CEP57 (centrosomal protein 57) - Rat Genome Database

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Gene: CEP57 (centrosomal protein 57) Homo sapiens
Analyze
Symbol: CEP57
Name: centrosomal protein 57
RGD ID: 1602500
HGNC Page HGNC
Description: Exhibits fibroblast growth factor binding activity and protein homodimerization activity. Involved in fibroblast growth factor receptor signaling pathway. Localizes to Golgi apparatus; centrosome; and microtubule. Implicated in mosaic variegated aneuploidy syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: centrosomal protein 57kDa; centrosomal protein of 57 kDa; FGF2-interacting protein; KIAA0092; MVA2; PIG8; proliferation-inducing protein 8; testis-specific protein 57; translokin; TSP57
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL645568.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1195,789,965 - 95,832,693 (+)EnsemblGRCh38hg38GRCh38
GRCh381195,790,471 - 95,832,693 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371195,523,662 - 95,565,857 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,163,290 - 95,205,502 (+)NCBINCBI36hg18NCBI36
Celera1192,822,024 - 92,864,242 (+)NCBI
Cytogenetic Map11q21NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBIHuRef
CHM1_11195,406,634 - 95,448,873 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IBA,IDA)
cytoplasm  (IEA)
cytosol  (TAS)
Golgi apparatus  (IDA)
microtubule  (IDA)
nucleus  (ISS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lung lobation  (IAGP)
Abnormality of immune system physiology  (IAGP)
Abnormality of vision  (IAGP)
Acute lymphoblastic leukemia  (IAGP)
Ambiguous genitalia  (IAGP)
Aortic regurgitation  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Apnea  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blepharophimosis  (IAGP)
Bulbous nose  (IAGP)
Cafe-au-lait spot  (IAGP)
Cataract  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Colon cancer  (IAGP)
Corneal opacity  (IAGP)
Craniosynostosis  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duodenal atresia  (IAGP)
Epicanthus  (IAGP)
Epidermoid cyst  (IAGP)
Frontal bossing  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Holoprosencephaly  (IAGP)
Hypotelorism  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Increased nuchal translucency  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intestinal polyposis  (IAGP)
Intrauterine growth retardation  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Muscular dystrophy  (IAGP)
Myelodysplasia  (IAGP)
Narrow mouth  (IAGP)
Nephroblastoma  (IAGP)
Osteolysis  (IAGP)
Polyhydramnios  (IAGP)
Prominent forehead  (IAGP)
Rhabdomyosarcoma  (IAGP)
Rhizomelia  (IAGP)
Round ear  (IAGP)
Seizure  (IAGP)
Severe intrauterine growth retardation  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Single transverse palmar crease  (IAGP)
Sleep apnea  (IAGP)
Sloping forehead  (IAGP)
Small for gestational age  (IAGP)
Sparse hair  (IAGP)
Stomach cancer  (IAGP)
Subvalvular aortic stenosis  (IAGP)
Temporal bossing  (IAGP)
Triangular face  (IAGP)
Vaginal neoplasm  (IAGP)
Ventricular septal defect  (IAGP)
Wide nose  (IAGP)
References

Additional References at PubMed
PMID:7788527   PMID:7790358   PMID:10942595   PMID:11076968   PMID:12221128   PMID:12421765   PMID:12477932   PMID:12717444   PMID:12852856   PMID:12954732   PMID:14654843   PMID:14702039  
PMID:15489334   PMID:15607035   PMID:16344560   PMID:16462731   PMID:18029348   PMID:19322201   PMID:19804566   PMID:19913121   PMID:20195357   PMID:20628086   PMID:21306487   PMID:21399614  
PMID:21516116   PMID:21552266   PMID:21832049   PMID:21873635   PMID:22190034   PMID:22508265   PMID:23243019   PMID:23333316   PMID:23443559   PMID:23569207   PMID:23752268   PMID:24390342  
PMID:24457600   PMID:24613305   PMID:25416956   PMID:26496610   PMID:26561035   PMID:26743940   PMID:28514442   PMID:28700943   PMID:30804344   PMID:31515488   PMID:32152252   PMID:32296183  
PMID:32814053  


Genomics

Comparative Map Data
CEP57
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1195,789,965 - 95,832,693 (+)EnsemblGRCh38hg38GRCh38
GRCh381195,790,471 - 95,832,693 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371195,523,662 - 95,565,857 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361195,163,290 - 95,205,502 (+)NCBINCBI36hg18NCBI36
Celera1192,822,024 - 92,864,242 (+)NCBI
Cytogenetic Map11q21NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBIHuRef
CHM1_11195,406,634 - 95,448,873 (+)NCBICHM1_1
Cep57
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39913,717,979 - 13,738,698 (-)NCBIGRCm39mm39
GRCm39 Ensembl913,719,088 - 13,738,403 (-)Ensembl
GRCm38913,807,783 - 13,827,407 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl913,807,792 - 13,827,107 (-)EnsemblGRCm38mm10GRCm38
MGSCv37913,612,232 - 13,631,537 (-)NCBIGRCm37mm9NCBIm37
MGSCv36913,558,192 - 13,577,449 (-)NCBImm8
Celera911,086,224 - 11,105,529 (-)NCBICelera
Cytogenetic Map9A1NCBI
Cep57
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2810,669,588 - 10,689,257 (-)NCBI
Rnor_6.0 Ensembl812,335,432 - 12,355,091 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0812,335,430 - 12,355,425 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0812,285,706 - 12,305,716 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4810,608,688 - 10,627,914 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1810,608,258 - 10,628,586 (-)NCBI
Celera812,170,101 - 12,189,763 (-)NCBICelera
Cytogenetic Map8q12NCBI
Cep57
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955412638,718 - 693,837 (+)NCBIChiLan1.0ChiLan1.0
CEP57
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11194,322,862 - 94,365,643 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01190,795,277 - 90,838,166 (+)NCBIMhudiblu_PPA_v0panPan3
CEP57
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1215,314,290 - 5,360,474 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl215,314,449 - 5,361,154 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha215,306,946 - 5,372,017 (-)NCBI
ROS_Cfam_1.0215,470,572 - 5,535,631 (-)NCBI
UMICH_Zoey_3.1215,265,268 - 5,330,343 (-)NCBI
UNSW_CanFamBas_1.0215,326,888 - 5,391,987 (-)NCBI
UU_Cfam_GSD_1.0215,374,577 - 5,439,676 (-)NCBI
Cep57
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494780,630,996 - 80,670,623 (+)NCBI
SpeTri2.0NW_0049367001,874,509 - 1,914,688 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP57
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl927,812,917 - 27,859,568 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1927,812,944 - 27,858,293 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2931,728,611 - 31,738,258 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP57
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1187,046,915 - 87,088,999 (+)NCBI
ChlSab1.1 Ensembl187,046,639 - 87,093,786 (+)Ensembl
Vero_WHO_p1.0NW_02366604338,725,753 - 38,769,778 (-)NCBI
Cep57
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473540,647,104 - 40,670,640 (+)NCBI

Position Markers
STS-AA021450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,559,469 - 95,559,712UniSTSGRCh37
Build 361195,199,117 - 95,199,360RGDNCBI36
Celera1192,857,853 - 92,858,096RGD
Cytogenetic Map11q21UniSTS
HuRef1191,625,262 - 91,625,505UniSTS
GeneMap99-GB4 RH Map11318.92UniSTS
NCBI RH Map11797.4UniSTS
STS-D42054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,565,508 - 95,565,688UniSTSGRCh37
Build 361195,205,156 - 95,205,336RGDNCBI36
Celera1192,863,896 - 92,864,076RGD
Cytogenetic Map11q21UniSTS
HuRef1191,631,307 - 91,631,487UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
RH25320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,565,528 - 95,565,820UniSTSGRCh37
Build 361195,205,176 - 95,205,468RGDNCBI36
Celera1192,863,916 - 92,864,208RGD
Cytogenetic Map11q21UniSTS
HuRef1191,631,327 - 91,631,619UniSTS
RH36085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,559,745 - 95,559,881UniSTSGRCh37
Build 361195,199,393 - 95,199,529RGDNCBI36
Celera1192,858,129 - 92,858,265RGD
Cytogenetic Map11q21UniSTS
HuRef1191,625,538 - 91,625,674UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
NCBI RH Map11794.1UniSTS
D11S4333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,564,659 - 95,564,809UniSTSGRCh37
Build 361195,204,307 - 95,204,457RGDNCBI36
Celera1192,863,047 - 92,863,197RGD
Cytogenetic Map11q21UniSTS
HuRef1191,630,458 - 91,630,608UniSTS
TNG Radiation Hybrid Map1143858.0UniSTS
Stanford-G3 RH Map114177.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
GeneMap99-G3 RH Map114177.0UniSTS
WI-21801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371195,564,603 - 95,564,869UniSTSGRCh37
Build 361195,204,251 - 95,204,517RGDNCBI36
Celera1192,862,991 - 92,863,257RGD
Cytogenetic Map11q21UniSTS
HuRef1191,630,402 - 91,630,668UniSTS
GeneMap99-GB4 RH Map11319.17UniSTS
Whitehead-RH Map11416.2UniSTS
NCBI RH Map11794.1UniSTS
D11S2230E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3664
Count of miRNA genes:987
Interacting mature miRNAs:1184
Transcripts:ENST00000325486, ENST00000325542, ENST00000535224, ENST00000535497, ENST00000536587, ENST00000537093, ENST00000537677, ENST00000538095, ENST00000538158, ENST00000538658, ENST00000539855, ENST00000540830, ENST00000541150, ENST00000541365, ENST00000541768, ENST00000544522
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 2133 1443 1524 492 1234 366 3398 942 2016 268 1419 1592 143 1 1037 1949 5 2
Low 306 1543 202 132 713 99 959 1254 1718 151 41 21 32 167 839 1
Below cutoff 5 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA730219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY239292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG699097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D42054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB032301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000325486   ⟹   ENSP00000317487
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,461 - 95,832,691 (+)Ensembl
RefSeq Acc Id: ENST00000325542   ⟹   ENSP00000317902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,498 - 95,832,693 (+)Ensembl
RefSeq Acc Id: ENST00000535224   ⟹   ENSP00000440256
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,817,837 - 95,831,145 (+)Ensembl
RefSeq Acc Id: ENST00000535497   ⟹   ENSP00000442481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,531 - 95,813,520 (+)Ensembl
RefSeq Acc Id: ENST00000536587
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,812,930 - 95,815,260 (+)Ensembl
RefSeq Acc Id: ENST00000537093   ⟹   ENSP00000444749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,817,820 - 95,828,027 (+)Ensembl
RefSeq Acc Id: ENST00000537677   ⟹   ENSP00000441392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,789,965 - 95,831,267 (+)Ensembl
RefSeq Acc Id: ENST00000538095   ⟹   ENSP00000443866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,498 - 95,812,979 (+)Ensembl
RefSeq Acc Id: ENST00000538158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,825,683 - 95,831,167 (+)Ensembl
RefSeq Acc Id: ENST00000538658   ⟹   ENSP00000445706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,659 - 95,823,215 (+)Ensembl
RefSeq Acc Id: ENST00000539855   ⟹   ENSP00000437422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,516 - 95,831,281 (+)Ensembl
RefSeq Acc Id: ENST00000540830   ⟹   ENSP00000440996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,533 - 95,831,543 (+)Ensembl
RefSeq Acc Id: ENST00000541150   ⟹   ENSP00000443436
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,795,542 - 95,832,691 (+)Ensembl
RefSeq Acc Id: ENST00000541365   ⟹   ENSP00000445821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,522 - 95,818,903 (+)Ensembl
RefSeq Acc Id: ENST00000541768
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,812,977 - 95,818,032 (+)Ensembl
RefSeq Acc Id: ENST00000544522   ⟹   ENSP00000438065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1195,790,513 - 95,817,903 (+)Ensembl
RefSeq Acc Id: NM_001243776   ⟹   NP_001230705
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
GRCh371195,523,625 - 95,565,857 (+)NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBI
CHM1_11195,406,634 - 95,448,873 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001243777   ⟹   NP_001230706
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
GRCh371195,523,625 - 95,565,857 (+)NCBI
HuRef1191,589,397 - 91,631,656 (+)NCBI
CHM1_11195,406,634 - 95,448,873 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363604   ⟹   NP_001350533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
RefSeq Acc Id: NM_014679   ⟹   NP_055494
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,498 - 95,832,693 (+)NCBI
GRCh371195,523,625 - 95,565,857 (+)NCBI
Build 361195,163,290 - 95,205,502 (+)NCBI Archive
Celera1192,822,024 - 92,864,242 (+)RGD
HuRef1191,589,397 - 91,631,656 (+)NCBI
CHM1_11195,406,634 - 95,448,873 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718945   ⟹   XP_006719008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,471 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006718946   ⟹   XP_006719009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,471 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018592   ⟹   XP_016874081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,793,105 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018593   ⟹   XP_016874082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,471 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018594   ⟹   XP_016874083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,471 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448779   ⟹   XP_024304547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,794,221 - 95,832,693 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001748050
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381195,790,471 - 95,832,693 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055494   ⟸   NM_014679
- Peptide Label: isoform a
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230705   ⟸   NM_001243776
- Peptide Label: isoform b
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230706   ⟸   NM_001243777
- Peptide Label: isoform c
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719009   ⟸   XM_006718946
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006719008   ⟸   XM_006718945
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016874082   ⟸   XM_017018593
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016874083   ⟸   XM_017018594
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016874081   ⟸   XM_017018592
- Peptide Label: isoform X1
- UniProtKB: Q86XR8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304547   ⟸   XM_024448779
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001350533   ⟸   NM_001363604
- Peptide Label: isoform d
RefSeq Acc Id: ENSP00000445821   ⟸   ENST00000541365
RefSeq Acc Id: ENSP00000443436   ⟸   ENST00000541150
RefSeq Acc Id: ENSP00000438065   ⟸   ENST00000544522
RefSeq Acc Id: ENSP00000442481   ⟸   ENST00000535497
RefSeq Acc Id: ENSP00000440256   ⟸   ENST00000535224
RefSeq Acc Id: ENSP00000317487   ⟸   ENST00000325486
RefSeq Acc Id: ENSP00000317902   ⟸   ENST00000325542
RefSeq Acc Id: ENSP00000444749   ⟸   ENST00000537093
RefSeq Acc Id: ENSP00000441392   ⟸   ENST00000537677
RefSeq Acc Id: ENSP00000443866   ⟸   ENST00000538095
RefSeq Acc Id: ENSP00000445706   ⟸   ENST00000538658
RefSeq Acc Id: ENSP00000437422   ⟸   ENST00000539855
RefSeq Acc Id: ENSP00000440996   ⟸   ENST00000540830
Protein Domains
Cep57_CLD   Cep57_MT_bd

Promoters
RGD ID:6788797
Promoter ID:HG_KWN:13992
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   K562
Transcripts:ENST00000325486,   NM_014679,   UC001PFO.1,   UC001PFR.1,   UC009YWN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361195,162,636 - 95,163,647 (+)MPROMDB
RGD ID:7221865
Promoter ID:EPDNEW_H16677
Type:initiation region
Name:CEP57_1
Description:centrosomal protein 57
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
GRCh381195,790,539 - 95,790,599EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014679.5(CEP57):c.1297_1305del (p.Gln433_Lys435del) deletion Mosaic variegated aneuploidy syndrome 2 [RCV000524965] Chr11:95831045..95831053 [GRCh38]
Chr11:95564209..95564217 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.510C>G (p.Ser170=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000554426] Chr11:95817792 [GRCh38]
Chr11:95550956 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.518_519GA[1] (p.Glu174fs) microsatellite Mosaic variegated aneuploidy syndrome 2 [RCV000023668] Chr11:95817799..95817800 [GRCh38]
Chr11:95550963..95550964 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.915_925dup (p.Leu309fs) duplication Mosaic variegated aneuploidy syndrome 1 [RCV000656492]|Mosaic variegated aneuploidy syndrome 2 [RCV000023669] Chr11:95827811..95827812 [GRCh38]
Chr11:95560979..95560989 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.241C>T (p.Arg81Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000023670] Chr11:95812970 [GRCh38]
Chr11:95546134 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.1008A>G (p.Val336=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000548978] Chr11:95827908 [GRCh38]
Chr11:95561072 [GRCh37]
Chr11:11q21
likely benign
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
NM_014679.5(CEP57):c.89G>C (p.Arg30Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001331874]|not provided [RCV000171200] Chr11:95799275 [GRCh38]
Chr11:95532439 [GRCh37]
Chr11:11q21
likely pathogenic|uncertain significance
NM_014679.5(CEP57):c.1015C>T (p.Arg339Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001331873] Chr11:95827915 [GRCh38]
Chr11:95561079 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.1051C>A (p.Pro351Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001303037] Chr11:95827951 [GRCh38]
Chr11:95561115 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1306G>C (p.Glu436Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001348156] Chr11:95831059 [GRCh38]
Chr11:95564223 [GRCh37]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
GRCh38/hg38 11q21(chr11:94324282-96081666)x3 copy number gain See cases [RCV000134847] Chr11:94324282..96081666 [GRCh38]
Chr11:94057448..95814830 [GRCh37]
Chr11:93697096..95454478 [NCBI36]
Chr11:11q21
uncertain significance
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 copy number loss See cases [RCV000138038] Chr11:91086659..109595582 [GRCh38]
Chr11:90819827..109466308 [GRCh37]
Chr11:90459475..108971518 [NCBI36]
Chr11:11q14.3-22.3
pathogenic
NM_014679.5(CEP57):c.1099T>A (p.Leu367Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001211684] Chr11:95827999 [GRCh38]
Chr11:95561163 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:94696615-95528715)x3 copy number gain Ductal breast carcinoma [RCV000207047] Chr11:94696615..95528715 [GRCh37]
Chr11:11q21
pathogenic|likely pathogenic|uncertain significance
NM_014679.5(CEP57):c.1036T>C (p.Leu346=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000232418] Chr11:95827936 [GRCh38]
Chr11:95561100 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.4G>A (p.Ala2Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000234087] Chr11:95790702 [GRCh38]
Chr11:95523866 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.807+3G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000228983] Chr11:95821981 [GRCh38]
Chr11:95555145 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.917A>G (p.Asn306Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000555389] Chr11:95827817 [GRCh38]
Chr11:95560981 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1420_1421del (p.Arg474fs) deletion not provided [RCV001092186] Chr11:95831173..95831174 [GRCh38]
Chr11:95564337..95564338 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.422A>G (p.Asn141Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000541957] Chr11:95813507 [GRCh38]
Chr11:95546671 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q21(chr11:95512235-95991687)x3 copy number gain See cases [RCV000449162] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_014679.5(CEP57):c.798A>G (p.Pro266=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000466460] Chr11:95821969 [GRCh38]
Chr11:95555133 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.333G>C (p.Gln111His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000470895] Chr11:95813062 [GRCh38]
Chr11:95546226 [GRCh37]
Chr11:11q21
benign|likely benign
NM_014679.5(CEP57):c.1214T>C (p.Val405Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000475407] Chr11:95829273 [GRCh38]
Chr11:95562437 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.520G>C (p.Glu174Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000468184] Chr11:95817802 [GRCh38]
Chr11:95550966 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.451C>A (p.Arg151=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000471978] Chr11:95813536 [GRCh38]
Chr11:95546700 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.753G>A (p.Pro251=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000457115] Chr11:95821924 [GRCh38]
Chr11:95555088 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.572T>A (p.Leu191His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000461384] Chr11:95817854 [GRCh38]
Chr11:95551018 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.925C>T (p.Leu309Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000531423] Chr11:95827825 [GRCh38]
Chr11:95560989 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.807+8G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000458740] Chr11:95821986 [GRCh38]
Chr11:95555150 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.979A>G (p.Ile327Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000462676] Chr11:95827879 [GRCh38]
Chr11:95561043 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.724del (p.Arg242fs) deletion Mosaic variegated aneuploidy syndrome [RCV000498788] Chr11:95821895 [GRCh38]
Chr11:95555059 [GRCh37]
Chr11:11q21
pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 copy number loss See cases [RCV000510457] Chr11:88152458..109414650 [GRCh37]
Chr11:11q14.2-22.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_014679.5(CEP57):c.751C>T (p.Pro251Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000538321] Chr11:95821922 [GRCh38]
Chr11:95555086 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.677G>A (p.Arg226His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000525894] Chr11:95818882 [GRCh38]
Chr11:95552046 [GRCh37]
Chr11:11q21
benign|likely benign|conflicting interpretations of pathogenicity
NM_014679.5(CEP57):c.503A>T (p.Gln168Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649339] Chr11:95813588 [GRCh38]
Chr11:95546752 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.65C>T (p.Ser22Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649340] Chr11:95799251 [GRCh38]
Chr11:95532415 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_014679.5(CEP57):c.1058C>T (p.Ser353Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649341] Chr11:95827958 [GRCh38]
Chr11:95561122 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.787A>C (p.Lys263Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649342] Chr11:95821958 [GRCh38]
Chr11:95555122 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1292A>C (p.Glu431Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649343] Chr11:95831045 [GRCh38]
Chr11:95564209 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.373C>T (p.His125Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649344] Chr11:95813102 [GRCh38]
Chr11:95546266 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.95C>T (p.Ser32Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649345] Chr11:95799281 [GRCh38]
Chr11:95532445 [GRCh37]
Chr11:11q21
likely benign|uncertain significance
NM_014679.5(CEP57):c.26C>T (p.Ala9Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649346] Chr11:95790724 [GRCh38]
Chr11:95523888 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.448A>T (p.Met150Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649347] Chr11:95813533 [GRCh38]
Chr11:95546697 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.926T>G (p.Leu309Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649348] Chr11:95827826 [GRCh38]
Chr11:95560990 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.23C>T (p.Ala8Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649349] Chr11:95790721 [GRCh38]
Chr11:95523885 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.89G>A (p.Arg30Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649350] Chr11:95799275 [GRCh38]
Chr11:95532439 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1065T>C (p.Gly355=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000649351] Chr11:95827965 [GRCh38]
Chr11:95561129 [GRCh37]
Chr11:11q21
likely benign
GRCh37/hg19 11q21(chr11:95512235-95991687)x3 copy number gain not provided [RCV000683337] Chr11:95512235..95991687 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_014679.5(CEP57):c.1160A>C (p.Glu387Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000699935] Chr11:95829219 [GRCh38]
Chr11:95562383 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.505-9_505-6del deletion Mosaic variegated aneuploidy syndrome 2 [RCV000692901] Chr11:95817776..95817779 [GRCh38]
Chr11:95550940..95550943 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.88C>T (p.Arg30Trp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000691915] Chr11:95799274 [GRCh38]
Chr11:95532438 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1450A>C (p.Met484Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000703940] Chr11:95831203 [GRCh38]
Chr11:95564367 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1057T>A (p.Ser353Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000707386] Chr11:95827957 [GRCh38]
Chr11:95561121 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.949C>T (p.His317Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000702698] Chr11:95827849 [GRCh38]
Chr11:95561013 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1117C>T (p.Gln373Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000696209] Chr11:95828017 [GRCh38]
Chr11:95561181 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1273C>T (p.Leu425=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000697740] Chr11:95831026 [GRCh38]
Chr11:95564190 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.50G>C (p.Ser17Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000705995] Chr11:95799236 [GRCh38]
Chr11:95532400 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.836_838del (p.Gln279del) deletion Mosaic variegated aneuploidy syndrome 2 [RCV000703728] Chr11:95822525..95822527 [GRCh38]
Chr11:95555689..95555691 [GRCh37]
Chr11:11q21
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000988625] Chr11:95831095 [GRCh38]
Chr11:95564259 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.985A>G (p.Ser329Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000867602] Chr11:95827885 [GRCh38]
Chr11:95561049 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.426A>G (p.Leu142=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000865834] Chr11:95813511 [GRCh38]
Chr11:95546675 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.540A>G (p.Thr180=) single nucleotide variant not provided [RCV000865647] Chr11:95817822 [GRCh38]
Chr11:95550986 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.501A>G (p.Lys167=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000866156] Chr11:95813586 [GRCh38]
Chr11:95546750 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.1020T>C (p.Gly340=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000868163] Chr11:95827920 [GRCh38]
Chr11:95561084 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.258G>C (p.Glu86Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001051455] Chr11:95812987 [GRCh38]
Chr11:95546151 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.833C>T (p.Ala278Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001041245] Chr11:95822524 [GRCh38]
Chr11:95555688 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1075_1076delinsTT (p.Glu359Leu) indel Mosaic variegated aneuploidy syndrome 2 [RCV001061908] Chr11:95827975..95827976 [GRCh38]
Chr11:95561139..95561140 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1046C>T (p.Thr349Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001048531] Chr11:95827946 [GRCh38]
Chr11:95561110 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1281_1295del (p.425_429LEKQK[1]) deletion Mosaic variegated aneuploidy syndrome 2 [RCV001047227] Chr11:95831029..95831043 [GRCh38]
Chr11:95564193..95564207 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.39C>G (p.His13Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001037335] Chr11:95790737 [GRCh38]
Chr11:95523901 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.244C>T (p.Arg82Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001060429] Chr11:95812973 [GRCh38]
Chr11:95546137 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.471C>T (p.Ala157=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000872288] Chr11:95813556 [GRCh38]
Chr11:95546720 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.669A>G (p.Glu223=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000864251] Chr11:95818874 [GRCh38]
Chr11:95552038 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.1074G>A (p.Glu358=) single nucleotide variant not provided [RCV000867509] Chr11:95827974 [GRCh38]
Chr11:95561138 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.1062C>T (p.Asn354=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000865785] Chr11:95827962 [GRCh38]
Chr11:95561126 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.451C>T (p.Arg151Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000797548] Chr11:95813536 [GRCh38]
Chr11:95546700 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.670A>G (p.Arg224Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000793736] Chr11:95818875 [GRCh38]
Chr11:95552039 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.174A>G (p.Thr58=) single nucleotide variant not provided [RCV000976656] Chr11:95799360 [GRCh38]
Chr11:95532524 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) deletion Mosaic variegated aneuploidy syndrome 2 [RCV000791171] Chr11:95831155 [GRCh38]
Chr11:95564319 [GRCh37]
Chr11:11q21
likely pathogenic
NM_014679.5(CEP57):c.1165C>T (p.Pro389Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000818353] Chr11:95829224 [GRCh38]
Chr11:95562388 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1272+4A>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000812499] Chr11:95829335 [GRCh38]
Chr11:95562499 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.25G>A (p.Ala9Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000796113] Chr11:95790723 [GRCh38]
Chr11:95523887 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.382+10_382+12del microsatellite not provided [RCV000960353] Chr11:95813118..95813120 [GRCh38]
Chr11:95546282..95546284 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.122C>T (p.Ser41Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000795242] Chr11:95799308 [GRCh38]
Chr11:95532472 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.335T>A (p.Ile112Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001067749] Chr11:95813064 [GRCh38]
Chr11:95546228 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000863097] Chr11:95821935 [GRCh38]
Chr11:95555099 [GRCh37]
Chr11:11q21
likely benign|conflicting interpretations of pathogenicity
NM_014679.5(CEP57):c.366A>C (p.Glu122Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000793450] Chr11:95813095 [GRCh38]
Chr11:95546259 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1403T>A (p.Leu468Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000822246] Chr11:95831156 [GRCh38]
Chr11:95564320 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.701T>G (p.Leu234Trp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000805836] Chr11:95821872 [GRCh38]
Chr11:95555036 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.808-6A>G single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000862508] Chr11:95822493 [GRCh38]
Chr11:95555657 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.458T>C (p.Met153Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV000823529] Chr11:95813543 [GRCh38]
Chr11:95546707 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.46-9A>C single nucleotide variant not provided [RCV000977012] Chr11:95799223 [GRCh38]
Chr11:95532387 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.621+7G>T single nucleotide variant not provided [RCV000869689] Chr11:95817910 [GRCh38]
Chr11:95551074 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.170C>G (p.Pro57Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001045778] Chr11:95799356 [GRCh38]
Chr11:95532520 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.723T>G (p.Asn241Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001068270] Chr11:95821894 [GRCh38]
Chr11:95555058 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1286dup (p.Leu430fs) duplication Mosaic variegated aneuploidy syndrome 2 [RCV001208203] Chr11:95831037..95831038 [GRCh38]
Chr11:95564201..95564202 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1433T>A (p.Leu478His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001225723] Chr11:95831186 [GRCh38]
Chr11:95564350 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1021G>A (p.Gly341Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001203012] Chr11:95827921 [GRCh38]
Chr11:95561085 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1172T>C (p.Val391Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216936] Chr11:95829231 [GRCh38]
Chr11:95562395 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.896C>G (p.Pro299Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001209416] Chr11:95827796 [GRCh38]
Chr11:95560960 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1246A>G (p.Thr416Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001235094] Chr11:95829305 [GRCh38]
Chr11:95562469 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.365A>C (p.Glu122Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001227202] Chr11:95813094 [GRCh38]
Chr11:95546258 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.524G>A (p.Arg175Gln) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001232498] Chr11:95817806 [GRCh38]
Chr11:95550970 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1496A>G (p.Asp499Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001238551] Chr11:95831249 [GRCh38]
Chr11:95564413 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.31G>C (p.Gly11Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001247749] Chr11:95790729 [GRCh38]
Chr11:95523893 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.226C>G (p.Leu76Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001068875] Chr11:95812955 [GRCh38]
Chr11:95546119 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.36T>A (p.Ser12=) single nucleotide variant not provided [RCV000910595] Chr11:95790734 [GRCh38]
Chr11:95523898 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.51C>T (p.Ser17=) single nucleotide variant not provided [RCV000954545] Chr11:95799237 [GRCh38]
Chr11:95532401 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.1272+7_1272+8del deletion Mosaic variegated aneuploidy syndrome 2 [RCV000863797] Chr11:95829338..95829339 [GRCh38]
Chr11:95562502..95562503 [GRCh37]
Chr11:11q21
benign
NM_014679.5(CEP57):c.46-8T>A single nucleotide variant not provided [RCV000952648] Chr11:95799224 [GRCh38]
Chr11:95532388 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.1104G>A (p.Gln368=) single nucleotide variant not provided [RCV000981893] Chr11:95828004 [GRCh38]
Chr11:95561168 [GRCh37]
Chr11:11q21
likely benign
NM_014679.5(CEP57):c.841C>T (p.His281Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001214046] Chr11:95822532 [GRCh38]
Chr11:95555696 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.100T>C (p.Ser34Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001222185] Chr11:95799286 [GRCh38]
Chr11:95532450 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.245G>A (p.Arg82His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001218977] Chr11:95812974 [GRCh38]
Chr11:95546138 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.626A>C (p.Lys209Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001226300] Chr11:95818831 [GRCh38]
Chr11:95551995 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1045A>C (p.Thr349Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001231981] Chr11:95827945 [GRCh38]
Chr11:95561109 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1247C>G (p.Thr416Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001208038] Chr11:95829306 [GRCh38]
Chr11:95562470 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.575T>C (p.Leu192Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001223441] Chr11:95817857 [GRCh38]
Chr11:95551021 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1294A>G (p.Lys432Glu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001051083] Chr11:95831047 [GRCh38]
Chr11:95564211 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1196G>A (p.Cys399Tyr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216919] Chr11:95829255 [GRCh38]
Chr11:95562419 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.440T>C (p.Leu147Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001227376] Chr11:95813525 [GRCh38]
Chr11:95546689 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.478G>A (p.Glu160Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001221155] Chr11:95813563 [GRCh38]
Chr11:95546727 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.292T>C (p.Ser98Pro) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001235154] Chr11:95813021 [GRCh38]
Chr11:95546185 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.918T>A (p.Asn306Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001070356] Chr11:95827818 [GRCh38]
Chr11:95560982 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.746C>T (p.Ala249Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001069045] Chr11:95821917 [GRCh38]
Chr11:95555081 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1273-7G>A single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001034951] Chr11:95831019 [GRCh38]
Chr11:95564183 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.581A>G (p.Gln194Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001204759] Chr11:95817863 [GRCh38]
Chr11:95551027 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.680T>C (p.Met227Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001229421] Chr11:95818885 [GRCh38]
Chr11:95552049 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1063G>A (p.Gly355Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001203249] Chr11:95827963 [GRCh38]
Chr11:95561127 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1075G>A (p.Glu359Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001201435] Chr11:95827975 [GRCh38]
Chr11:95561139 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1123A>C (p.Ser375Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001247328] Chr11:95828023 [GRCh38]
Chr11:95561187 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.504A>G (p.Gln168=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001234904] Chr11:95813589 [GRCh38]
Chr11:95546753 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1122G>T (p.Met374Ile) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001212986] Chr11:95828022 [GRCh38]
Chr11:95561186 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.382+4T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001057492] Chr11:95813115 [GRCh38]
Chr11:95546279 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.778A>T (p.Lys260Ter) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001205462] Chr11:95821949 [GRCh38]
Chr11:95555113 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.559G>A (p.Glu187Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216680] Chr11:95817841 [GRCh38]
Chr11:95551005 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.410A>C (p.Glu137Ala) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001236157] Chr11:95813495 [GRCh38]
Chr11:95546659 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.304A>G (p.Ile102Val) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001206033] Chr11:95813033 [GRCh38]
Chr11:95546197 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.542A>G (p.His181Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001214958] Chr11:95817824 [GRCh38]
Chr11:95550988 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.824A>G (p.Tyr275Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001230813] Chr11:95822515 [GRCh38]
Chr11:95555679 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1063G>T (p.Gly355Cys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001248341] Chr11:95827963 [GRCh38]
Chr11:95561127 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.88C>A (p.Arg30=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001038307] Chr11:95799274 [GRCh38]
Chr11:95532438 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1031A>G (p.Lys344Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001071761] Chr11:95827931 [GRCh38]
Chr11:95561095 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.552C>A (p.Ser184Arg) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001216182] Chr11:95817834 [GRCh38]
Chr11:95550998 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.846T>C (p.Tyr282=) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001211713] Chr11:95822537 [GRCh38]
Chr11:95555701 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.145G>A (p.Asp49Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001063077] Chr11:95799331 [GRCh38]
Chr11:95532495 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.382+2T>C single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001255701] Chr11:95813113 [GRCh38]
Chr11:95546277 [GRCh37]
Chr11:11q21
pathogenic
NM_014679.5(CEP57):c.896C>A (p.Pro299His) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001294116] Chr11:95827796 [GRCh38]
Chr11:95560960 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1220G>A (p.Arg407Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001305457] Chr11:95829279 [GRCh38]
Chr11:95562443 [GRCh37]
Chr11:11q21
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_014679.5(CEP57):c.599C>A (p.Thr200Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001316702] Chr11:95817881 [GRCh38]
Chr11:95551045 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.444A>C (p.Glu148Asp) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001296714] Chr11:95813529 [GRCh38]
Chr11:95546693 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1484G>A (p.Ser495Asn) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001301964] Chr11:95831237 [GRCh38]
Chr11:95564401 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.550A>G (p.Ser184Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001302308] Chr11:95817832 [GRCh38]
Chr11:95550996 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1028G>C (p.Ser343Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001307987] Chr11:95827928 [GRCh38]
Chr11:95561092 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1357C>G (p.Arg453Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001292716] Chr11:95831110 [GRCh38]
Chr11:95564274 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.233A>G (p.Asp78Gly) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001292895] Chr11:95812962 [GRCh38]
Chr11:95546126 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1207G>A (p.Ala403Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001308719] Chr11:95829266 [GRCh38]
Chr11:95562430 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.217C>T (p.Leu73Phe) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001307725] Chr11:95812946 [GRCh38]
Chr11:95546110 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1453C>A (p.Gln485Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001307858] Chr11:95831206 [GRCh38]
Chr11:95564370 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.263T>C (p.Ile88Thr) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001299701] Chr11:95812992 [GRCh38]
Chr11:95546156 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1084G>A (p.Glu362Lys) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001324438] Chr11:95827984 [GRCh38]
Chr11:95561148 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.1466A>G (p.Asn489Ser) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001338313] Chr11:95831219 [GRCh38]
Chr11:95564383 [GRCh37]
Chr11:11q21
uncertain significance
NM_014679.5(CEP57):c.752C>T (p.Pro251Leu) single nucleotide variant Mosaic variegated aneuploidy syndrome 2 [RCV001326070] Chr11:95821923 [GRCh38]
Chr11:95555087 [GRCh37]
Chr11:11q21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30794 AgrOrtholog
COSMIC CEP57 COSMIC
Ensembl Genes ENSG00000166037 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000317487 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000317902 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437422 UniProtKB/TrEMBL
  ENSP00000438065 UniProtKB/TrEMBL
  ENSP00000440256 UniProtKB/TrEMBL
  ENSP00000440996 UniProtKB/TrEMBL
  ENSP00000441392 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000442481 UniProtKB/TrEMBL
  ENSP00000443436 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443866 UniProtKB/TrEMBL
  ENSP00000444749 UniProtKB/TrEMBL
  ENSP00000445706 UniProtKB/Swiss-Prot
  ENSP00000445821 UniProtKB/TrEMBL
Ensembl Transcript ENST00000325486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000325542 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535224 UniProtKB/TrEMBL
  ENST00000535497 UniProtKB/TrEMBL
  ENST00000537093 UniProtKB/TrEMBL
  ENST00000537677 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000538095 UniProtKB/TrEMBL
  ENST00000538658 UniProtKB/Swiss-Prot
  ENST00000539855 UniProtKB/TrEMBL
  ENST00000540830 UniProtKB/TrEMBL
  ENST00000541150 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000541365 UniProtKB/TrEMBL
  ENST00000544522 UniProtKB/TrEMBL
GTEx ENSG00000166037 GTEx
HGNC ID HGNC:30794 ENTREZGENE
Human Proteome Map CEP57 Human Proteome Map
InterPro Centrosomal_protein_57kDa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_CLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_MT-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9702 UniProtKB/Swiss-Prot
NCBI Gene 9702 ENTREZGENE
OMIM 607951 OMIM
  614114 OMIM
PANTHER PTHR19336:SF11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cep57_CLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cep57_MT_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672123 PharmGKB
UniProt A0A024R3A1_HUMAN UniProtKB/TrEMBL
  A0A024R3B1_HUMAN UniProtKB/TrEMBL
  A0A024R3D1_HUMAN UniProtKB/TrEMBL
  CEP57_HUMAN UniProtKB/Swiss-Prot
  F5GXS6_HUMAN UniProtKB/TrEMBL
  F5GYW0_HUMAN UniProtKB/TrEMBL
  F5GZ93_HUMAN UniProtKB/TrEMBL
  F5H0C6_HUMAN UniProtKB/TrEMBL
  F5H1B0_HUMAN UniProtKB/TrEMBL
  F5H6R3_HUMAN UniProtKB/TrEMBL
  F5H7J4_HUMAN UniProtKB/TrEMBL
  H0YFT8_HUMAN UniProtKB/TrEMBL
  H0YGT4_HUMAN UniProtKB/TrEMBL
  Q86XR8 ENTREZGENE
UniProt Secondary A0PJH1 UniProtKB/Swiss-Prot
  A8K5D0 UniProtKB/Swiss-Prot
  B4DDP5 UniProtKB/Swiss-Prot
  F5H5F7 UniProtKB/Swiss-Prot
  Q14704 UniProtKB/Swiss-Prot
  Q5JB46 UniProtKB/Swiss-Prot
  Q8IXP0 UniProtKB/Swiss-Prot
  Q9BVF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP57  centrosomal protein 57  CEP57  centrosomal protein 57kDa  Symbol and/or name change 5135510 APPROVED