CEP55 (centrosomal protein 55) - Rat Genome Database

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Gene: CEP55 (centrosomal protein 55) Homo sapiens
Analyze
Symbol: CEP55
Name: centrosomal protein 55
RGD ID: 1313311
HGNC Page HGNC:1161
Description: Enables identical protein binding activity. Involved in cranial skeletal system development; establishment of protein localization; and midbody abscission. Acts upstream of or within mitotic cytokinesis. Located in Flemming body and centrosome. Implicated in multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C10orf3; cancer/testis antigen 111; centrosomal protein 55kDa; centrosomal protein of 55 kDa; CT111; FLJ10540; MARCH; up-regulated in colon cancer 6; URCC6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,496,612 - 93,529,092 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,496,612 - 93,529,092 (+)EnsemblGRCh38hg38GRCh38
GRCh371095,256,369 - 95,288,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,246,399 - 95,278,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 341095,246,398 - 95,278,837NCBI
Celera1088,997,538 - 89,030,019 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1088,883,806 - 88,916,653 (+)NCBIHuRef
CHM1_11095,538,951 - 95,571,417 (+)NCBICHM1_1
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
2-palmitoylglycerol  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
boron nitride  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
Cuprizon  (ISO)
deguelin  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (EXP,ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
enzyme inhibitor  (EXP)
ethanol  (EXP)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
L-methionine  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
lucanthone  (EXP)
MeIQx  (EXP)
methamphetamine  (EXP)
methimazole  (ISO)
mevinphos  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
ochratoxin A  (EXP,ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP)
PCB138  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
piroxicam  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centriole  (IEA)
centrosome  (IDA,IEA)
cleavage furrow  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
Flemming body  (IDA,IEA)
intercellular bridge  (IEA)
membrane  (HDA)
midbody  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16189514   PMID:16198290   PMID:16344560   PMID:16385451   PMID:16406728   PMID:16790497   PMID:17081983  
PMID:17207965   PMID:17237822   PMID:17556548   PMID:17853893   PMID:18641129   PMID:18940611   PMID:18948538   PMID:19525975   PMID:19549727   PMID:19609239   PMID:19638580   PMID:19855176  
PMID:19946888   PMID:20176808   PMID:20186884   PMID:20360068   PMID:20400365   PMID:20616062   PMID:21079244   PMID:21163940   PMID:21310966   PMID:21399614   PMID:21516116   PMID:21873635  
PMID:21909099   PMID:22184120   PMID:22591637   PMID:22771033   PMID:23045692   PMID:23383273   PMID:23443559   PMID:24163370   PMID:24244333   PMID:24390615   PMID:24613305   PMID:24999758  
PMID:25178936   PMID:25281560   PMID:25416956   PMID:25449601   PMID:25659891   PMID:25666610   PMID:25889801   PMID:25900982   PMID:25910212   PMID:25915844   PMID:26186194   PMID:26496610  
PMID:26615423   PMID:26638075   PMID:26673895   PMID:26871637   PMID:26902787   PMID:26972000   PMID:27107012   PMID:27107014   PMID:27127172   PMID:27432908   PMID:27880917   PMID:28190767  
PMID:28264986   PMID:28295209   PMID:28514442   PMID:28620049   PMID:28675297   PMID:28700943   PMID:28718761   PMID:28724890   PMID:29395067   PMID:29507755   PMID:29561704   PMID:29579156  
PMID:29615496   PMID:29743530   PMID:29750778   PMID:29778605   PMID:30008265   PMID:30021884   PMID:30089483   PMID:30108112   PMID:30217970   PMID:30277841   PMID:30527357   PMID:30536308  
PMID:30601084   PMID:30607788   PMID:30622327   PMID:30896867   PMID:30979931   PMID:31005653   PMID:31091453   PMID:31462741   PMID:31515488   PMID:31527615   PMID:31586073   PMID:31605944  
PMID:31640955   PMID:31871319   PMID:31950832   PMID:32100459   PMID:32296183   PMID:32337246   PMID:32437446   PMID:32552912   PMID:32707033   PMID:32814053   PMID:32988587   PMID:32994395  
PMID:33015797   PMID:33060197   PMID:33256799   PMID:33277362   PMID:33417281   PMID:33497018   PMID:33644029   PMID:33957083   PMID:33961781   PMID:34055036   PMID:34079125   PMID:34133714  
PMID:34435195   PMID:34597346   PMID:34687317   PMID:34702444   PMID:34709727   PMID:34710087   PMID:34952571   PMID:35037833   PMID:35044719   PMID:35156780   PMID:35271311   PMID:35384245  
PMID:35446349   PMID:35509820   PMID:35563538   PMID:35831314   PMID:36012204   PMID:36109749   PMID:36114006   PMID:36215168   PMID:36232890   PMID:36273042   PMID:36374443   PMID:36404510  
PMID:36434144   PMID:36526897   PMID:36736316   PMID:37100772   PMID:37381005   PMID:37689310   PMID:38280479   PMID:38891874   PMID:39195269  


Genomics

Comparative Map Data
CEP55
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381093,496,612 - 93,529,092 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1093,496,612 - 93,529,092 (+)EnsemblGRCh38hg38GRCh38
GRCh371095,256,369 - 95,288,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361095,246,399 - 95,278,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 341095,246,398 - 95,278,837NCBI
Celera1088,997,538 - 89,030,019 (+)NCBICelera
Cytogenetic Map10q23.33NCBI
HuRef1088,883,806 - 88,916,653 (+)NCBIHuRef
CHM1_11095,538,951 - 95,571,417 (+)NCBICHM1_1
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBIT2T-CHM13v2.0
Cep55
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391938,043,423 - 38,062,873 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1938,043,459 - 38,062,871 (+)EnsemblGRCm39 Ensembl
GRCm381938,054,970 - 38,074,425 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1938,055,011 - 38,074,423 (+)EnsemblGRCm38mm10GRCm38
MGSCv371938,129,515 - 38,148,915 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361938,120,233 - 38,139,565 (+)NCBIMGSCv36mm8
Celera1938,846,212 - 38,865,667 (+)NCBICelera
Cytogenetic Map19C2NCBI
cM Map1932.69NCBI
Cep55
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81245,245,272 - 245,260,835 (+)NCBIGRCr8
mRatBN7.21235,832,823 - 235,848,401 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1235,832,878 - 235,848,394 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1244,254,545 - 244,270,018 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01251,150,097 - 251,165,573 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01243,988,329 - 244,003,805 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01256,745,251 - 256,760,794 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1256,745,288 - 256,760,796 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01264,225,973 - 264,241,499 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,382,809 - 242,398,281 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,576,204 - 242,591,651 (+)NCBI
Celera1232,926,417 - 232,941,885 (+)NCBICelera
Cytogenetic Map1q53NCBI
Cep55
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555072,296 - 26,911 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555072,384 - 25,105 (+)NCBIChiLan1.0ChiLan1.0
CEP55
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28105,531,493 - 105,566,962 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110105,536,808 - 105,573,933 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01090,239,770 - 90,275,156 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11093,750,177 - 93,784,890 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1093,750,177 - 93,784,890 (+)Ensemblpanpan1.1panPan2
CEP55
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1287,754,934 - 7,777,662 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl287,754,964 - 7,778,481 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha287,931,380 - 7,954,920 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0288,015,142 - 8,038,690 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl288,015,177 - 8,038,701 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1287,734,958 - 7,758,490 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0287,763,977 - 7,787,499 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0287,934,034 - 7,957,582 (+)NCBIUU_Cfam_GSD_1.0
Cep55
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721339,822,092 - 39,844,218 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366011,455,641 - 1,474,045 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366011,455,641 - 1,474,045 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CEP55
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14104,957,311 - 104,980,689 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114104,957,256 - 104,980,690 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214114,687,957 - 114,711,393 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CEP55
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1986,746,658 - 86,772,052 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl986,749,730 - 86,771,115 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604847,516,885 - 47,542,901 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cep55
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247374,718,883 - 4,740,489 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247374,718,904 - 4,741,317 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CEP55
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018131.5(CEP55):c.1269C>T (p.Ala423=) single nucleotide variant not provided [RCV000936442] Chr10:93528027 [GRCh38]
Chr10:95287784 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 copy number loss See cases [RCV000052564] Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2		 pathogenic
GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1 copy number loss See cases [RCV000052565] Chr10:93181201..101356779 [GRCh38]
Chr10:94940958..103116536 [GRCh37]
Chr10:94930948..103106526 [NCBI36]
Chr10:10q23.33-24.32		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 copy number loss See cases [RCV000137919] Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1		 pathogenic
GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) copy number loss not provided [RCV000767566] Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1		 likely pathogenic
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 copy number loss See cases [RCV000447362] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1		 pathogenic|drug response
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter) single nucleotide variant CEP55-related disorder [RCV003419872]|Inborn genetic diseases [RCV002524397]|Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV000504578]|not provided [RCV002527326] Chr10:93503185 [GRCh38]
Chr10:95262942 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter) single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV000504576] Chr10:93528032 [GRCh38]
Chr10:95287789 [GRCh37]
Chr10:10q23.33		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 copy number loss See cases [RCV000511278] Chr10:93186527..95820286 [GRCh37]
Chr10:10q23.32-23.33		 pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 copy number loss See cases [RCV000512315] Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2		 pathogenic
NM_018131.5(CEP55):c.1191+2T>C single nucleotide variant Inborn genetic diseases [RCV000622506] Chr10:93519809 [GRCh38]
Chr10:95279566 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_018131.5(CEP55):c.514dup (p.Ile172fs) duplication Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV000681554]|not provided [RCV002272327] Chr10:93507039..93507040 [GRCh38]
Chr10:95266796..95266797 [GRCh37]
Chr10:10q23.33		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_018131.5(CEP55):c.70G>A (p.Glu24Lys) single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV000736074] Chr10:93500121 [GRCh38]
Chr10:95259878 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.33(chr10:95152912-95275273)x3 copy number gain not provided [RCV000737265] Chr10:95152912..95275273 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_018131.5(CEP55):c.1272C>T (p.Ala424=) single nucleotide variant CEP55-related disorder [RCV003970861]|not provided [RCV000965811] Chr10:93528030 [GRCh38]
Chr10:95287787 [GRCh37]
Chr10:10q23.33		 benign
NC_000010.11:g.(?_93161309)_(93797823_?)del deletion Autosomal dominant epilepsy with auditory features [RCV001862461]|Epilepsy, familial temporal lobe, 1 [RCV001033707] Chr10:94921066..95557580 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018131.5(CEP55):c.910A>T (p.Ile304Leu) single nucleotide variant Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 [RCV000770959] Chr10:93517165 [GRCh38]
Chr10:95276922 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.295= (p.Thr99=) variation not provided [RCV000964645] Chr10:93503224 [GRCh38]
Chr10:95262981 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.33(chr10:95234481-95431148)x1 copy number loss not provided [RCV001006347] Chr10:95234481..95431148 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1133A>T (p.His378Leu) single nucleotide variant CEP55-related disorder [RCV003983983]|Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV001578873]|not provided [RCV002072280] Chr10:93519749 [GRCh38]
Chr10:95279506 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.1191+89A>G single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV001578874] Chr10:93519896 [GRCh38]
Chr10:95279653 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.175C>T (p.Leu59Phe) single nucleotide variant not provided [RCV000947270] Chr10:93500226 [GRCh38]
Chr10:95259983 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.514A>G (p.Ile172Val) single nucleotide variant not provided [RCV000962043] Chr10:93507042 [GRCh38]
Chr10:95266799 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.294C>T (p.Thr98=) single nucleotide variant not provided [RCV000909379] Chr10:93503223 [GRCh38]
Chr10:95262980 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.788G>A (p.Ser263Asn) single nucleotide variant not provided [RCV000895797] Chr10:93517043 [GRCh38]
Chr10:95276800 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter) single nucleotide variant CEP55-related disorder [RCV003983842]|Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV001175199] Chr10:93517062 [GRCh38]
Chr10:95276819 [GRCh37]
Chr10:10q23.33		 pathogenic|likely pathogenic
NM_018131.5(CEP55):c.307C>T (p.Gln103Ter) single nucleotide variant not provided [RCV001531075] Chr10:93503236 [GRCh38]
Chr10:95262993 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg) single nucleotide variant Inborn genetic diseases [RCV003169543]|Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV001328540]|not provided [RCV002546262] Chr10:93528035 [GRCh38]
Chr10:95287792 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.190C>T (p.Arg64Ter) single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV001375949] Chr10:93503119 [GRCh38]
Chr10:95262876 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_018131.5(CEP55):c.1373A>G (p.His458Arg) single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV001375950] Chr10:93528131 [GRCh38]
Chr10:95287888 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1147G>T (p.Glu383Ter) single nucleotide variant Abnormality of prenatal development or birth [RCV001814445] Chr10:93519763 [GRCh38]
Chr10:95279520 [GRCh37]
Chr10:10q23.33		 likely pathogenic
GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) copy number loss not specified [RCV002052882] Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1		 pathogenic
NM_018131.5(CEP55):c.379G>T (p.Val127Leu) single nucleotide variant not provided [RCV001991541] Chr10:93503308 [GRCh38]
Chr10:95263065 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.893G>A (p.Arg298Lys) single nucleotide variant CEP55-related disorder [RCV003976246]|not provided [RCV001886328] Chr10:93517148 [GRCh38]
Chr10:95276905 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_018131.5(CEP55):c.626C>T (p.Thr209Met) single nucleotide variant not provided [RCV001883187] Chr10:93515502 [GRCh38]
Chr10:95275259 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.294_295inv (p.Thr99Ala) inversion not provided [RCV002126956] Chr10:93503223..93503224 [GRCh38]
Chr10:95262980..95262981 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.171C>G (p.His57Gln) single nucleotide variant CEP55-related disorder [RCV003970872]|not provided [RCV002112595] Chr10:93500222 [GRCh38]
Chr10:95259979 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.204T>A (p.Ala68=) single nucleotide variant not provided [RCV002211612] Chr10:93503133 [GRCh38]
Chr10:95262890 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.295A>G (p.Thr99Ala) single nucleotide variant not provided [RCV002126172] Chr10:93503224 [GRCh38]
Chr10:95262981 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.1065+11G>A single nucleotide variant not provided [RCV002132105] Chr10:93518959 [GRCh38]
Chr10:95278716 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.961G>A (p.Glu321Lys) single nucleotide variant CEP55-related disorder [RCV003911274]|not provided [RCV002212318] Chr10:93517216 [GRCh38]
Chr10:95276973 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.730G>C (p.Ala244Pro) single nucleotide variant not provided [RCV002198135] Chr10:93516985 [GRCh38]
Chr10:95276742 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.1043G>A (p.Arg348Lys) single nucleotide variant CEP55-related disorder [RCV003978561]|not provided [RCV002198139] Chr10:93518926 [GRCh38]
Chr10:95278683 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.706T>C (p.Cys236Arg) single nucleotide variant CEP55-related disorder [RCV003984200]|not provided [RCV002117767] Chr10:93516961 [GRCh38]
Chr10:95276718 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.680G>A (p.Gly227Asp) single nucleotide variant CEP55-related disorder [RCV003923516]|not provided [RCV002198171] Chr10:93516935 [GRCh38]
Chr10:95276692 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.480C>T (p.Phe160=) single nucleotide variant not provided [RCV002203368] Chr10:93507008 [GRCh38]
Chr10:95266765 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.680-19G>A single nucleotide variant not provided [RCV002117815] Chr10:93516916 [GRCh38]
Chr10:95276673 [GRCh37]
Chr10:10q23.33		 benign
GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 copy number loss not provided [RCV002472645] Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33		 pathogenic
NM_018131.5(CEP55):c.323C>T (p.Thr108Met) single nucleotide variant Inborn genetic diseases [RCV002993010] Chr10:93503252 [GRCh38]
Chr10:95263009 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.908del (p.Lys303fs) deletion not provided [RCV002902937] Chr10:93517162 [GRCh38]
Chr10:95276919 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018131.5(CEP55):c.797G>A (p.Arg266Gln) single nucleotide variant Inborn genetic diseases [RCV002973962] Chr10:93517052 [GRCh38]
Chr10:95276809 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1136T>C (p.Val379Ala) single nucleotide variant not provided [RCV002614785] Chr10:93519752 [GRCh38]
Chr10:95279509 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.379G>A (p.Val127Ile) single nucleotide variant Inborn genetic diseases [RCV002937112]|Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV003146671]|not provided [RCV002914031] Chr10:93503308 [GRCh38]
Chr10:95263065 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1154G>A (p.Arg385Gln) single nucleotide variant Inborn genetic diseases [RCV002951554] Chr10:93519770 [GRCh38]
Chr10:95279527 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.806A>G (p.Tyr269Cys) single nucleotide variant Inborn genetic diseases [RCV002784088] Chr10:93517061 [GRCh38]
Chr10:95276818 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.462T>G (p.Thr154=) single nucleotide variant not provided [RCV002622706] Chr10:93506990 [GRCh38]
Chr10:95266747 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.242A>G (p.Asp81Gly) single nucleotide variant not provided [RCV002909723] Chr10:93503171 [GRCh38]
Chr10:95262928 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1192-5T>A single nucleotide variant not provided [RCV003007925] Chr10:93527945 [GRCh38]
Chr10:95287702 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.443C>T (p.Thr148Ile) single nucleotide variant Inborn genetic diseases [RCV002788453] Chr10:93503372 [GRCh38]
Chr10:95263129 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.55A>G (p.Ser19Gly) single nucleotide variant Inborn genetic diseases [RCV002827224] Chr10:93500106 [GRCh38]
Chr10:95259863 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.697A>C (p.Lys233Gln) single nucleotide variant Inborn genetic diseases [RCV002939641] Chr10:93516952 [GRCh38]
Chr10:95276709 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1109G>A (p.Arg370His) single nucleotide variant Inborn genetic diseases [RCV002964915] Chr10:93519725 [GRCh38]
Chr10:95279482 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.403G>A (p.Ala135Thr) single nucleotide variant Inborn genetic diseases [RCV002769938] Chr10:93503332 [GRCh38]
Chr10:95263089 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.1256G>A (p.Arg419Lys) single nucleotide variant Inborn genetic diseases [RCV002748419]|not provided [RCV003777719] Chr10:93528014 [GRCh38]
Chr10:95287771 [GRCh37]
Chr10:10q23.33		 likely benign|uncertain significance
NM_018131.5(CEP55):c.1306A>G (p.Ser436Gly) single nucleotide variant Inborn genetic diseases [RCV002672672] Chr10:93528064 [GRCh38]
Chr10:95287821 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.581A>G (p.Tyr194Cys) single nucleotide variant Inborn genetic diseases [RCV002964319] Chr10:93515457 [GRCh38]
Chr10:95275214 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.878A>G (p.His293Arg) single nucleotide variant Inborn genetic diseases [RCV003274106]|not provided [RCV002962371] Chr10:93517133 [GRCh38]
Chr10:95276890 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.976G>A (p.Glu326Lys) single nucleotide variant Inborn genetic diseases [RCV002719526] Chr10:93517231 [GRCh38]
Chr10:95276988 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1359C>A (p.Arg453=) single nucleotide variant not provided [RCV002605384] Chr10:93528117 [GRCh38]
Chr10:95287874 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.416T>C (p.Ile139Thr) single nucleotide variant Inborn genetic diseases [RCV002724425] Chr10:93503345 [GRCh38]
Chr10:95263102 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.895C>T (p.His299Tyr) single nucleotide variant Inborn genetic diseases [RCV002723340] Chr10:93517150 [GRCh38]
Chr10:95276907 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1270G>A (p.Ala424Thr) single nucleotide variant Inborn genetic diseases [RCV003201864] Chr10:93528028 [GRCh38]
Chr10:95287785 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.993+3A>C single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV003222283] Chr10:93517251 [GRCh38]
Chr10:95277008 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018131.5(CEP55):c.17C>G (p.Thr6Ser) single nucleotide variant Inborn genetic diseases [RCV003204781] Chr10:93500068 [GRCh38]
Chr10:95259825 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.907A>G (p.Lys303Glu) single nucleotide variant Inborn genetic diseases [RCV003202356] Chr10:93517162 [GRCh38]
Chr10:95276919 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.5C>T (p.Ser2Phe) single nucleotide variant Inborn genetic diseases [RCV003210088] Chr10:93500056 [GRCh38]
Chr10:95259813 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 copy number loss See cases [RCV003159569] Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_018131.5(CEP55):c.181G>A (p.Glu61Lys) single nucleotide variant Inborn genetic diseases [RCV003346984] Chr10:93500232 [GRCh38]
Chr10:95259989 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.1301A>G (p.Asn434Ser) single nucleotide variant Inborn genetic diseases [RCV003346869] Chr10:93528059 [GRCh38]
Chr10:95287816 [GRCh37]
Chr10:10q23.33		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 copy number gain not provided [RCV003484809] Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33		 uncertain significance
NM_018131.5(CEP55):c.1069C>T (p.Gln357Ter) single nucleotide variant not provided [RCV003849192] Chr10:93519685 [GRCh38]
Chr10:95279442 [GRCh37]
Chr10:10q23.33		 pathogenic
NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr) single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV003492970] Chr10:93500073 [GRCh38]
Chr10:95259830 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.715G>A (p.Asp239Asn) single nucleotide variant not provided [RCV003724393] Chr10:93516970 [GRCh38]
Chr10:95276727 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.1293T>C (p.Ala431=) single nucleotide variant not provided [RCV003724392] Chr10:93528051 [GRCh38]
Chr10:95287808 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.378C>T (p.Asp126=) single nucleotide variant not provided [RCV003727308] Chr10:93503307 [GRCh38]
Chr10:95263064 [GRCh37]
Chr10:10q23.33		 likely benign
GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 copy number loss not specified [RCV003986861] Chr10:90796994..100067505 [GRCh37]
Chr10:10q23.31-24.2		 pathogenic
GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 copy number loss not specified [RCV003986912] Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_018131.5(CEP55):c.1359C>T (p.Arg453=) single nucleotide variant CEP55-related disorder [RCV003949686] Chr10:93528117 [GRCh38]
Chr10:95287874 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.237G>A (p.Glu79=) single nucleotide variant CEP55-related disorder [RCV003934099] Chr10:93503166 [GRCh38]
Chr10:95262923 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.547C>T (p.Gln183Ter) single nucleotide variant Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome [RCV003990765] Chr10:93515423 [GRCh38]
Chr10:95275180 [GRCh37]
Chr10:10q23.33		 likely pathogenic
NM_018131.5(CEP55):c.641A>G (p.His214Arg) single nucleotide variant CEP55-related disorder [RCV003914570] Chr10:93515517 [GRCh38]
Chr10:95275274 [GRCh37]
Chr10:10q23.33		 benign
NM_018131.5(CEP55):c.284A>G (p.Tyr95Cys) single nucleotide variant Inborn genetic diseases [RCV004436346] Chr10:93503213 [GRCh38]
Chr10:95262970 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.406A>G (p.Thr136Ala) single nucleotide variant Inborn genetic diseases [RCV004436347] Chr10:93503335 [GRCh38]
Chr10:95263092 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.685C>G (p.Leu229Val) single nucleotide variant Inborn genetic diseases [RCV004436350] Chr10:93516940 [GRCh38]
Chr10:95276697 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.499A>G (p.Ile167Val) single nucleotide variant Inborn genetic diseases [RCV004436349] Chr10:93507027 [GRCh38]
Chr10:95266784 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.94G>A (p.Gly32Arg) single nucleotide variant Inborn genetic diseases [RCV004436351] Chr10:93500145 [GRCh38]
Chr10:95259902 [GRCh37]
Chr10:10q23.33		 uncertain significance
NM_018131.5(CEP55):c.449G>A (p.Arg150His) single nucleotide variant Inborn genetic diseases [RCV004614981] Chr10:93503378 [GRCh38]
Chr10:95263135 [GRCh37]
Chr10:10q23.33		 likely benign
NM_018131.5(CEP55):c.682T>C (p.Tyr228His) single nucleotide variant Inborn genetic diseases [RCV004614982] Chr10:93516937 [GRCh38]
Chr10:95276694 [GRCh37]
Chr10:10q23.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:671
Count of miRNA genes:551
Interacting mature miRNAs:617
Transcripts:ENST00000371485, ENST00000445435, ENST00000496302
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406912081GWAS561057_Hlobe attachment QTL GWAS561057 (human)0.000006lobe attachmentear measurement (CMO:0002667)109351513393515134Human
2314551GLUCO52_HGlucose level QTL 52 (human)1.4Glucose level1077605006103605006Human
407106155GWAS755131_Hbody height QTL GWAS755131 (human)1e-08body height (VT:0001253)body height (CMO:0000106)109351417893514179Human

Markers in Region
RH80316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371095,288,709 - 95,288,819UniSTSGRCh37
Build 361095,278,699 - 95,278,809RGDNCBI36
Celera1089,029,879 - 89,029,989RGD
Cytogenetic Map10q23.33UniSTS
HuRef1088,916,513 - 88,916,623UniSTS
GeneMap99-GB4 RH Map10445.29UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001127182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054366197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB091343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY788918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS158015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS588714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS588716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS588722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS588730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA545074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000371485   ⟹   ENSP00000360540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,496,612 - 93,529,092 (+)Ensembl
Ensembl Acc Id: ENST00000445435   ⟹   ENSP00000389150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,507,010 - 93,519,111 (+)Ensembl
Ensembl Acc Id: ENST00000496302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1093,517,207 - 93,520,277 (+)Ensembl
RefSeq Acc Id: NM_001127182   ⟹   NP_001120654
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
GRCh371095,256,369 - 95,288,849 (+)ENTREZGENE
HuRef1088,883,806 - 88,916,653 (+)ENTREZGENE
CHM1_11095,538,951 - 95,571,417 (+)NCBI
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018131   ⟹   NP_060601
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
GRCh371095,256,369 - 95,288,849 (+)ENTREZGENE
Build 361095,246,399 - 95,278,839 (+)NCBI Archive
HuRef1088,883,806 - 88,916,653 (+)ENTREZGENE
CHM1_11095,538,971 - 95,571,417 (+)NCBI
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539918   ⟹   XP_011538220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,500,147 - 93,529,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539919   ⟹   XP_011538221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539920   ⟹   XP_011538222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016372   ⟹   XP_016871861
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016373   ⟹   XP_016871862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425416   ⟹   XP_047281372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,612 - 93,529,092 (+)NCBI
RefSeq Acc Id: XM_054366192   ⟹   XP_054222167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
RefSeq Acc Id: XM_054366193   ⟹   XP_054222168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
RefSeq Acc Id: XM_054366194   ⟹   XP_054222169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
RefSeq Acc Id: XM_054366195   ⟹   XP_054222170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
RefSeq Acc Id: XM_054366196   ⟹   XP_054222171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,376,610 - 94,409,086 (+)NCBI
RefSeq Acc Id: XM_054366197   ⟹   XP_054222172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01094,380,146 - 94,409,086 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001120654 (Get FASTA)   NCBI Sequence Viewer  
  NP_060601 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538220 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538221 (Get FASTA)   NCBI Sequence Viewer  
  XP_011538222 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871861 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871862 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281372 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222167 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222168 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222169 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222170 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222171 (Get FASTA)   NCBI Sequence Viewer  
  XP_054222172 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH08947 (Get FASTA)   NCBI Sequence Viewer  
  AAX14687 (Get FASTA)   NCBI Sequence Viewer  
  BAA91670 (Get FASTA)   NCBI Sequence Viewer  
  BAD97215 (Get FASTA)   NCBI Sequence Viewer  
  BAE45243 (Get FASTA)   NCBI Sequence Viewer  
  BAG37915 (Get FASTA)   NCBI Sequence Viewer  
  CAE45837 (Get FASTA)   NCBI Sequence Viewer  
  CAJ29952 (Get FASTA)   NCBI Sequence Viewer  
  CAN87445 (Get FASTA)   NCBI Sequence Viewer  
  CAN87446 (Get FASTA)   NCBI Sequence Viewer  
  CAN87449 (Get FASTA)   NCBI Sequence Viewer  
  CAN87453 (Get FASTA)   NCBI Sequence Viewer  
  EAW50071 (Get FASTA)   NCBI Sequence Viewer  
  EAW50072 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000360540
  ENSP00000360540.3
  ENSP00000389150.1
GenBank Protein Q53EZ4 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001120654   ⟸   NM_001127182
- UniProtKB: Q9NVS7 (UniProtKB/Swiss-Prot),   Q96H32 (UniProtKB/Swiss-Prot),   Q6N034 (UniProtKB/Swiss-Prot),   Q5VY28 (UniProtKB/Swiss-Prot),   Q53EZ4 (UniProtKB/Swiss-Prot),   Q3MV20 (UniProtKB/Swiss-Prot),   Q32WF5 (UniProtKB/Swiss-Prot),   D3DR37 (UniProtKB/Swiss-Prot),   B2RDG8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060601   ⟸   NM_018131
- UniProtKB: Q9NVS7 (UniProtKB/Swiss-Prot),   Q96H32 (UniProtKB/Swiss-Prot),   Q6N034 (UniProtKB/Swiss-Prot),   Q5VY28 (UniProtKB/Swiss-Prot),   Q53EZ4 (UniProtKB/Swiss-Prot),   Q3MV20 (UniProtKB/Swiss-Prot),   Q32WF5 (UniProtKB/Swiss-Prot),   D3DR37 (UniProtKB/Swiss-Prot),   B2RDG8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011538221   ⟸   XM_011539919
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011538222   ⟸   XM_011539920
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011538220   ⟸   XM_011539918
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016871862   ⟸   XM_017016373
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016871861   ⟸   XM_017016372
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000360540   ⟸   ENST00000371485
Ensembl Acc Id: ENSP00000389150   ⟸   ENST00000445435
RefSeq Acc Id: XP_047281372   ⟸   XM_047425416
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222170   ⟸   XM_054366195
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222167   ⟸   XM_054366192
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222168   ⟸   XM_054366193
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222169   ⟸   XM_054366194
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222171   ⟸   XM_054366196
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054222172   ⟸   XM_054366197
- Peptide Label: isoform X1
Protein Domains
TSG101 and ALIX binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53EZ4-F1-model_v2 AlphaFold Q53EZ4 1-464 view protein structure

Promoters
RGD ID:7218193
Promoter ID:EPDNEW_H14841
Type:initiation region
Name:CEP55_1
Description:centrosomal protein 55
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14842  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,639 - 93,496,699EPDNEW
RGD ID:7218191
Promoter ID:EPDNEW_H14842
Type:initiation region
Name:CEP55_2
Description:centrosomal protein 55
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14841  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381093,496,873 - 93,496,933EPDNEW
RGD ID:6787452
Promoter ID:HG_KWN:10595
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127182,   NM_018131
Position:
Human AssemblyChrPosition (strand)Source
Build 361095,246,079 - 95,246,579 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1161 AgrOrtholog
COSMIC CEP55 COSMIC
Ensembl Genes ENSG00000138180 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000371485 ENTREZGENE
  ENST00000371485.8 UniProtKB/Swiss-Prot
  ENST00000445435.1 UniProtKB/TrEMBL
Gene3D-CATH Geminin coiled-coil domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nemo cc2-lz domain - 1d5 darpin complex UniProtKB/Swiss-Prot
GTEx ENSG00000138180 GTEx
HGNC ID HGNC:1161 ENTREZGENE
Human Proteome Map CEP55 Human Proteome Map
InterPro CEP55 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EABR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55165 UniProtKB/Swiss-Prot
NCBI Gene CEP55 ENTREZGENE
OMIM 610000 OMIM
PANTHER CENTROSOMAL PROTEIN OF 55 KDA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31838 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EABR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25475 PharmGKB
UniProt B2RDG8 ENTREZGENE
  CEP55_HUMAN UniProtKB/Swiss-Prot
  D3DR37 ENTREZGENE
  H0Y432_HUMAN UniProtKB/TrEMBL
  Q32WF5 ENTREZGENE
  Q3MV20 ENTREZGENE
  Q53EZ4 ENTREZGENE
  Q5VY28 ENTREZGENE
  Q6N034 ENTREZGENE
  Q96H32 ENTREZGENE
  Q9NVS7 ENTREZGENE
UniProt Secondary B2RDG8 UniProtKB/Swiss-Prot
  D3DR37 UniProtKB/Swiss-Prot
  Q32WF5 UniProtKB/Swiss-Prot
  Q3MV20 UniProtKB/Swiss-Prot
  Q5VY28 UniProtKB/Swiss-Prot
  Q6N034 UniProtKB/Swiss-Prot
  Q96H32 UniProtKB/Swiss-Prot
  Q9NVS7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 CEP55  centrosomal protein 55    centrosomal protein 55kDa  Symbol and/or name change 5135510 APPROVED