CKB (creatine kinase B) - Rat Genome Database

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Gene: CKB (creatine kinase B) Homo sapiens
Analyze
Symbol: CKB
Name: creatine kinase B
RGD ID: 730974
HGNC Page HGNC:1991
Description: Enables creatine kinase activity and ubiquitin protein ligase binding activity. Involved in phosphocreatine biosynthetic process. Located in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B-CK; BCK; brain creatine kinase; CKBB; CPK-B; creatine kinase B chain; creatine kinase B-type; creatine kinase brain; creatine kinase brain-type; creatine kinase, brain; creatine kinase-B; creatine phosphokinase B-type; epididymis luminal protein 211; epididymis secretory protein Li 29; HEL-211; HEL-S-29
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CKBP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814103,519,667 - 103,522,830 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14103,519,667 - 103,522,833 (-)EnsemblGRCh38hg38GRCh38
GRCh3714103,986,004 - 103,989,167 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614103,055,749 - 103,058,923 (-)NCBINCBI36Build 36hg18NCBI36
Build 3414103,055,748 - 103,058,923NCBI
Celera1484,040,224 - 84,043,398 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1484,164,414 - 84,167,557 (-)NCBIHuRef
CHM1_114103,924,170 - 103,927,371 (-)NCBICHM1_1
T2T-CHM13v2.01497,755,711 - 97,758,874 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R)-tramadol  (EXP,ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-bromopropane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP,ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxy-17beta-estradiol  (ISO)
2-hydroxyestrone  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methyladenine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
actinomycin D  (ISO)
afimoxifene  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
ampicillin  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
benidipine  (ISO)
benzatropine  (EXP)
benzo[a]pyrene  (EXP)
bexarotene  (ISO)
biochanin A  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcidiol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carvedilol  (ISO)
celastrol  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
Citreoviridin  (ISO)
clobetasol  (ISO)
cocaine  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (ISO)
Cuprizon  (EXP)
curcumin  (ISO)
cycloheximide  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
D-glucose  (EXP)
daidzein  (EXP)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
disodium selenite  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
estriol  (ISO)
estrogen  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
fenthion  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gallic acid  (ISO)
gemcitabine  (EXP)
genistein  (EXP,ISO)
glucose  (EXP)
glycine betaine  (ISO)
hydrogen peroxide  (EXP)
imetit  (ISO)
indometacin  (EXP)
isoflavones  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lipopolysaccharide  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
loperamide  (ISO)
lutein  (ISO)
lycopene  (ISO)
melatonin  (ISO)
menadione  (EXP)
methamphetamine  (ISO)
methoxychlor  (ISO)
mifepristone  (EXP)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
naphthalene  (ISO)
nickel sulfate  (EXP)
nitroglycerin  (ISO)
ouabain  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
poly(I:C)  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (ISO)
progesterone  (EXP,ISO)
propanal  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
raloxifene  (EXP,ISO)
rotenone  (ISO)
ruthenium atom  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tamoxifen  (ISO)
tapentadol  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetrahydropalmatine  (ISO)
thapsigargin  (EXP)
thiamine(1+) chloride  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
tramadol  (EXP,ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vitamin D  (ISO)
vitamin E  (EXP)
wortmannin  (ISO)
zearalenone  (ISO)

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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Estrogen-induced activation of hypoxia-inducible factor-1alpha, vascular endothelial growth factor expression, and edema in the uterus are mediated by the phosphatidylinositol 3-kinase/Akt pathway. Kazi AA and Koos RD, Endocrinology. 2007 May;148(5):2363-74. doi: 10.1210/en.2006-1394. Epub 2007 Feb 1.
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. Myocardial creatine kinase expression after left ventricular assist device support. Park SJ, etal., J Am Coll Cardiol. 2002 Jun 5;39(11):1773-9.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:466791   PMID:1117316   PMID:1602151   PMID:1840537   PMID:2771648   PMID:2792236   PMID:2828370   PMID:2883200   PMID:2914937   PMID:3034271   PMID:3514665   PMID:3692484  
PMID:3899413   PMID:6846432   PMID:6998544   PMID:7057800   PMID:7808454   PMID:8186255   PMID:8889548   PMID:9365161   PMID:9748661   PMID:10893433   PMID:11487543   PMID:12160938  
PMID:12477932   PMID:15342556   PMID:15489334   PMID:15996648   PMID:16027165   PMID:16189514   PMID:16384981   PMID:16424007   PMID:16981706   PMID:17036164   PMID:17148442   PMID:17683050  
PMID:18029348   PMID:18157088   PMID:18309274   PMID:18552983   PMID:18566107   PMID:18682038   PMID:18793185   PMID:18977227   PMID:19056867   PMID:19060904   PMID:19135240   PMID:19165527  
PMID:19264780   PMID:19337554   PMID:19338310   PMID:19405953   PMID:19615732   PMID:19725078   PMID:20302626   PMID:20391533   PMID:20460152   PMID:20520825   PMID:20588136   PMID:20706999  
PMID:20721618   PMID:20923681   PMID:21044950   PMID:21081666   PMID:21145461   PMID:21308735   PMID:21319273   PMID:21565611   PMID:21873635   PMID:21900206   PMID:21931810   PMID:21980054  
PMID:22079093   PMID:22088263   PMID:22321011   PMID:22418839   PMID:22586326   PMID:22623148   PMID:22658674   PMID:22863883   PMID:22885020   PMID:22926577   PMID:22939629   PMID:23049898  
PMID:23376485   PMID:23533145   PMID:23663784   PMID:23876027   PMID:23882694   PMID:24337577   PMID:24518563   PMID:24711643   PMID:24981860   PMID:25056061   PMID:25141318   PMID:25147182  
PMID:25192599   PMID:25253489   PMID:25416956   PMID:25538032   PMID:25654263   PMID:25810257   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26460485   PMID:26638075   PMID:26871637  
PMID:27318991   PMID:27609421   PMID:28302793   PMID:28330616   PMID:28364583   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28581483   PMID:28675297   PMID:28718761   PMID:28806770  
PMID:29128334   PMID:29227081   PMID:29229926   PMID:29298432   PMID:29715546   PMID:29845934   PMID:29859926   PMID:29872149   PMID:29911972   PMID:30349055   PMID:30415952   PMID:30442762  
PMID:30455355   PMID:30833792   PMID:30884312   PMID:30890647   PMID:30948266   PMID:31046837   PMID:31059266   PMID:31067491   PMID:31091453   PMID:31253590   PMID:31329371   PMID:31353912  
PMID:31405213   PMID:31452512   PMID:31501420   PMID:31620119   PMID:31871319   PMID:31874856   PMID:31980649   PMID:31995728   PMID:32062451   PMID:32129710   PMID:32152539   PMID:32203420  
PMID:32296183   PMID:32347575   PMID:32513959   PMID:32529326   PMID:32552912   PMID:32707033   PMID:32807901   PMID:32814769   PMID:32838362   PMID:32877691   PMID:32929329   PMID:32963011  
PMID:32994395   PMID:33268465   PMID:33306668   PMID:33485312   PMID:33545068   PMID:33597756   PMID:33729478   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34265304   PMID:34349018  
PMID:34428256   PMID:34518685   PMID:34597346   PMID:34706306   PMID:34709727   PMID:34732716   PMID:34901782   PMID:35032548   PMID:35063084   PMID:35140242   PMID:35235311   PMID:35256949  
PMID:35271311   PMID:35337019   PMID:35356984   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35563538   PMID:35676659   PMID:35777956   PMID:35831314   PMID:35944360   PMID:36055981  
PMID:36057605   PMID:36114006   PMID:36168627   PMID:36215168   PMID:36225252   PMID:36244648   PMID:36373674   PMID:36380368   PMID:36517590   PMID:36597993   PMID:36610398   PMID:36634849  
PMID:36652389   PMID:36762613   PMID:37031206   PMID:37059091   PMID:37059927   PMID:37105989   PMID:37108203   PMID:37156912   PMID:37167062   PMID:37207277   PMID:37223481   PMID:37536630  
PMID:37616343   PMID:37827155   PMID:38113892   PMID:38172120   PMID:38697112  


Genomics

Comparative Map Data
CKB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3814103,519,667 - 103,522,830 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl14103,519,667 - 103,522,833 (-)EnsemblGRCh38hg38GRCh38
GRCh3714103,986,004 - 103,989,167 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3614103,055,749 - 103,058,923 (-)NCBINCBI36Build 36hg18NCBI36
Build 3414103,055,748 - 103,058,923NCBI
Celera1484,040,224 - 84,043,398 (-)NCBICelera
Cytogenetic Map14q32.33NCBI
HuRef1484,164,414 - 84,167,557 (-)NCBIHuRef
CHM1_114103,924,170 - 103,927,371 (-)NCBICHM1_1
T2T-CHM13v2.01497,755,711 - 97,758,874 (-)NCBIT2T-CHM13v2.0
Ckb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912111,635,789 - 111,638,772 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12111,635,795 - 111,638,772 (-)EnsemblGRCm39 Ensembl
GRCm3812111,669,355 - 111,672,338 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12111,669,361 - 111,672,338 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712112,907,566 - 112,910,549 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612112,117,169 - 112,120,076 (-)NCBIMGSCv36mm8
Celera12112,866,533 - 112,869,516 (-)NCBICelera
Cytogenetic Map12F1NCBI
cM Map1261.09NCBI
Ckb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86136,550,583 - 136,553,464 (-)NCBIGRCr8
mRatBN7.26130,729,420 - 130,732,301 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6130,729,423 - 130,732,315 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6130,896,519 - 130,899,400 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06131,192,501 - 131,195,382 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06130,559,479 - 130,562,360 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06136,142,956 - 136,145,838 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6136,142,956 - 136,145,837 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06144,270,901 - 144,273,776 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46136,452,215 - 136,455,122 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16136,458,401 - 136,461,309 (-)NCBI
Celera6128,284,759 - 128,287,594 (-)NCBICelera
Cytogenetic Map6q32NCBI
Ckb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555382,379,868 - 2,380,771 (-)NCBIChiLan1.0ChiLan1.0
CKB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v215104,678,952 - 104,682,157 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan114103,895,452 - 103,898,675 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01484,145,931 - 84,149,093 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.114103,957,347 - 103,960,736 (-)NCBIpanpan1.1PanPan1.1panPan2
LOC100855552
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1871,284,104 - 71,287,379 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha870,795,385 - 70,798,712 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0871,559,900 - 71,563,227 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl871,559,903 - 71,563,745 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1871,249,019 - 71,252,346 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0871,288,738 - 71,292,065 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0871,687,984 - 71,691,311 (-)NCBIUU_Cfam_GSD_1.0
Ckb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086402,783,394 - 2,786,864 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366211,612,393 - 1,615,822 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366211,612,398 - 1,615,821 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CKB
(Sus scrofa - pig)
No map positions available.
CKB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12481,462,164 - 81,463,873 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605368,763,838 - 68,767,259 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ckb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247341,346,510 - 1,349,383 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247341,346,056 - 1,349,383 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CKB
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1 copy number loss See cases [RCV000050938] Chr14:100309382..106855263 [GRCh38]
Chr14:100775719..107263478 [GRCh37]
Chr14:99845472..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1 copy number loss See cases [RCV000051578] Chr14:101994084..106855405 [GRCh38]
Chr14:102460421..107263620 [GRCh37]
Chr14:101530174..106334665 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102210395-104449321)x1 copy number loss See cases [RCV000051579] Chr14:102210395..104449321 [GRCh38]
Chr14:102676732..104926965 [GRCh37]
Chr14:101746485..103998010 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102584963-104898605)x1 copy number loss See cases [RCV000051580] Chr14:102584963..104898605 [GRCh38]
Chr14:103051300..105364942 [GRCh37]
Chr14:102121053..104435987 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]|See cases [RCV000051553] Chr14:100590353..106855264 [GRCh38]
Chr14:101056690..107263479 [GRCh37]
Chr14:100126443..106334524 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1 copy number loss See cases [RCV000051113] Chr14:100808300..106855263 [GRCh38]
Chr14:101274637..107263478 [GRCh37]
Chr14:100344390..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1 copy number loss See cases [RCV000133831] Chr14:99831655..106855263 [GRCh38]
Chr14:100297992..107263478 [GRCh37]
Chr14:99367745..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3 copy number gain See cases [RCV000135410] Chr14:100309382..105987610 [GRCh38]
Chr14:100775719..106453697 [GRCh37]
Chr14:99845472..105524742 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103003736-103557569)x1 copy number loss See cases [RCV000136893] Chr14:103003736..103557569 [GRCh38]
Chr14:103470073..104023906 [GRCh37]
Chr14:102539826..103093659 [NCBI36]
Chr14:14q32.32-32.33
uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1 copy number loss See cases [RCV000139633] Chr14:101925670..106876323 [GRCh38]
Chr14:102392007..107284531 [GRCh37]
Chr14:101461760..106355576 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1 copy number loss See cases [RCV000141932] Chr14:102239422..106877229 [GRCh38]
Chr14:102705759..107285437 [GRCh37]
Chr14:101775512..106356482 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1 copy number loss See cases [RCV000142453] Chr14:101665602..106855263 [GRCh38]
Chr14:102131939..107263478 [GRCh37]
Chr14:101201692..106334523 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3 copy number gain See cases [RCV000142593] Chr14:103322414..106855263 [GRCh38]
Chr14:103788751..107263478 [GRCh37]
Chr14:102858504..106334523 [NCBI36]
Chr14:14q32.32-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1 copy number loss See cases [RCV000143154] Chr14:102605096..106879298 [GRCh38]
Chr14:103071433..107287505 [GRCh37]
Chr14:102141186..106358550 [NCBI36]
Chr14:14q32.31-32.33
pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103332197-104435594)x3 copy number gain See cases [RCV000143756] Chr14:103332197..104435594 [GRCh38]
Chr14:103798534..104901931 [GRCh37]
Chr14:102868287..103972976 [NCBI36]
Chr14:14q32.32-32.33
uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1 copy number loss See cases [RCV000143662] Chr14:100582059..106877229 [GRCh38]
Chr14:101048396..107285437 [GRCh37]
Chr14:100118149..106356482 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934) copy number gain not provided [RCV000767752] Chr14:100575917..107281934 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1 copy number loss See cases [RCV000446081] Chr14:103711336..107285437 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103566945-104053697)x1 copy number loss See cases [RCV000446810] Chr14:103566945..104053697 [GRCh37]
Chr14:14q32.32-32.33
pathogenic|uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103390060-104436909)x1 copy number loss See cases [RCV000448868] Chr14:103390060..104436909 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss See cases [RCV000510629] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1 copy number loss See cases [RCV000511801] Chr14:103965059..107285437 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1 copy number loss See cases [RCV000511171] Chr14:100661319..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1 copy number loss See cases [RCV000511173] Chr14:102670706..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3 copy number gain not provided [RCV000683623] Chr14:102191861..106019451 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.32(chr14:103987140-103993060)x1 copy number loss not provided [RCV000738606] Chr14:103987140..103993060 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103987140-103999371)x0 copy number loss not provided [RCV000738607] Chr14:103987140..103999371 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103987305-103993060)x1 copy number loss not provided [RCV000738608] Chr14:103987305..103993060 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103988059-103993060)x1 copy number loss not provided [RCV000738609] Chr14:103988059..103993060 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103988059-103999371)x3 copy number gain not provided [RCV000738610] Chr14:103988059..103999371 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103988098-103993060)x1 copy number loss not provided [RCV000751126] Chr14:103988098..103993060 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.32(chr14:103988098-103994961)x3 copy number gain not provided [RCV000751127] Chr14:103988098..103994961 [GRCh37]
Chr14:14q32.32
benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1 copy number loss not provided [RCV000848417] Chr14:101627916..107147698 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1 copy number loss not provided [RCV000847188] Chr14:102931119..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_001823.5(CKB):c.565G>C (p.Asp189His) single nucleotide variant Premature ovarian insufficiency [RCV000766146] Chr14:103521351 [GRCh38]
Chr14:103987688 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579) copy number loss not provided [RCV000767716] Chr14:103804791..105677579 [GRCh37]
Chr14:14q32.32-32.33
likely pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1 copy number loss not provided [RCV001006656] Chr14:103153637..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
NC_000014.8:g.(?_102228231)_(105861009_?)dup duplication Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]|Herpes simplex encephalitis, susceptibility to, 3 [RCV004579596] Chr14:102228231..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1 copy number loss not provided [RCV001259801] Chr14:102615953..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NC_000014.8:g.(?_102442029)_(105861009_?)del deletion Charcot-Marie-Tooth disease axonal type 2O [RCV003107388] Chr14:102442029..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NC_000014.8:g.(?_103336539)_(105861009_?)dup duplication not provided [RCV002239722] Chr14:103336539..105861009 [GRCh37]
Chr14:14q32.32-32.33
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1 copy number loss not provided [RCV001829204] Chr14:101593860..106160500 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437) copy number loss not specified [RCV002052456] Chr14:101732158..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del deletion not provided [RCV002000609] Chr14:103148212..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup duplication not provided [RCV003120748] Chr14:102229222..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NC_000014.9:g.102573453_103575949del deletion Mitochondrial complex 4 deficiency, nuclear type 17 [RCV003123350] Chr14:102573453..103575949 [GRCh38]
Chr14:14q32.31-32.33
pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33
pathogenic
NM_001823.5(CKB):c.371A>G (p.Asn124Ser) single nucleotide variant not specified [RCV004222856] Chr14:103521928 [GRCh38]
Chr14:103988265 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.754C>T (p.Arg252Cys) single nucleotide variant not specified [RCV004233767] Chr14:103520492 [GRCh38]
Chr14:103986829 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.847T>G (p.Cys283Gly) single nucleotide variant not specified [RCV004164659] Chr14:103520242 [GRCh38]
Chr14:103986579 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.568G>A (p.Asp190Asn) single nucleotide variant not specified [RCV004234721] Chr14:103521348 [GRCh38]
Chr14:103987685 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.86A>T (p.His29Leu) single nucleotide variant not specified [RCV004146055] Chr14:103522408 [GRCh38]
Chr14:103988745 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.43C>G (p.Pro15Ala) single nucleotide variant not specified [RCV004185332] Chr14:103522451 [GRCh38]
Chr14:103988788 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.806A>G (p.Tyr269Cys) single nucleotide variant not specified [RCV004230103] Chr14:103520283 [GRCh38]
Chr14:103986620 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.5C>T (p.Pro2Leu) single nucleotide variant not specified [RCV004074179] Chr14:103522489 [GRCh38]
Chr14:103988826 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1 copy number loss not provided [RCV003323337] Chr14:103636647..107285437 [GRCh37]
Chr14:14q32.32-32.33
pathogenic
NM_001823.5(CKB):c.355G>A (p.Asp119Asn) single nucleotide variant not specified [RCV004290884] Chr14:103521944 [GRCh38]
Chr14:103988281 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1 copy number loss Neurodevelopmental disorder [RCV003327606] Chr14:102263440..106874929 [GRCh38]
Chr14:14q32.31-32.33
pathogenic
NM_001823.5(CKB):c.680T>C (p.Val227Ala) single nucleotide variant not specified [RCV004335678] Chr14:103520566 [GRCh38]
Chr14:103986903 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1 copy number loss not provided [RCV003483217] Chr14:101024609..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1 copy number loss not specified [RCV003987056] Chr14:102098959..107285437 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NM_001823.5(CKB):c.598C>T (p.Pro200Ser) single nucleotide variant not specified [RCV004444088] Chr14:103521318 [GRCh38]
Chr14:103987655 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.769C>G (p.Leu257Val) single nucleotide variant not specified [RCV004444090] Chr14:103520477 [GRCh38]
Chr14:103986814 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.759C>G (p.Phe253Leu) single nucleotide variant not specified [RCV004444089] Chr14:103520487 [GRCh38]
Chr14:103986824 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.338A>G (p.Asp113Gly) single nucleotide variant not specified [RCV004444087] Chr14:103522033 [GRCh38]
Chr14:103988370 [GRCh37]
Chr14:14q32.33
uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1 copy number loss not provided [RCV004577487] Chr14:101522804..107289470 [GRCh37]
Chr14:14q32.31-32.33
pathogenic
NC_000014.8:g.(?_102873655)_(105861009_?)del deletion Herpes simplex encephalitis, susceptibility to, 3 [RCV004578149] Chr14:102873655..105861009 [GRCh37]
Chr14:14q32.31-32.33
uncertain significance
NM_001823.5(CKB):c.1082T>C (p.Ile361Thr) single nucleotide variant not specified [RCV004612776] Chr14:103519928 [GRCh38]
Chr14:103986265 [GRCh37]
Chr14:14q32.33
uncertain significance
NM_001823.5(CKB):c.726G>T (p.Lys242Asn) single nucleotide variant not specified [RCV004612777] Chr14:103520520 [GRCh38]
Chr14:103986857 [GRCh37]
Chr14:14q32.33
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6784
Count of miRNA genes:968
Interacting mature miRNAs:1213
Transcripts:ENST00000348956, ENST00000553528, ENST00000553610, ENST00000553652, ENST00000553878, ENST00000553994, ENST00000554282, ENST00000554426, ENST00000554705, ENST00000554989, ENST00000555039, ENST00000555366, ENST00000555659, ENST00000555770, ENST00000557287, ENST00000557530, ENST00000557569
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
407030160GWAS679136_Hbody mass index QTL GWAS679136 (human)1e-16body mass indexbody mass index (BMI) (CMO:0000105)14103521843103521844Human
407415291GWAS1064267_Hpulse pressure measurement QTL GWAS1064267 (human)1e-10pulse pressure measurementpulse pressure (CMO:0000292)14103520968103520969Human
407347089GWAS996065_Hattention deficit hyperactivity disorder, autism spectrum disorder, intelligence QTL GWAS996065 (human)1e-15attention deficit hyperactivity disorder, autism spectrum disorder, intelligence14103520803103520804Human
406917110GWAS566086_Hbasal cell carcinoma QTL GWAS566086 (human)5e-11basal cell carcinoma14103521843103521844Human
407365088GWAS1014064_Hsystolic blood pressure QTL GWAS1014064 (human)0.00001systolic blood pressuresystolic blood pressure (CMO:0000004)14103520968103520969Human
407051353GWAS700329_Hneuroticism measurement, cognitive function measurement QTL GWAS700329 (human)1e-18neuroticism measurement, cognitive function measurement14103520741103520742Human
406995054GWAS644030_Hintelligence QTL GWAS644030 (human)2e-10intelligence14103520803103520804Human
407056175GWAS705151_Hintelligence QTL GWAS705151 (human)2e-14intelligence14103520803103520804Human
407096879GWAS745855_Hbody mass index QTL GWAS745855 (human)9e-19body mass indexbody mass index (BMI) (CMO:0000105)14103521843103521844Human
406932092GWAS581068_Hbody mass index QTL GWAS581068 (human)1e-15body mass indexbody mass index (BMI) (CMO:0000105)14103521843103521844Human

Markers in Region
Egfr-rs  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,986,605 - 103,986,930UniSTSGRCh37
Build 3614103,056,358 - 103,056,683RGDNCBI36
Celera1484,040,833 - 84,041,158RGD
HuRef1484,165,024 - 84,165,349UniSTS
UniSTS:479983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,986,819 - 103,986,902UniSTSGRCh37
Build 3614103,056,572 - 103,056,655RGDNCBI36
Celera1484,041,047 - 84,041,130RGD
HuRef1484,165,238 - 84,165,321UniSTS
WI-8982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,985,980 - 103,986,087UniSTSGRCh37
Build 3614103,055,733 - 103,055,840RGDNCBI36
Celera1484,040,208 - 84,040,315RGD
Cytogenetic Map14q32UniSTS
HuRef1484,164,399 - 84,164,506UniSTS
RH17667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714103,986,066 - 103,986,229UniSTSGRCh37
Build 3614103,055,819 - 103,055,982RGDNCBI36
Celera1484,040,294 - 84,040,457RGD
Cytogenetic Map14q32UniSTS
HuRef1484,164,485 - 84,164,648UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS
NCBI RH Map141117.3UniSTS
RH77930  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32UniSTS
GeneMap99-GB4 RH Map14277.83UniSTS


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 2251 4972 1726 2351 5 624 1947 465 2269 7299 6466 53 3734 1 851 1743 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001362531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH002653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG720434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM684665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP213119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ333313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L47647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000348956   ⟹   ENSP00000299198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,667 - 103,522,830 (-)Ensembl
Ensembl Acc Id: ENST00000553528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,695 - 103,521,770 (-)Ensembl
Ensembl Acc Id: ENST00000553610   ⟹   ENSP00000451426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,862 - 103,521,342 (-)Ensembl
Ensembl Acc Id: ENST00000553652   ⟹   ENSP00000450676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,702 - 103,522,821 (-)Ensembl
Ensembl Acc Id: ENST00000553878   ⟹   ENSP00000451904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,263 - 103,522,696 (-)Ensembl
Ensembl Acc Id: ENST00000553994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,828 - 103,522,696 (-)Ensembl
Ensembl Acc Id: ENST00000554282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,679 - 103,521,443 (-)Ensembl
Ensembl Acc Id: ENST00000554426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,262 - 103,522,802 (-)Ensembl
Ensembl Acc Id: ENST00000554705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,648 - 103,522,833 (-)Ensembl
Ensembl Acc Id: ENST00000554989   ⟹   ENSP00000451680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,668 - 103,521,322 (-)Ensembl
Ensembl Acc Id: ENST00000555039   ⟹   ENSP00000451686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,992 - 103,521,101 (-)Ensembl
Ensembl Acc Id: ENST00000555366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,520,153 - 103,520,728 (-)Ensembl
Ensembl Acc Id: ENST00000555659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,621 - 103,522,830 (-)Ensembl
Ensembl Acc Id: ENST00000555770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,683 - 103,522,830 (-)Ensembl
Ensembl Acc Id: ENST00000557287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,283 - 103,522,302 (-)Ensembl
Ensembl Acc Id: ENST00000557530   ⟹   ENSP00000451611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,827 - 103,522,833 (-)Ensembl
Ensembl Acc Id: ENST00000557569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,521,237 - 103,522,198 (-)Ensembl
Ensembl Acc Id: ENST00000689346   ⟹   ENSP00000508488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl14103,519,667 - 103,522,830 (-)Ensembl
RefSeq Acc Id: NM_001362531   ⟹   NP_001349460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,519,667 - 103,522,830 (-)NCBI
T2T-CHM13v2.01497,755,711 - 97,758,874 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001823   ⟹   NP_001814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,519,667 - 103,522,830 (-)NCBI
GRCh3714103,985,995 - 103,989,196 (-)NCBI
Build 3614103,055,749 - 103,058,923 (-)NCBI Archive
HuRef1484,164,414 - 84,167,557 (-)NCBI
CHM1_114103,924,170 - 103,927,371 (-)NCBI
T2T-CHM13v2.01497,755,711 - 97,758,874 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001349460 (Get FASTA)   NCBI Sequence Viewer  
  NP_001814 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52024 (Get FASTA)   NCBI Sequence Viewer  
  AAA76850 (Get FASTA)   NCBI Sequence Viewer  
  AAA76851 (Get FASTA)   NCBI Sequence Viewer  
  AAA76852 (Get FASTA)   NCBI Sequence Viewer  
  AAC31758 (Get FASTA)   NCBI Sequence Viewer  
  AAH01190 (Get FASTA)   NCBI Sequence Viewer  
  AAH04914 (Get FASTA)   NCBI Sequence Viewer  
  AAH08323 (Get FASTA)   NCBI Sequence Viewer  
  AAH10002 (Get FASTA)   NCBI Sequence Viewer  
  AAH19259 (Get FASTA)   NCBI Sequence Viewer  
  AAH19281 (Get FASTA)   NCBI Sequence Viewer  
  ABC67465 (Get FASTA)   NCBI Sequence Viewer  
  ACI46029 (Get FASTA)   NCBI Sequence Viewer  
  ACJ13683 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33435 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33436 (Get FASTA)   NCBI Sequence Viewer  
  BAF82790 (Get FASTA)   NCBI Sequence Viewer  
  BAG35211 (Get FASTA)   NCBI Sequence Viewer  
  BAG60468 (Get FASTA)   NCBI Sequence Viewer  
  CAA33389 (Get FASTA)   NCBI Sequence Viewer  
  CAG47064 (Get FASTA)   NCBI Sequence Viewer  
  EAW81820 (Get FASTA)   NCBI Sequence Viewer  
  EAW81821 (Get FASTA)   NCBI Sequence Viewer  
  EAW81822 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299198
  ENSP00000299198.2
  ENSP00000450676.1
  ENSP00000451426.1
  ENSP00000451611.1
  ENSP00000451680.1
  ENSP00000451686.1
  ENSP00000451904.1
  ENSP00000508488
  ENSP00000508488.1
GenBank Protein P12277 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001814   ⟸   NM_001823
- Peptide Label: isoform 1
- UniProtKB: Q6FG40 (UniProtKB/Swiss-Prot),   Q2LE07 (UniProtKB/Swiss-Prot),   B2R5R4 (UniProtKB/Swiss-Prot),   A8K236 (UniProtKB/Swiss-Prot),   Q9UC66 (UniProtKB/Swiss-Prot),   P12277 (UniProtKB/Swiss-Prot),   V9HWH2 (UniProtKB/TrEMBL),   V9HW77 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349460   ⟸   NM_001362531
- Peptide Label: isoform 2
- UniProtKB: A0A0S2Z471 (UniProtKB/TrEMBL),   V9HW77 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000451686   ⟸   ENST00000555039
Ensembl Acc Id: ENSP00000451611   ⟸   ENST00000557530
Ensembl Acc Id: ENSP00000299198   ⟸   ENST00000348956
Ensembl Acc Id: ENSP00000451904   ⟸   ENST00000553878
Ensembl Acc Id: ENSP00000450676   ⟸   ENST00000553652
Ensembl Acc Id: ENSP00000451426   ⟸   ENST00000553610
Ensembl Acc Id: ENSP00000451680   ⟸   ENST00000554989
Ensembl Acc Id: ENSP00000508488   ⟸   ENST00000689346
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P12277-F1-model_v2 AlphaFold P12277 1-381 view protein structure

Promoters
RGD ID:6810579
Promoter ID:HG_ACW:24687
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:CKB.JAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 3614103,056,136 - 103,057,147 (-)MPROMDB
RGD ID:6791378
Promoter ID:HG_KWN:20323
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001YNE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614103,057,301 - 103,058,387 (-)MPROMDB
RGD ID:6791377
Promoter ID:HG_KWN:20324
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001823,   UC010AWR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3614103,058,601 - 103,059,101 (-)MPROMDB
RGD ID:6849952
Promoter ID:EP30047
Type:multiple initiation site
Name:HS_CKB
Description:Creatine kinase B.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Notes:homology_group=Homology group 177; Mammalian kreatine kinase B.
Tissues & Cell Lines:brain, macrophages
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension; NEDO full length human cDNA sequencing project.; Oligo-capping; Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 3614103,058,920 - 103,058,980EPD
RGD ID:7228709
Promoter ID:EPDNEW_H20100
Type:initiation region
Name:CKB_1
Description:creatine kinase B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20101  EPDNEW_H20104  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,522,830 - 103,522,890EPDNEW
RGD ID:7228711
Promoter ID:EPDNEW_H20101
Type:initiation region
Name:CKB_3
Description:creatine kinase B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20100  EPDNEW_H20104  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3814103,529,072 - 103,529,132EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1991 AgrOrtholog
COSMIC CKB COSMIC
Ensembl Genes ENSG00000166165 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000348956 ENTREZGENE
  ENST00000348956.7 UniProtKB/Swiss-Prot
  ENST00000553610.5 UniProtKB/TrEMBL
  ENST00000553652.5 UniProtKB/TrEMBL
  ENST00000553878.5 UniProtKB/TrEMBL
  ENST00000554989.1 UniProtKB/TrEMBL
  ENST00000555039.1 UniProtKB/TrEMBL
  ENST00000557530.1 UniProtKB/TrEMBL
  ENST00000689346 ENTREZGENE
  ENST00000689346.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.135.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutamine synthetase/guanido kinase, catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166165 GTEx
HGNC ID HGNC:1991 ENTREZGENE
Human Proteome Map CKB Human Proteome Map
InterPro ATP-guanido_PTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-guanido_PTrfase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-guanido_PTrfase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-guanido_PTrfase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-guanido_PTrfase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gln_synth/guanido_kin_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1152 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1152 ENTREZGENE
OMIM 123280 OMIM
PANTHER CREATINE KINASE B-TYPE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11547 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ATP-gua_Ptrans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-gua_PtransN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26528 PharmGKB
PROSITE PHOSPHAGEN_KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHAGEN_KINASE_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHOSPHAGEN_KINASE_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48034 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55931 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z471 ENTREZGENE, UniProtKB/TrEMBL
  A8K236 ENTREZGENE
  B2R5R4 ENTREZGENE
  G3V2I1_HUMAN UniProtKB/TrEMBL
  G3V461_HUMAN UniProtKB/TrEMBL
  G3V4N7_HUMAN UniProtKB/TrEMBL
  H0YJG0_HUMAN UniProtKB/TrEMBL
  H0YJJ7_HUMAN UniProtKB/TrEMBL
  H0YJK0_HUMAN UniProtKB/TrEMBL
  KCRB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2LE07 ENTREZGENE
  Q6FG40 ENTREZGENE
  Q9UC66 ENTREZGENE
  V9HW77 ENTREZGENE, UniProtKB/TrEMBL
  V9HWH2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K236 UniProtKB/Swiss-Prot
  B2R5R4 UniProtKB/Swiss-Prot
  Q2LE07 UniProtKB/Swiss-Prot
  Q6FG40 UniProtKB/Swiss-Prot
  Q9UC66 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 CKB  creatine kinase B  CKB  creatine kinase, brain  Symbol and/or name change 5135510 APPROVED