CDCA8 (cell division cycle associated 8) - Rat Genome Database

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Gene: CDCA8 (cell division cycle associated 8) Homo sapiens
Analyze
Symbol: CDCA8
Name: cell division cycle associated 8
RGD ID: 1346860
HGNC Page HGNC:14629
Description: Involved in mitotic metaphase chromosome alignment. Located in several cellular components, including intercellular bridge; midbody; and nuclear lumen. Part of chromosome passenger complex. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BOR; borealin; cell division cycle-associated protein 8; Dasra B; dasra-B; DasraB; FLJ10468; FLJ12042; hDasra-B; MESRGP; pluripotent embryonic stem cell-related gene 3 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC092647.3   LOC100287157   LOC100420644  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38137,692,516 - 37,709,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl137,692,481 - 37,709,719 (+)EnsemblGRCh38hg38GRCh38
GRCh37138,158,188 - 38,175,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36137,930,746 - 37,947,978 (+)NCBINCBI36Build 36hg18NCBI36
Build 34137,827,251 - 37,844,482NCBI
Celera136,436,198 - 36,453,412 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef136,275,336 - 36,292,634 (+)NCBIHuRef
CHM1_1138,274,230 - 38,291,508 (+)NCBICHM1_1
T2T-CHM13v2.0137,557,243 - 37,574,423 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antimycin A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-carotene  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (EXP,ISO)
chromium(6+)  (EXP,ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
DDE  (EXP)
diallyl trisulfide  (EXP)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethyl maleate  (ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
folic acid  (EXP,ISO)
FR900359  (EXP)
hydroxyurea  (EXP)
indole-3-methanol  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
lidocaine  (ISO)
methamphetamine  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
mocetinostat  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
ochratoxin A  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
tacrolimus hydrate  (ISO)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
toxaphene  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
vincaleukoblastine  (EXP)
zidovudine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Comprehensive Molecular Analyses of a Macrophage-Related Gene Signature With Regard to Prognosis, Immune Features, and Biomarkers for Immunotherapy in Hepatocellular Carcinoma Based on WGCNA and the LASSO Algorithm. Wang T, etal., Front Immunol. 2022 May 27;13:843408. doi: 10.3389/fimmu.2022.843408. eCollection 2022.
3. 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:9859993   PMID:12188893   PMID:12477932   PMID:14702039   PMID:15249581   PMID:15260989   PMID:15489334   PMID:15561729   PMID:15635413   PMID:16239925   PMID:16291752  
PMID:16427043   PMID:16436504   PMID:16547492   PMID:16565220   PMID:16571674   PMID:17099693   PMID:17207965   PMID:17241471   PMID:17483322   PMID:17716930   PMID:17881355   PMID:17956729  
PMID:18029348   PMID:18243099   PMID:18311593   PMID:18591255   PMID:18946085   PMID:19322201   PMID:19490893   PMID:19530738   PMID:19710015   PMID:19951914   PMID:20360068   PMID:20430883  
PMID:20562864   PMID:20739936   PMID:20803554   PMID:20929775   PMID:21051298   PMID:21554500   PMID:21873635   PMID:21988832   PMID:22724069   PMID:22797924   PMID:23945651   PMID:24144296  
PMID:24571573   PMID:24711643   PMID:24917673   PMID:24999758   PMID:25260804   PMID:25281560   PMID:25416956   PMID:25854549   PMID:26170459   PMID:26186194   PMID:26496610   PMID:27609421  
PMID:27880917   PMID:28025328   PMID:28514442   PMID:28700943   PMID:29499938   PMID:29568061   PMID:30033366   PMID:30142792   PMID:30431060   PMID:30945288   PMID:30953709   PMID:31091453  
PMID:31551363   PMID:31570499   PMID:31586073   PMID:31875977   PMID:32088244   PMID:32130760   PMID:32296183   PMID:32685508   PMID:32934012   PMID:33153400   PMID:33301849   PMID:33542211  
PMID:33961781   PMID:34079125   PMID:34117764   PMID:34373451   PMID:34438346   PMID:34780483   PMID:35094010   PMID:35271311   PMID:35575979   PMID:35915203   PMID:35944360   PMID:36089195  
PMID:36129980   PMID:36373674   PMID:36575184   PMID:36736316   PMID:36835656   PMID:36855818   PMID:36898512   PMID:36966392   PMID:37071682   PMID:37428386   PMID:37813876   PMID:37866880  
PMID:38943005  


Genomics

Comparative Map Data
CDCA8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38137,692,516 - 37,709,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl137,692,481 - 37,709,719 (+)EnsemblGRCh38hg38GRCh38
GRCh37138,158,188 - 38,175,391 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36137,930,746 - 37,947,978 (+)NCBINCBI36Build 36hg18NCBI36
Build 34137,827,251 - 37,844,482NCBI
Celera136,436,198 - 36,453,412 (+)NCBICelera
Cytogenetic Map1p34.3NCBI
HuRef136,275,336 - 36,292,634 (+)NCBIHuRef
CHM1_1138,274,230 - 38,291,508 (+)NCBICHM1_1
T2T-CHM13v2.0137,557,243 - 37,574,423 (+)NCBIT2T-CHM13v2.0
Cdca8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394124,812,258 - 124,830,710 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4124,812,258 - 124,833,104 (-)EnsemblGRCm39 Ensembl
GRCm384124,918,465 - 124,936,917 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4124,918,465 - 124,939,311 (-)EnsemblGRCm38mm10GRCm38
MGSCv374124,595,709 - 124,614,161 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364124,420,769 - 124,439,207 (-)NCBIMGSCv36mm8
Celera4123,240,998 - 123,259,215 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map457.93NCBI
Cdca8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85142,461,082 - 142,483,336 (-)NCBIGRCr8
mRatBN7.25137,176,414 - 137,198,686 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5137,176,417 - 137,198,629 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5139,879,673 - 139,902,403 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05141,649,678 - 141,672,408 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05141,656,859 - 141,679,587 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05142,911,310 - 142,933,536 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5142,911,305 - 142,933,526 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05146,680,981 - 146,700,067 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45144,251,164 - 144,276,352 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera5135,697,190 - 135,716,709 (-)NCBICelera
Cytogenetic Map5q36NCBI
Cdca8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545215,486,452 - 15,499,867 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545215,486,515 - 15,501,838 (+)NCBIChiLan1.0ChiLan1.0
CDCA8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21189,129,491 - 189,146,874 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11188,258,572 - 188,275,955 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0136,965,470 - 36,982,761 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1138,314,597 - 38,331,625 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl138,314,597 - 38,331,625 (+)Ensemblpanpan1.1panPan2
CDCA8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1154,796,980 - 4,809,914 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl154,798,197 - 4,809,658 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha155,044,396 - 5,057,330 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0154,931,395 - 4,944,330 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl154,931,471 - 4,944,307 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1154,790,802 - 4,803,734 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0154,857,151 - 4,870,085 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0154,873,734 - 4,886,669 (-)NCBIUU_Cfam_GSD_1.0
Cdca8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505854,070,308 - 54,086,901 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647419,895,640 - 19,912,933 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647419,895,681 - 19,912,451 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDCA8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl693,750,689 - 93,764,836 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1693,750,694 - 93,764,845 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CDCA8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12095,151,814 - 95,169,111 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2095,151,752 - 95,169,033 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603321,640,702 - 21,658,296 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdca8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476420,418,585 - 20,434,026 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476420,418,342 - 20,433,763 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDCA8
14 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3(chr1:37443860-37704418)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053658]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053658]|See cases [RCV000053658] Chr1:37443860..37704418 [GRCh38]
Chr1:37909461..38170090 [GRCh37]
Chr1:37682048..37942677 [NCBI36]
Chr1:1p34.3		 benign
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_001256875.2(CDCA8):c.799-8_799-6del deletion Neutrophil inclusion bodies [RCV002292657] Chr1:37708312..37708314 [GRCh38]
Chr1:38173984..38173986 [GRCh37]
Chr1:1p34.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3 copy number gain See cases [RCV000511268] Chr1:37766562..38727114 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001256875.2(CDCA8):c.401G>A (p.Arg134His) single nucleotide variant not specified [RCV004301503] Chr1:37700499 [GRCh38]
Chr1:38166171 [GRCh37]
Chr1:1p34.3		 likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001256875.2(CDCA8):c.798C>T (p.Ser266=) single nucleotide variant not provided [RCV000963416] Chr1:37707064 [GRCh38]
Chr1:38172736 [GRCh37]
Chr1:1p34.3		 likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_001256875.2(CDCA8):c.719G>A (p.Arg240Gln) single nucleotide variant not specified [RCV004289416] Chr1:37706985 [GRCh38]
Chr1:38172657 [GRCh37]
Chr1:1p34.3		 uncertain significance
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p34.3(chr1:36041366-39112237) copy number loss not specified [RCV002053236] Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NC_000001.10:g.(?_38003349)_(38273852_?)dup duplication not provided [RCV003122704] Chr1:38003349..38273852 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.61C>T (p.Leu21Phe) single nucleotide variant not specified [RCV004141647] Chr1:37692751 [GRCh38]
Chr1:38158423 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.790A>C (p.Lys264Gln) single nucleotide variant not specified [RCV004130216] Chr1:37707056 [GRCh38]
Chr1:38172728 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.345G>C (p.Lys115Asn) single nucleotide variant not specified [RCV004150407] Chr1:37700443 [GRCh38]
Chr1:38166115 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.118G>C (p.Glu40Gln) single nucleotide variant not specified [RCV004153595] Chr1:37692928 [GRCh38]
Chr1:38158600 [GRCh37]
Chr1:1p34.3		 likely benign
NM_001256875.2(CDCA8):c.285A>C (p.Glu95Asp) single nucleotide variant not specified [RCV004145832] Chr1:37698925 [GRCh38]
Chr1:38164597 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.166A>G (p.Ile56Val) single nucleotide variant not specified [RCV004216695] Chr1:37692976 [GRCh38]
Chr1:38158648 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.459G>C (p.Gln153His) single nucleotide variant not specified [RCV004354531] Chr1:37701789 [GRCh38]
Chr1:38167461 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.107T>C (p.Ile36Thr) single nucleotide variant not specified [RCV004357817] Chr1:37692917 [GRCh38]
Chr1:38158589 [GRCh37]
Chr1:1p34.3		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_001256875.2(CDCA8):c.496C>T (p.Arg166Cys) single nucleotide variant not specified [RCV004427891] Chr1:37703259 [GRCh38]
Chr1:38168931 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.589T>C (p.Phe197Leu) single nucleotide variant not specified [RCV004427892] Chr1:37705445 [GRCh38]
Chr1:38171117 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.536T>C (p.Val179Ala) single nucleotide variant not specified [RCV004609975] Chr1:37703299 [GRCh38]
Chr1:38168971 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.485A>G (p.Lys162Arg) single nucleotide variant not specified [RCV004606786] Chr1:37701815 [GRCh38]
Chr1:38167487 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_001256875.2(CDCA8):c.104G>A (p.Arg35Gln) single nucleotide variant not specified [RCV004609974] Chr1:37692914 [GRCh38]
Chr1:38158586 [GRCh37]
Chr1:1p34.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1416
Count of miRNA genes:542
Interacting mature miRNAs:579
Transcripts:ENST00000327331, ENST00000373055
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
407160533GWAS809509_Hacute myeloid leukemia QTL GWAS809509 (human)9e-15acute myeloid leukemia13769766737697668Human
407163679GWAS812655_Hacute myeloid leukemia QTL GWAS812655 (human)3e-20acute myeloid leukemia13769766737697668Human

Markers in Region
SHGC-56435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,174,921 - 38,175,014UniSTSGRCh37
Build 36137,947,508 - 37,947,601RGDNCBI36
Celera136,452,942 - 36,453,035RGD
Cytogenetic Map1p34.3UniSTS
HuRef136,292,164 - 36,292,257UniSTS
TNG Radiation Hybrid Map118394.0UniSTS
RH93640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,174,989 - 38,175,171UniSTSGRCh37
Build 36137,947,576 - 37,947,758RGDNCBI36
Celera136,453,010 - 36,453,192RGD
Cytogenetic Map1p34.3UniSTS
HuRef136,292,232 - 36,292,414UniSTS
GeneMap99-GB4 RH Map1115.9UniSTS
RH66677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,164,916 - 38,165,045UniSTSGRCh37
Build 36137,937,503 - 37,937,632RGDNCBI36
Celera136,442,956 - 36,443,085RGD
Cytogenetic Map1p34.3UniSTS
HuRef136,282,182 - 36,282,311UniSTS
GeneMap99-GB4 RH Map1115.9UniSTS
NCBI RH Map1251.9UniSTS
CDCA8_4535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37138,174,476 - 38,175,327UniSTSGRCh37
Build 36137,947,063 - 37,947,914RGDNCBI36
Celera136,452,497 - 36,453,348RGD
HuRef136,291,719 - 36,292,570UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2785 2248 4972 1726 2351 6 624 1950 465 2269 7297 6465 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001256875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY508815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000327331   ⟹   ENSP00000316121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,692,481 - 37,709,713 (+)Ensembl
Ensembl Acc Id: ENST00000373055   ⟹   ENSP00000362146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl137,692,516 - 37,709,719 (+)Ensembl
RefSeq Acc Id: NM_001256875   ⟹   NP_001243804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,692,516 - 37,709,719 (+)NCBI
GRCh37138,158,073 - 38,175,391 (+)NCBI
HuRef136,275,336 - 36,292,634 (+)NCBI
CHM1_1138,274,230 - 38,291,508 (+)NCBI
T2T-CHM13v2.0137,557,243 - 37,574,423 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018101   ⟹   NP_060571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38137,692,516 - 37,709,719 (+)NCBI
GRCh37138,158,073 - 38,175,391 (+)NCBI
Build 36137,930,746 - 37,947,978 (+)NCBI Archive
HuRef136,275,336 - 36,292,634 (+)NCBI
CHM1_1138,274,230 - 38,291,508 (+)NCBI
T2T-CHM13v2.0137,557,243 - 37,574,423 (+)NCBI
Sequence:
RefSeq Acc Id: NP_060571   ⟸   NM_018101
- UniProtKB: Q9NVW5 (UniProtKB/Swiss-Prot),   Q96AM3 (UniProtKB/Swiss-Prot),   Q53HN1 (UniProtKB/Swiss-Prot),   Q53HL2 (UniProtKB/Swiss-Prot),   D3DPT4 (UniProtKB/Swiss-Prot),   A8K7A2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243804   ⟸   NM_001256875
- UniProtKB: Q9NVW5 (UniProtKB/Swiss-Prot),   Q96AM3 (UniProtKB/Swiss-Prot),   Q53HN1 (UniProtKB/Swiss-Prot),   Q53HL2 (UniProtKB/Swiss-Prot),   D3DPT4 (UniProtKB/Swiss-Prot),   A8K7A2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000362146   ⟸   ENST00000373055
Ensembl Acc Id: ENSP00000316121   ⟸   ENST00000327331
Protein Domains
Borealin C-terminal   Borealin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q53HL2-F1-model_v2 AlphaFold Q53HL2 1-280 view protein structure

Promoters
RGD ID:6855020
Promoter ID:EPDNEW_H675
Type:initiation region
Name:CDCA8_1
Description:cell division cycle associated 8
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
GRCh38137,692,516 - 37,692,576EPDNEW
RGD ID:6784729
Promoter ID:HG_KWN:2064
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:ENST00000327331,   ENST00000373055,   OTTHUMT00000012487,   OTTHUMT00000012492,   OTTHUMT00000012493,   OTTHUMT00000091272,   OTTHUMT00000091273,   UC001CBQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36137,929,791 - 37,930,852 (-)MPROMDB
RGD ID:6850882
Promoter ID:EP73236
Type:initiation region
Name:HS_CDCA8
Description:Cell division cycle associated 8.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36137,930,755 - 37,930,815EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14629 AgrOrtholog
COSMIC CDCA8 COSMIC
Ensembl Genes ENSG00000134690 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000327331 ENTREZGENE
  ENST00000327331.2 UniProtKB/Swiss-Prot
  ENST00000373055 ENTREZGENE
  ENST00000373055.6 UniProtKB/Swiss-Prot
Gene3D-CATH 6.10.140.560 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.250.1900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134690 GTEx
HGNC ID HGNC:14629 ENTREZGENE
Human Proteome Map CDCA8 Human Proteome Map
InterPro Borealin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Borealin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cell_div_borealin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55143 UniProtKB/Swiss-Prot
NCBI Gene CDCA8 ENTREZGENE
OMIM 609977 OMIM
PANTHER AUSTRALIN, ISOFORM A-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BOREALIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Borealin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nbl1_Borealin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26281 PharmGKB
UniProt A8K7A2 ENTREZGENE, UniProtKB/TrEMBL
  BOREA_HUMAN UniProtKB/Swiss-Prot
  D3DPT4 ENTREZGENE
  Q53HL2 ENTREZGENE
  Q53HN1 ENTREZGENE
  Q96AM3 ENTREZGENE
  Q9NVW5 ENTREZGENE
UniProt Secondary D3DPT4 UniProtKB/Swiss-Prot
  Q53HN1 UniProtKB/Swiss-Prot
  Q96AM3 UniProtKB/Swiss-Prot
  Q9NVW5 UniProtKB/Swiss-Prot