specified [RCV004374789] Chr4:8601428 [GRCh38]
Chr4:8603155 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1663G>C (p.Ala555Pro) single nucleotide variant not specified [RCV004374778] Chr4:8619321 [GRCh38]
Chr4:8621048 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1858C>G (p.Arg620Gly) single nucleotide variant not specified [RCV004374782] Chr4:8619516 [GRCh38]
Chr4:8621243 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1753G>C (p.Gly585Arg) single nucleotide variant not specified [RCV004374779] Chr4:8619411 [GRCh38]
Chr4:8621138 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1565G>A (p.Arg522Gln) single nucleotide variant not specified [RCV004374776] Chr4:8618490 [GRCh38]
Chr4:8620217 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1358C>T (p.Thr453Met) single nucleotide variant not specified [RCV004374775] Chr4:8612157 [GRCh38]
Chr4:8613884 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1214C>A (p.Thr405Lys) single nucleotide variant not specified [RCV004374771] Chr4:8607412 [GRCh38]
Chr4:8609139 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1210C>G (p.Pro404Ala) single nucleotide variant not specified [RCV004374770] Chr4:8607408 [GRCh38]
Chr4:8609135 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.12G>C (p.Pro4=) single nucleotide variant CPZ-related disorder [RCV003979094] Chr4:8592845 [GRCh38]
Chr4:8594572 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1062G>A (p.Trp354Ter) single nucleotide variant CPZ-related disorder [RCV003901497] Chr4:8606892 [GRCh38]
Chr4:8608619 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.379G>A (p.Glu127Lys) single nucleotide variant not specified [RCV004374788] Chr4:8601380 [GRCh38]
Chr4:8603107 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.814G>T (p.Gly272Cys) single nucleotide variant not specified [RCV004374796] Chr4:8606093 [GRCh38]
Chr4:8607820 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1260C>T (p.Asp420=) single nucleotide variant CPZ-related disorder [RCV003979561] Chr4:8612059 [GRCh38]
Chr4:8613786 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1099T>C (p.Trp367Arg) single nucleotide variant not specified [RCV004374763] Chr4:8607297 [GRCh38]
Chr4:8609024 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1117T>C (p.Phe373Leu) single nucleotide variant not specified [RCV004374765] Chr4:8607315 [GRCh38]
Chr4:8609042 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.851G>T (p.Arg284Leu) single nucleotide variant not specified [RCV004374798] Chr4:8606130 [GRCh38]
Chr4:8607857 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.956T>C (p.Leu319Pro) single nucleotide variant not specified [RCV004374801] Chr4:8606786 [GRCh38]
Chr4:8608513 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.654C>A (p.Asp218Glu) single nucleotide variant CPZ-related disorder [RCV003919514] Chr4:8604133 [GRCh38]
Chr4:8605860 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1782G>A (p.Gly594=) single nucleotide variant CPZ-related disorder [RCV003919735] Chr4:8619440 [GRCh38]
Chr4:8621167 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.*4C>T single nucleotide variant CPZ-related disorder [RCV003954945] Chr4:8619621 [GRCh38]
Chr4:8621348 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.*7C>G single nucleotide variant CPZ-related disorder [RCV003906920] Chr4:8619624 [GRCh38]
Chr4:8621351 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.389A>T (p.Gln130Leu) single nucleotide variant CPZ-related disorder [RCV003973941] Chr4:8601390 [GRCh38]
Chr4:8603117 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.56G>C (p.Arg19Pro) single nucleotide variant CPZ-related disorder [RCV003964296] Chr4:8592889 [GRCh38]
Chr4:8594616 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1709G>A (p.Arg570Gln) single nucleotide variant CPZ-related disorder [RCV003922145] Chr4:8619367 [GRCh38]
Chr4:8621094 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1884C>T (p.Asp628=) single nucleotide variant CPZ-related disorder [RCV003917217] Chr4:8619542 [GRCh38]
Chr4:8621269 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1438C>G (p.Pro480Ala) single nucleotide variant CPZ-related disorder [RCV003932053] Chr4:8614433 [GRCh38]
Chr4:8616160 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.850C>T (p.Arg284Cys) single nucleotide variant CPZ-related disorder [RCV003959222] Chr4:8606129 [GRCh38]
Chr4:8607856 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.497-5C>G single nucleotide variant CPZ-related disorder [RCV003969110] Chr4:8603971 [GRCh38]
Chr4:8605698 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.639C>T (p.Ile213=) single nucleotide variant CPZ-related disorder [RCV003931472] Chr4:8604118 [GRCh38]
Chr4:8605845 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1198A>G (p.Lys400Glu) single nucleotide variant CPZ-related disorder [RCV003931451] Chr4:8607396 [GRCh38]
Chr4:8609123 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.1504-3C>T single nucleotide variant CPZ-related disorder [RCV003976415] Chr4:8618426 [GRCh38]
Chr4:8620153 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.613G>A (p.Ala205Thr) single nucleotide variant CPZ-related disorder [RCV003959467] Chr4:8604092 [GRCh38]
Chr4:8605819 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.903C>G (p.Ala301=) single nucleotide variant CPZ-related disorder [RCV003911709] Chr4:8606182 [GRCh38]
Chr4:8607909 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.231C>T (p.Ser77=) single nucleotide variant CPZ-related disorder [RCV003942006] Chr4:8601232 [GRCh38]
Chr4:8602959 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.377G>A (p.Arg126Gln) single nucleotide variant CPZ-related disorder [RCV003924674] Chr4:8601378 [GRCh38]
Chr4:8603105 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1236G>T (p.Lys412Asn) single nucleotide variant CPZ-related disorder [RCV003914434] Chr4:8612035 [GRCh38]
Chr4:8613762 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1363+6G>T single nucleotide variant CPZ-related disorder [RCV003972152] Chr4:8612168 [GRCh38]
Chr4:8613895 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.366C>T (p.Cys122=) single nucleotide variant CPZ-related disorder [RCV003942229] Chr4:8601367 [GRCh38]
Chr4:8603094 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.514G>A (p.Glu172Lys) single nucleotide variant not specified [RCV004374790] Chr4:8603993 [GRCh38]
Chr4:8605720 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1767G>T (p.Lys589Asn) single nucleotide variant not specified [RCV004374781] Chr4:8619425 [GRCh38]
Chr4:8621152 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1511G>A (p.Arg504Gln) single nucleotide variant CPZ-related disorder [RCV003914365] Chr4:8618436 [GRCh38]
Chr4:8620163 [GRCh37]
Chr4:4p16.1		 benign
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001014447.3(CPZ):c.-10C>T single nucleotide variant CPZ-related disorder [RCV003916782] Chr4:8592824 [GRCh38]
Chr4:8594551 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.17C>T (p.Pro6Leu) single nucleotide variant CPZ-related disorder [RCV003974640] Chr4:8592850 [GRCh38]
Chr4:8594577 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1674C>T (p.Tyr558=) single nucleotide variant CPZ-related disorder [RCV003904204] Chr4:8619332 [GRCh38]
Chr4:8621059 [GRCh37]
Chr4:4p16.1		 likely benign
NM_001014447.3(CPZ):c.654C>T (p.Asp218=) single nucleotide variant CPZ-related disorder [RCV003976526] Chr4:8604133 [GRCh38]
Chr4:8605860 [GRCh37]
Chr4:4p16.1		 benign
NM_001014447.3(CPZ):c.1432T>C (p.Phe478Leu) single nucleotide variant not specified [RCV004611159] Chr4:8614427 [GRCh38]
Chr4:8616154 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.584G>C (p.Arg195Pro) single nucleotide variant not specified [RCV004611164] Chr4:8604063 [GRCh38]
Chr4:8605790 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.855C>G (p.Ile285Met) single nucleotide variant not specified [RCV004611169] Chr4:8606134 [GRCh38]
Chr4:8607861 [GRCh37]
Chr4:4p16.1		 uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001014447.3(CPZ):c.1865G>A (p.Arg622His) single nucleotide variant not specified [RCV004611157] Chr4:8619523 [GRCh38]
Chr4:8621250 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1940G>A (p.Arg647His) single nucleotide variant not specified [RCV004611155] Chr4:8619598 [GRCh38]
Chr4:8621325 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.22C>A (p.Leu8Met) single nucleotide variant not specified [RCV004611163] Chr4:8592855 [GRCh38]
Chr4:8594582 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1726C>T (p.Arg576Cys) single nucleotide variant not specified [RCV004611160] Chr4:8619384 [GRCh38]
Chr4:8621111 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1096A>G (p.Lys366Glu) single nucleotide variant not specified [RCV004611170] Chr4:8607294 [GRCh38]
Chr4:8609021 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.477C>G (p.Asp159Glu) single nucleotide variant not specified [RCV004611171] Chr4:8601478 [GRCh38]
Chr4:8603205 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.933C>G (p.Ser311Arg) single nucleotide variant not specified [RCV004611158] Chr4:8606763 [GRCh38]
Chr4:8608490 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1347G>C (p.Trp449Cys) single nucleotide variant not specified [RCV004611162] Chr4:8612146 [GRCh38]
Chr4:8613873 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.203G>A (p.Arg68Gln) single nucleotide variant not specified [RCV004611166] Chr4:8601204 [GRCh38]
Chr4:8602931 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1754G>T (p.Gly585Val) single nucleotide variant not specified [RCV004611172] Chr4:8619412 [GRCh38]
Chr4:8621139 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.81C>A (p.Asn27Lys) single nucleotide variant not specified [RCV004611165] Chr4:8592914 [GRCh38]
Chr4:8594641 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.259C>A (p.Gln87Lys) single nucleotide variant not specified [RCV004611168] Chr4:8601260 [GRCh38]
Chr4:8602987 [GRCh37]
Chr4:4p16.1		 uncertain significance
NM_001014447.3(CPZ):c.1015C>T (p.Arg339Cys) single nucleotide variant not specified [RCV004611161] Chr4:8606845 [GRCh38]
Chr4:8608572 [GRCh37]
Chr4:4p16.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4164
Count of miRNA genes:947
Interacting mature miRNAs:1158
Transcripts:ENST00000315782, ENST00000360986, ENST00000382480, ENST00000429646, ENST00000504070, ENST00000506287, ENST00000513486, ENST00000514602, ENST00000514875, ENST00000515606
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407016514GWAS665490_Hbody height QTL GWAS665490 (human)8e-28body height (VT:0001253)body height (CMO:0000106)486069078606908Human
407208804GWAS857780_Hbody height QTL GWAS857780 (human)2e-53body height (VT:0001253)body height (CMO:0000106)485969718596972Human
407146503GWAS795479_Hneuroblastoma QTL GWAS795479 (human)1e-12neuroblastoma486112998611300Human
407373324GWAS1022300_Hbody fat distribution QTL GWAS1022300 (human)5e-12body fat distributionbody fat morphological measurement (CMO:0000089)486010718601072Human
407213345GWAS862321_Happendicular lean mass QTL GWAS862321 (human)3e-12appendicular lean mass486081218608122Human
407147938GWAS796914_Hbody height QTL GWAS796914 (human)0.000008body height (VT:0001253)body height (CMO:0000106)486027738602774Human
407231241GWAS880217_Hbody height QTL GWAS880217 (human)2e-69body height (VT:0001253)body height (CMO:0000106)485954138595414Human
407155307GWAS804283_Hbody height QTL GWAS804283 (human)6e-24body height (VT:0001253)body height (CMO:0000106)485969718596972Human
407231223GWAS880199_Hbody height QTL GWAS880199 (human)1e-191body height (VT:0001253)body height (CMO:0000106)485995718599572Human
407020881GWAS669857_Hbody height QTL GWAS669857 (human)5e-28body height (VT:0001253)body height (CMO:0000106)485929568592957Human
406919282GWAS568258_Hbody height QTL GWAS568258 (human)9e-17body height (VT:0001253)body height (CMO:0000106)485969718596972Human
407372635GWAS1021611_Hbody fat distribution QTL GWAS1021611 (human)0.0000002body fat distributionbody fat morphological measurement (CMO:0000089)486010718601072Human
407372987GWAS1021963_Hbody fat distribution QTL GWAS1021963 (human)4e-13body fat distributionbody fat morphological measurement (CMO:0000089)486010718601072Human
407413853GWAS1062829_Hbody height QTL GWAS1062829 (human)5e-11body height (VT:0001253)body height (CMO:0000106)486010718601072Human
407372637GWAS1021613_Hbody fat distribution QTL GWAS1021613 (human)0.0000008body fat distributionbody fat morphological measurement (CMO:0000089)486010718601072Human
406914296GWAS563272_HAbnormality of refraction QTL GWAS563272 (human)2e-08Abnormality of refraction486004988600499Human
407019643GWAS668619_Hbody height QTL GWAS668619 (human)1e-13body height (VT:0001253)body height (CMO:0000106)486069078606908Human
407312573GWAS961549_Hbody height QTL GWAS961549 (human)7e-46body height (VT:0001253)body height (CMO:0000106)485969718596972Human
407196446GWAS845422_Hbody height QTL GWAS845422 (human)8e-22body height (VT:0001253)body height (CMO:0000106)485969718596972Human
407373332GWAS1022308_Hbody fat distribution QTL GWAS1022308 (human)0.0000001body fat distributionbody fat morphological measurement (CMO:0000089)486010718601072Human
407230938GWAS879914_Hbody height QTL GWAS879914 (human)5e-15body height (VT:0001253)body height (CMO:0000106)485929568592957Human
406887519GWAS536495_Htemporal horn of lateral ventricle volume measurement QTL GWAS536495 (human)0.000003lateral ventricle size trait (VT:0000825)486020688602069Human

Markers in Region
SHGC-59629  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3748,621,287 - 8,621,466UniSTSGRCh37
Build 3648,672,187 - 8,672,366RGDNCBI36
Celera48,514,165 - 8,514,344RGD
Cytogenetic Map4p16.1UniSTS
HuRef48,540,779 - 8,540,958UniSTS
GeneMap99-GB4 RH Map455.78UniSTS
SHGC-142877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3748,612,114 - 8,612,392UniSTSGRCh37
Build 3648,663,014 - 8,663,292RGDNCBI36
Celera48,504,995 - 8,505,273RGD
Cytogenetic Map4p16.1UniSTS
HuRef48,531,609 - 8,531,887UniSTS
TNG Radiation Hybrid Map45323.0UniSTS
stb301J.ca1b  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3748,612,638 - 8,612,878UniSTSGRCh37
Build 3648,663,538 - 8,663,778RGDNCBI36
Celera48,505,519 - 8,505,759RGD
HuRef48,532,133 - 8,532,373UniSTS
stb301J10.p2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3748,607,013 - 8,607,230UniSTSGRCh37
Build 3648,657,913 - 8,658,130RGDNCBI36
Celera48,499,811 - 8,500,044RGD
HuRef48,526,418 - 8,526,651UniSTS
G65151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3748,607,999 - 8,608,226UniSTSGRCh37
Build 3648,658,899 - 8,659,126RGDNCBI36
Celera48,500,813 - 8,501,040RGD
Cytogenetic Map4p16.1UniSTS
HuRef48,527,420 - 8,527,647UniSTS


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
1157 2145 1956 1610 3458 1475 2016 6 408 546 264 2076 4157 4323 21 2366 1 663 1670 1490 156 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001014447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001014448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC105345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI270606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW139378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF993977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX338482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV026874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA050438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA698835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA704214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY966302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U83411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000315782   ⟹   ENSP00000315074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,756 - 8,619,749 (+)Ensembl
Ensembl Acc Id: ENST00000360986   ⟹   ENSP00000354255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,765 - 8,619,752 (+)Ensembl
Ensembl Acc Id: ENST00000382480   ⟹   ENSP00000371920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,660 - 8,619,759 (+)Ensembl
Ensembl Acc Id: ENST00000504070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,797 - 8,601,450 (+)Ensembl
Ensembl Acc Id: ENST00000506287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,708 - 8,601,498 (+)Ensembl
Ensembl Acc Id: ENST00000513486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,618,092 - 8,619,487 (+)Ensembl
Ensembl Acc Id: ENST00000514602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,782 - 8,601,508 (+)Ensembl
Ensembl Acc Id: ENST00000514875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,834 - 8,599,961 (+)Ensembl
Ensembl Acc Id: ENST00000515606   ⟹   ENSP00000422693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl48,592,726 - 8,619,751 (+)Ensembl
RefSeq Acc Id: NM_001014447   ⟹   NP_001014447
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3848,592,765 - 8,619,752 (+)NCBI
GRCh3748,594,387 - 8,621,488 (+)ENTREZGENE
Build 3648,645,335 - 8,672,388 (+)NCBI Archive
Celera48,487,239 - 8,514,366 (+)RGD
HuRef48,513,792 - 8,540,980 (+)ENTREZGENE
CHM1_148,592,625 - 8,619,813 (+)NCBI
T2T-CHM13v2.048,572,626 - 8,599,700 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001014448   ⟹   NP_001014448
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3848,592,765 - 8,619,752 (+)NCBI
GRCh3748,594,387 - 8,621,488 (+)ENTREZGENE
Build 3648,645,335 - 8,672,388 (+)NCBI Archive
Celera48,487,239 - 8,514,366 (+)RGD
HuRef48,513,792 - 8,540,980 (+)ENTREZGENE
CHM1_148,592,625 - 8,619,813 (+)NCBI
T2T-CHM13v2.048,572,626 - 8,599,700 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003652   ⟹   NP_003643
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3848,592,765 - 8,619,752 (+)NCBI
GRCh3748,594,387 - 8,621,488 (+)ENTREZGENE
Build 3648,645,335 - 8,672,388 (+)NCBI Archive
Celera48,487,239 - 8,514,366 (+)RGD
HuRef48,513,792 - 8,540,980 (+)ENTREZGENE
CHM1_148,592,625 - 8,619,813 (+)NCBI
T2T-CHM13v2.048,572,626 - 8,599,700 (+)NCBI
Sequence:
RefSeq Acc Id: NP_003643   ⟸   NM_003652
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A384MDV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014447   ⟸   NM_001014447
- Peptide Label: isoform 1 precursor
- UniProtKB: Q66K79 (UniProtKB/Swiss-Prot),   O00520 (UniProtKB/Swiss-Prot),   Q96MX2 (UniProtKB/Swiss-Prot),   A0A384MDV6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001014448   ⟸   NM_001014448
- Peptide Label: isoform 3
- Sequence:
Ensembl Acc Id: ENSP00000354255   ⟸   ENST00000360986
Ensembl Acc Id: ENSP00000315074   ⟸   ENST00000315782
Ensembl Acc Id: ENSP00000371920   ⟸   ENST00000382480
Ensembl Acc Id: ENSP00000422693   ⟸   ENST00000515606
Protein Domains
FZ   Peptidase M14

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q66K79-F1-model_v2 AlphaFold Q66K79 1-652 view protein structure

Promoters
RGD ID:6867022
Promoter ID:EPDNEW_H6676
Type:initiation region
Name:CPZ_1
Description:carboxypeptidase Z
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6677  EPDNEW_H6678  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3848,592,796 - 8,592,856EPDNEW
RGD ID:6867024
Promoter ID:EPDNEW_H6677
Type:multiple initiation site
Name:CPZ_3
Description:carboxypeptidase Z
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6676  EPDNEW_H6678  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3848,600,952 - 8,601,012EPDNEW
RGD ID:6867026
Promoter ID:EPDNEW_H6678
Type:multiple initiation site
Name:CPZ_2
Description:carboxypeptidase Z
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6676  EPDNEW_H6677  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3848,619,506 - 8,619,566EPDNEW
RGD ID:6802193
Promoter ID:HG_KWN:47843
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:ENST00000315782,   ENST00000360986,   NM_001014448
Position:
Human AssemblyChrPosition (strand)Source
Build 3648,645,201 - 8,645,701 (+)MPROMDB
RGD ID:6802138
Promoter ID:HG_KWN:47844
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003GLP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3648,653,291 - 8,654,042 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2333 AgrOrtholog
COSMIC CPZ COSMIC
Ensembl Genes ENSG00000109625 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000315782 ENTREZGENE
  ENST00000315782.6 UniProtKB/Swiss-Prot
  ENST00000360986 ENTREZGENE
  ENST00000360986.9 UniProtKB/Swiss-Prot
  ENST00000382480 ENTREZGENE
  ENST00000382480.6 UniProtKB/Swiss-Prot
  ENST00000515606.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carboxypeptidase-like, regulatory domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn peptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000109625 GTEx
HGNC ID HGNC:2333 ENTREZGENE
Human Proteome Map CPZ Human Proteome Map
InterPro CarboxyPept-like_regulatory UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  M14_CPZ_CPD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8532 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8532 ENTREZGENE
OMIM 603105 OMIM
PANTHER CARBOXYPEPTIDASE Z UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEASE M14 CARBOXYPEPTIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CarboxypepD_reg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26854 PharmGKB
PRINTS CRBOXYPTASEA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CARBOXYPEPT_ZN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDASE_M14 UniProtKB/Swiss-Prot
  PS50038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FRI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn_pept UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49464 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Zn-dependent exopeptidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MDV6 ENTREZGENE, UniProtKB/TrEMBL
  CBPZ_HUMAN UniProtKB/Swiss-Prot
  D6RBI5_HUMAN UniProtKB/TrEMBL
  O00520 ENTREZGENE
  Q66K79 ENTREZGENE
  Q96MX2 ENTREZGENE
UniProt Secondary O00520 UniProtKB/Swiss-Prot
  Q96MX2 UniProtKB/Swiss-Prot