CPEB2 (cytoplasmic polyadenylation element binding protein 2) - Rat Genome Database

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Gene: CPEB2 (cytoplasmic polyadenylation element binding protein 2) Homo sapiens
Analyze
Symbol: CPEB2
Name: cytoplasmic polyadenylation element binding protein 2
RGD ID: 1316707
HGNC Page HGNC:21745
Description: Enables RNA binding activity. Involved in cellular response to hypoxia; cellular response to insulin stimulus; and negative regulation of cytoplasmic translation. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CPE-binding protein 2; CPE-BP2; CPEB-2; cytoplasmic polyadenylation element-binding protein 2; hCPEB-2; MGC119575; MGC119576; MGC119577
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
GRCh38415,002,481 - 15,070,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl415,002,481 - 15,070,153 (+)EnsemblGRCh38hg38GRCh38
GRCh37415,004,105 - 15,071,775 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36414,614,620 - 14,680,872 (+)NCBINCBI36Build 36hg18NCBI36
Celera415,469,162 - 15,536,022 (+)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef414,355,088 - 14,422,584 (+)NCBIHuRef
CHM1_1415,002,283 - 15,069,765 (+)NCBICHM1_1
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
aconitic acid  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bromobenzene  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (EXP,ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (ISO)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
mercury dibromide  (EXP)
methotrexate  (EXP,ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zoledronic acid  (EXP)

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:12477932   PMID:12672660   PMID:14702039   PMID:15489334   PMID:18752464   PMID:20639532   PMID:21873635   PMID:22157746   PMID:22658674   PMID:22681889   PMID:26304115   PMID:26398195  
PMID:26446990   PMID:26496610   PMID:28302487   PMID:28460469   PMID:29395067   PMID:29507755   PMID:29987050   PMID:31138601   PMID:31185986   PMID:31586073   PMID:31616934   PMID:32344865  
PMID:32440535   PMID:33961781   PMID:34133714   PMID:34362680   PMID:36064747   PMID:37231521   PMID:38158431  


Genomics

Comparative Map Data
CPEB2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38415,002,481 - 15,070,151 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl415,002,481 - 15,070,153 (+)EnsemblGRCh38hg38GRCh38
GRCh37415,004,105 - 15,071,775 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36414,614,620 - 14,680,872 (+)NCBINCBI36Build 36hg18NCBI36
Celera415,469,162 - 15,536,022 (+)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef414,355,088 - 14,422,584 (+)NCBIHuRef
CHM1_1415,002,283 - 15,069,765 (+)NCBICHM1_1
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBIT2T-CHM13v2.0
Cpeb2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39543,382,692 - 43,447,067 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl543,390,513 - 43,447,067 (+)EnsemblGRCm39 Ensembl
GRCm38543,225,349 - 43,289,724 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl543,233,170 - 43,289,724 (+)EnsemblGRCm38mm10GRCm38
MGSCv37543,624,702 - 43,680,963 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36543,522,207 - 43,574,438 (+)NCBIMGSCv36mm8
Celera540,646,207 - 40,718,936 (+)NCBICelera
Cytogenetic Map5B3NCBI
cM Map523.65NCBI
Cpeb2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81471,999,958 - 72,056,012 (-)NCBIGRCr8
mRatBN7.21467,787,503 - 67,839,973 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1467,787,507 - 67,840,743 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01472,327,929 - 72,382,519 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1472,331,705 - 72,380,330 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01472,356,390 - 72,408,723 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41472,955,778 - 73,007,518 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11472,958,170 - 73,009,889 (-)NCBI
Celera1466,739,757 - 66,794,869 (-)NCBICelera
Cytogenetic Map14q21NCBI
Cpeb2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554808,853,449 - 8,906,859 (-)NCBIChiLan1.0ChiLan1.0
CPEB2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2315,272,455 - 15,339,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1415,470,336 - 15,537,786 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v049,431,573 - 9,499,036 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1414,732,309 - 14,800,069 (+)NCBIpanpan1.1PanPan1.1panPan2
CPEB2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1365,200,175 - 65,277,353 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl365,203,759 - 65,267,967 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha367,717,257 - 67,785,783 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0365,792,581 - 65,861,000 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl365,794,192 - 65,861,000 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1365,167,715 - 65,236,072 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0365,371,886 - 65,440,166 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0365,731,829 - 65,800,251 (-)NCBIUU_Cfam_GSD_1.0
Cpeb2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528559,025,633 - 59,097,078 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493647712,727,325 - 12,798,733 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CPEB2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl810,401,350 - 10,472,136 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1810,401,350 - 10,472,141 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.289,970,709 - 10,009,656 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.289,816,503 - 9,826,023 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CPEB2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12735,143,510 - 35,209,851 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2735,147,299 - 35,209,649 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604781,889,358 - 81,956,667 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cpeb2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475516,732,561 - 16,791,108 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CPEB2
91 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 4p15.33-15.31(chr4:14061129-20121834)x1 copy number loss See cases [RCV000051220] Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31
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 4p15.33-15.31(chr4:14659764-18274924)x3 copy number gain See cases [RCV000051769] Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31
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 4p16.3-15.2(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 4p16.3-15.32(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
NM_001177381.1(CPEB2):c.1823C>T (p.Ser608Phe) single nucleotide variant Malignant melanoma [RCV000060924] Chr4:15007465 [GRCh38]
Chr4:15009089 [GRCh37]
Chr4:14618187 [NCBI36]
Chr4:4p15.32
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 4p16.3-15.32(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 4p16.3-15.32(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 4p16.3-15.31(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 4p16.3-15.31(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 4p16.3-15.32(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 4p16.3-15.31(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
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 4p16.3-15.1(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 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
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 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-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-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_001177382.2(CPEB2):c.961C>G (p.Leu321Val) single nucleotide variant not specified [RCV004308732] Chr4:15003634 [GRCh38]
Chr4:15005258 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1457G>A (p.Gly486Asp) single nucleotide variant not specified [RCV004312114] Chr4:15004130 [GRCh38]
Chr4:15005754 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2776C>T (p.Pro926Ser) single nucleotide variant not specified [RCV004307473] Chr4:15062159 [GRCh38]
Chr4:15063783 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.203C>T (p.Pro68Leu) single nucleotide variant not specified [RCV004309756] Chr4:15002876 [GRCh38]
Chr4:15004500 [GRCh37]
Chr4:4p15.32
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 4p16.3-11(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
t(1;4)(p21;p11)dn translocation not specified [RCV000714262] Chr1:76761062..76761067 [GRCh37]
Chr4:15048773..15048777 [GRCh37]
Chr1:1p31.1
Chr4:4p15.33
uncertain significance
GRCh37/hg19 4p15.33(chr4:14929433-15112646)x3 copy number gain not provided [RCV000743416] Chr4:14929433..15112646 [GRCh37]
Chr4:4p15.33
benign
GRCh37/hg19 4p15.33(chr4:14985172-15006757)x0 copy number loss not provided [RCV000743417] Chr4:14985172..15006757 [GRCh37]
Chr4:4p15.33
benign
GRCh37/hg19 4p15.33(chr4:15003403-15006757)x0 copy number loss not provided [RCV000743418] Chr4:15003403..15006757 [GRCh37]
Chr4:4p15.33
benign
GRCh37/hg19 4p15.33(chr4:15004280-15006757)x0 copy number loss not provided [RCV000743419] Chr4:15004280..15006757 [GRCh37]
Chr4:4p15.33
benign
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 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1
pathogenic
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2
uncertain significance
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
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 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
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
NM_001177382.2(CPEB2):c.962T>G (p.Leu321Arg) single nucleotide variant not specified [RCV004610987] Chr4:15003635 [GRCh38]
Chr4:15005259 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1920T>G (p.Asn640Lys) single nucleotide variant not specified [RCV004610989] Chr4:15007562 [GRCh38]
Chr4:15009186 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2429A>C (p.Lys810Thr) single nucleotide variant not specified [RCV004610991] Chr4:15054185 [GRCh38]
Chr4:15055809 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.959C>G (p.Pro320Arg) single nucleotide variant not specified [RCV004610992] Chr4:15003632 [GRCh38]
Chr4:15005256 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1528C>G (p.Gln510Glu) single nucleotide variant not specified [RCV004610994] Chr4:15004201 [GRCh38]
Chr4:15005825 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1765G>A (p.Gly589Arg) single nucleotide variant not specified [RCV004610995] Chr4:15007407 [GRCh38]
Chr4:15009031 [GRCh37]
Chr4:4p15.32
uncertain significance
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 4p16.1-15.32(chr4:9577432-16223471)x3 copy number gain not provided [RCV001834299] Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32
likely pathogenic
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 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
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
NM_001177382.2(CPEB2):c.1496C>T (p.Pro499Leu) single nucleotide variant not specified [RCV004098134] Chr4:15004169 [GRCh38]
Chr4:15005793 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1144C>T (p.Pro382Ser) single nucleotide variant not specified [RCV004136234] Chr4:15003817 [GRCh38]
Chr4:15005441 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.635C>T (p.Pro212Leu) single nucleotide variant not specified [RCV004156443] Chr4:15003308 [GRCh38]
Chr4:15004932 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.359A>G (p.Asp120Gly) single nucleotide variant not specified [RCV004136843] Chr4:15003032 [GRCh38]
Chr4:15004656 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.548G>A (p.Ser183Asn) single nucleotide variant not specified [RCV004188939] Chr4:15003221 [GRCh38]
Chr4:15004845 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1103G>C (p.Gly368Ala) single nucleotide variant not specified [RCV004111905] Chr4:15003776 [GRCh38]
Chr4:15005400 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.905C>T (p.Ala302Val) single nucleotide variant not specified [RCV004139072] Chr4:15003578 [GRCh38]
Chr4:15005202 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.235G>C (p.Ala79Pro) single nucleotide variant not specified [RCV004091082] Chr4:15002908 [GRCh38]
Chr4:15004532 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1100G>A (p.Gly367Glu) single nucleotide variant not specified [RCV004158851] Chr4:15003773 [GRCh38]
Chr4:15005397 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1331A>C (p.Asp444Ala) single nucleotide variant not specified [RCV004109720] Chr4:15004004 [GRCh38]
Chr4:15005628 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.50G>A (p.Ser17Asn) single nucleotide variant not specified [RCV004101663] Chr4:15002723 [GRCh38]
Chr4:15004347 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.218C>A (p.Ala73Glu) single nucleotide variant not specified [RCV004225385] Chr4:15002891 [GRCh38]
Chr4:15004515 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1436C>T (p.Pro479Leu) single nucleotide variant not specified [RCV004146056] Chr4:15004109 [GRCh38]
Chr4:15005733 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1562C>T (p.Pro521Leu) single nucleotide variant not specified [RCV004139586] Chr4:15004235 [GRCh38]
Chr4:15005859 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2090T>C (p.Ile697Thr) single nucleotide variant not specified [RCV004141893] Chr4:15017243 [GRCh38]
Chr4:15018867 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.599C>T (p.Pro200Leu) single nucleotide variant not specified [RCV004093395] Chr4:15003272 [GRCh38]
Chr4:15004896 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.208G>A (p.Gly70Ser) single nucleotide variant not specified [RCV004204415] Chr4:15002881 [GRCh38]
Chr4:15004505 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1090G>C (p.Gly364Arg) single nucleotide variant not specified [RCV004226496] Chr4:15003763 [GRCh38]
Chr4:15005387 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.893A>C (p.Asn298Thr) single nucleotide variant not specified [RCV004218599] Chr4:15003566 [GRCh38]
Chr4:15005190 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.223A>T (p.Ser75Cys) single nucleotide variant not specified [RCV004232371] Chr4:15002896 [GRCh38]
Chr4:15004520 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.531G>C (p.Gln177His) single nucleotide variant not specified [RCV004194631] Chr4:15003204 [GRCh38]
Chr4:15004828 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.949C>T (p.Pro317Ser) single nucleotide variant not specified [RCV004151706] Chr4:15003622 [GRCh38]
Chr4:15005246 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.833G>A (p.Gly278Asp) single nucleotide variant not specified [RCV004202075] Chr4:15003506 [GRCh38]
Chr4:15005130 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1755T>G (p.His585Gln) single nucleotide variant not specified [RCV004123725] Chr4:15007397 [GRCh38]
Chr4:15009021 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1185G>C (p.Gln395His) single nucleotide variant not specified [RCV004152221] Chr4:15003858 [GRCh38]
Chr4:15005482 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.209G>C (p.Gly70Ala) single nucleotide variant not specified [RCV004234485] Chr4:15002882 [GRCh38]
Chr4:15004506 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2972A>G (p.Asn991Ser) single nucleotide variant not specified [RCV004198586] Chr4:15066247 [GRCh38]
Chr4:15067871 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1762A>G (p.Thr588Ala) single nucleotide variant not specified [RCV004193773] Chr4:15007404 [GRCh38]
Chr4:15009028 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.781C>G (p.Leu261Val) single nucleotide variant not specified [RCV004225618] Chr4:15003454 [GRCh38]
Chr4:15005078 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1513A>C (p.Met505Leu) single nucleotide variant not specified [RCV004213186] Chr4:15004186 [GRCh38]
Chr4:15005810 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.218C>G (p.Ala73Gly) single nucleotide variant not specified [RCV004097121] Chr4:15002891 [GRCh38]
Chr4:15004515 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1181C>G (p.Pro394Arg) single nucleotide variant not specified [RCV004128850] Chr4:15003854 [GRCh38]
Chr4:15005478 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.428G>C (p.Ser143Thr) single nucleotide variant not specified [RCV004124972] Chr4:15003101 [GRCh38]
Chr4:15004725 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1393T>C (p.Phe465Leu) single nucleotide variant not specified [RCV004091985] Chr4:15004066 [GRCh38]
Chr4:15005690 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.844C>A (p.Pro282Thr) single nucleotide variant not specified [RCV004168802] Chr4:15003517 [GRCh38]
Chr4:15005141 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2123A>C (p.Lys708Thr) single nucleotide variant not specified [RCV004175148] Chr4:15017276 [GRCh38]
Chr4:15018900 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.859G>T (p.Ala287Ser) single nucleotide variant not specified [RCV004244369] Chr4:15003532 [GRCh38]
Chr4:15005156 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1186C>G (p.Gln396Glu) single nucleotide variant not specified [RCV004151030] Chr4:15003859 [GRCh38]
Chr4:15005483 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.629C>T (p.Pro210Leu) single nucleotide variant not specified [RCV004199366] Chr4:15003302 [GRCh38]
Chr4:15004926 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1553C>T (p.Pro518Leu) single nucleotide variant not specified [RCV004087975] Chr4:15004226 [GRCh38]
Chr4:15005850 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.80C>T (p.Ala27Val) single nucleotide variant not specified [RCV004221239] Chr4:15002753 [GRCh38]
Chr4:15004377 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2719C>T (p.Arg907Trp) single nucleotide variant not specified [RCV004085617] Chr4:15062102 [GRCh38]
Chr4:15063726 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2530G>A (p.Asp844Asn) single nucleotide variant not specified [RCV004091948] Chr4:15058489 [GRCh38]
Chr4:15060113 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14
pathogenic
NM_001177382.2(CPEB2):c.1987C>T (p.Leu663Phe) single nucleotide variant not specified [RCV004317486] Chr4:15008380 [GRCh38]
Chr4:15010004 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.695C>T (p.Pro232Leu) single nucleotide variant not specified [RCV004330919] Chr4:15003368 [GRCh38]
Chr4:15004992 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1471C>T (p.Pro491Ser) single nucleotide variant not specified [RCV004258702] Chr4:15004144 [GRCh38]
Chr4:15005768 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1391G>C (p.Ser464Thr) single nucleotide variant not specified [RCV004258363] Chr4:15004064 [GRCh38]
Chr4:15005688 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1704T>G (p.Ser568Arg) single nucleotide variant not specified [RCV004279051] Chr4:15007346 [GRCh38]
Chr4:15008970 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1861A>G (p.Thr621Ala) single nucleotide variant not specified [RCV004256140] Chr4:15007503 [GRCh38]
Chr4:15009127 [GRCh37]
Chr4:4p15.32
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
NM_001177382.2(CPEB2):c.622T>C (p.Phe208Leu) single nucleotide variant not specified [RCV004319599] Chr4:15003295 [GRCh38]
Chr4:15004919 [GRCh37]
Chr4:4p15.32
uncertain significance
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_001177382.2(CPEB2):c.814C>T (p.Pro272Ser) single nucleotide variant not specified [RCV004363364] Chr4:15003487 [GRCh38]
Chr4:15005111 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.495C>A (p.Asp165Glu) single nucleotide variant not specified [RCV004356101] Chr4:15003168 [GRCh38]
Chr4:15004792 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 copy number loss not provided [RCV003485415] Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2
likely pathogenic
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
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_001177382.2(CPEB2):c.1081C>A (p.Pro361Thr) single nucleotide variant not specified [RCV004374399] Chr4:15003754 [GRCh38]
Chr4:15005378 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1856G>A (p.Arg619His) single nucleotide variant not specified [RCV004374405] Chr4:15007498 [GRCh38]
Chr4:15009122 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2086C>G (p.Leu696Val) single nucleotide variant not specified [RCV004374406] Chr4:15017239 [GRCh38]
Chr4:15018863 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.223A>C (p.Ser75Arg) single nucleotide variant not specified [RCV004374407] Chr4:15002896 [GRCh38]
Chr4:15004520 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.262G>T (p.Ala88Ser) single nucleotide variant not specified [RCV004374409] Chr4:15002935 [GRCh38]
Chr4:15004559 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.29A>G (p.Gln10Arg) single nucleotide variant not specified [RCV004374410] Chr4:15002702 [GRCh38]
Chr4:15004326 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.527G>A (p.Ser176Asn) single nucleotide variant not specified [RCV004374412] Chr4:15003200 [GRCh38]
Chr4:15004824 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.652C>T (p.Leu218Phe) single nucleotide variant not specified [RCV004374413] Chr4:15003325 [GRCh38]
Chr4:15004949 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.719A>T (p.His240Leu) single nucleotide variant not specified [RCV004374414] Chr4:15003392 [GRCh38]
Chr4:15005016 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.848G>T (p.Arg283Leu) single nucleotide variant not specified [RCV004374416] Chr4:15003521 [GRCh38]
Chr4:15005145 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.863C>T (p.Ala288Val) single nucleotide variant not specified [RCV004374418] Chr4:15003536 [GRCh38]
Chr4:15005160 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.919G>A (p.Val307Met) single nucleotide variant not specified [RCV004374419] Chr4:15003592 [GRCh38]
Chr4:15005216 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1225C>T (p.Pro409Ser) single nucleotide variant not specified [RCV004374400] Chr4:15003898 [GRCh38]
Chr4:15005522 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1678T>A (p.Ser560Thr) single nucleotide variant not specified [RCV004374404] Chr4:15007320 [GRCh38]
Chr4:15008944 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1367C>A (p.Ser456Tyr) single nucleotide variant not specified [RCV004374403] Chr4:15004040 [GRCh38]
Chr4:15005664 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.338C>T (p.Ala113Val) single nucleotide variant not specified [RCV004374411] Chr4:15003011 [GRCh38]
Chr4:15004635 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2467G>T (p.Ala823Ser) single nucleotide variant not specified [RCV004374408] Chr4:15058426 [GRCh38]
Chr4:15060050 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.841A>G (p.Ser281Gly) single nucleotide variant not specified [RCV004374415] Chr4:15003514 [GRCh38]
Chr4:15005138 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.509AGC[5] (p.Gln173_Leu174insGln) microsatellite not provided [RCV003885584] Chr4:15003179..15003180 [GRCh38]
Chr4:15004803..15004804 [GRCh37]
Chr4:4p15.32
benign
NM_001177382.2(CPEB2):c.1247A>C (p.Gln416Pro) single nucleotide variant not specified [RCV004374401] Chr4:15003920 [GRCh38]
Chr4:15005544 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1248G>C (p.Gln416His) single nucleotide variant not specified [RCV004374402] Chr4:15003921 [GRCh38]
Chr4:15005545 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.856C>G (p.Pro286Ala) single nucleotide variant not specified [RCV004374417] Chr4:15003529 [GRCh38]
Chr4:15005153 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_2357152)_(15176083_?)del deletion not provided [RCV004580846] Chr4:2357152..15176083 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
NM_001177382.2(CPEB2):c.269A>T (p.Gln90Leu) single nucleotide variant not specified [RCV004610997] Chr4:15002942 [GRCh38]
Chr4:15004566 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.473G>A (p.Cys158Tyr) single nucleotide variant not specified [RCV004610988] Chr4:15003146 [GRCh38]
Chr4:15004770 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.1073G>A (p.Gly358Asp) single nucleotide variant not specified [RCV004610990] Chr4:15003746 [GRCh38]
Chr4:15005370 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.197C>A (p.Ser66Tyr) single nucleotide variant not specified [RCV004610996] Chr4:15002870 [GRCh38]
Chr4:15004494 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.2422C>T (p.Pro808Ser) single nucleotide variant not specified [RCV004610998] Chr4:15054178 [GRCh38]
Chr4:15055802 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_001177382.2(CPEB2):c.712C>G (p.Leu238Val) single nucleotide variant not specified [RCV004610999] Chr4:15003385 [GRCh38]
Chr4:15005009 [GRCh37]
Chr4:4p15.32
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCRFunctional MTI20660482
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCRFunctional MTI20660482
MIR92A2hsa-miR-92a-3pMirtarbaseexternal_infoLuciferase reporter assay//Northern blot//qRT-PCRFunctional MTI20660482

Predicted Target Of
Summary Value
Count of predictions:10285
Count of miRNA genes:850
Interacting mature miRNAs:1057
Transcripts:ENST00000259997, ENST00000345451, ENST00000382395, ENST00000382401, ENST00000442003, ENST00000503926, ENST00000507071, ENST00000509684, ENST00000538197, ENST00000541112
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597348986GWAS1445060_Hbody height QTL GWAS1445060 (human)2e-25body height (VT:0001253)body height (CMO:0000106)41504713315047134Human
597111190GWAS1207264_Hself reported educational attainment QTL GWAS1207264 (human)4e-10self reported educational attainment41505662115056622Human
597200174GWAS1296248_Hbone density QTL GWAS1296248 (human)3e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)41504141115041412Human
597465467GWAS1561541_Hself reported educational attainment QTL GWAS1561541 (human)6e-10self reported educational attainment41505748115057482Human
597500565GWAS1596639_Hlow density lipoprotein cholesterol measurement QTL GWAS1596639 (human)5e-09low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)41502641915026420Human
597533573GWAS1629647_Hbone density QTL GWAS1629647 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)41503382615033827Human
597369863GWAS1465937_Hresponse to mepolizumab, Glucocorticoid use measurement QTL GWAS1465937 (human)0.000004response to mepolizumab, Glucocorticoid use measurement41503521115035212Human
597116699GWAS1212773_Hself reported educational attainment QTL GWAS1212773 (human)3e-09self reported educational attainment41505662115056622Human
597047593GWAS1143667_Hcardiovascular disease QTL GWAS1143667 (human)2e-09cardiovascular disease41501956115019562Human
597389140GWAS1485214_Hsusceptibility to mononucleosis measurement QTL GWAS1485214 (human)0.000007susceptibility to mononucleosis measurement41502250915022510Human

Markers in Region
WI-14109  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,008,938 - 15,009,087UniSTSGRCh37
Build 36414,618,036 - 14,618,185RGDNCBI36
Celera415,473,189 - 15,473,338RGD
Cytogenetic Map4p15.33UniSTS
HuRef414,359,740 - 14,359,889UniSTS
GeneMap99-GB4 RH Map471.54UniSTS
Whitehead-RH Map483.2UniSTS
G59401  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,037,108 - 15,037,414UniSTSGRCh37
Build 36414,646,206 - 14,646,512RGDNCBI36
Celera415,501,353 - 15,501,659RGD
Cytogenetic Map4p15.33UniSTS
HuRef414,387,915 - 14,388,221UniSTS
CPEB2_4624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,071,155 - 15,071,907UniSTSGRCh37
Build 36414,680,253 - 14,681,005RGDNCBI36
Celera415,535,400 - 15,536,152RGD
HuRef414,421,962 - 14,422,714UniSTS
SHGC-67785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,014,608 - 15,014,791UniSTSGRCh37
Build 36414,623,706 - 14,623,889RGDNCBI36
Celera415,478,859 - 15,479,042RGD
Cytogenetic Map4p15.33UniSTS
HuRef414,365,414 - 14,365,597UniSTS
GeneMap99-GB4 RH Map476.51UniSTS
G34337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,033,042 - 15,033,232UniSTSGRCh37
Build 36414,642,140 - 14,642,330RGDNCBI36
Celera415,497,286 - 15,497,476RGD
Cytogenetic Map4p15.33UniSTS
HuRef414,383,849 - 14,384,039UniSTS
SHGC-67263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,066,061 - 15,066,185UniSTSGRCh37
Build 36414,675,159 - 14,675,283RGDNCBI36
Celera415,530,306 - 15,530,430RGD
Cytogenetic Map4p15.33UniSTS
HuRef414,416,868 - 14,416,992UniSTS
GeneMap99-GB4 RH Map472.1UniSTS
SHGC-67966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,006,956 - 15,007,118UniSTSGRCh37
Build 36414,616,054 - 14,616,216RGDNCBI36
Celera415,471,207 - 15,471,369RGD
Cytogenetic Map4p15.33UniSTS
HuRef414,357,758 - 14,357,920UniSTS
GeneMap99-GB4 RH Map468.68UniSTS
MARC_12073-12074:1004623170:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,060,081 - 15,060,877UniSTSGRCh37
Build 36414,669,179 - 14,669,975RGDNCBI36
Celera415,524,326 - 15,525,122RGD
HuRef414,410,888 - 14,411,684UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4973 1725 2347 5 623 1949 464 2270 7298 6467 52 3733 1 852 1742 1614 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001177381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054348931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC098829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY247744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY255519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI857384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU854092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000345451   ⟹   ENSP00000334058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,002,674 - 15,066,626 (+)Ensembl
Ensembl Acc Id: ENST00000382395   ⟹   ENSP00000371832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,002,674 - 15,070,151 (+)Ensembl
Ensembl Acc Id: ENST00000382401   ⟹   ENSP00000371838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,002,674 - 15,070,151 (+)Ensembl
Ensembl Acc Id: ENST00000442003   ⟹   ENSP00000414270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,002,674 - 15,070,153 (+)Ensembl
Ensembl Acc Id: ENST00000503926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,007,367 - 15,017,434 (+)Ensembl
Ensembl Acc Id: ENST00000507071   ⟹   ENSP00000424084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,002,674 - 15,066,626 (+)Ensembl
Ensembl Acc Id: ENST00000509684   ⟹   ENSP00000423890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,054,133 - 15,063,871 (+)Ensembl
Ensembl Acc Id: ENST00000538197   ⟹   ENSP00000443985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,002,481 - 15,070,151 (+)Ensembl
RefSeq Acc Id: NM_001177381   ⟹   NP_001170852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
GRCh37415,004,298 - 15,071,777 (+)RGD
Celera415,469,162 - 15,536,022 (+)RGD
HuRef414,355,088 - 14,422,584 (+)RGD
CHM1_1415,002,283 - 15,069,765 (+)NCBI
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177382   ⟹   NP_001170853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
GRCh37415,004,298 - 15,071,777 (+)RGD
Celera415,469,162 - 15,536,022 (+)RGD
HuRef414,355,088 - 14,422,584 (+)RGD
CHM1_1415,002,283 - 15,069,765 (+)NCBI
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177383   ⟹   NP_001170854
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
GRCh37415,004,298 - 15,071,777 (+)RGD
Celera415,469,162 - 15,536,022 (+)RGD
HuRef414,355,088 - 14,422,584 (+)RGD
CHM1_1415,002,283 - 15,069,765 (+)NCBI
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177384   ⟹   NP_001170855
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
GRCh37415,004,298 - 15,071,777 (+)RGD
Celera415,469,162 - 15,536,022 (+)RGD
HuRef414,355,088 - 14,422,584 (+)RGD
CHM1_1415,002,283 - 15,069,765 (+)NCBI
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182485   ⟹   NP_872291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
GRCh37415,004,298 - 15,071,777 (+)RGD
GRCh37415,004,298 - 15,071,777 (+)NCBI
Build 36414,614,620 - 14,680,872 (+)NCBI Archive
Celera415,469,162 - 15,536,022 (+)RGD
HuRef414,355,088 - 14,422,584 (+)RGD
CHM1_1415,002,283 - 15,069,765 (+)NCBI
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_182646   ⟹   NP_872587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
GRCh37415,004,298 - 15,071,777 (+)RGD
Build 36414,614,620 - 14,680,872 (+)NCBI Archive
Celera415,469,162 - 15,536,022 (+)RGD
HuRef414,355,088 - 14,422,584 (+)RGD
CHM1_1415,002,283 - 15,069,765 (+)NCBI
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005248135   ⟹   XP_005248192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513777   ⟹   XP_011512079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,070,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513778   ⟹   XP_011512080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,033,211 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513779   ⟹   XP_011512081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,002,481 - 15,017,181 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007733   ⟹   XP_016863222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,004,845 - 15,070,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007734   ⟹   XP_016863223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,004,498 - 15,070,151 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047449609   ⟹   XP_047305565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,027,514 - 15,070,151 (+)NCBI
RefSeq Acc Id: XM_054348925   ⟹   XP_054204900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
RefSeq Acc Id: XM_054348926   ⟹   XP_054204901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0414,984,261 - 15,051,932 (+)NCBI
RefSeq Acc Id: XM_054348927   ⟹   XP_054204902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0414,984,261 - 15,014,992 (+)NCBI
RefSeq Acc Id: XM_054348928   ⟹   XP_054204903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0414,984,261 - 14,998,961 (+)NCBI
RefSeq Acc Id: XM_054348929   ⟹   XP_054204904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0414,986,278 - 15,051,932 (+)NCBI
RefSeq Acc Id: XM_054348930   ⟹   XP_054204905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0414,986,625 - 15,051,932 (+)NCBI
RefSeq Acc Id: XM_054348931   ⟹   XP_054204906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,009,294 - 15,051,932 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001170852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001170853 (Get FASTA)   NCBI Sequence Viewer  
  NP_001170854 (Get FASTA)   NCBI Sequence Viewer  
  NP_001170855 (Get FASTA)   NCBI Sequence Viewer  
  NP_872291 (Get FASTA)   NCBI Sequence Viewer  
  NP_872587 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248192 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512079 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512080 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512081 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863222 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863223 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305565 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204900 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204901 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204902 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204903 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204904 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204905 (Get FASTA)   NCBI Sequence Viewer  
  XP_054204906 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI03940 (Get FASTA)   NCBI Sequence Viewer  
  AAI03941 (Get FASTA)   NCBI Sequence Viewer  
  AAI03942 (Get FASTA)   NCBI Sequence Viewer  
  AAI03943 (Get FASTA)   NCBI Sequence Viewer  
  AAI05926 (Get FASTA)   NCBI Sequence Viewer  
  AAP37585 (Get FASTA)   NCBI Sequence Viewer  
  AAP41553 (Get FASTA)   NCBI Sequence Viewer  
  CAE45860 (Get FASTA)   NCBI Sequence Viewer  
  EAW92727 (Get FASTA)   NCBI Sequence Viewer  
  EAW92728 (Get FASTA)   NCBI Sequence Viewer  
  EAW92729 (Get FASTA)   NCBI Sequence Viewer  
  EAW92730 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000334058
  ENSP00000334058.4
  ENSP00000371832
  ENSP00000371832.4
  ENSP00000371838
  ENSP00000371838.4
  ENSP00000414270
  ENSP00000414270.2
  ENSP00000423890.1
  ENSP00000424084
  ENSP00000424084.2
  ENSP00000443985
  ENSP00000443985.1
GenBank Protein Q7Z5Q1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_872291   ⟸   NM_182485
- Peptide Label: isoform B
- UniProtKB: A0A5K1VW93 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_872587   ⟸   NM_182646
- Peptide Label: isoform A
- UniProtKB: A0A5K1VW61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001170852   ⟸   NM_001177381
- Peptide Label: isoform C
- UniProtKB: Q7Z5Q1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001170853   ⟸   NM_001177382
- Peptide Label: isoform D
- UniProtKB: Q7Z5Q1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001170854   ⟸   NM_001177383
- Peptide Label: isoform E
- UniProtKB: A0A5K1VW71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001170855   ⟸   NM_001177384
- Peptide Label: isoform F
- UniProtKB: A0A5K1VW79 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248192   ⟸   XM_005248135
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011512079   ⟸   XM_011513777
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011512080   ⟸   XM_011513778
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011512081   ⟸   XM_011513779
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016863223   ⟸   XM_017007734
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016863222   ⟸   XM_017007733
- Peptide Label: isoform X5
- Sequence:
Ensembl Acc Id: ENSP00000334058   ⟸   ENST00000345451
Ensembl Acc Id: ENSP00000424084   ⟸   ENST00000507071
Ensembl Acc Id: ENSP00000423890   ⟸   ENST00000509684
Ensembl Acc Id: ENSP00000414270   ⟸   ENST00000442003
Ensembl Acc Id: ENSP00000443985   ⟸   ENST00000538197
Ensembl Acc Id: ENSP00000371832   ⟸   ENST00000382395
Ensembl Acc Id: ENSP00000371838   ⟸   ENST00000382401
RefSeq Acc Id: XP_047305565   ⟸   XM_047449609
- Peptide Label: isoform X6
- UniProtKB: A0A590UJI5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054204900   ⟸   XM_054348925
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054204901   ⟸   XM_054348926
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054204902   ⟸   XM_054348927
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054204903   ⟸   XM_054348928
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054204904   ⟸   XM_054348929
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054204905   ⟸   XM_054348930
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054204906   ⟸   XM_054348931
- Peptide Label: isoform X6
- UniProtKB: A0A590UJI5 (UniProtKB/TrEMBL)
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z5Q1-F1-model_v2 AlphaFold Q7Z5Q1 1-589 view protein structure

Promoters
RGD ID:6802165
Promoter ID:HG_KWN:47901
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000382391,   NM_001177381,   NM_001177382,   NM_001177383,   NM_001177384,   NM_182485,   NM_182646,   UC003GNG.2,   UC003GNH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36414,612,706 - 14,615,527 (+)MPROMDB
RGD ID:6867060
Promoter ID:EPDNEW_H6695
Type:initiation region
Name:CPEB2_1
Description:cytoplasmic polyadenylation element binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,003,828 - 15,003,888EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21745 AgrOrtholog
COSMIC CPEB2 COSMIC
Ensembl Genes ENSG00000137449 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345451 ENTREZGENE
  ENST00000345451.8 UniProtKB/TrEMBL
  ENST00000382395 ENTREZGENE
  ENST00000382395.8 UniProtKB/TrEMBL
  ENST00000382401 ENTREZGENE
  ENST00000382401.8 UniProtKB/TrEMBL
  ENST00000442003 ENTREZGENE
  ENST00000442003.6 UniProtKB/Swiss-Prot
  ENST00000507071 ENTREZGENE
  ENST00000507071.6 UniProtKB/TrEMBL
  ENST00000509684.1 UniProtKB/TrEMBL
  ENST00000538197 ENTREZGENE
  ENST00000538197.7 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.640.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137449 GTEx
HGNC ID HGNC:21745 ENTREZGENE
Human Proteome Map CPEB2 Human Proteome Map
InterPro CEBP_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CEBP_ZZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPEB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:132864 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 132864 ENTREZGENE
OMIM 610605 OMIM
PANTHER CYTOPLASMIC POLYADENYLATION ELEMENT-BINDING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12566 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CEBP_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134864048 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJI5 ENTREZGENE
  A0A5K1VW61 ENTREZGENE, UniProtKB/TrEMBL
  A0A5K1VW71 ENTREZGENE, UniProtKB/TrEMBL
  A0A5K1VW79 ENTREZGENE, UniProtKB/TrEMBL
  A0A5K1VW93 ENTREZGENE, UniProtKB/TrEMBL
  CPEB2_HUMAN UniProtKB/Swiss-Prot
  H0Y9D9_HUMAN UniProtKB/TrEMBL
  Q7Z5Q1 ENTREZGENE
UniProt Secondary E7EPM3 UniProtKB/Swiss-Prot
  F5H160 UniProtKB/Swiss-Prot
  Q3B8N6 UniProtKB/Swiss-Prot
  Q3MI89 UniProtKB/Swiss-Prot
  Q3MI90 UniProtKB/Swiss-Prot
  Q3MI92 UniProtKB/Swiss-Prot
  Q7Z5Q0 UniProtKB/Swiss-Prot