CCT8 (chaperonin containing TCP1 subunit 8) - Rat Genome Database

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Gene: CCT8 (chaperonin containing TCP1 subunit 8) Homo sapiens
Analyze
Symbol: CCT8
Name: chaperonin containing TCP1 subunit 8
RGD ID: 1313488
HGNC Page HGNC:1623
Description: Enables protein folding chaperone. Involved in chaperone mediated protein folding independent of cofactor and protein stabilization. Located in centrosome; cytoplasm; and microtubule. Part of chaperonin-containing T-complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C21orf112; CCT-theta; Cctq; chaperonin containing T-complex polypeptide 1 subunit 8; chaperonin containing TCP1, subunit 8 (theta); chromosome 21 open reading frame 112; D21S246; KIAA0002; PRED71; renal carcinoma antigen NY-REN-15; T-complex protein 1 subunit theta; T-complex protein 1, theta subunit; TCP-1-theta
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CCT8P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382129,056,326 - 29,073,648 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2129,055,805 - 29,073,797 (-)EnsemblGRCh38hg38GRCh38
GRCh372130,428,647 - 30,445,969 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362129,350,518 - 29,367,881 (-)NCBINCBI36Build 36hg18NCBI36
Build 342129,350,517 - 29,367,881NCBI
Celera2115,612,113 - 15,629,468 (-)NCBICelera
Cytogenetic Map21q21.3NCBI
HuRef2115,834,853 - 15,852,223 (-)NCBIHuRef
CHM1_12129,990,996 - 30,008,352 (-)NCBICHM1_1
T2T-CHM13v2.02127,419,768 - 27,437,088 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
4,4'-sulfonyldiphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
amitrole  (ISO)
aniline  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bleomycin A2  (ISO)
Brodifacoum  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chromium(6+)  (ISO)
cisplatin  (ISO)
CU-O LINKAGE  (EXP)
Cuprizon  (EXP)
DDE  (EXP)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (ISO)
fenvalerate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furfural  (EXP)
glyphosate  (ISO)
haloperidol  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (EXP)
lovastatin  (ISO)
methimazole  (ISO)
miconazole  (ISO)
microcystin RR  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
ochratoxin A  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
perfluorohexanesulfonic acid  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
resveratrol  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (ISO)
tanespimycin  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
vinclozolin  (ISO)
warfarin  (ISO)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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:7584026   PMID:7584028   PMID:7890169   PMID:8125298   PMID:8590283   PMID:10508479   PMID:10748209   PMID:10830953   PMID:11532003   PMID:12477932   PMID:14532270   PMID:15342556  
PMID:15489334   PMID:15592455   PMID:16021519   PMID:16085932   PMID:16344560   PMID:16497536   PMID:16780588   PMID:16916647   PMID:17314511   PMID:17500595   PMID:17550899   PMID:17643375  
PMID:18029348   PMID:18775504   PMID:18782753   PMID:19056867   PMID:19135240   PMID:19156129   PMID:19380743   PMID:19738201   PMID:20080638   PMID:20085233   PMID:20193073   PMID:20305087  
PMID:20458337   PMID:20467437   PMID:20473970   PMID:20585571   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21319273   PMID:21525035   PMID:21654808   PMID:21832049   PMID:21873635  
PMID:21942715   PMID:22079093   PMID:22133715   PMID:22145905   PMID:22268729   PMID:22337587   PMID:22623428   PMID:22810585   PMID:22863883   PMID:22939629   PMID:23011926   PMID:23022380  
PMID:23184937   PMID:23349634   PMID:23376485   PMID:23383273   PMID:23398456   PMID:23438482   PMID:23443559   PMID:23455922   PMID:23658844   PMID:23686814   PMID:23752268   PMID:24169447  
PMID:24337577   PMID:24366813   PMID:24711643   PMID:24927568   PMID:24981860   PMID:25144556   PMID:25147182   PMID:25192599   PMID:25306918   PMID:25324306   PMID:25342745   PMID:25437307  
PMID:25467444   PMID:25468996   PMID:25499913   PMID:25515538   PMID:25544563   PMID:25631074   PMID:25737280   PMID:25756610   PMID:25817432   PMID:25852190   PMID:25921289   PMID:25940091  
PMID:25944111   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26217791   PMID:26304164   PMID:26344197   PMID:26460568   PMID:26496610   PMID:26549023   PMID:26618866   PMID:26638075  
PMID:26641092   PMID:26693507   PMID:26718209   PMID:26811472   PMID:26816005   PMID:26831064   PMID:26912792   PMID:26972000   PMID:26990986   PMID:27025967   PMID:27114451   PMID:27129302  
PMID:27158335   PMID:27353360   PMID:27375898   PMID:27462432   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27705803   PMID:27892468   PMID:28302793   PMID:28330616  
PMID:28443643   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28561026   PMID:28581483   PMID:28675297   PMID:28685749   PMID:28700943   PMID:28718761   PMID:28902428   PMID:29128334  
PMID:29229926   PMID:29298432   PMID:29331416   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29531219   PMID:29564676   PMID:29568061   PMID:29620162   PMID:29676528   PMID:29791485  
PMID:29795372   PMID:29844126   PMID:29845934   PMID:29955894   PMID:29969578   PMID:29991511   PMID:30021884   PMID:30033366   PMID:30097533   PMID:30196744   PMID:30209976   PMID:30274258  
PMID:30352685   PMID:30425250   PMID:30442662   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30585729   PMID:30619335   PMID:30699358   PMID:30711629   PMID:30745168   PMID:30833792  
PMID:30884312   PMID:30890647   PMID:30940648   PMID:30948266   PMID:30955883   PMID:31046837   PMID:31091453   PMID:31267705   PMID:31300519   PMID:31324722   PMID:31405213   PMID:31409639  
PMID:31452512   PMID:31501420   PMID:31519766   PMID:31527615   PMID:31586073   PMID:31620119   PMID:31665637   PMID:31685992   PMID:31732153   PMID:31839598   PMID:31980649   PMID:31995728  
PMID:32129710   PMID:32416067   PMID:32513696   PMID:32529326   PMID:32552912   PMID:32683582   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32788342   PMID:32807901   PMID:32814053  
PMID:32850835   PMID:32963011   PMID:32994395   PMID:33022573   PMID:33024031   PMID:33137104   PMID:33226137   PMID:33239621   PMID:33301849   PMID:33306668   PMID:33397691   PMID:33545068  
PMID:33567341   PMID:33711283   PMID:33729478   PMID:33762435   PMID:33863777   PMID:33916271   PMID:33961781   PMID:34004371   PMID:34079125   PMID:34185411   PMID:34189442   PMID:34316702  
PMID:34349018   PMID:34428256   PMID:34581821   PMID:34645483   PMID:34687317   PMID:34709266   PMID:34728620   PMID:34732716   PMID:34795231   PMID:35016035   PMID:35031058   PMID:35063084  
PMID:35102251   PMID:35122331   PMID:35235311   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35530310   PMID:35545047   PMID:35546148   PMID:35562734  
PMID:35563538   PMID:35676659   PMID:35696571   PMID:35776542   PMID:35777956   PMID:35831314   PMID:35844135   PMID:35944360   PMID:35973513   PMID:35973989   PMID:36042349   PMID:36055981  
PMID:36057605   PMID:36114006   PMID:36129980   PMID:36168627   PMID:36180891   PMID:36199071   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36282215   PMID:36373674   PMID:36414381  
PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36584595   PMID:36610398   PMID:36762613   PMID:36896912   PMID:36912080   PMID:36929488   PMID:36964488   PMID:37024974  
PMID:37039823   PMID:37059091   PMID:37059927   PMID:37071682   PMID:37105989   PMID:37108203   PMID:37120454   PMID:37132043   PMID:37151849   PMID:37223481   PMID:37314216   PMID:37317656  
PMID:37448957   PMID:37536630   PMID:37667382   PMID:37689310   PMID:37774976   PMID:37788672   PMID:37827155   PMID:37929963   PMID:38113892   PMID:38172120   PMID:38245532   PMID:38280479  
PMID:38334954   PMID:39231216   PMID:39358380   PMID:39422127   PMID:39501047  


Genomics

Comparative Map Data
CCT8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382129,056,326 - 29,073,648 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2129,055,805 - 29,073,797 (-)EnsemblGRCh38hg38GRCh38
GRCh372130,428,647 - 30,445,969 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362129,350,518 - 29,367,881 (-)NCBINCBI36Build 36hg18NCBI36
Build 342129,350,517 - 29,367,881NCBI
Celera2115,612,113 - 15,629,468 (-)NCBICelera
Cytogenetic Map21q21.3NCBI
HuRef2115,834,853 - 15,852,223 (-)NCBIHuRef
CHM1_12129,990,996 - 30,008,352 (-)NCBICHM1_1
T2T-CHM13v2.02127,419,768 - 27,437,088 (-)NCBIT2T-CHM13v2.0
Cct8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391687,280,213 - 87,292,757 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1687,280,214 - 87,292,761 (-)EnsemblGRCm39 Ensembl
GRCm381687,483,325 - 87,495,869 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1687,483,326 - 87,495,873 (-)EnsemblGRCm38mm10GRCm38
MGSCv371687,483,570 - 87,496,114 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361687,372,523 - 87,385,053 (-)NCBIMGSCv36mm8
Celera1687,677,894 - 87,690,438 (-)NCBICelera
Cytogenetic Map16C3.3NCBI
cM Map1649.57NCBI
Cct8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81140,196,619 - 40,208,328 (-)NCBIGRCr8
mRatBN7.21126,710,370 - 26,722,079 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1126,710,370 - 26,722,079 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1135,408,323 - 35,420,052 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01128,108,576 - 28,120,305 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01127,297,511 - 27,309,240 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01127,130,172 - 27,141,881 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1127,130,172 - 27,141,881 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01130,755,620 - 30,767,329 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41127,233,711 - 27,245,369 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11127,233,709 - 27,245,381 (-)NCBI
Celera1126,462,714 - 26,474,420 (-)NCBICelera
Cytogenetic Map11q11NCBI
Cct8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540728,414,583 - 28,428,215 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540728,414,583 - 28,427,964 (-)NCBIChiLan1.0ChiLan1.0
CCT8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22225,240,125 - 25,258,138 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12120,098,602 - 20,116,554 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02115,489,698 - 15,507,292 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12128,878,113 - 28,895,912 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2128,878,113 - 28,895,912 (-)Ensemblpanpan1.1panPan2
CCT8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13124,061,185 - 24,075,002 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3124,061,252 - 24,075,364 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3124,054,512 - 24,068,293 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03124,174,970 - 24,188,795 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3124,174,967 - 24,189,157 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13124,125,427 - 24,139,220 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03124,127,229 - 24,141,032 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03124,598,553 - 24,612,366 (-)NCBIUU_Cfam_GSD_1.0
Cct8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497124,505,117 - 24,518,165 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650012,949,563 - 12,965,064 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650012,949,563 - 12,962,699 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCT8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13192,407,735 - 192,423,568 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113192,407,831 - 192,423,466 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213202,710,318 - 202,726,009 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCT8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1263,151,783 - 63,169,249 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl263,151,481 - 63,169,098 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660715,736,497 - 5,754,304 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cct8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474517,030,539 - 17,043,637 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCT8
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 copy number loss See cases [RCV000052798] Chr21:13194345..29257208 [GRCh38]
Chr21:14566666..30629529 [GRCh37]
Chr21:13488537..29551400 [NCBI36]
Chr21:21q11.2-21.3
pathogenic
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 copy number loss See cases [RCV000142217] Chr21:19423169..31841150 [GRCh38]
Chr21:20795486..33213462 [GRCh37]
Chr21:19717357..32135333 [NCBI36]
Chr21:21q21.1-22.11
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1 copy number loss See cases [RCV000143779] Chr21:26773248..29573178 [GRCh38]
Chr21:28145567..30945498 [GRCh37]
Chr21:27067438..29867369 [NCBI36]
Chr21:21q21.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) copy number loss Monosomy 21 [RCV000225665] Chr21:21754822..32380347 [GRCh38]
Chr21:21q21.1-22.11
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1 copy number loss See cases [RCV000510889] Chr21:30120768..30533959 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1210A>G (p.Arg404Gly) single nucleotide variant not specified [RCV004309815] Chr21:29062130 [GRCh38]
Chr21:30434451 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3 copy number gain not provided [RCV000741530] Chr21:30214872..34896962 [GRCh37]
Chr21:21q21.3-22.11
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_006585.4(CCT8):c.1225G>A (p.Val409Ile) single nucleotide variant not provided [RCV000948082] Chr21:29061555 [GRCh38]
Chr21:30433876 [GRCh37]
Chr21:21q21.3
benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3(chr21:29859153-30437842)x3 copy number gain not provided [RCV000846888] Chr21:29859153..30437842 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1 copy number loss not provided [RCV001007118] Chr21:27826100..32468109 [GRCh37]
Chr21:21q21.3-22.11
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3(chr21:30394538-30471857)x1 copy number loss not provided [RCV001259405] Chr21:30394538..30471857 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3(chr21:30178276-30550204) copy number gain not specified [RCV002052730] Chr21:30178276..30550204 [GRCh37]
Chr21:21q21.3
uncertain significance
Single allele duplication not specified [RCV002286385] Chr21:28158347..29192300 [GRCh38]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.474T>A (p.Asp158Glu) single nucleotide variant not specified [RCV004121903] Chr21:29066979 [GRCh38]
Chr21:30439300 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3 copy number gain not provided [RCV002475687] Chr21:29243314..32472073 [GRCh37]
Chr21:21q21.3-22.11
uncertain significance
NM_006585.4(CCT8):c.992C>T (p.Thr331Ile) single nucleotide variant not specified [RCV004154077] Chr21:29062506 [GRCh38]
Chr21:30434827 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1214A>T (p.Asp405Val) single nucleotide variant not specified [RCV004095297] Chr21:29061566 [GRCh38]
Chr21:30433887 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.211A>G (p.Thr71Ala) single nucleotide variant not specified [RCV004224639] Chr21:29069443 [GRCh38]
Chr21:30441764 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1603C>T (p.Pro535Ser) single nucleotide variant not specified [RCV004103776] Chr21:29056519 [GRCh38]
Chr21:30428840 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.302C>T (p.Thr101Ile) single nucleotide variant not specified [RCV004091508] Chr21:29067635 [GRCh38]
Chr21:30439956 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.937G>A (p.Val313Met) single nucleotide variant not specified [RCV004219197] Chr21:29063356 [GRCh38]
Chr21:30435677 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.131G>A (p.Arg44His) single nucleotide variant not specified [RCV004091533] Chr21:29070267 [GRCh38]
Chr21:30442588 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.200A>C (p.Asn67Thr) single nucleotide variant not specified [RCV004191908] Chr21:29069454 [GRCh38]
Chr21:30441775 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.442T>C (p.Cys148Arg) single nucleotide variant not specified [RCV004182344] Chr21:29067011 [GRCh38]
Chr21:30439332 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.694A>G (p.Thr232Ala) single nucleotide variant not specified [RCV004163079] Chr21:29065036 [GRCh38]
Chr21:30437357 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.34G>A (p.Ala12Thr) single nucleotide variant not specified [RCV004164936] Chr21:29073557 [GRCh38]
Chr21:30445878 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.649G>T (p.Val217Leu) single nucleotide variant not specified [RCV004075573] Chr21:29065081 [GRCh38]
Chr21:30437402 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1127T>G (p.Val376Gly) single nucleotide variant not specified [RCV004279171] Chr21:29062213 [GRCh38]
Chr21:30434534 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.22G>C (p.Ala8Pro) single nucleotide variant not specified [RCV004257473] Chr21:29073569 [GRCh38]
Chr21:30445890 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1351G>A (p.Ala451Thr) single nucleotide variant not specified [RCV004257040] Chr21:29061351 [GRCh38]
Chr21:30433672 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.53G>A (p.Gly18Glu) single nucleotide variant not specified [RCV004271303] Chr21:29073538 [GRCh38]
Chr21:30445859 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1372G>A (p.Val458Ile) single nucleotide variant not specified [RCV004322734] Chr21:29061330 [GRCh38]
Chr21:30433651 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.545T>C (p.Leu182Pro) single nucleotide variant not specified [RCV004338251] Chr21:29066908 [GRCh38]
Chr21:30439229 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3 copy number gain not provided [RCV003485220] Chr21:20408138..32852758 [GRCh37]
Chr21:21q21.1-22.11
pathogenic
GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3 copy number gain not provided [RCV003485221] Chr21:21437700..30474088 [GRCh37]
Chr21:21q21.1-21.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
NM_006585.4(CCT8):c.107G>T (p.Cys36Phe) single nucleotide variant not specified [RCV004433096] Chr21:29070291 [GRCh38]
Chr21:30442612 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.860G>T (p.Gly287Val) single nucleotide variant not specified [RCV004433103] Chr21:29063433 [GRCh38]
Chr21:30435754 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1428A>T (p.Lys476Asn) single nucleotide variant not specified [RCV004433099] Chr21:29061274 [GRCh38]
Chr21:30433595 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.43C>T (p.Leu15Phe) single nucleotide variant not specified [RCV004433100] Chr21:29073548 [GRCh38]
Chr21:30445869 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.470T>C (p.Ile157Thr) single nucleotide variant not specified [RCV004433101] Chr21:29066983 [GRCh38]
Chr21:30439304 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.89A>T (p.Tyr30Phe) single nucleotide variant not specified [RCV004433104] Chr21:29070309 [GRCh38]
Chr21:30442630 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1340C>T (p.Ala447Val) single nucleotide variant not specified [RCV004433097] Chr21:29061362 [GRCh38]
Chr21:30433683 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.565T>C (p.Ser189Pro) single nucleotide variant not specified [RCV004433102] Chr21:29066775 [GRCh38]
Chr21:30439096 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.976A>G (p.Lys326Glu) single nucleotide variant not specified [RCV004433105] Chr21:29062522 [GRCh38]
Chr21:30434843 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_006585.4(CCT8):c.1352C>T (p.Ala451Val) single nucleotide variant not specified [RCV004433098] Chr21:29061350 [GRCh38]
Chr21:30433671 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.871G>A (p.Val291Ile) single nucleotide variant not specified [RCV004606426] Chr21:29063422 [GRCh38]
Chr21:30435743 [GRCh37]
Chr21:21q21.3
likely benign
NM_006585.4(CCT8):c.306C>G (p.Asn102Lys) single nucleotide variant not specified [RCV004606427] Chr21:29067631 [GRCh38]
Chr21:30439952 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q21.1-22.11(chr21:20633473-32127174)x1 copy number loss not provided [RCV004819908] Chr21:20633473..32127174 [GRCh37]
Chr21:21q21.1-22.11
uncertain significance
NM_006585.4(CCT8):c.925_929del (p.Asn309fs) microsatellite not provided [RCV004997134] Chr21:29063364..29063368 [GRCh38]
Chr21:30435685..30435689 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1325C>G (p.Ala442Gly) single nucleotide variant not specified [RCV004898740] Chr21:29061377 [GRCh38]
Chr21:30433698 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.892G>A (p.Ala298Thr) single nucleotide variant not specified [RCV004898741] Chr21:29063401 [GRCh38]
Chr21:30435722 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1123A>G (p.Ile375Val) single nucleotide variant not specified [RCV004898742] Chr21:29062217 [GRCh38]
Chr21:30434538 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.1492C>A (p.Leu498Ile) single nucleotide variant not specified [RCV004898743] Chr21:29060618 [GRCh38]
Chr21:30432939 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.679A>G (p.Thr227Ala) single nucleotide variant not specified [RCV004898744] Chr21:29065051 [GRCh38]
Chr21:30437372 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_006585.4(CCT8):c.299G>A (p.Gly100Asp) single nucleotide variant not specified [RCV004898745] Chr21:29067638 [GRCh38]
Chr21:30439959 [GRCh37]
Chr21:21q21.3
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:839
Count of miRNA genes:414
Interacting mature miRNAs:456
Transcripts:ENST00000286788, ENST00000431234, ENST00000432178, ENST00000470450, ENST00000475205, ENST00000480359, ENST00000481059, ENST00000484403, ENST00000494296, ENST00000496121, ENST00000540844, ENST00000542732
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human

Markers in Region
AL033864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371146,676,255 - 146,676,405UniSTSGRCh37
Build 361145,142,879 - 145,143,029RGDNCBI36
Celera1122,308,444 - 122,308,594RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef1120,088,759 - 120,088,909UniSTS
D21S388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,446,591 - 30,446,710UniSTSGRCh37
Build 362129,368,462 - 29,368,581RGDNCBI36
Celera2115,630,049 - 15,630,168RGD
Cytogenetic Map21q22.11UniSTS
HuRef2115,852,804 - 15,852,923UniSTS
D5S2639  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,428,678 - 30,428,812UniSTSGRCh37
GRCh371146,674,736 - 146,674,871UniSTSGRCh37
Build 361145,141,360 - 145,141,495RGDNCBI36
Celera2115,612,144 - 15,612,278UniSTS
Celera1122,309,978 - 122,310,113RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map1q21.1UniSTS
HuRef2115,834,884 - 15,835,018UniSTS
HuRef1120,087,240 - 120,087,375UniSTS
GeneMap99-G3 RH Map21652.0UniSTS
RH25243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,434,475 - 30,435,735UniSTSGRCh37
Celera2115,617,935 - 15,619,195UniSTS
Cytogenetic Map21q22.11UniSTS
HuRef2115,840,646 - 15,841,906UniSTS
GeneMap99-GB4 RH Map21144.61UniSTS
SHGC-51868  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.11UniSTS
TNG Radiation Hybrid Map217856.0UniSTS


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 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF129075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL163249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP248736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU932439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D42052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB301557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC298601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z37163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000286788   ⟹   ENSP00000286788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,056,326 - 29,073,648 (-)Ensembl
Ensembl Acc Id: ENST00000431234   ⟹   ENSP00000416832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,062,209 - 29,073,565 (-)Ensembl
Ensembl Acc Id: ENST00000432178   ⟹   ENSP00000407748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,055,805 - 29,061,376 (-)Ensembl
Ensembl Acc Id: ENST00000470450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,056,324 - 29,073,639 (-)Ensembl
Ensembl Acc Id: ENST00000475205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,062,169 - 29,063,468 (-)Ensembl
Ensembl Acc Id: ENST00000480359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,062,128 - 29,062,737 (-)Ensembl
Ensembl Acc Id: ENST00000481059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,065,076 - 29,072,236 (-)Ensembl
Ensembl Acc Id: ENST00000484403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,065,060 - 29,073,615 (-)Ensembl
Ensembl Acc Id: ENST00000494296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,067,590 - 29,073,432 (-)Ensembl
Ensembl Acc Id: ENST00000496121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,056,324 - 29,062,867 (-)Ensembl
Ensembl Acc Id: ENST00000540844   ⟹   ENSP00000442730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,056,322 - 29,073,797 (-)Ensembl
Ensembl Acc Id: ENST00000626972   ⟹   ENSP00000486921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,056,329 - 29,073,351 (-)Ensembl
RefSeq Acc Id: NM_001282907   ⟹   NP_001269836
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,056,326 - 29,073,648 (-)NCBI
HuRef2115,834,849 - 15,852,331 (-)NCBI
CHM1_12129,990,992 - 30,008,460 (-)NCBI
T2T-CHM13v2.02127,419,768 - 27,437,088 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282908   ⟹   NP_001269837
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,056,326 - 29,073,648 (-)NCBI
HuRef2115,834,849 - 15,852,331 (-)NCBI
CHM1_12129,990,992 - 30,008,460 (-)NCBI
T2T-CHM13v2.02127,419,768 - 27,437,088 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282909   ⟹   NP_001269838
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,056,326 - 29,073,648 (-)NCBI
HuRef2115,834,849 - 15,852,331 (-)NCBI
CHM1_12129,990,992 - 30,008,460 (-)NCBI
T2T-CHM13v2.02127,419,768 - 27,437,088 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006585   ⟹   NP_006576
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,056,326 - 29,073,648 (-)NCBI
GRCh372130,428,647 - 30,446,010 (-)NCBI
Build 362129,350,518 - 29,367,881 (-)NCBI Archive
Celera2115,612,113 - 15,629,468 (-)RGD
HuRef2115,834,849 - 15,852,331 (-)NCBI
CHM1_12129,990,992 - 30,008,460 (-)NCBI
T2T-CHM13v2.02127,419,768 - 27,437,088 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440668   ⟹   XP_047296624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,056,326 - 29,073,648 (-)NCBI
RefSeq Acc Id: NP_006576   ⟸   NM_006585
- Peptide Label: isoform 1
- UniProtKB: B4DQH4 (UniProtKB/Swiss-Prot),   B4DEM7 (UniProtKB/Swiss-Prot),   A6NN54 (UniProtKB/Swiss-Prot),   Q4VBP8 (UniProtKB/Swiss-Prot),   P50990 (UniProtKB/Swiss-Prot),   Q53HU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269838   ⟸   NM_001282909
- Peptide Label: isoform 4
- UniProtKB: Q53HU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269837   ⟸   NM_001282908
- Peptide Label: isoform 3
- UniProtKB: Q7Z759 (UniProtKB/TrEMBL),   Q53HU0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269836   ⟸   NM_001282907
- Peptide Label: isoform 2
- UniProtKB: Q53HU0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000486921   ⟸   ENST00000626972
Ensembl Acc Id: ENSP00000286788   ⟸   ENST00000286788
Ensembl Acc Id: ENSP00000416832   ⟸   ENST00000431234
Ensembl Acc Id: ENSP00000407748   ⟸   ENST00000432178
Ensembl Acc Id: ENSP00000442730   ⟸   ENST00000540844
RefSeq Acc Id: XP_047296624   ⟸   XM_047440668
- Peptide Label: isoform X1
- UniProtKB: Q53HU0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50990-F1-model_v2 AlphaFold P50990 1-548 view protein structure

Promoters
RGD ID:13602580
Promoter ID:EPDNEW_H27474
Type:initiation region
Name:CCT8_1
Description:chaperonin containing TCP1 subunit 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
GRCh382129,073,647 - 29,073,707EPDNEW
RGD ID:6799373
Promoter ID:HG_KWN:40529
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   Lymphoblastoid
Transcripts:OTTHUMT00000104070
Position:
Human AssemblyChrPosition (strand)Source
Build 362129,355,131 - 29,356,147 (-)MPROMDB
RGD ID:6799371
Promoter ID:HG_KWN:40530
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000171824,   OTTHUMT00000171829,   OTTHUMT00000171830
Position:
Human AssemblyChrPosition (strand)Source
Build 362129,356,784 - 29,357,284 (-)MPROMDB
RGD ID:6799372
Promoter ID:HG_KWN:40531
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000171826
Position:
Human AssemblyChrPosition (strand)Source
Build 362129,366,006 - 29,367,337 (-)MPROMDB
RGD ID:6799376
Promoter ID:HG_KWN:40532
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:ENST00000389159,   OTTHUMT00000171822,   OTTHUMT00000171823,   OTTHUMT00000171825,   OTTHUMT00000171827,   OTTHUMT00000171828,   UC010GLM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362129,367,649 - 29,368,149 (-)MPROMDB
RGD ID:6851252
Promoter ID:EP73423
Type:initiation region
Name:HS_CCT8
Description:Chaperonin containing TCP1, subunit 8 (theta).
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 362129,367,836 - 29,367,896EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1623 AgrOrtholog
COSMIC CCT8 COSMIC
Ensembl Genes ENSG00000156261 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291533 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286788 ENTREZGENE
  ENST00000286788.9 UniProtKB/Swiss-Prot
  ENST00000431234.1 UniProtKB/TrEMBL
  ENST00000432178.5 UniProtKB/TrEMBL
  ENST00000470450 ENTREZGENE
  ENST00000540844 ENTREZGENE
  ENST00000540844.5 UniProtKB/Swiss-Prot
  ENST00000626972 ENTREZGENE
  ENST00000626972.2 UniProtKB/Swiss-Prot
  ENST00000707881.1 UniProtKB/TrEMBL
  ENST00000707884.1 UniProtKB/Swiss-Prot
  ENST00000707885.1 UniProtKB/Swiss-Prot
  ENST00000707888.1 UniProtKB/TrEMBL
  ENST00000707892.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.560.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.7.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000156261 GTEx
  ENSG00000291533 GTEx
HGNC ID HGNC:1623 ENTREZGENE
Human Proteome Map CCT8 Human Proteome Map
InterPro Chap_CCT_theta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperone_TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chaperonin_TCP-1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cpn60/TCP-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroEL-like_apical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GROEL-like_equatorial_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP-1-like_intermed_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10694 UniProtKB/Swiss-Prot
NCBI Gene 10694 ENTREZGENE
OMIM 617786 OMIM
PANTHER PTHR11353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26186 PharmGKB
PRINTS TCOMPLEXTCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TCP1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCP1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RNAcentral URS0000D6E387 RNACentral
  URS0000D6E60A RNACentral
  URS00027ECC52 RNACentral
  URS00027F75E9 RNACentral
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NN54 ENTREZGENE
  B4DEM7 ENTREZGENE
  B4DQH4 ENTREZGENE
  H7C2U0_HUMAN UniProtKB/TrEMBL
  H7C4C8_HUMAN UniProtKB/TrEMBL
  P50990 ENTREZGENE
  Q4VBP8 ENTREZGENE
  Q53HU0 ENTREZGENE, UniProtKB/TrEMBL
  Q7Z759 ENTREZGENE, UniProtKB/TrEMBL
  TCPQ_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NN54 UniProtKB/Swiss-Prot
  B4DEM7 UniProtKB/Swiss-Prot
  B4DQH4 UniProtKB/Swiss-Prot
  Q4VBP8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 CCT8  chaperonin containing TCP1 subunit 8  C21orf112  chromosome 21 open reading frame 112  Data merged from RGD:1342765 737654 PROVISIONAL
2016-01-12 CCT8  chaperonin containing TCP1 subunit 8    chaperonin containing TCP1, subunit 8 (theta)  Symbol and/or name change 5135510 APPROVED