CENPE (centromere protein E) - Rat Genome Database

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Gene: CENPE (centromere protein E) Homo sapiens
Analyze
Symbol: CENPE
Name: centromere protein E
RGD ID: 1316119
HGNC Page HGNC
Description: Enables kinetochore binding activity; microtubule binding activity; and microtubule motor activity. Involved in several processes, including kinetochore assembly; mitotic sister chromatid segregation; and regulation of mitotic metaphase/anaphase transition. Located in several cellular components, including kinetochore; midbody; and spindle. Implicated in primary autosomal recessive microcephaly 13.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CENP-E; Centromere autoantigen E (312kD); centromere protein E, 312kDa; centromere-associated protein E; KIF10; kinesin family member 10; kinesin-7; kinesin-related protein CENPE; MCPH13; PPP1R61; protein phosphatase 1, regulatory subunit 61
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4103,105,349 - 103,198,445 (-)EnsemblGRCh38hg38GRCh38
GRCh384103,105,811 - 103,198,408 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374104,026,968 - 104,119,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,246,412 - 104,339,015 (-)NCBINCBI36hg18NCBI36
Build 344104,384,807 - 104,477,170NCBI
Celera4101,324,102 - 101,416,733 (-)NCBI
Cytogenetic Map4q24NCBI
HuRef499,760,728 - 99,853,482 (-)NCBIHuRef
CHM1_14104,003,436 - 104,096,014 (-)NCBICHM1_1
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
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
avobenzone  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-carotene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chloroethene  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper(II) sulfate  (EXP,ISO)
coumestrol  (EXP)
cyclosporin A  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (EXP)
geraniol  (EXP)
heptachlor  (ISO)
hydrazine  (ISO)
irinotecan  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
Licochalcone B  (EXP)
lucanthone  (EXP)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
mirex  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosomorpholine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nicotine  (EXP)
O-methyleugenol  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
permethrin  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (EXP,ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
Senkirkine  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1406971   PMID:2022189   PMID:7851898   PMID:7889940   PMID:9363944   PMID:9391217   PMID:9744883   PMID:9763420   PMID:9914370   PMID:10477750   PMID:10852915   PMID:11084331  
PMID:11337467   PMID:11682612   PMID:12686615   PMID:12925705   PMID:14684825   PMID:15146197   PMID:15159587   PMID:15181147   PMID:15236970   PMID:15297875   PMID:15843429   PMID:16144904  
PMID:16565220   PMID:16682006   PMID:16926026   PMID:17081983   PMID:17268814   PMID:17535814   PMID:18029348   PMID:18342609   PMID:18374647   PMID:18460473   PMID:19389623   PMID:19465021  
PMID:19525938   PMID:19553660   PMID:19625775   PMID:19723035   PMID:19733075   PMID:19779646   PMID:19946888   PMID:20021663   PMID:20085233   PMID:20237434   PMID:20332099   PMID:20354862  
PMID:20360068   PMID:20691903   PMID:21282530   PMID:21873635   PMID:22110139   PMID:22307330   PMID:22637578   PMID:22801780   PMID:22974711   PMID:23236152   PMID:23314748   PMID:23666240  
PMID:23740391   PMID:23891108   PMID:23955301   PMID:24748105   PMID:24920822   PMID:24928852   PMID:25383660   PMID:25395579   PMID:25743205   PMID:25908662   PMID:25918224   PMID:26167880  
PMID:26258632   PMID:26321640   PMID:26344197   PMID:26496610   PMID:26638075   PMID:26816005   PMID:26933822   PMID:27694884   PMID:27735937   PMID:27835888   PMID:28514442   PMID:28718761  
PMID:28883622   PMID:28916652   PMID:29293652   PMID:29507755   PMID:29676528   PMID:29748388   PMID:30021884   PMID:30264192   PMID:30655516   PMID:30716092   PMID:30745168   PMID:31115500  
PMID:31122175   PMID:31174204   PMID:31586073   PMID:31881483   PMID:32807901   PMID:32877691   PMID:33361741   PMID:33645531   PMID:33742057   PMID:34079125  


Genomics

Comparative Map Data
CENPE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4103,105,349 - 103,198,445 (-)EnsemblGRCh38hg38GRCh38
GRCh384103,105,811 - 103,198,408 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374104,026,968 - 104,119,500 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364104,246,412 - 104,339,015 (-)NCBINCBI36hg18NCBI36
Build 344104,384,807 - 104,477,170NCBI
Celera4101,324,102 - 101,416,733 (-)NCBI
Cytogenetic Map4q24NCBI
HuRef499,760,728 - 99,853,482 (-)NCBIHuRef
CHM1_14104,003,436 - 104,096,014 (-)NCBICHM1_1
Cenpe
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393134,918,324 - 134,979,301 (+)NCBIGRCm39mm39
GRCm39 Ensembl3134,918,298 - 134,979,372 (+)Ensembl
GRCm383135,212,563 - 135,273,540 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3135,212,537 - 135,273,611 (+)EnsemblGRCm38mm10GRCm38
MGSCv373134,875,527 - 134,936,504 (+)NCBIGRCm37mm9NCBIm37
MGSCv363135,150,046 - 135,210,626 (+)NCBImm8
Celera3141,624,886 - 141,686,752 (+)NCBICelera
Cytogenetic Map3G3NCBI
cM Map362.55NCBI
Cenpe
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22223,637,035 - 223,695,692 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2223,636,998 - 223,695,669 (+)Ensembl
Rnor_6.02240,395,974 - 240,454,785 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2240,396,152 - 240,454,747 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02258,915,861 - 258,974,288 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42232,699,627 - 232,758,329 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12232,710,935 - 232,745,069 (+)NCBI
Celera2215,851,430 - 215,910,100 (+)NCBICelera
Cytogenetic Map2q43NCBI
Cenpe
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554965,469,239 - 5,513,574 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554965,468,759 - 5,514,915 (+)NCBIChiLan1.0ChiLan1.0
CENPE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14106,185,283 - 106,277,229 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4106,185,283 - 106,277,229 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0495,562,005 - 95,654,397 (-)NCBIMhudiblu_PPA_v0panPan3
CENPE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13224,447,373 - 24,530,407 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3224,447,358 - 24,530,382 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3217,493,941 - 17,576,730 (+)NCBI
ROS_Cfam_1.03224,666,991 - 24,749,806 (-)NCBI
UMICH_Zoey_3.13224,747,174 - 24,766,742 (-)NCBI
UNSW_CanFamBas_1.03224,427,319 - 24,510,138 (-)NCBI
UU_Cfam_GSD_1.03215,352,573 - 15,435,369 (+)NCBI
Cenpe
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530116,845,104 - 16,922,570 (+)NCBI
SpeTri2.0NW_004936520188,601 - 265,904 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CENPE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8117,889,009 - 117,965,792 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18117,888,968 - 117,965,325 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28126,761,254 - 126,838,996 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CENPE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1751,212,266 - 51,300,153 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603729,724,191 - 29,812,118 (-)NCBIVero_WHO_p1.0
Cenpe
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248304,930,533 - 4,986,437 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-23104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,119,676 - 104,119,820UniSTSGRCh37
Build 364104,339,125 - 104,339,269RGDNCBI36
Celera4101,416,843 - 101,416,987RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,853,592 - 99,853,736UniSTS
SHGC-50720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,099,717 - 104,099,810UniSTSGRCh37
Build 364104,319,166 - 104,319,259RGDNCBI36
Celera4101,396,884 - 101,396,977RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,833,633 - 99,833,726UniSTS
RH123874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,056,903 - 104,057,223UniSTSGRCh37
Build 364104,276,352 - 104,276,672RGDNCBI36
Celera4101,354,070 - 101,354,390RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,790,710 - 99,791,030UniSTS
D4S2810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,027,204 - 104,027,378UniSTSGRCh37
Build 364104,246,653 - 104,246,827RGDNCBI36
Celera4101,324,343 - 101,324,517RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,760,969 - 99,761,143UniSTS
GeneMap99-GB4 RH Map4494.25UniSTS
Whitehead-RH Map4533.9UniSTS
Whitehead-YAC Contig Map4 UniSTS
GeneMap99-G3 RH Map49287.0UniSTS
STS-Z15005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,027,292 - 104,027,452UniSTSGRCh37
Build 364104,246,741 - 104,246,901RGDNCBI36
Celera4101,324,431 - 101,324,591RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,761,057 - 99,761,217UniSTS
GeneMap99-GB4 RH Map4489.89UniSTS
SHGC-23114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,120,033 - 104,120,125UniSTSGRCh37
Build 364104,339,482 - 104,339,574RGDNCBI36
Celera4101,417,200 - 101,417,292RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,853,949 - 99,854,041UniSTS
SHGC-10601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,099,765 - 104,099,971UniSTSGRCh37
Build 364104,319,214 - 104,319,420RGDNCBI36
Celera4101,396,932 - 101,397,138RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,833,681 - 99,833,887UniSTS
STS-H95785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374104,103,964 - 104,104,157UniSTSGRCh37
Build 364104,323,413 - 104,323,606RGDNCBI36
Celera4101,401,131 - 101,401,324RGD
Cytogenetic Map4q24-q25UniSTS
HuRef499,837,880 - 99,838,073UniSTS
GeneMap99-GB4 RH Map4489.89UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:625
Count of miRNA genes:376
Interacting mature miRNAs:403
Transcripts:ENST00000265148, ENST00000380026, ENST00000503705, ENST00000509120, ENST00000509823, ENST00000514974, ENST00000515478
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 116 12 40 29 624 31 256 55 91 65 193 214 9 2
Low 1256 459 335 183 603 130 1692 375 409 147 754 607 58 1 500 796 3 1
Below cutoff 1067 2507 1339 401 719 294 2402 1753 3224 203 510 790 108 704 1987

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_041798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA210728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA210858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL596934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU100312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW499901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ231878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ434767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD644410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN418651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI573938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z15005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265148   ⟹   ENSP00000265148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,105,811 - 103,198,343 (-)Ensembl
RefSeq Acc Id: ENST00000380026   ⟹   ENSP00000369365
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,105,349 - 103,198,445 (-)Ensembl
RefSeq Acc Id: ENST00000509120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,177,040 - 103,181,963 (-)Ensembl
RefSeq Acc Id: ENST00000509823   ⟹   ENSP00000499964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,116,364 - 103,120,333 (-)Ensembl
RefSeq Acc Id: ENST00000514974   ⟹   ENSP00000426023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,194,251 - 103,198,349 (-)Ensembl
RefSeq Acc Id: ENST00000515478
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,145,303 - 103,145,781 (-)Ensembl
RefSeq Acc Id: ENST00000611174   ⟹   ENSP00000483542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4103,106,047 - 103,198,409 (-)Ensembl
RefSeq Acc Id: NM_001286734   ⟹   NP_001273663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,343 (-)NCBI
HuRef499,760,728 - 99,853,482 (-)NCBI
CHM1_14104,003,436 - 104,096,014 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001813   ⟹   NP_001804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,343 (-)NCBI
GRCh374104,026,963 - 104,119,566 (-)ENTREZGENE
GRCh374104,026,963 - 104,119,566 (-)NCBI
Build 364104,246,412 - 104,339,015 (-)NCBI Archive
HuRef499,760,728 - 99,853,482 (-)ENTREZGENE
CHM1_14104,003,436 - 104,096,014 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531544   ⟹   XP_011529846
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,402 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531545   ⟹   XP_011529847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531546   ⟹   XP_011529848
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,398 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531547   ⟹   XP_011529849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531548   ⟹   XP_011529850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531549   ⟹   XP_011529851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,408 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007659   ⟹   XP_016863148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384103,105,811 - 103,198,408 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001804   ⟸   NM_001813
- Peptide Label: isoform 1 precursor
- UniProtKB: Q02224 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273663   ⟸   NM_001286734
- Peptide Label: isoform 2
- UniProtKB: Q02224 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529846   ⟸   XM_011531544
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011529848   ⟸   XM_011531546
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529851   ⟸   XM_011531549
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011529847   ⟸   XM_011531545
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529850   ⟸   XM_011531548
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529849   ⟸   XM_011531547
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016863148   ⟸   XM_017007659
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000483542   ⟸   ENST00000611174
RefSeq Acc Id: ENSP00000499964   ⟸   ENST00000509823
RefSeq Acc Id: ENSP00000369365   ⟸   ENST00000380026
RefSeq Acc Id: ENSP00000426023   ⟸   ENST00000514974
RefSeq Acc Id: ENSP00000265148   ⟸   ENST00000265148
Protein Domains
Kinesin motor

Promoters
RGD ID:6868180
Promoter ID:EPDNEW_H7255
Type:initiation region
Name:CENPE_1
Description:centromere protein E
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
GRCh384103,198,343 - 103,198,403EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
NM_001813.2(CENPE):c.7150C>T (p.Arg2384Ter) single nucleotide variant Malignant melanoma [RCV000066227] Chr4:103120327 [GRCh38]
Chr4:104041484 [GRCh37]
Chr4:104260933 [NCBI36]
Chr4:4q24
not provided
NM_001813.2(CENPE):c.3252G>A (p.Gln1084=) single nucleotide variant Malignant melanoma [RCV000066228] Chr4:103151363 [GRCh38]
Chr4:104072520 [GRCh37]
Chr4:104291969 [NCBI36]
Chr4:4q24
not provided
NM_001813.2(CENPE):c.2310C>T (p.Leu770=) single nucleotide variant Malignant melanoma [RCV000066229] Chr4:103159301 [GRCh38]
Chr4:104080458 [GRCh37]
Chr4:104299907 [NCBI36]
Chr4:4q24
not provided
NM_001286734.1(CENPE):c.2211+421G>A single nucleotide variant Lung cancer [RCV000093906] Chr4:103160204 [GRCh38]
Chr4:104081361 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.8008C>T (p.Pro2670Ser) single nucleotide variant not provided [RCV001310493] Chr4:103108806 [GRCh38]
Chr4:104029963 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV000144849]|not provided [RCV000413895] Chr4:103158691 [GRCh38]
Chr4:104079848 [GRCh37]
Chr4:4q24
pathogenic|likely pathogenic
NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV000144850] Chr4:103147427 [GRCh38]
Chr4:104068584 [GRCh37]
Chr4:4q24
pathogenic
NM_001813.3(CENPE):c.6907T>A (p.Phe2303Ile) single nucleotide variant not specified [RCV000202908] Chr4:103132710 [GRCh38]
Chr4:104053867 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4204A>G (p.Ile1402Val) single nucleotide variant not provided [RCV000514886] Chr4:103146038 [GRCh38]
Chr4:104067195 [GRCh37]
Chr4:4q24
benign|likely benign
GRCh37/hg19 4q24(chr4:104035661-104119449)x3 copy number gain Ductal breast carcinoma [RCV000207149] Chr4:104035661..104119449 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.7222C>A (p.Gln2408Lys) single nucleotide variant not provided [RCV000883171]|not specified [RCV000351907] Chr4:103120255 [GRCh38]
Chr4:104041412 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5146-223G>C single nucleotide variant not provided [RCV001547699] Chr4:103143629 [GRCh38]
Chr4:104064786 [GRCh37]
Chr4:4q24
likely benign
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
NM_001813.3(CENPE):c.1520A>G (p.Tyr507Cys) single nucleotide variant not provided [RCV000442018] Chr4:103174863 [GRCh38]
Chr4:104096020 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.6974C>G (p.Ser2325Cys) single nucleotide variant not provided [RCV000442078] Chr4:103123040 [GRCh38]
Chr4:104044197 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.367A>G (p.Arg123Gly) single nucleotide variant not provided [RCV000498902] Chr4:103195224 [GRCh38]
Chr4:104116381 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.7886G>A (p.Arg2629Gln) single nucleotide variant not specified [RCV000501740] Chr4:103108928 [GRCh38]
Chr4:104030085 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.5563C>T (p.Gln1855Ter) single nucleotide variant not specified [RCV000501937] Chr4:103141005 [GRCh38]
Chr4:104062162 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.4995G>A (p.Thr1665=) single nucleotide variant not specified [RCV000504258] Chr4:103144481 [GRCh38]
Chr4:104065638 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.435C>T (p.Gly145=) single nucleotide variant not provided [RCV000898575]|not specified [RCV000499474] Chr4:103195156 [GRCh38]
Chr4:104116313 [GRCh37]
Chr4:4q24
likely benign
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
NM_001813.3(CENPE):c.304C>T (p.His102Tyr) single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001333973]|not provided [RCV000585510]|not specified [RCV000499930] Chr4:103195973 [GRCh38]
Chr4:104117130 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.184G>A (p.Val62Met) single nucleotide variant not provided [RCV000498191] Chr4:103196217 [GRCh38]
Chr4:104117374 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser) single nucleotide variant not provided [RCV000969475]|not specified [RCV000502675] Chr4:103148938 [GRCh38]
Chr4:104070095 [GRCh37]
Chr4:4q24
likely benign|uncertain significance
NM_001813.3(CENPE):c.7602C>T (p.Ser2534=) single nucleotide variant not provided [RCV000962860]|not specified [RCV000500703] Chr4:103110950 [GRCh38]
Chr4:104032107 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.1566A>G (p.Glu522=) single nucleotide variant not specified [RCV000502867] Chr4:103174817 [GRCh38]
Chr4:104095974 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4791A>C (p.Arg1597Ser) single nucleotide variant not provided [RCV000952897]|not specified [RCV000500899] Chr4:103145116 [GRCh38]
Chr4:104066273 [GRCh37]
Chr4:4q24
likely benign|uncertain significance
NM_001813.3(CENPE):c.5137A>G (p.Ile1713Val) single nucleotide variant not specified [RCV000503136] Chr4:103144339 [GRCh38]
Chr4:104065496 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.767G>A (p.Cys256Tyr) single nucleotide variant not provided [RCV000492883] Chr4:103183267 [GRCh38]
Chr4:104104424 [GRCh37]
Chr4:4q24
likely pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
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
NM_001813.3(CENPE):c.1487T>C (p.Ile496Thr) single nucleotide variant not provided [RCV000513305] Chr4:103174896 [GRCh38]
Chr4:104096053 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.869G>A (p.Arg290Gln) single nucleotide variant not provided [RCV000658441] Chr4:103182856 [GRCh38]
Chr4:104104013 [GRCh37]
Chr4:4q24
uncertain significance
GRCh37/hg19 4q24(chr4:103846070-104693179)x3 copy number gain not provided [RCV000682438] Chr4:103846070..104693179 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.3788C>G (p.Ala1263Gly) single nucleotide variant Autistic disorder of childhood onset [RCV000722088] Chr4:103148899 [GRCh38]
Chr4:104070056 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.694-271T>A single nucleotide variant not provided [RCV001567959] Chr4:103186132 [GRCh38]
Chr4:104107289 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5464-316del deletion not provided [RCV001574661] Chr4:103141420 [GRCh38]
Chr4:104062577 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1391-215G>A single nucleotide variant not provided [RCV001571111] Chr4:103176263 [GRCh38]
Chr4:104097420 [GRCh37]
Chr4:4q24
likely 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 4q24(chr4:104012365-104117353)x3 copy number gain not provided [RCV000743881] Chr4:104012365..104117353 [GRCh37]
Chr4:4q24
benign
GRCh37/hg19 4q24(chr4:104030085-104137790)x3 copy number gain not provided [RCV000743882] Chr4:104030085..104137790 [GRCh37]
Chr4:4q24
benign
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
NM_001813.3(CENPE):c.1842+145C>T single nucleotide variant not provided [RCV001540598] Chr4:103162992 [GRCh38]
Chr4:104084149 [GRCh37]
Chr4:4q24
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001679030] Chr4:103151164 [GRCh38]
Chr4:104072321 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001585013] Chr4:103195827 [GRCh38]
Chr4:104116984 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6721-5C>T single nucleotide variant not provided [RCV000938316] Chr4:103132901 [GRCh38]
Chr4:104054058 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5146-285G>A single nucleotide variant not provided [RCV001535245] Chr4:103143691 [GRCh38]
Chr4:104064848 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001585306] Chr4:103195480 [GRCh38]
Chr4:104116637 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001579291]|not provided [RCV001597319] Chr4:103138385 [GRCh38]
Chr4:104059542 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.5145+114G>T single nucleotide variant not provided [RCV001574934] Chr4:103144217 [GRCh38]
Chr4:104065374 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5305-239T>C single nucleotide variant not provided [RCV001574560] Chr4:103142147 [GRCh38]
Chr4:104063304 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4134+213C>T single nucleotide variant not provided [RCV001571275] Chr4:103147143 [GRCh38]
Chr4:104068300 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001610895] Chr4:103182740 [GRCh38]
Chr4:104103897 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.6523-197G>A single nucleotide variant not provided [RCV001550665] Chr4:103134089 [GRCh38]
Chr4:104055246 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001667058] Chr4:103196742 [GRCh38]
Chr4:104117899 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001682065] Chr4:103177300..103177312 [GRCh38]
Chr4:104098457..104098469 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.1243-209G>A single nucleotide variant not provided [RCV001577179] Chr4:103177255 [GRCh38]
Chr4:104098412 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1842+115A>G single nucleotide variant not provided [RCV001551147] Chr4:103163022 [GRCh38]
Chr4:104084179 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5145+103C>T single nucleotide variant not provided [RCV001570123] Chr4:103144228 [GRCh38]
Chr4:104065385 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.478-120T>C single nucleotide variant not provided [RCV001566744] Chr4:103194804 [GRCh38]
Chr4:104115961 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001608837] Chr4:103111107 [GRCh38]
Chr4:104032264 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.834-117A>G single nucleotide variant not provided [RCV001575885] Chr4:103183008 [GRCh38]
Chr4:104104165 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001690447] Chr4:103145304 [GRCh38]
Chr4:104066461 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001665928] Chr4:103176704 [GRCh38]
Chr4:104097861 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.7389G>A (p.Lys2463=) single nucleotide variant not provided [RCV000883686] Chr4:103116630 [GRCh38]
Chr4:104037787 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5082G>A (p.Val1694=) single nucleotide variant not provided [RCV000891677] Chr4:103144394 [GRCh38]
Chr4:104065551 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4988T>C (p.Ile1663Thr) single nucleotide variant not provided [RCV000905709] Chr4:103144488 [GRCh38]
Chr4:104065645 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4774A>C (p.Lys1592Gln) single nucleotide variant not provided [RCV000969474] Chr4:103145133 [GRCh38]
Chr4:104066290 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.3529A>T (p.Met1177Leu) single nucleotide variant not provided [RCV000969476] Chr4:103149276 [GRCh38]
Chr4:104070433 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.1912A>G (p.Lys638Glu) single nucleotide variant not provided [RCV000969477] Chr4:103161388 [GRCh38]
Chr4:104082545 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.6240G>A (p.Arg2080=) single nucleotide variant not provided [RCV000975994] Chr4:103138414 [GRCh38]
Chr4:104059571 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1419T>C (p.Ser473=) single nucleotide variant not provided [RCV000903741] Chr4:103176020 [GRCh38]
Chr4:104097177 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4272C>T (p.Leu1424=) single nucleotide variant not provided [RCV000968040] Chr4:103145970 [GRCh38]
Chr4:104067127 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.5789G>A (p.Arg1930His) single nucleotide variant not provided [RCV000972108] Chr4:103140380 [GRCh38]
Chr4:104061537 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.4438A>G (p.Lys1480Glu) single nucleotide variant not provided [RCV000904875] Chr4:103145657 [GRCh38]
Chr4:104066814 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4668T>C (p.His1556=) single nucleotide variant not provided [RCV000929096] Chr4:103145239 [GRCh38]
Chr4:104066396 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.7764G>A (p.Lys2588=) single nucleotide variant not provided [RCV000968039] Chr4:103109050 [GRCh38]
Chr4:104030207 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.984T>C (p.Tyr328=) single nucleotide variant not provided [RCV000917201] Chr4:103181436 [GRCh38]
Chr4:104102593 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1266T>C (p.Thr422=) single nucleotide variant not provided [RCV000895336] Chr4:103177023 [GRCh38]
Chr4:104098180 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4068G>C (p.Thr1356=) single nucleotide variant not provided [RCV000916706] Chr4:103147422 [GRCh38]
Chr4:104068579 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.213C>T (p.Ile71=) single nucleotide variant not provided [RCV000898873] Chr4:103196188 [GRCh38]
Chr4:104117345 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.7827T>G (p.Pro2609=) single nucleotide variant not provided [RCV000922415] Chr4:103108987 [GRCh38]
Chr4:104030144 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5874A>G (p.Gln1958=) single nucleotide variant not provided [RCV000881242] Chr4:103140295 [GRCh38]
Chr4:104061452 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.8049G>A (p.Gln2683=) single nucleotide variant not provided [RCV000931282] Chr4:103106279 [GRCh38]
Chr4:104027436 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.3081A>G (p.Gln1027=) single nucleotide variant not provided [RCV000940481] Chr4:103153203 [GRCh38]
Chr4:104074360 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1723-4T>A single nucleotide variant not provided [RCV000921705] Chr4:103163260 [GRCh38]
Chr4:104084417 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5478G>A (p.Lys1826=) single nucleotide variant not provided [RCV000918350] Chr4:103141090 [GRCh38]
Chr4:104062247 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.358-8del deletion not provided [RCV000893909] Chr4:103195241 [GRCh38]
Chr4:104116398 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.7542G>A (p.Val2514=) single nucleotide variant not provided [RCV000980988] Chr4:103111010 [GRCh38]
Chr4:104032167 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.363T>G (p.Pro121=) single nucleotide variant not provided [RCV000915277] Chr4:103195228 [GRCh38]
Chr4:104116385 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1171A>T (p.Asn391Tyr) single nucleotide variant not provided [RCV000922278] Chr4:103180382 [GRCh38]
Chr4:104101539 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4094A>T (p.His1365Leu) single nucleotide variant not provided [RCV000971504] Chr4:103147396 [GRCh38]
Chr4:104068553 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.5024A>G (p.His1675Arg) single nucleotide variant not provided [RCV000928518] Chr4:103144452 [GRCh38]
Chr4:104065609 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4791A>G (p.Arg1597=) single nucleotide variant not provided [RCV000895292] Chr4:103145116 [GRCh38]
Chr4:104066273 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6165G>A (p.Arg2055=) single nucleotide variant not provided [RCV000884287] Chr4:103139828 [GRCh38]
Chr4:104060985 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.1047A>G (p.Arg349=) single nucleotide variant not provided [RCV000924815] Chr4:103181373 [GRCh38]
Chr4:104102530 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.738C>T (p.Gly246=) single nucleotide variant not provided [RCV000926022] Chr4:103185817 [GRCh38]
Chr4:104106974 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.255T>C (p.Tyr85=) single nucleotide variant not provided [RCV000914866] Chr4:103196022 [GRCh38]
Chr4:104117179 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:103865132-105720367)x1 copy number loss not provided [RCV001005582] Chr4:103865132..105720367 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.4741A>C (p.Ser1581Arg) single nucleotide variant not provided [RCV000962092] Chr4:103145166 [GRCh38]
Chr4:104066323 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.7959A>G (p.Pro2653=) single nucleotide variant not provided [RCV000975392] Chr4:103108855 [GRCh38]
Chr4:104030012 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6435C>G (p.Pro2145=) single nucleotide variant not provided [RCV000914771] Chr4:103136228 [GRCh38]
Chr4:104057385 [GRCh37]
Chr4:4q24
likely benign
GRCh37/hg19 4q24(chr4:104054685-104209157)x3 copy number gain not provided [RCV000849525] Chr4:104054685..104209157 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.6924+199_6924+201del microsatellite not provided [RCV001568509] Chr4:103132492..103132494 [GRCh38]
Chr4:104053649..104053651 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.7442+215A>G single nucleotide variant not provided [RCV001550381] Chr4:103116362 [GRCh38]
Chr4:104037519 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.7442+300GT[15] microsatellite not provided [RCV001569771] Chr4:103116251..103116252 [GRCh38]
Chr4:104037408..104037409 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5146-99G>A single nucleotide variant not provided [RCV001547722] Chr4:103143505 [GRCh38]
Chr4:104064662 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.2601+23A>G single nucleotide variant not provided [RCV001552168] Chr4:103158987 [GRCh38]
Chr4:104080144 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001579158]|not provided [RCV001615341] Chr4:103196034 [GRCh38]
Chr4:104117191 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.6925-37C>T single nucleotide variant not provided [RCV001567680] Chr4:103123126 [GRCh38]
Chr4:104044283 [GRCh37]
Chr4:4q24
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del deletion not provided [RCV001716946] Chr4:103143606 [GRCh38]
Chr4:104064763 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001679140] Chr4:103147134 [GRCh38]
Chr4:104068291 [GRCh37]
Chr4:4q24
benign
null microsatellite not provided [RCV001671709] Chr4:103140689..103140691 [GRCh38]
Chr4:104061846..104061848 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) deletion not provided [RCV001654184] Chr4:103163772..103163775 [GRCh38]
Chr4:104084929..104084932 [GRCh37]
Chr4:4q24
benign
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001707394] Chr4:103133529 [GRCh38]
Chr4:104054686 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) deletion not provided [RCV001592178] Chr4:103144657 [GRCh38]
Chr4:104065814 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001613940] Chr4:103145733 [GRCh38]
Chr4:104066890 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001649809] Chr4:103116251..103116252 [GRCh38]
Chr4:104037408..104037409 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.559+43T>C single nucleotide variant not provided [RCV001571487] Chr4:103194560 [GRCh38]
Chr4:104115717 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.746-258T>C single nucleotide variant not provided [RCV001567831] Chr4:103183546 [GRCh38]
Chr4:104104703 [GRCh37]
Chr4:4q24
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001714243] Chr4:103138666 [GRCh38]
Chr4:104059823 [GRCh37]
Chr4:4q24
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715363] Chr4:103106487 [GRCh38]
Chr4:104027644 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583275] Chr4:103141628 [GRCh38]
Chr4:104062785 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.693+265dup duplication not provided [RCV001547849] Chr4:103193958..103193959 [GRCh38]
Chr4:104115115..104115116 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.2706G>A (p.Thr902=) single nucleotide variant not provided [RCV000982718] Chr4:103158782 [GRCh38]
Chr4:104079939 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5166G>A (p.Glu1722=) single nucleotide variant not provided [RCV000925088] Chr4:103143386 [GRCh38]
Chr4:104064543 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4914G>A (p.Glu1638=) single nucleotide variant not provided [RCV000940598] Chr4:103144562 [GRCh38]
Chr4:104065719 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.7773C>G (p.Thr2591=) single nucleotide variant not provided [RCV000922984] Chr4:103109041 [GRCh38]
Chr4:104030198 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.2287-6C>T single nucleotide variant not provided [RCV000900738] Chr4:103159330 [GRCh38]
Chr4:104080487 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.326C>G (p.Ala109Gly) single nucleotide variant not provided [RCV000972405] Chr4:103195951 [GRCh38]
Chr4:104117108 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.3465A>G (p.Lys1155=) single nucleotide variant not provided [RCV000892268] Chr4:103149340 [GRCh38]
Chr4:104070497 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.5994A>G (p.Glu1998=) single nucleotide variant not provided [RCV000903598] Chr4:103139999 [GRCh38]
Chr4:104061156 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.2949A>G (p.Leu983=) single nucleotide variant not provided [RCV000903740] Chr4:103158384 [GRCh38]
Chr4:104079541 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.628-6A>G single nucleotide variant not provided [RCV000939781] Chr4:103194300 [GRCh38]
Chr4:104115457 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6456T>C (p.Ile2152=) single nucleotide variant not provided [RCV000941741] Chr4:103136207 [GRCh38]
Chr4:104057364 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6928A>G (p.Ile2310Val) single nucleotide variant not provided [RCV000893908] Chr4:103123086 [GRCh38]
Chr4:104044243 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.2172T>C (p.Asp724=) single nucleotide variant not provided [RCV000943214] Chr4:103160739 [GRCh38]
Chr4:104081896 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.3195A>G (p.Glu1065=) single nucleotide variant not provided [RCV000891197] Chr4:103153089 [GRCh38]
Chr4:104074246 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.627+10T>G single nucleotide variant not provided [RCV000911424] Chr4:103194364 [GRCh38]
Chr4:104115521 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4092A>G (p.Lys1364=) single nucleotide variant not provided [RCV000934991] Chr4:103147398 [GRCh38]
Chr4:104068555 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.876C>T (p.Leu292=) single nucleotide variant not provided [RCV000889524] Chr4:103182849 [GRCh38]
Chr4:104104006 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.7551A>G (p.Glu2517=) single nucleotide variant not provided [RCV000934461] Chr4:103111001 [GRCh38]
Chr4:104032158 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.3803C>T (p.Thr1268Ile) single nucleotide variant not provided [RCV000956241] Chr4:103148884 [GRCh38]
Chr4:104070041 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.2551T>G (p.Ser851Ala) single nucleotide variant not provided [RCV000956242] Chr4:103159060 [GRCh38]
Chr4:104080217 [GRCh37]
Chr4:4q24
benign|likely benign
NM_001813.3(CENPE):c.7821G>A (p.Lys2607=) single nucleotide variant not provided [RCV000912335] Chr4:103108993 [GRCh38]
Chr4:104030150 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6798A>G (p.Lys2266=) single nucleotide variant not provided [RCV000889946] Chr4:103132819 [GRCh38]
Chr4:104053976 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.149-27GTT[7] microsatellite not provided [RCV000889960] Chr4:103196256..103196258 [GRCh38]
Chr4:104117413..104117415 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.4716C>T (p.Leu1572=) single nucleotide variant not provided [RCV000956240] Chr4:103145191 [GRCh38]
Chr4:104066348 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.5146-261C>T single nucleotide variant not provided [RCV001545968] Chr4:103143667 [GRCh38]
Chr4:104064824 [GRCh37]
Chr4:4q24
likely benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001579157]|not provided [RCV001713058] Chr4:103161192 [GRCh38]
Chr4:104082349 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys) single nucleotide variant not provided [RCV001567898] Chr4:103136226 [GRCh38]
Chr4:104057383 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.5913+11dup duplication not provided [RCV001567914] Chr4:103140241..103140242 [GRCh38]
Chr4:104061398..104061399 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) microsatellite not provided [RCV001595439] Chr4:103196255..103196256 [GRCh38]
Chr4:104117412..104117413 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.1842+207T>C single nucleotide variant not provided [RCV001558388] Chr4:103162930 [GRCh38]
Chr4:104084087 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4135-115C>G single nucleotide variant not provided [RCV001558762] Chr4:103146222 [GRCh38]
Chr4:104067379 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6303+148G>A single nucleotide variant not provided [RCV001552521] Chr4:103138203 [GRCh38]
Chr4:104059360 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001593787] Chr4:103106248 [GRCh38]
Chr4:104027405 [GRCh37]
Chr4:4q24
likely benign
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) single nucleotide variant not provided [RCV001643973] Chr4:103144892 [GRCh38]
Chr4:104066049 [GRCh37]
Chr4:4q24
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant not provided [RCV001676247] Chr4:103160551 [GRCh38]
Chr4:104081708 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.6925-232G>A single nucleotide variant not provided [RCV001568476] Chr4:103123321 [GRCh38]
Chr4:104044478 [GRCh37]
Chr4:4q24
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001656371] Chr4:103141257 [GRCh38]
Chr4:104062414 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.2286+102_2286+103del deletion not provided [RCV001561525] Chr4:103160522..103160523 [GRCh38]
Chr4:104081679..104081680 [GRCh37]
Chr4:4q24
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) deletion not provided [RCV001659298] Chr4:103108589..103108592 [GRCh38]
Chr4:104029746..104029749 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001636471] Chr4:103140109 [GRCh38]
Chr4:104061266 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001671461] Chr4:103193954 [GRCh38]
Chr4:104115111 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001687026] Chr4:103160451 [GRCh38]
Chr4:104081608 [GRCh37]
Chr4:4q24
benign
Single allele single nucleotide variant not provided [RCV001538236] Chr4:103198430 [GRCh38]
Chr4:104119587 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001595872] Chr4:103160763 [GRCh38]
Chr4:104081920 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001637288] Chr4:103140194 [GRCh38]
Chr4:104061351 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.1391-239A>G single nucleotide variant not provided [RCV001545415] Chr4:103176287 [GRCh38]
Chr4:104097444 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001696388] Chr4:103140836 [GRCh38]
Chr4:104061993 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001689024] Chr4:103163781 [GRCh38]
Chr4:104084938 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001596271] Chr4:103147741 [GRCh38]
Chr4:104068898 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652570] Chr4:103142224 [GRCh38]
Chr4:104063381 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001636128] Chr4:103180566 [GRCh38]
Chr4:104101723 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.5304+257C>T single nucleotide variant not provided [RCV001545241] Chr4:103142991 [GRCh38]
Chr4:104064148 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.694-40A>C single nucleotide variant not provided [RCV001572552] Chr4:103185901 [GRCh38]
Chr4:104107058 [GRCh37]
Chr4:4q24
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001658588] Chr4:103181406 [GRCh38]
Chr4:104102563 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001588313] Chr4:103144225 [GRCh38]
Chr4:104065382 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001598464] Chr4:103185580 [GRCh38]
Chr4:104106737 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) microsatellite not provided [RCV001654383] Chr4:103116251..103116252 [GRCh38]
Chr4:104037408..104037409 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001592361] Chr4:103162888 [GRCh38]
Chr4:104084045 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001695336] Chr4:103139624 [GRCh38]
Chr4:104060781 [GRCh37]
Chr4:4q24
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001715595] Chr4:103139524 [GRCh38]
Chr4:104060681 [GRCh37]
Chr4:4q24
benign
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) microsatellite not provided [RCV001678458] Chr4:103116251..103116252 [GRCh38]
Chr4:104037408..104037409 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001592614] Chr4:103152803 [GRCh38]
Chr4:104073960 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.4573-52G>A single nucleotide variant not provided [RCV001574869] Chr4:103145386 [GRCh38]
Chr4:104066543 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001695884] Chr4:103196062 [GRCh38]
Chr4:104117219 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652690] Chr4:103163370 [GRCh38]
Chr4:104084527 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001586466] Chr4:103138126 [GRCh38]
Chr4:104059283 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001584957] Chr4:103151165 [GRCh38]
Chr4:104072322 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001616682] Chr4:103123372 [GRCh38]
Chr4:104044529 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) microsatellite not provided [RCV001584819] Chr4:103116251..103116252 [GRCh38]
Chr4:104037408..104037409 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001641426] Chr4:103148665 [GRCh38]
Chr4:104069822 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001612463] Chr4:103108582 [GRCh38]
Chr4:104029739 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001667421] Chr4:103194042 [GRCh38]
Chr4:104115199 [GRCh37]
Chr4:4q24
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708730] Chr4:103185886 [GRCh38]
Chr4:104107043 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001611645] Chr4:103135964 [GRCh38]
Chr4:104057121 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583688] Chr4:103138056 [GRCh38]
Chr4:104059213 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001696044] Chr4:103120136 [GRCh38]
Chr4:104041293 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652012] Chr4:103149709 [GRCh38]
Chr4:104070866 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001611709] Chr4:103198417 [GRCh38]
Chr4:104119574 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001685305] Chr4:103140226 [GRCh38]
Chr4:104061383 [GRCh37]
Chr4:4q24
benign
NM_006096.4(NDRG1):c.64-20dup single nucleotide variant not provided [RCV001706992] Chr4:103174906 [GRCh38]
Chr4:104096063 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001649625] Chr4:103140605 [GRCh38]
Chr4:104061762 [GRCh37]
Chr4:4q24
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001579156]|not provided [RCV001713057] Chr4:103141066 [GRCh38]
Chr4:104062223 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001650765] Chr4:103183029..103183030 [GRCh38]
Chr4:104104186..104104187 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001679600] Chr4:103177142 [GRCh38]
Chr4:104098299 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.2132-1G>C single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001199271] Chr4:103160780 [GRCh38]
Chr4:104081937 [GRCh37]
Chr4:4q24
likely pathogenic
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001581267] Chr4:103175049 [GRCh38]
Chr4:104096206 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.833+119T>C single nucleotide variant not provided [RCV001537035] Chr4:103183082 [GRCh38]
Chr4:104104239 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.1722+5G>A single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001332040] Chr4:103163474 [GRCh38]
Chr4:104084631 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.5035G>A (p.Glu1679Lys) single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001332041] Chr4:103144441 [GRCh38]
Chr4:104065598 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.7187G>A (p.Ser2396Asn) single nucleotide variant Primary autosomal recessive microcephaly 13 [RCV001333974] Chr4:103120290 [GRCh38]
Chr4:104041447 [GRCh37]
Chr4:4q24
uncertain significance
NM_001813.3(CENPE):c.6203G>C (p.Arg2068Thr) single nucleotide variant not provided [RCV001310494] Chr4:103139790 [GRCh38]
Chr4:104060947 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.963+204C>A single nucleotide variant not provided [RCV001536281] Chr4:103182558 [GRCh38]
Chr4:104103715 [GRCh37]
Chr4:4q24
likely benign
NM_001813.3(CENPE):c.6522+50C>T single nucleotide variant not provided [RCV001540126] Chr4:103136091 [GRCh38]
Chr4:104057248 [GRCh37]
Chr4:4q24
benign
NM_001813.3(CENPE):c.6205-75del deletion not provided [RCV001540571] Chr4:103138524 [GRCh38]
Chr4:104059681 [GRCh37]
Chr4:4q24
likely benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001681611] Chr4:103198600 [GRCh38]
Chr4:104119757 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001675467] Chr4:103197066 [GRCh38]
Chr4:104118223 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001687712] Chr4:103141914 [GRCh38]
Chr4:104063071 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001593570] Chr4:103196870 [GRCh38]
Chr4:104118027 [GRCh37]
Chr4:4q24
likely benign
null duplication not provided [RCV001695502] Chr4:103147698..103147699 [GRCh38]
Chr4:104068855..104068856 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001584621] Chr4:103161736 [GRCh38]
Chr4:104082893 [GRCh37]
Chr4:4q24
likely benign
null single nucleotide variant not provided [RCV001695556] Chr4:103161681 [GRCh38]
Chr4:104082838 [GRCh37]
Chr4:4q24
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) deletion not provided [RCV001686508] Chr4:103147699 [GRCh38]
Chr4:104068856 [GRCh37]
Chr4:4q24
benign
null microsatellite not provided [RCV001671768] Chr4:103116251..103116252 [GRCh38]
Chr4:104037408..104037409 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001674824] Chr4:103142982 [GRCh38]
Chr4:104064139 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652079] Chr4:103140394 [GRCh38]
Chr4:104061551 [GRCh37]
Chr4:4q24
benign
null single nucleotide variant not provided [RCV001696598] Chr4:103158267 [GRCh38]
Chr4:104079424 [GRCh37]
Chr4:4q24
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001652698] Chr4:103144023 [GRCh38]
Chr4:104065180 [GRCh37]
Chr4:4q24
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) deletion not provided [RCV001587600] Chr4:103120423..103120424 [GRCh38]
Chr4:104041580..104041581 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001590579] Chr4:103160431 [GRCh38]
Chr4:104081588 [GRCh37]
Chr4:4q24
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) deletion not provided [RCV001592451] Chr4:103181461 [GRCh38]
Chr4:104102618 [GRCh37]
Chr4:4q24
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1856 AgrOrtholog
COSMIC CENPE COSMIC
Ensembl Genes ENSG00000138778 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265148 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000369365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000426023 UniProtKB/TrEMBL
  ENSP00000483542 UniProtKB/TrEMBL
  ENSP00000499964 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265148 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000380026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509823 UniProtKB/TrEMBL
  ENST00000514974 UniProtKB/TrEMBL
  ENST00000611174 UniProtKB/TrEMBL
Gene3D-CATH 3.40.850.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138778 GTEx
HGNC ID HGNC:1856 ENTREZGENE
Human Proteome Map CENPE Human Proteome Map
InterPro Kinesin_motor_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinesin_motor_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1062 UniProtKB/Swiss-Prot
NCBI Gene 1062 ENTREZGENE
OMIM 117143 OMIM
  616051 OMIM
Pfam Kinesin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26400 PharmGKB
PRINTS KINESINHEAVY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE KINESIN_MOTOR_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KINESIN_MOTOR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KISc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0P0_HUMAN UniProtKB/TrEMBL
  A0A5F9ZH24_HUMAN UniProtKB/TrEMBL
  CENPE_HUMAN UniProtKB/Swiss-Prot
  D6RHK2_HUMAN UniProtKB/TrEMBL
  Q02224 ENTREZGENE
UniProt Secondary A6NKY9 UniProtKB/Swiss-Prot
  A8K2U7 UniProtKB/Swiss-Prot
  Q4LE75 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 CENPE  centromere protein E    centromere protein E, 312kDa  Symbol and/or name change 5135510 APPROVED