CCT6A (chaperonin containing TCP1 subunit 6A) - Rat Genome Database

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Gene: CCT6A (chaperonin containing TCP1 subunit 6A) Homo sapiens
Analyze
Symbol: CCT6A
Name: chaperonin containing TCP1 subunit 6A
RGD ID: 1312394
HGNC Page HGNC:1620
Description: Enables WD40-repeat domain binding activity and protein folding chaperone. Involved in chaperone mediated protein folding independent of cofactor and protein stabilization. Located in cytosol and microtubule. Part of chaperonin-containing T-complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acute morphine dependence related protein 2; acute morphine dependence-related protein 2; amino acid transport defect-complementing; CCT-zeta; CCT-zeta-1; CCT6; Cctz; chaperonin containing T-complex polypeptide 1 subunit 6A; chaperonin containing T-complex subunit 6; chaperonin containing TCP1, subunit 6A (zeta 1); histidine transport regulator 3; HTR3; MGC126214; MGC126215; MoDP-2; T-complex protein 1 subunit zeta; T-complex protein 1, zeta subunit; TCP-1-zeta; TCP20; TCPZ; TTCP20
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CCT6P1   CCT6P2   CCT6P3   CCT6P4   CCT6P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38756,051,765 - 56,063,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl756,051,685 - 56,063,989 (+)EnsemblGRCh38hg38GRCh38
GRCh37756,119,458 - 56,131,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36756,086,872 - 56,099,176 (+)NCBINCBI36Build 36hg18NCBI36
Build 34755,893,586 - 55,905,891NCBI
Celera767,172,779 - 67,185,081 (+)NCBICelera
Cytogenetic Map7p11.2NCBI
HuRef755,933,178 - 55,945,465 (+)NCBIHuRef
CHM1_1756,122,415 - 56,134,705 (+)NCBICHM1_1
T2T-CHM13v2.0756,211,599 - 56,223,813 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2756,123,625 - 56,135,929 (+)NCBI
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
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dimethoxyphenol  (EXP)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
acrolein  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aminoglutethimide  (EXP)
amitrole  (ISO)
arsenous acid  (EXP)
benzatropine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP)
C60 fullerene  (ISO)
caffeine  (EXP)
calcium dichloride  (EXP)
cannabidiol  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (EXP,ISO)
cyclosporin A  (EXP)
DDE  (EXP)
deguelin  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
disodium selenite  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
furfural  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lithocholic acid  (EXP)
lovastatin  (ISO)
megestrol acetate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosomorpholine  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dichromate  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
warfarin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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
Additional References at PubMed
PMID:1352881   PMID:1602151   PMID:7953530   PMID:8034610   PMID:10810232   PMID:11532003   PMID:12477932   PMID:12665801   PMID:12853948   PMID:14532270   PMID:15489334   PMID:16085932  
PMID:16196087   PMID:16211299   PMID:16236267   PMID:16497536   PMID:17314511   PMID:17500595   PMID:17550899   PMID:17620599   PMID:17643375   PMID:18715871   PMID:18729074   PMID:18775504  
PMID:18782753   PMID:19056867   PMID:19135240   PMID:19156129   PMID:19299420   PMID:19380743   PMID:19738201   PMID:20193073   PMID:20458337   PMID:20467437   PMID:20473970   PMID:21081666  
PMID:21145461   PMID:21319273   PMID:21525035   PMID:21572988   PMID:21654808   PMID:21873635   PMID:21942715   PMID:22079093   PMID:22133715   PMID:22268729   PMID:22623428   PMID:22658674  
PMID:22810585   PMID:22810586   PMID:22863883   PMID:22939629   PMID:23011926   PMID:23022380   PMID:23166591   PMID:23184937   PMID:23349634   PMID:23376485   PMID:23383273   PMID:23398456  
PMID:23414517   PMID:23438482   PMID:23443559   PMID:23455922   PMID:23508102   PMID:23533145   PMID:23752268   PMID:23858473   PMID:23979707   PMID:24366813   PMID:24550385   PMID:24711643  
PMID:24981860   PMID:25144556   PMID:25147182   PMID:25192599   PMID:25306918   PMID:25315684   PMID:25324306   PMID:25342745   PMID:25437307   PMID:25467444   PMID:25515538   PMID:25756610  
PMID:25852190   PMID:25900982   PMID:25921289   PMID:25940091   PMID:25944111   PMID:25959826   PMID:25963833   PMID:26170170   PMID:26186194   PMID:26217791   PMID:26344197   PMID:26446488  
PMID:26460568   PMID:26472760   PMID:26496610   PMID:26549023   PMID:26638075   PMID:26641092   PMID:26777405   PMID:26811472   PMID:26816005   PMID:26831064   PMID:26912792   PMID:26972000  
PMID:26990986   PMID:27025967   PMID:27114451   PMID:27129302   PMID:27375898   PMID:27377895   PMID:27462432   PMID:27489109   PMID:27503909   PMID:27545878   PMID:27576135   PMID:27591049  
PMID:27634302   PMID:27684187   PMID:27705803   PMID:27926873   PMID:28031328   PMID:28104536   PMID:28192407   PMID:28302793   PMID:28330616   PMID:28375158   PMID:28514442   PMID:28515276  
PMID:28524877   PMID:28561026   PMID:28581483   PMID:28685749   PMID:28718761   PMID:29117863   PMID:29229926   PMID:29298432   PMID:29331416   PMID:29395067   PMID:29449217   PMID:29467282  
PMID:29491746   PMID:29507755   PMID:29509190   PMID:29531219   PMID:29568061   PMID:29669786   PMID:29845934   PMID:29955894   PMID:29969578   PMID:29991511   PMID:30021884   PMID:30154076  
PMID:30209976   PMID:30274258   PMID:30352685   PMID:30442662   PMID:30455355   PMID:30462309   PMID:30463901   PMID:30517763   PMID:30559450   PMID:30575818   PMID:30711629   PMID:30737378  
PMID:30745168   PMID:30809309   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:30955883   PMID:31059266   PMID:31067453   PMID:31091453   PMID:31239290   PMID:31299612  
PMID:31300519   PMID:31353912   PMID:31405213   PMID:31409639   PMID:31501420   PMID:31527615   PMID:31586073   PMID:31665637   PMID:31685992   PMID:31722399   PMID:31732153   PMID:31792442  
PMID:31839598   PMID:31871319   PMID:31980649   PMID:31995728   PMID:32129710   PMID:32296183   PMID:32416067   PMID:32529326   PMID:32552912   PMID:32631353   PMID:32687490   PMID:32694731  
PMID:32698014   PMID:32707033   PMID:32786267   PMID:32807901   PMID:32814053   PMID:32814769   PMID:32877691   PMID:32929329   PMID:32963011   PMID:32994395   PMID:33024031   PMID:33087562  
PMID:33111431   PMID:33137104   PMID:33226137   PMID:33239621   PMID:33306668   PMID:33530265   PMID:33545068   PMID:33567341   PMID:33658012   PMID:33731348   PMID:33742100   PMID:33762435  
PMID:33863777   PMID:33961781   PMID:34004371   PMID:34079125   PMID:34185411   PMID:34189442   PMID:34196992   PMID:34312925   PMID:34316702   PMID:34349018   PMID:34373451   PMID:34428256  
PMID:34434188   PMID:34500119   PMID:34687317   PMID:34728620   PMID:34732716   PMID:34795231   PMID:34901782   PMID:35102251   PMID:35140242   PMID:35235311   PMID:35256949   PMID:35271311  
PMID:35346891   PMID:35366418   PMID:35446349   PMID:35509820   PMID:35530310   PMID:35562734   PMID:35563538   PMID:35575683   PMID:35652658   PMID:35776542   PMID:35777956   PMID:35831314  
PMID:35844135   PMID:35850772   PMID:35906200   PMID:35944360   PMID:35973989   PMID:36057605   PMID:36168627   PMID:36180891   PMID:36215168   PMID:36376293   PMID:36414381   PMID:36424410  
PMID:36517590   PMID:36526897   PMID:36574265   PMID:36584147   PMID:36584595   PMID:36610398   PMID:36652389   PMID:36762613   PMID:36880596   PMID:37017854   PMID:37071682   PMID:37108203  
PMID:37120454   PMID:37223481   PMID:37267103   PMID:37314180   PMID:37317656   PMID:37506885   PMID:37689310   PMID:37788672   PMID:37820061   PMID:37827155   PMID:37929963   PMID:38084868  
PMID:38113892   PMID:38172120   PMID:38177924   PMID:38245532   PMID:38280479   PMID:38334954   PMID:38697112   PMID:38750462   PMID:38997438   PMID:39231216   PMID:39358380   PMID:39422127  


Genomics

Comparative Map Data
CCT6A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38756,051,765 - 56,063,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl756,051,685 - 56,063,989 (+)EnsemblGRCh38hg38GRCh38
GRCh37756,119,458 - 56,131,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36756,086,872 - 56,099,176 (+)NCBINCBI36Build 36hg18NCBI36
Build 34755,893,586 - 55,905,891NCBI
Celera767,172,779 - 67,185,081 (+)NCBICelera
Cytogenetic Map7p11.2NCBI
HuRef755,933,178 - 55,945,465 (+)NCBIHuRef
CHM1_1756,122,415 - 56,134,705 (+)NCBICHM1_1
T2T-CHM13v2.0756,211,599 - 56,223,813 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2756,123,625 - 56,135,929 (+)NCBI
Cct6a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395129,864,420 - 129,875,284 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5129,864,062 - 129,875,212 (+)EnsemblGRCm39 Ensembl
GRCm385129,787,356 - 129,846,443 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5129,786,998 - 129,846,371 (+)EnsemblGRCm38mm10GRCm38
MGSCv375130,293,261 - 130,300,376 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv375130,320,838 - 130,322,231 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365130,102,094 - 130,109,209 (+)NCBIMGSCv36mm8
Celera5126,831,958 - 126,842,310 (+)NCBICelera
Cytogenetic Map5G1.3NCBI
cM Map568.26NCBI
Cct6a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81232,508,842 - 32,519,072 (-)NCBIGRCr8
mRatBN7.21226,872,736 - 26,883,125 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1226,872,574 - 26,883,337 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1228,009,963 - 28,019,744 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01228,620,502 - 28,630,283 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01227,681,988 - 27,691,769 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01230,491,584 - 30,501,813 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1230,491,416 - 30,501,860 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01232,433,505 - 32,443,734 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41227,992,348 - 28,002,578 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11227,855,700 - 27,866,156 (+)NCBI
Celera1228,578,429 - 28,588,659 (-)NCBICelera
Cytogenetic Map12q13NCBI
Cct6a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554568,223,774 - 8,237,966 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554568,223,785 - 8,236,760 (+)NCBIChiLan1.0ChiLan1.0
CCT6A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2660,903,879 - 60,915,550 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17109,228,731 - 109,240,863 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0756,664,757 - 56,677,000 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1757,087,935 - 57,099,519 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl757,087,072 - 57,098,613 (+)Ensemblpanpan1.1panPan2
CCT6A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.16546,278 - 556,996 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl6546,307 - 557,001 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha62,245,558 - 2,256,308 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.06349,896 - 360,647 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl6349,907 - 361,209 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.16293,657 - 304,407 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.06287,738 - 298,489 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.06458,965 - 469,718 (+)NCBIUU_Cfam_GSD_1.0
Cct6a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344126,136,398 - 126,149,056 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365437,887,414 - 7,900,200 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365437,887,511 - 7,900,174 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCT6A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl316,843,804 - 16,858,819 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1316,843,801 - 16,858,819 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2317,180,645 - 17,194,658 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCT6A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1212,715,990 - 2,728,397 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl212,718,975 - 2,728,239 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041179,918,592 - 179,930,935 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cct6a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247408,247,469 - 8,258,978 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247408,247,477 - 8,258,335 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCT6A
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1 copy number loss See cases [RCV000052656] Chr7:52114454..57434735 [GRCh38]
Chr7:52182150..57493216 [GRCh37]
Chr7:52149644..57498383 [NCBI36]
Chr7:7p12.1-11.2
uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3 copy number gain See cases [RCV000053439] Chr7:52192528..57823293 [GRCh38]
Chr7:52260224..57882999 [GRCh37]
Chr7:52227718..57886941 [NCBI36]
Chr7:7p12.1-11.2
uncertain significance
GRCh38/hg38 7p12.1-11.2(chr7:53450330-56107195)x3 copy number gain See cases [RCV000053440] Chr7:53450330..56107195 [GRCh38]
Chr7:53518023..56174888 [GRCh37]
Chr7:53485517..56142382 [NCBI36]
Chr7:7p12.1-11.2
uncertain significance
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21
pathogenic
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3 copy number gain See cases [RCV000053534] Chr7:53274059..68576213 [GRCh38]
Chr7:53341752..68041200 [GRCh37]
Chr7:53309246..67679136 [NCBI36]
Chr7:7p12.1-q11.22
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p11.2(chr7:55805157-56107195)x1 copy number loss See cases [RCV000134962] Chr7:55805157..56107195 [GRCh38]
Chr7:55872850..56174888 [GRCh37]
Chr7:55840344..56142382 [NCBI36]
Chr7:7p11.2
uncertain significance
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2
pathogenic
GRCh38/hg38 7p11.2(chr7:55538414-56107195)x3 copy number gain See cases [RCV000141605] Chr7:55538414..56107195 [GRCh38]
Chr7:55606107..56174888 [GRCh37]
Chr7:55573601..56142382 [NCBI36]
Chr7:7p11.2
uncertain significance
GRCh38/hg38 7p11.2(chr7:55733060-56107195)x1 copy number loss See cases [RCV000142545] Chr7:55733060..56107195 [GRCh38]
Chr7:55800753..56174888 [GRCh37]
Chr7:55768247..56142382 [NCBI36]
Chr7:7p11.2
benign
GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1 copy number loss See cases [RCV000239822] Chr7:55874737..56172217 [GRCh37]
Chr7:7p11.2
uncertain significance
GRCh37/hg19 7p11.2(chr7:55848150-56344705)x3 copy number gain See cases [RCV000598887] Chr7:55848150..56344705 [GRCh37]
Chr7:7p11.2
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p11.2(chr7:55874737-56172165)x3 copy number gain See cases [RCV000447572] Chr7:55874737..56172165 [GRCh37]
Chr7:7p11.2
benign
GRCh37/hg19 7p11.2(chr7:54972516-56172165)x1 copy number loss See cases [RCV000445658] Chr7:54972516..56172165 [GRCh37]
Chr7:7p11.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p11.2(chr7:55550741-56945077)x1 copy number loss See cases [RCV000512175] Chr7:55550741..56945077 [GRCh37]
Chr7:7p11.2
likely benign
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele duplication Autism [RCV000754332] Chr7:52551984..56315037 [GRCh38]
Chr7:7p12.1-11.2
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1 copy number loss not provided [RCV000846150] Chr7:52809787..58025873 [GRCh37]
Chr7:7p12.1-11.1
uncertain significance
NM_001762.4(CCT6A):c.1419A>G (p.Ser473=) single nucleotide variant not provided [RCV001597438] Chr7:56061818 [GRCh38]
Chr7:56129511 [GRCh37]
Chr7:7p11.2
benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p11.2(chr7:55757106-56489653)x3 copy number gain not provided [RCV001834233] Chr7:55757106..56489653 [GRCh37]
Chr7:7p11.2
likely benign
GRCh37/hg19 7p11.2(chr7:55776531-56393852)x3 copy number gain not provided [RCV001834289] Chr7:55776531..56393852 [GRCh37]
Chr7:7p11.2
likely benign
NC_000007.13:g.(?_56079455)_(56174106_?)del deletion Deficiency of phosphoserine phosphatase [RCV001920532] Chr7:56079455..56174106 [GRCh37]
Chr7:7p11.2
uncertain significance
NC_000007.13:g.(?_56079455)_(56174106_?)dup duplication Deficiency of phosphoserine phosphatase [RCV001993474] Chr7:56079455..56174106 [GRCh37]
Chr7:7p11.2
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_001762.4(CCT6A):c.1459A>G (p.Met487Val) single nucleotide variant not specified [RCV004327095] Chr7:56062691 [GRCh38]
Chr7:56130384 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.464C>G (p.Ser155Cys) single nucleotide variant not specified [RCV004314042] Chr7:56055751 [GRCh38]
Chr7:56123444 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.244A>G (p.Thr82Ala) single nucleotide variant not specified [RCV004188363] Chr7:56054411 [GRCh38]
Chr7:56122104 [GRCh37]
Chr7:7p11.2
uncertain significance
GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3 copy number gain not provided [RCV002475815] Chr7:53991820..56148011 [GRCh37]
Chr7:7p12.1-11.2
uncertain significance
NM_001762.4(CCT6A):c.1056G>C (p.Glu352Asp) single nucleotide variant not specified [RCV004243579] Chr7:56059631 [GRCh38]
Chr7:56127324 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.650G>A (p.Arg217Gln) single nucleotide variant not specified [RCV004113951] Chr7:56058028 [GRCh38]
Chr7:56125721 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1403C>G (p.Ala468Gly) single nucleotide variant not specified [RCV004084004] Chr7:56061802 [GRCh38]
Chr7:56129495 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.820A>G (p.Ile274Val) single nucleotide variant not specified [RCV004206888] Chr7:56058456 [GRCh38]
Chr7:56126149 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.332C>T (p.Ser111Phe) single nucleotide variant not specified [RCV004111999] Chr7:56054499 [GRCh38]
Chr7:56122192 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.406G>A (p.Glu136Lys) single nucleotide variant not specified [RCV004107297] Chr7:56055693 [GRCh38]
Chr7:56123386 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.481C>G (p.His161Asp) single nucleotide variant not specified [RCV004071136] Chr7:56055768 [GRCh38]
Chr7:56123461 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.446T>A (p.Ile149Lys) single nucleotide variant not specified [RCV004157475] Chr7:56055733 [GRCh38]
Chr7:56123426 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1354G>T (p.Ala452Ser) single nucleotide variant not specified [RCV004286834] Chr7:56061753 [GRCh38]
Chr7:56129446 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.685T>C (p.Tyr229His) single nucleotide variant not specified [RCV004280976] Chr7:56058063 [GRCh38]
Chr7:56125756 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1456C>A (p.Pro486Thr) single nucleotide variant not specified [RCV004312875] Chr7:56062688 [GRCh38]
Chr7:56130381 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.41C>T (p.Ala14Val) single nucleotide variant not specified [RCV004355898] Chr7:56051889 [GRCh38]
Chr7:56119582 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.819A>C (p.Lys273Asn) single nucleotide variant not specified [RCV004358376] Chr7:56058455 [GRCh38]
Chr7:56126148 [GRCh37]
Chr7:7p11.2
uncertain significance
GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3 copy number gain not provided [RCV003484683] Chr7:55498635..58025873 [GRCh37]
Chr7:7p11.2-11.1
uncertain significance
NM_001762.4(CCT6A):c.1150C>G (p.Leu384Val) single nucleotide variant not specified [RCV004433071] Chr7:56060353 [GRCh38]
Chr7:56128046 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1171G>A (p.Val391Met) single nucleotide variant not specified [RCV004433072] Chr7:56060374 [GRCh38]
Chr7:56128067 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1291G>A (p.Gly431Ser) single nucleotide variant not specified [RCV004433074] Chr7:56060884 [GRCh38]
Chr7:56128577 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.545A>G (p.Gln182Arg) single nucleotide variant not specified [RCV004433077] Chr7:56056345 [GRCh38]
Chr7:56124038 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.811G>T (p.Val271Phe) single nucleotide variant not specified [RCV004433079] Chr7:56058447 [GRCh38]
Chr7:56126140 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1202C>G (p.Ala401Gly) single nucleotide variant not specified [RCV004433073] Chr7:56060405 [GRCh38]
Chr7:56128098 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1460T>C (p.Met487Thr) single nucleotide variant not specified [RCV004433075] Chr7:56062692 [GRCh38]
Chr7:56130385 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.248C>T (p.Ala83Val) single nucleotide variant not specified [RCV004433076] Chr7:56054415 [GRCh38]
Chr7:56122108 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1465G>A (p.Ala489Thr) single nucleotide variant not specified [RCV004898723] Chr7:56062697 [GRCh38]
Chr7:56130390 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1445A>G (p.Asn482Ser) single nucleotide variant not specified [RCV004898721] Chr7:56061844 [GRCh38]
Chr7:56129537 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.257A>C (p.Asp86Ala) single nucleotide variant not specified [RCV004898720] Chr7:56054424 [GRCh38]
Chr7:56122117 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.1058A>G (p.Tyr353Cys) single nucleotide variant not specified [RCV004898719] Chr7:56059633 [GRCh38]
Chr7:56127326 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.695C>G (p.Thr232Ser) single nucleotide variant not specified [RCV004898718] Chr7:56058073 [GRCh38]
Chr7:56125766 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.758C>T (p.Ala253Val) single nucleotide variant not specified [RCV004895152] Chr7:56058394 [GRCh38]
Chr7:56126087 [GRCh37]
Chr7:7p11.2
uncertain significance
NM_001762.4(CCT6A):c.673G>T (p.Val225Leu) single nucleotide variant not specified [RCV004895151] Chr7:56058051 [GRCh38]
Chr7:56125744 [GRCh37]
Chr7:7p11.2
uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR3663hsa-miR-3663-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1202
Count of miRNA genes:534
Interacting mature miRNAs:587
Transcripts:ENST00000275603, ENST00000335503, ENST00000462133, ENST00000466479, ENST00000466572, ENST00000482776, ENST00000492618, ENST00000493855, ENST00000494736, ENST00000540286
Prediction methods:Miranda, Rnahybrid
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
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
596953172GWAS1072691_Hbody height QTL GWAS1072691 (human)2e-21body height75605318856053189Human
597041330GWAS1137404_Hserine measurement, amino acid measurement QTL GWAS1137404 (human)1e-24serine measurement, amino acid measurementblood amino acid measurement (CMO:0003730)75605318856053189Human
596979217GWAS1098736_Hbody height QTL GWAS1098736 (human)3e-17body height75605318856053189Human
597114781GWAS1210855_Hsystolic blood pressure QTL GWAS1210855 (human)8e-09systolic blood pressuresystolic blood pressure (CMO:0000004)75605436556054366Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
597192456GWAS1288530_Hsystolic blood pressure QTL GWAS1288530 (human)5e-08systolic blood pressuresystolic blood pressure (CMO:0000004)75605436556054366Human
597307595GWAS1403669_Hpulse pressure measurement QTL GWAS1403669 (human)2e-09pulse pressure measurementpulse pressure (CMO:0000292)75605318856053189Human
597215467GWAS1311541_Hpulse pressure measurement QTL GWAS1311541 (human)0.0000004pulse pressure measurementpulse pressure (CMO:0000292)75605436556054366Human
597083810GWAS1179884_Hcoronary artery disease QTL GWAS1179884 (human)4e-09coronary artery disease75605436556054366Human
597325709GWAS1421783_Hglycine measurement QTL GWAS1421783 (human)2e-12glycine measurementblood amino acid measurement (CMO:0003730)75606143056061431Human
597268292GWAS1364366_HBMI-adjusted hip circumference QTL GWAS1364366 (human)6e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)75605361156053612Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human

Markers in Region
G62070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37765,228,294 - 65,228,488UniSTSGRCh37
GRCh37756,130,734 - 56,130,928UniSTSGRCh37
Build 36756,098,228 - 56,098,422RGDNCBI36
Celera767,184,133 - 67,184,327RGD
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q11.1UniSTS
HuRef760,913,275 - 60,913,469UniSTS
HuRef755,944,517 - 55,944,711UniSTS
CRA_TCAGchr7v2756,134,981 - 56,135,175UniSTS
CRA_TCAGchr7v2764,565,814 - 64,566,008UniSTS
SHGC-32082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37756,131,533 - 56,131,682UniSTSGRCh37
Build 36756,099,027 - 56,099,176RGDNCBI36
Celera767,184,932 - 67,185,081RGD
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q11.1UniSTS
HuRef755,945,316 - 55,945,465UniSTS
CRA_TCAGchr7v2756,135,780 - 56,135,929UniSTS
Stanford-G3 RH Map76741.0UniSTS
GeneMap99-GB4 RH Map7266.15UniSTS
Whitehead-RH Map7228.0UniSTS
NCBI RH Map7820.9UniSTS
GeneMap99-G3 RH Map77242.0UniSTS
WI-19011  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7p11.2UniSTS
GeneMap99-GB4 RH Map7265.72UniSTS
Whitehead-RH Map7229.5UniSTS
NCBI RH Map7820.9UniSTS
RH11537  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map7p11.2UniSTS


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 2435 2788 2249 4968 1726 2350 6 624 1949 465 2268 7297 6465 52 3730 1 852 1742 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001009186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB063318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF385084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM295155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW411253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC106942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI464886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU540578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L27706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M94083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000275603   ⟹   ENSP00000275603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,051,765 - 56,063,989 (+)Ensembl
Ensembl Acc Id: ENST00000335503   ⟹   ENSP00000352019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,051,685 - 56,063,989 (+)Ensembl
Ensembl Acc Id: ENST00000462133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,060,611 - 56,063,299 (+)Ensembl
Ensembl Acc Id: ENST00000466479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,062,619 - 56,063,620 (+)Ensembl
Ensembl Acc Id: ENST00000466572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,059,865 - 56,060,940 (+)Ensembl
Ensembl Acc Id: ENST00000482776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,056,312 - 56,059,010 (+)Ensembl
Ensembl Acc Id: ENST00000492618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,059,544 - 56,062,059 (+)Ensembl
Ensembl Acc Id: ENST00000493855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,054,476 - 56,055,856 (+)Ensembl
Ensembl Acc Id: ENST00000494736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl756,061,678 - 56,063,178 (+)Ensembl
RefSeq Acc Id: NM_001009186   ⟹   NP_001009186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38756,051,765 - 56,063,989 (+)NCBI
GRCh37756,119,378 - 56,131,682 (+)ENTREZGENE
Build 36756,086,872 - 56,099,176 (+)NCBI Archive
HuRef755,933,178 - 55,945,465 (+)ENTREZGENE
CHM1_1756,122,415 - 56,134,705 (+)NCBI
T2T-CHM13v2.0756,211,599 - 56,223,813 (+)NCBI
CRA_TCAGchr7v2756,123,625 - 56,135,929 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001762   ⟹   NP_001753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38756,051,765 - 56,063,989 (+)NCBI
GRCh37756,119,378 - 56,131,682 (+)ENTREZGENE
Build 36756,086,872 - 56,099,176 (+)NCBI Archive
HuRef755,933,178 - 55,945,465 (+)ENTREZGENE
CHM1_1756,122,415 - 56,134,705 (+)NCBI
T2T-CHM13v2.0756,211,599 - 56,223,813 (+)NCBI
CRA_TCAGchr7v2756,123,625 - 56,135,929 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_001753   ⟸   NM_001762
- Peptide Label: isoform a
- UniProtKB: Q75LP4 (UniProtKB/Swiss-Prot),   Q3KP28 (UniProtKB/Swiss-Prot),   A6NCD2 (UniProtKB/Swiss-Prot),   Q96S46 (UniProtKB/Swiss-Prot),   P40227 (UniProtKB/Swiss-Prot),   B2R9K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001009186   ⟸   NM_001009186
- Peptide Label: isoform b
- UniProtKB: B2R9K8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352019   ⟸   ENST00000335503
Ensembl Acc Id: ENSP00000275603   ⟸   ENST00000275603

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40227-F1-model_v2 AlphaFold P40227 1-531 view protein structure

Promoters
RGD ID:7210643
Promoter ID:EPDNEW_H11067
Type:initiation region
Name:CCT6A_1
Description:chaperonin containing TCP1 subunit 6A
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
GRCh38756,051,765 - 56,051,825EPDNEW
RGD ID:6805373
Promoter ID:HG_KWN:57526
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_001009186,   OTTHUMT00000251526,   OTTHUMT00000251528,   OTTHUMT00000343305,   OTTHUMT00000343306,   OTTHUMT00000343308,   OTTHUMT00000343309,   OTTHUMT00000343312,   OTTHUMT00000343314,   UC003TRI.1,   UC003TRK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36756,085,736 - 56,087,592 (+)MPROMDB
RGD ID:6853496
Promoter ID:EP74574
Type:initiation region
Name:HS_CCT6A_1
Description:Chaperonin containing TCP1, subunit 6A (zeta 1).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP74575  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36756,086,953 - 56,087,013EPD
RGD ID:6853498
Promoter ID:EP74575
Type:initiation region
Name:HS_CCT6A_2
Description:Chaperonin containing TCP1, subunit 6A (zeta 1).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 1; site 2; major promoter.; see alsoEP74574  
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36756,087,014 - 56,087,074EPD
RGD ID:6805371
Promoter ID:HG_KWN:57527
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000343287
Position:
Human AssemblyChrPosition (strand)Source
Build 36756,089,091 - 56,089,591 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1620 AgrOrtholog
COSMIC CCT6A COSMIC
Ensembl Genes ENSG00000146731 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000275603 ENTREZGENE
  ENST00000275603.9 UniProtKB/Swiss-Prot
  ENST00000335503 ENTREZGENE
  ENST00000335503.3 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 ENSG00000146731 GTEx
HGNC ID HGNC:1620 ENTREZGENE
Human Proteome Map CCT6A Human Proteome Map
InterPro Chap_CCT_zeta 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
  TCP-1_chaperonin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:908 UniProtKB/Swiss-Prot
NCBI Gene 908 ENTREZGENE
OMIM 104613 OMIM
PANTHER PTHR11353 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cpn60_TCP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26183 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
Superfamily-SCOP SSF48592 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52029 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54849 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1JUI8_HUMAN UniProtKB/TrEMBL
  A6NCD2 ENTREZGENE
  B2R9K8 ENTREZGENE, UniProtKB/TrEMBL
  P40227 ENTREZGENE
  Q3KP28 ENTREZGENE
  Q75LP4 ENTREZGENE
  Q96S46 ENTREZGENE
  TCPZ_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NCD2 UniProtKB/Swiss-Prot
  Q3KP28 UniProtKB/Swiss-Prot
  Q75LP4 UniProtKB/Swiss-Prot
  Q96S46 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-12 CCT6A  chaperonin containing TCP1 subunit 6A    chaperonin containing TCP1, subunit 6A (zeta 1)  Symbol and/or name change 5135510 APPROVED