CPED1 (cadherin like and PC-esterase domain containing 1) - Rat Genome Database

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Gene: CPED1 (cadherin like and PC-esterase domain containing 1) Homo sapiens
Analyze
Symbol: CPED1
Name: cadherin like and PC-esterase domain containing 1
RGD ID: 1605333
HGNC Page HGNC:26159
Description: Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C7orf58; cadherin-like and PC-esterase domain containing 1; cadherin-like and PC-esterase domain-containing protein 1; FLJ21986; FLJ26813; hypothetical protein LOC79974; uncharacterized protein C7orf58
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
GRCh387120,988,711 - 121,297,442 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7120,988,697 - 121,297,442 (+)EnsemblGRCh38hg38GRCh38
GRCh377120,628,765 - 120,937,496 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367120,415,987 - 120,724,734 (+)NCBINCBI36Build 36hg18NCBI36
Celera7115,438,272 - 115,746,685 (+)NCBICelera
Cytogenetic Map7q31.31NCBI
HuRef7114,991,976 - 115,300,687 (+)NCBIHuRef
CHM1_17120,562,065 - 120,870,800 (+)NCBICHM1_1
T2T-CHM13v2.07122,304,057 - 122,612,831 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27120,023,845 - 120,332,239 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
carbon nanotube  (ISO)
chlordecone  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
indometacin  (EXP)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (ISO)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7829101   PMID:8125298   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12853948   PMID:12975309   PMID:14702039   PMID:15489336   PMID:16341674   PMID:16381901  
PMID:20031566   PMID:20056006   PMID:20082467   PMID:20379614   PMID:21244100   PMID:22504420   PMID:22792070   PMID:24945404   PMID:36232890  


Genomics

Comparative Map Data
CPED1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387120,988,711 - 121,297,442 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7120,988,697 - 121,297,442 (+)EnsemblGRCh38hg38GRCh38
GRCh377120,628,765 - 120,937,496 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367120,415,987 - 120,724,734 (+)NCBINCBI36Build 36hg18NCBI36
Celera7115,438,272 - 115,746,685 (+)NCBICelera
Cytogenetic Map7q31.31NCBI
HuRef7114,991,976 - 115,300,687 (+)NCBIHuRef
CHM1_17120,562,065 - 120,870,800 (+)NCBICHM1_1
T2T-CHM13v2.07122,304,057 - 122,612,831 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27120,023,845 - 120,332,239 (+)NCBI
Cped1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39621,985,875 - 22,256,406 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl621,985,915 - 22,256,403 (+)EnsemblGRCm39 Ensembl
GRCm38621,985,710 - 22,256,407 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl621,985,916 - 22,256,404 (+)EnsemblGRCm38mm10GRCm38
MGSCv37621,935,910 - 22,205,606 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36621,935,911 - 22,205,607 (+)NCBIMGSCv36mm8
Celera622,039,934 - 22,310,126 (+)NCBICelera
Cytogenetic Map6A3.1NCBI
cM Map68.86NCBI
Cped1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8451,482,497 - 51,755,440 (+)NCBIGRCr8
mRatBN7.2450,516,712 - 50,789,651 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl450,516,819 - 50,788,674 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0449,055,988 - 49,333,729 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl449,056,010 - 49,333,304 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0448,850,970 - 49,127,847 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4448,295,056 - 48,568,314 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera445,723,759 - 45,996,332 (+)NCBICelera
Cytogenetic Map4q22NCBI
Cped1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554792,782,059 - 3,039,030 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554792,782,057 - 3,039,440 (+)NCBIChiLan1.0ChiLan1.0
CPED1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26157,858,549 - 158,171,351 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan179,868,929 - 10,184,088 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07112,997,867 - 113,240,213 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17125,684,738 - 125,997,449 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7125,685,423 - 125,996,060 (+)Ensemblpanpan1.1panPan2
CPED1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11459,104,501 - 59,364,820 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1459,104,496 - 59,364,695 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1458,521,215 - 58,782,351 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01459,140,853 - 59,401,889 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1459,140,818 - 59,400,275 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11459,234,426 - 59,495,308 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01458,857,948 - 59,120,135 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01459,236,763 - 59,498,137 (+)NCBIUU_Cfam_GSD_1.0
Cped1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511848,061,285 - 48,311,206 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366053,892,718 - 4,141,659 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366053,892,728 - 4,142,538 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPED1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1825,655,735 - 25,937,232 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11825,655,730 - 25,937,923 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21827,260,306 - 27,541,802 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CPED1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12189,813,375 - 90,121,527 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2189,814,332 - 90,123,795 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604213,440,952 - 13,757,412 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cped1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478314,790,540 - 15,085,263 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478314,791,083 - 15,085,241 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPED1
89 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1 copy number loss See cases [RCV000054160] Chr7:113799835..124899218 [GRCh38]
Chr7:113439890..124539272 [GRCh37]
Chr7:113227126..124326508 [NCBI36]
Chr7:7q31.1-31.33		 pathogenic
NM_001105533.1(CPED1):c.613C>T (p.Pro205Ser) single nucleotide variant Malignant melanoma [RCV000067598] Chr7:121064310 [GRCh38]
Chr7:120704364 [GRCh37]
Chr7:120491600 [NCBI36]
Chr7:7q31.31		 not provided
NM_001105533.1(CPED1):c.1203C>T (p.Phe401=) single nucleotide variant Malignant melanoma [RCV000067599] Chr7:121127158 [GRCh38]
Chr7:120767212 [GRCh37]
Chr7:120554448 [NCBI36]
Chr7:7q31.31		 not provided
NM_001105533.1(CPED1):c.1450G>A (p.Glu484Lys) single nucleotide variant Malignant melanoma [RCV000067600] Chr7:121130167 [GRCh38]
Chr7:120770221 [GRCh37]
Chr7:120557457 [NCBI36]
Chr7:7q31.31		 not provided
NM_024913.4(CPED1):c.2366G>A (p.Arg789Lys) single nucleotide variant Malignant melanoma [RCV000067601] Chr7:121266282 [GRCh38]
Chr7:120906336 [GRCh37]
Chr7:120693572 [NCBI36]
Chr7:7q31.31		 not provided
NM_001105533.1(CPED1):c.897G>A (p.Lys299=) single nucleotide variant Malignant melanoma [RCV000061543] Chr7:121100073 [GRCh38]
Chr7:120740127 [GRCh37]
Chr7:120527363 [NCBI36]
Chr7:7q31.31		 not provided
NM_001105533.1(CPED1):c.942C>T (p.Phe314=) single nucleotide variant Malignant melanoma [RCV000061544] Chr7:121124354 [GRCh38]
Chr7:120764408 [GRCh37]
Chr7:120551644 [NCBI36]
Chr7:7q31.31		 not provided
NM_001105533.1(CPED1):c.2056-26772T>C single nucleotide variant Lung cancer [RCV000105511] Chr7:121209942 [GRCh38]
Chr7:120849996 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_001105533.1(CPED1):c.2056-18222G>A single nucleotide variant Lung cancer [RCV000105512] Chr7:121218492 [GRCh38]
Chr7:120858546 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 copy number loss See cases [RCV000135311] Chr7:114142477..125840381 [GRCh38]
Chr7:113782532..125480435 [GRCh37]
Chr7:113569768..125267671 [NCBI36]
Chr7:7q31.1-31.33		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.31(chr7:121027884-121247246)x1 copy number loss See cases [RCV000136958] Chr7:121027884..121247246 [GRCh38]
Chr7:120667938..120887300 [GRCh37]
Chr7:120455174..120674536 [NCBI36]
Chr7:7q31.31		 benign
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31		 pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1 copy number loss See cases [RCV000240177] Chr7:111613396..127897316 [GRCh37]
Chr7:7q31.1-32.1		 pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7q31.31(chr7:120776280-120905656)x1 copy number loss See cases [RCV000449312] Chr7:120776280..120905656 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q31.31(chr7:120632159-120897181)x1 copy number loss See cases [RCV000511697] Chr7:120632159..120897181 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q31.31(chr7:120864414-121086762)x1 copy number loss See cases [RCV000511484] Chr7:120864414..121086762 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_024913.5(CPED1):c.23C>T (p.Pro8Leu) single nucleotide variant not specified [RCV004295151] Chr7:120989644 [GRCh38]
Chr7:120629698 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q31.31(chr7:120560714-120705300)x3 copy number gain not provided [RCV000747025] Chr7:120560714..120705300 [GRCh37]
Chr7:7q31.31		 benign
NM_024913.5(CPED1):c.2274T>G (p.Thr758=) single nucleotide variant not provided [RCV000981344] Chr7:121244302 [GRCh38]
Chr7:120884356 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_024913.5(CPED1):c.1938T>A (p.Val646=) single nucleotide variant not provided [RCV000886024] Chr7:121142024 [GRCh38]
Chr7:120782078 [GRCh37]
Chr7:7q31.31		 benign
NM_024913.5(CPED1):c.439C>G (p.Leu147Val) single nucleotide variant not specified [RCV004317730] Chr7:121046892 [GRCh38]
Chr7:120686946 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
GRCh37/hg19 7q31.31(chr7:120818380-121033193)x1 copy number loss not provided [RCV000849833] Chr7:120818380..121033193 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.548G>T (p.Arg183Ile) single nucleotide variant not specified [RCV004328432] Chr7:121064245 [GRCh38]
Chr7:120704299 [GRCh37]
Chr7:7q31.31		 likely benign
NM_024913.5(CPED1):c.2846A>C (p.Lys949Thr) single nucleotide variant not provided [RCV000975165] Chr7:121271408 [GRCh38]
Chr7:120911462 [GRCh37]
Chr7:7q31.31		 benign
NM_024913.5(CPED1):c.2634-3C>A single nucleotide variant not provided [RCV000963891] Chr7:121267212 [GRCh38]
Chr7:120907266 [GRCh37]
Chr7:7q31.31		 benign
NM_024913.5(CPED1):c.879A>G (p.Thr293=) single nucleotide variant not provided [RCV000971282] Chr7:121100055 [GRCh38]
Chr7:120740109 [GRCh37]
Chr7:7q31.31		 benign
NM_024913.5(CPED1):c.416C>T (p.Pro139Leu) single nucleotide variant not provided [RCV000912535] Chr7:121015831 [GRCh38]
Chr7:120655885 [GRCh37]
Chr7:7q31.31		 likely benign
NM_024913.5(CPED1):c.420G>A (p.Gly140=) single nucleotide variant not provided [RCV000890711] Chr7:121015835 [GRCh38]
Chr7:120655889 [GRCh37]
Chr7:7q31.31		 benign
GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1 copy number loss not provided [RCV001005991] Chr7:106617406..123217914 [GRCh37]
Chr7:7q22.3-31.32		 pathogenic
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694) copy number loss Global developmental delay [RCV001352642] Chr7:116297277..126370694 [GRCh37]
Chr7:7q31.2-31.33		 pathogenic
Single allele deletion Delayed speech and language development [RCV002251690] Chr7:114888786..124720929 [GRCh37]
Chr7:7q31.2-31.33		 likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q31.31(chr7:120632159-120893340)x1 copy number loss not provided [RCV001827613] Chr7:120632159..120893340 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7q31.31(chr7:120813156-121033289)x1 copy number loss not provided [RCV001832940] Chr7:120813156..121033289 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1		 pathogenic
GRCh37/hg19 7q31.31(chr7:120268066-120869197) copy number gain not specified [RCV002053719] Chr7:120268066..120869197 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1240G>A (p.Glu414Lys) single nucleotide variant not specified [RCV004300878] Chr7:121127195 [GRCh38]
Chr7:120767249 [GRCh37]
Chr7:7q31.31		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_024913.5(CPED1):c.2087C>G (p.Thr696Ser) single nucleotide variant not specified [RCV004292151] Chr7:121236745 [GRCh38]
Chr7:120876799 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2708A>G (p.His903Arg) single nucleotide variant not specified [RCV004297119] Chr7:121267289 [GRCh38]
Chr7:120907343 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.298A>T (p.Ile100Leu) single nucleotide variant not specified [RCV004329712] Chr7:121015713 [GRCh38]
Chr7:120655767 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2077C>T (p.Pro693Ser) single nucleotide variant not specified [RCV004282617] Chr7:121236735 [GRCh38]
Chr7:120876789 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2527C>G (p.Gln843Glu) single nucleotide variant not specified [RCV004109613] Chr7:121266443 [GRCh38]
Chr7:120906497 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2059T>C (p.Cys687Arg) single nucleotide variant not specified [RCV004138848] Chr7:121236717 [GRCh38]
Chr7:120876771 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2216C>T (p.Thr739Met) single nucleotide variant not specified [RCV004219243] Chr7:121244244 [GRCh38]
Chr7:120884298 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.290G>A (p.Arg97Gln) single nucleotide variant not specified [RCV004195038] Chr7:121015705 [GRCh38]
Chr7:120655759 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1138C>T (p.His380Tyr) single nucleotide variant not specified [RCV004190303] Chr7:121127093 [GRCh38]
Chr7:120767147 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1033T>A (p.Ser345Thr) single nucleotide variant not specified [RCV004101564] Chr7:121124445 [GRCh38]
Chr7:120764499 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1882C>T (p.Pro628Ser) single nucleotide variant not specified [RCV004103780] Chr7:121141009 [GRCh38]
Chr7:120781063 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.854G>A (p.Arg285His) single nucleotide variant not specified [RCV004175013] Chr7:121100030 [GRCh38]
Chr7:120740084 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2097A>T (p.Leu699Phe) single nucleotide variant not specified [RCV004145833] Chr7:121236755 [GRCh38]
Chr7:120876809 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.869C>T (p.Ser290Leu) single nucleotide variant not specified [RCV004221747] Chr7:121100045 [GRCh38]
Chr7:120740099 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1049A>C (p.Lys350Thr) single nucleotide variant not specified [RCV004181287] Chr7:121124461 [GRCh38]
Chr7:120764515 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1564C>T (p.His522Tyr) single nucleotide variant not specified [RCV004231128] Chr7:121130281 [GRCh38]
Chr7:120770335 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1185C>A (p.Asp395Glu) single nucleotide variant not specified [RCV004206166] Chr7:121127140 [GRCh38]
Chr7:120767194 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1140C>G (p.His380Gln) single nucleotide variant not specified [RCV004144350] Chr7:121127095 [GRCh38]
Chr7:120767149 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1636G>A (p.Glu546Lys) single nucleotide variant not specified [RCV004100730] Chr7:121133881 [GRCh38]
Chr7:120773935 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.899A>T (p.Lys300Ile) single nucleotide variant not specified [RCV004111808] Chr7:121100075 [GRCh38]
Chr7:120740129 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1447C>A (p.His483Asn) single nucleotide variant not specified [RCV004074200] Chr7:121130164 [GRCh38]
Chr7:120770218 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.4G>A (p.Val2Ile) single nucleotide variant not specified [RCV004198407] Chr7:120989625 [GRCh38]
Chr7:120629679 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.485A>T (p.Glu162Val) single nucleotide variant not specified [RCV004239030] Chr7:121046938 [GRCh38]
Chr7:120686992 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1629T>A (p.Asp543Glu) single nucleotide variant not specified [RCV004174642] Chr7:121133874 [GRCh38]
Chr7:120773928 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.374C>T (p.Thr125Met) single nucleotide variant not specified [RCV004196440] Chr7:121015789 [GRCh38]
Chr7:120655843 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.464G>T (p.Cys155Phe) single nucleotide variant not specified [RCV004166240] Chr7:121046917 [GRCh38]
Chr7:120686971 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2778A>T (p.Lys926Asn) single nucleotide variant not specified [RCV004096050] Chr7:121271340 [GRCh38]
Chr7:120911394 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.254A>G (p.Lys85Arg) single nucleotide variant not specified [RCV004215815] Chr7:121015669 [GRCh38]
Chr7:120655723 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1343T>C (p.Leu448Ser) single nucleotide variant not specified [RCV004090667] Chr7:121128422 [GRCh38]
Chr7:120768476 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.358A>G (p.Thr120Ala) single nucleotide variant not specified [RCV004075610] Chr7:121015773 [GRCh38]
Chr7:120655827 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1159G>C (p.Asp387His) single nucleotide variant not specified [RCV004173174] Chr7:121127114 [GRCh38]
Chr7:120767168 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1451A>C (p.Glu484Ala) single nucleotide variant not specified [RCV004281311] Chr7:121130168 [GRCh38]
Chr7:120770222 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2930A>G (p.His977Arg) single nucleotide variant not specified [RCV004313369] Chr7:121295501 [GRCh38]
Chr7:120935555 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2041T>A (p.Cys681Ser) single nucleotide variant not specified [RCV004265706] Chr7:121142127 [GRCh38]
Chr7:120782181 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.659G>A (p.Gly220Glu) single nucleotide variant not specified [RCV004261092] Chr7:121097741 [GRCh38]
Chr7:120737795 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.211T>A (p.Cys71Ser) single nucleotide variant not specified [RCV004325854] Chr7:120989832 [GRCh38]
Chr7:120629886 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.131C>G (p.Ala44Gly) single nucleotide variant not specified [RCV004342335] Chr7:120989752 [GRCh38]
Chr7:120629806 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.758C>T (p.Thr253Met) single nucleotide variant not specified [RCV004350179] Chr7:121099934 [GRCh38]
Chr7:120739988 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.641C>G (p.Ser214Cys) single nucleotide variant not specified [RCV004345659] Chr7:121097723 [GRCh38]
Chr7:120737777 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2720A>G (p.Gln907Arg) single nucleotide variant not specified [RCV004358124] Chr7:121267301 [GRCh38]
Chr7:120907355 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1550A>G (p.Lys517Arg) single nucleotide variant not specified [RCV004335415] Chr7:121130267 [GRCh38]
Chr7:120770321 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1010C>T (p.Ala337Val) single nucleotide variant not provided [RCV003434108] Chr7:121124422 [GRCh38]
Chr7:120764476 [GRCh37]
Chr7:7q31.31		 likely benign
NM_024913.5(CPED1):c.241A>G (p.Thr81Ala) single nucleotide variant not provided [RCV003423760] Chr7:120989862 [GRCh38]
Chr7:120629916 [GRCh37]
Chr7:7q31.31		 likely benign
NM_024913.5(CPED1):c.2772A>C (p.Ala924=) single nucleotide variant not provided [RCV003423761] Chr7:121271334 [GRCh38]
Chr7:120911388 [GRCh37]
Chr7:7q31.31		 likely benign
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
GRCh37/hg19 7q31.31(chr7:120643929-120855277)x3 copy number gain not specified [RCV003986675] Chr7:120643929..120855277 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.338A>C (p.Gln113Pro) single nucleotide variant not specified [RCV004374447] Chr7:121015753 [GRCh38]
Chr7:120655807 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2069T>C (p.Leu690Pro) single nucleotide variant not specified [RCV004374442] Chr7:121236727 [GRCh38]
Chr7:120876781 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1994A>G (p.Tyr665Cys) single nucleotide variant not specified [RCV004374441] Chr7:121142080 [GRCh38]
Chr7:120782134 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1857G>C (p.Lys619Asn) single nucleotide variant not specified [RCV004374440] Chr7:121140984 [GRCh38]
Chr7:120781038 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1718A>G (p.His573Arg) single nucleotide variant not specified [RCV004374439] Chr7:121140845 [GRCh38]
Chr7:120780899 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1613C>T (p.Pro538Leu) single nucleotide variant not specified [RCV004374437] Chr7:121133858 [GRCh38]
Chr7:120773912 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1331A>G (p.Gln444Arg) single nucleotide variant not specified [RCV004374435] Chr7:121128410 [GRCh38]
Chr7:120768464 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1130T>C (p.Leu377Pro) single nucleotide variant not specified [RCV004374433] Chr7:121125888 [GRCh38]
Chr7:120765942 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1031C>T (p.Thr344Ile) single nucleotide variant not specified [RCV004374432] Chr7:121124443 [GRCh38]
Chr7:120764497 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.264G>A (p.Met88Ile) single nucleotide variant not specified [RCV004374443] Chr7:121015679 [GRCh38]
Chr7:120655733 [GRCh37]
Chr7:7q31.31		 likely benign
NM_024913.5(CPED1):c.298A>G (p.Ile100Val) single nucleotide variant not specified [RCV004374446] Chr7:121015713 [GRCh38]
Chr7:120655767 [GRCh37]
Chr7:7q31.31		 likely benign
NM_024913.5(CPED1):c.992T>C (p.Ile331Thr) single nucleotide variant not specified [RCV004374450] Chr7:121124404 [GRCh38]
Chr7:120764458 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2821C>T (p.Arg941Cys) single nucleotide variant not specified [RCV004374445] Chr7:121271383 [GRCh38]
Chr7:120911437 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.877A>C (p.Thr293Pro) single nucleotide variant not specified [RCV004374449] Chr7:121100053 [GRCh38]
Chr7:120740107 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.725C>G (p.Pro242Arg) single nucleotide variant not specified [RCV004374448] Chr7:121097807 [GRCh38]
Chr7:120737861 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.2678T>C (p.Ile893Thr) single nucleotide variant not specified [RCV004374444] Chr7:121267259 [GRCh38]
Chr7:120907313 [GRCh37]
Chr7:7q31.31		 uncertain significance
NM_024913.5(CPED1):c.1550A>C (p.Lys517Thr) single nucleotide variant not specified [RCV004374436] Chr7:121130267 [GRCh38]
Chr7:120770321 [GRCh37]
Chr7:7q31.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1851
Count of miRNA genes:975
Interacting mature miRNAs:1160
Transcripts:ENST00000310396, ENST00000340646, ENST00000423795, ENST00000428526, ENST00000443817, ENST00000450913, ENST00000466055, ENST00000495036, ENST00000520801, ENST00000521774
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D7S643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,733,429 - 120,733,540UniSTSGRCh37
GRCh377120,733,427 - 120,733,683UniSTSGRCh37
Build 367120,520,663 - 120,520,919RGDNCBI36
Celera7115,542,939 - 115,543,195RGD
Celera7115,542,941 - 115,543,052UniSTS
Cytogenetic Map7q31.31UniSTS
HuRef7115,096,644 - 115,096,900UniSTS
HuRef7115,096,646 - 115,096,757UniSTS
CRA_TCAGchr7v27120,128,523 - 120,128,634UniSTS
CRA_TCAGchr7v27120,128,521 - 120,128,777UniSTS
Marshfield Genetic Map7125.15RGD
Genethon Genetic Map7126.3UniSTS
TNG Radiation Hybrid Map754180.0UniSTS
deCODE Assembly Map7124.41UniSTS
Stanford-G3 RH Map75884.0UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71114.5UniSTS
GeneMap99-G3 RH Map75884.0UniSTS
RH79960  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,666,560 - 120,666,717UniSTSGRCh37
Build 367120,453,796 - 120,453,953RGDNCBI36
Celera7115,476,098 - 115,476,255RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,029,799 - 115,029,956UniSTS
CRA_TCAGchr7v27120,061,673 - 120,061,830UniSTS
SHGC-84541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,935,543 - 120,935,814UniSTSGRCh37
Build 367120,722,779 - 120,723,050RGDNCBI36
Celera7115,744,730 - 115,745,001RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,298,732 - 115,299,003UniSTS
CRA_TCAGchr7v27120,330,284 - 120,330,555UniSTS
TNG Radiation Hybrid Map754265.0UniSTS
SHGC-84445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,803,455 - 120,803,732UniSTSGRCh37
Build 367120,590,691 - 120,590,968RGDNCBI36
Celera7115,612,949 - 115,613,226RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,166,664 - 115,166,941UniSTS
CRA_TCAGchr7v27120,198,522 - 120,198,799UniSTS
TNG Radiation Hybrid Map754220.0UniSTS
SHGC-106523  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,811,480 - 120,811,778UniSTSGRCh37
Build 367120,598,716 - 120,599,014RGDNCBI36
Celera7115,620,973 - 115,621,271RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,174,689 - 115,174,987UniSTS
CRA_TCAGchr7v27120,206,545 - 120,206,843UniSTS
TNG Radiation Hybrid Map754245.0UniSTS
SHGC-148273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,780,341 - 120,780,638UniSTSGRCh37
Build 367120,567,577 - 120,567,874RGDNCBI36
Celera7115,589,835 - 115,590,132RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,143,561 - 115,143,858UniSTS
CRA_TCAGchr7v27120,175,418 - 120,175,715UniSTS
TNG Radiation Hybrid Map754211.0UniSTS
RH78359  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,937,302 - 120,937,449UniSTSGRCh37
Build 367120,724,538 - 120,724,685RGDNCBI36
Celera7115,746,489 - 115,746,636RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,300,491 - 115,300,638UniSTS
CRA_TCAGchr7v27120,332,043 - 120,332,190UniSTS
GeneMap99-GB4 RH Map7560.54UniSTS
NCBI RH Map71123.3UniSTS
D7S1649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,703,291 - 120,703,401UniSTSGRCh37
Build 367120,490,527 - 120,490,637RGDNCBI36
Celera7115,512,798 - 115,512,908RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,066,497 - 115,066,607UniSTS
CRA_TCAGchr7v27120,098,371 - 120,098,481UniSTS
D7S1668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,918,770 - 120,918,892UniSTSGRCh37
Build 367120,706,006 - 120,706,128RGDNCBI36
Celera7115,727,951 - 115,728,073RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,281,920 - 115,282,042UniSTS
CRA_TCAGchr7v27120,313,509 - 120,313,631UniSTS
GDB:1317304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,923,622 - 120,923,686UniSTSGRCh37
Build 367120,710,858 - 120,710,922RGDNCBI36
Celera7115,732,810 - 115,732,874RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,286,780 - 115,286,844UniSTS
CRA_TCAGchr7v27120,318,364 - 120,318,428UniSTS
D7S1470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377120,644,640 - 120,644,716UniSTSGRCh37
Build 367120,431,876 - 120,431,952RGDNCBI36
Celera7115,454,163 - 115,454,239RGD
Cytogenetic Map7q31.31UniSTS
HuRef7115,007,862 - 115,007,938UniSTS
CRA_TCAGchr7v27120,039,737 - 120,039,813UniSTS
D7S643  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q31.31UniSTS
Marshfield Genetic Map7125.15UniSTS
Genethon Genetic Map7126.3UniSTS
deCODE Assembly Map7124.41UniSTS
Whitehead-YAC Contig Map7 UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1084 1336 207 68 87 68 1738 694 404 70 591 413 2 728 1278 1
Low 1259 1037 1488 538 767 381 2383 1466 1564 296 772 1038 164 476 1494 3
Below cutoff 73 607 23 15 868 15 218 32 1742 50 82 123 5 16

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001105533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY780785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI496654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ082412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000310396   ⟹   ENSP00000309772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,988,711 - 121,297,442 (+)Ensembl
RefSeq Acc Id: ENST00000340646   ⟹   ENSP00000345235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,988,697 - 121,050,868 (+)Ensembl
RefSeq Acc Id: ENST00000423795   ⟹   ENSP00000415573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7121,062,765 - 121,261,918 (+)Ensembl
RefSeq Acc Id: ENST00000428526   ⟹   ENSP00000398082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,989,051 - 121,133,893 (+)Ensembl
RefSeq Acc Id: ENST00000443817   ⟹   ENSP00000391952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7121,076,578 - 121,136,054 (+)Ensembl
RefSeq Acc Id: ENST00000450913   ⟹   ENSP00000406122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,989,599 - 121,261,799 (+)Ensembl
RefSeq Acc Id: ENST00000466055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7121,149,556 - 121,261,831 (+)Ensembl
RefSeq Acc Id: ENST00000495036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,989,175 - 121,052,013 (+)Ensembl
RefSeq Acc Id: ENST00000520801   ⟹   ENSP00000428504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7120,989,799 - 121,097,815 (+)Ensembl
RefSeq Acc Id: ENST00000521774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7121,015,744 - 121,050,442 (+)Ensembl
RefSeq Acc Id: NM_001105533   ⟹   NP_001099003
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,989,391 - 121,261,918 (+)NCBI
GRCh377120,628,751 - 120,937,498 (+)RGD
Build 367120,416,681 - 120,689,208 (+)NCBI Archive
Celera7115,438,272 - 115,746,685 (+)RGD
HuRef7114,991,976 - 115,300,687 (+)ENTREZGENE
CHM1_17120,562,759 - 120,835,217 (+)NCBI
T2T-CHM13v2.07122,304,737 - 122,577,309 (+)NCBI
CRA_TCAGchr7v27120,023,845 - 120,332,239 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_024913   ⟹   NP_079189
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,988,711 - 121,297,442 (+)NCBI
GRCh377120,628,751 - 120,937,498 (+)RGD
Build 367120,415,987 - 120,724,734 (+)NCBI Archive
Celera7115,438,272 - 115,746,685 (+)RGD
HuRef7114,991,976 - 115,300,687 (+)ENTREZGENE
CHM1_17120,562,065 - 120,870,800 (+)NCBI
T2T-CHM13v2.07122,304,057 - 122,612,831 (+)NCBI
CRA_TCAGchr7v27120,023,845 - 120,332,239 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_024446941   ⟹   XP_024302709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,989,391 - 121,297,442 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420856   ⟹   XP_047276812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,988,711 - 121,261,918 (+)NCBI
RefSeq Acc Id: XM_047420857   ⟹   XP_047276813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,988,711 - 121,245,560 (+)NCBI
RefSeq Acc Id: XM_054359053   ⟹   XP_054215028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,304,737 - 122,612,831 (+)NCBI
RefSeq Acc Id: XM_054359054   ⟹   XP_054215029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,304,057 - 122,577,309 (+)NCBI
RefSeq Acc Id: XM_054359055   ⟹   XP_054215030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07122,304,057 - 122,571,521 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001099003 (Get FASTA)   NCBI Sequence Viewer  
  NP_079189 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302709 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276812 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276813 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215030 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A4D0V7 (Get FASTA)   NCBI Sequence Viewer  
  AAH30538 (Get FASTA)   NCBI Sequence Viewer  
  AAH46360 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88587 (Get FASTA)   NCBI Sequence Viewer  
  AAS02027 (Get FASTA)   NCBI Sequence Viewer  
  AAV98355 (Get FASTA)   NCBI Sequence Viewer  
  BAB15198 (Get FASTA)   NCBI Sequence Viewer  
  BAB70974 (Get FASTA)   NCBI Sequence Viewer  
  BAF82667 (Get FASTA)   NCBI Sequence Viewer  
  CAD89953 (Get FASTA)   NCBI Sequence Viewer  
  CAD89961 (Get FASTA)   NCBI Sequence Viewer  
  EAL24348 (Get FASTA)   NCBI Sequence Viewer  
  EAW83550 (Get FASTA)   NCBI Sequence Viewer  
  EAW83551 (Get FASTA)   NCBI Sequence Viewer  
  EAW83552 (Get FASTA)   NCBI Sequence Viewer  
  EAW83553 (Get FASTA)   NCBI Sequence Viewer  
  EAW83554 (Get FASTA)   NCBI Sequence Viewer  
  EAW83555 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000309772
  ENSP00000309772.5
  ENSP00000345235.5
  ENSP00000391952.1
  ENSP00000398082.1
  ENSP00000406122
  ENSP00000406122.2
  ENSP00000415573.1
  ENSP00000428504.1
Reference Protein Sequences
RefSeq Acc Id: NP_079189   ⟸   NM_024913
- Peptide Label: isoform 1 precursor
- UniProtKB: Q8N2T5 (UniProtKB/Swiss-Prot),   Q86T84 (UniProtKB/Swiss-Prot),   Q86T76 (UniProtKB/Swiss-Prot),   Q6UXT1 (UniProtKB/Swiss-Prot),   A8K1R3 (UniProtKB/Swiss-Prot),   Q96NC9 (UniProtKB/Swiss-Prot),   A4D0V7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001099003   ⟸   NM_001105533
- Peptide Label: isoform 2 precursor
- UniProtKB: A4D0V7 (UniProtKB/Swiss-Prot),   Q9H6Q5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302709   ⟸   XM_024446941
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000415573   ⟸   ENST00000423795
RefSeq Acc Id: ENSP00000406122   ⟸   ENST00000450913
RefSeq Acc Id: ENSP00000398082   ⟸   ENST00000428526
RefSeq Acc Id: ENSP00000428504   ⟸   ENST00000520801
RefSeq Acc Id: ENSP00000309772   ⟸   ENST00000310396
RefSeq Acc Id: ENSP00000391952   ⟸   ENST00000443817
RefSeq Acc Id: ENSP00000345235   ⟸   ENST00000340646
RefSeq Acc Id: XP_047276812   ⟸   XM_047420856
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047276813   ⟸   XM_047420857
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215029   ⟸   XM_054359054
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215030   ⟸   XM_054359055
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215028   ⟸   XM_054359053
- Peptide Label: isoform X1
Protein Domains
Cadherin-like beta sandwich

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A4D0V7-F1-model_v2 AlphaFold A4D0V7 1-1026 view protein structure

Promoters
RGD ID:6805346
Promoter ID:HG_KWN:59471
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000340646,   NM_001105533,   OTTHUMT00000346959,   OTTHUMT00000346960,   OTTHUMT00000346961,   UC003VJR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367120,415,246 - 120,416,547 (+)MPROMDB
RGD ID:6805350
Promoter ID:HG_KWN:59474
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000346962,   UC010LKK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367120,503,621 - 120,504,121 (+)MPROMDB
RGD ID:7211785
Promoter ID:EPDNEW_H11639
Type:initiation region
Name:CPED1_5
Description:cadherin like and PC-esterase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11640  EPDNEW_H11641  EPDNEW_H11643  EPDNEW_H11642  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,988,510 - 120,988,570EPDNEW
RGD ID:7211787
Promoter ID:EPDNEW_H11640
Type:initiation region
Name:CPED1_1
Description:cadherin like and PC-esterase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11639  EPDNEW_H11641  EPDNEW_H11643  EPDNEW_H11642  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,988,739 - 120,988,799EPDNEW
RGD ID:7211789
Promoter ID:EPDNEW_H11641
Type:initiation region
Name:CPED1_4
Description:cadherin like and PC-esterase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11639  EPDNEW_H11640  EPDNEW_H11643  EPDNEW_H11642  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387120,989,205 - 120,989,265EPDNEW
RGD ID:7211795
Promoter ID:EPDNEW_H11642
Type:multiple initiation site
Name:CPED1_3
Description:cadherin like and PC-esterase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11639  EPDNEW_H11640  EPDNEW_H11641  EPDNEW_H11643  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387121,062,867 - 121,062,927EPDNEW
RGD ID:7211793
Promoter ID:EPDNEW_H11643
Type:initiation region
Name:CPED1_2
Description:cadherin like and PC-esterase domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11639  EPDNEW_H11640  EPDNEW_H11641  EPDNEW_H11642  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387121,076,578 - 121,076,638EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26159 AgrOrtholog
COSMIC CPED1 COSMIC
Ensembl Genes ENSG00000106034 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310396 ENTREZGENE
  ENST00000310396.10 UniProtKB/Swiss-Prot
  ENST00000340646.9 UniProtKB/TrEMBL
  ENST00000423795.5 UniProtKB/TrEMBL
  ENST00000428526.5 UniProtKB/TrEMBL
  ENST00000443817.1 UniProtKB/TrEMBL
  ENST00000450913 ENTREZGENE
  ENST00000450913.6 UniProtKB/Swiss-Prot
  ENST00000520801.5 UniProtKB/TrEMBL
Gene3D-CATH ATP-grasp fold, B domain UniProtKB/TrEMBL
GTEx ENSG00000106034 GTEx
HGNC ID HGNC:26159 ENTREZGENE
Human Proteome Map CPED1 Human Proteome Map
InterPro Cadherin-like_b_sandwich UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79974 UniProtKB/Swiss-Prot
NCBI Gene 79974 ENTREZGENE
OMIM 620637 OMIM
PANTHER CADHERIN-LIKE AND PC-ESTERASE DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  CADHERIN-LIKE AND PC-ESTERASE DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  CADHERIN-LIKE AND PC-ESTERASE DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  CADHERIN-LIKE AND PC-ESTERASE DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
Pfam Cadherin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162380636 PharmGKB
UniProt A4D0V7 ENTREZGENE
  A8K1R3 ENTREZGENE
  CPED1_HUMAN UniProtKB/Swiss-Prot
  E7ENG7_HUMAN UniProtKB/TrEMBL
  E9PCC8_HUMAN UniProtKB/TrEMBL
  G5E9U2_HUMAN UniProtKB/TrEMBL
  H0YB19_HUMAN UniProtKB/TrEMBL
  Q5MJQ4_HUMAN UniProtKB/TrEMBL
  Q6UXT1 ENTREZGENE
  Q86T76 ENTREZGENE
  Q86T84 ENTREZGENE
  Q8N2T5 ENTREZGENE
  Q96NC9 ENTREZGENE
  Q9H6Q5 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A024R765 UniProtKB/TrEMBL
  A8K1R3 UniProtKB/Swiss-Prot
  Q6UXT1 UniProtKB/Swiss-Prot
  Q86T76 UniProtKB/Swiss-Prot
  Q86T84 UniProtKB/Swiss-Prot
  Q8N2T5 UniProtKB/Swiss-Prot
  Q96NC9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 CPED1  cadherin like and PC-esterase domain containing 1    cadherin-like and PC-esterase domain containing 1  Symbol and/or name change 5135510 APPROVED
2012-06-19 CPED1  cadherin-like and PC-esterase domain containing 1  C7orf58  chromosome 7 open reading frame 58  Symbol and/or name change 5135510 APPROVED