CDK9 (cyclin dependent kinase 9) - Rat Genome Database

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Gene: CDK9 (cyclin dependent kinase 9) Homo sapiens
Analyze
Symbol: CDK9
Name: cyclin dependent kinase 9
RGD ID: 1346548
HGNC Page HGNC:1780
Description: Enables nucleic acid binding activity; protein serine/threonine kinase activity; and transcription coactivator binding activity. Involved in several processes, including nucleic acid metabolic process; regulation of nucleobase-containing compound metabolic process; and regulation of protein localization to chromatin. Located in PML body and cytoplasmic ribonucleoprotein granule. Part of P-TEFb complex. Is active in nucleus. Biomarker of congestive heart failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C-2k; CDC2-related kinase; CDC2L4; cell division cycle 2-like protein kinase 4; cell division protein kinase 9; CTK1; cyclin-dependent kinase 9; PITALRE; serine/threonine protein kinase PITALRE; serine/threonine-protein kinase PITALRE; TAK; tat-associated kinase complex catalytic subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,786,034 - 127,790,792 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,785,679 - 127,790,792 (+)EnsemblGRCh38hg38GRCh38
GRCh379130,548,313 - 130,553,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,588,152 - 129,592,184 (+)NCBINCBI36Build 36hg18NCBI36
Build 349127,627,890 - 127,631,917NCBI
Celera9101,199,168 - 101,203,915 (+)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,164,574 - 100,169,598 (+)NCBIHuRef
CHM1_19130,699,854 - 130,704,602 (+)NCBICHM1_1
T2T-CHM13v2.09139,993,485 - 139,998,243 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alvocidib  (EXP)
Aroclor 1254  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
berberine  (ISO)
bisphenol A  (ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (EXP)
Cinobufagin  (EXP)
clofibrate  (ISO)
curcumin  (EXP)
cyclosporin A  (ISO)
cypermethrin  (ISO)
D-glucose  (ISO)
decabromodiphenyl ether  (EXP)
deferasirox  (EXP)
dexamethasone  (EXP)
diazinon  (ISO)
dimethylarsinic acid  (ISO)
disodium selenite  (EXP)
divanadium pentaoxide  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
fenofibrate  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
glucose  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (ISO)
lycopene  (EXP)
methamphetamine  (ISO)
nickel dichloride  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
PhIP  (EXP)
progesterone  (EXP)
quercetin  (EXP)
rucaparib  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
sorafenib  (EXP)
streptozocin  (ISO)
sunitinib  (EXP)
thioacetamide  (ISO)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
wogonin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Updating the RNA polymerase CTD code: adding gene-specific layers. Egloff S, etal., Trends Genet. 2012 Jul;28(7):333-41. doi: 10.1016/j.tig.2012.03.007. Epub 2012 May 21.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. The writers, readers, and functions of the RNA polymerase II C-terminal domain code. Jeronimo C, etal., Chem Rev. 2013 Nov 13;113(11):8491-522. doi: 10.1021/cr4001397. Epub 2013 Jul 10.
4. Control of transcriptional elongation. Kwak H and Lis JT, Annu Rev Genet. 2013;47:483-508. doi: 10.1146/annurev-genet-110711-155440. Epub 2013 Sep 11.
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure. Sano M, etal., EMBO J 2004 Sep 1;23(17):3559-69. Epub 2004 Aug 5.
7. Protective effect of berberine on antioxidant enzymes and positive transcription elongation factor b expression in diabetic rat liver. Zhou JY and Zhou SW, Fitoterapia. 2011 Mar;82(2):184-9. doi: 10.1016/j.fitote.2010.08.019. Epub 2010 Sep 7.
Additional References at PubMed
PMID:7695608   PMID:7853496   PMID:8170997   PMID:8416977   PMID:8676484   PMID:8849451   PMID:8870681   PMID:9184228   PMID:9258347   PMID:9334325   PMID:9334326   PMID:9356449  
PMID:9491887   PMID:9499409   PMID:9557739   PMID:9570510   PMID:9649438   PMID:9651670   PMID:9696809   PMID:9765201   PMID:9811724   PMID:9827693   PMID:9832504   PMID:9843510  
PMID:9857195   PMID:9872325   PMID:9990016   PMID:10049833   PMID:10064603   PMID:10066804   PMID:10077579   PMID:10082552   PMID:10329125   PMID:10329126   PMID:10364292   PMID:10364329  
PMID:10377393   PMID:10384302   PMID:10393184   PMID:10393900   PMID:10438593   PMID:10454543   PMID:10465067   PMID:10467404   PMID:10536359   PMID:10545121   PMID:10574912   PMID:10617616  
PMID:10656684   PMID:10661406   PMID:10671520   PMID:10757782   PMID:10866664   PMID:10903437   PMID:10912001   PMID:10913173   PMID:10931842   PMID:10944537   PMID:10958691   PMID:10964778  
PMID:10983978   PMID:11080476   PMID:11112772   PMID:11118314   PMID:11145967   PMID:11152495   PMID:11266437   PMID:11278802   PMID:11282025   PMID:11420046   PMID:11455589   PMID:11504720  
PMID:11545735   PMID:11547919   PMID:11549886   PMID:11572868   PMID:11575923   PMID:11673469   PMID:11689614   PMID:11689688   PMID:11704662   PMID:11713532   PMID:11713533   PMID:11730934  
PMID:11739686   PMID:11780068   PMID:11809800   PMID:11884399   PMID:12036313   PMID:12037670   PMID:12037672   PMID:12052871   PMID:12065898   PMID:12115727   PMID:12173051   PMID:12368300  
PMID:12368330   PMID:12386808   PMID:12477932   PMID:12486002   PMID:12588988   PMID:12591939   PMID:12651893   PMID:12676794   PMID:12718890   PMID:12721286   PMID:12727882   PMID:12753906  
PMID:12832472   PMID:12861003   PMID:12887902   PMID:12894230   PMID:12942536   PMID:12944466   PMID:12944920   PMID:14569024   PMID:14580347   PMID:14585207   PMID:14627702   PMID:14701750  
PMID:14963154   PMID:14984439   PMID:15009212   PMID:15049426   PMID:15107825   PMID:15139295   PMID:15164053   PMID:15169877   PMID:15183343   PMID:15201869   PMID:15286705   PMID:15328539  
PMID:15452830   PMID:15473004   PMID:15489334   PMID:15498776   PMID:15514168   PMID:15528190   PMID:15546612   PMID:15563843   PMID:15564463   PMID:15635413   PMID:15638724   PMID:15713661  
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PMID:16980611   PMID:17148452   PMID:17192257   PMID:17234882   PMID:17251582   PMID:17352406   PMID:17376917   PMID:17452463   PMID:17502349   PMID:17537237   PMID:17576689   PMID:17643375  
PMID:17661632   PMID:17690245   PMID:17700062   PMID:17907378   PMID:17942552   PMID:17956865   PMID:17998334   PMID:18029348   PMID:18039861   PMID:18200011   PMID:18205180   PMID:18218627  
PMID:18250157   PMID:18281698   PMID:18391197   PMID:18483222   PMID:18483487   PMID:18566585   PMID:18655042   PMID:18753202   PMID:18773076   PMID:18780834   PMID:18829461   PMID:18931076  
PMID:18971272   PMID:18976462   PMID:18991615   PMID:19179338   PMID:19211771   PMID:19275730   PMID:19322201   PMID:19387490   PMID:19426592   PMID:19526283   PMID:19575011   PMID:19603446  
PMID:19617712   PMID:19716452   PMID:19732026   PMID:19741158   PMID:19766566   PMID:19780058   PMID:19812265   PMID:19818711   PMID:19844166   PMID:19914168   PMID:19946888   PMID:19956800  
PMID:20012528   PMID:20018238   PMID:20054825   PMID:20081228   PMID:20106982   PMID:20133760   PMID:20153263   PMID:20190802   PMID:20201073   PMID:20227660   PMID:20231357   PMID:20305087  
PMID:20370601   PMID:20385237   PMID:20385240   PMID:20431927   PMID:20467437   PMID:20471948   PMID:20471949   PMID:20493174   PMID:20535204   PMID:20551309   PMID:20562857   PMID:20571604  
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PMID:23754689   PMID:23803414   PMID:23827503   PMID:23940030   PMID:23977272   PMID:24102143   PMID:24150998   PMID:24158816   PMID:24189400   PMID:24204263   PMID:24217245   PMID:24309997  
PMID:24316072   PMID:24359561   PMID:24360279   PMID:24367103   PMID:24515107   PMID:24559102   PMID:24565118   PMID:24688048   PMID:24727379   PMID:24742347   PMID:24793763   PMID:24837678  
PMID:24860166   PMID:24957606   PMID:24980433   PMID:24981860   PMID:25036637   PMID:25132562   PMID:25281924   PMID:25417107   PMID:25470060   PMID:25496916   PMID:25596730   PMID:25731772  
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PMID:26496610   PMID:26555090   PMID:26573875   PMID:26636538   PMID:26659056   PMID:26687678   PMID:26725010   PMID:26766294   PMID:26853452   PMID:26972000   PMID:27193293   PMID:27320910  
PMID:27322055   PMID:27378523   PMID:27453043   PMID:27486754   PMID:27684187   PMID:27783955   PMID:27799305   PMID:28182006   PMID:28186131   PMID:28278048   PMID:28319113   PMID:28330616  
PMID:28345603   PMID:28363942   PMID:28404924   PMID:28426094   PMID:28431135   PMID:28434229   PMID:28453857   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28539972   PMID:28655758  
PMID:28673542   PMID:28701053   PMID:28722178   PMID:28940993   PMID:28994650   PMID:29053956   PMID:29128334   PMID:29170386   PMID:29229926   PMID:29335245   PMID:29507755   PMID:29509190  
PMID:29588524   PMID:29712686   PMID:29743242   PMID:29802200   PMID:29845934   PMID:29849146   PMID:29884807   PMID:29955894   PMID:30021884   PMID:30076726   PMID:30134174   PMID:30179224  
PMID:30196744   PMID:30227759   PMID:30362418   PMID:30394665   PMID:30415952   PMID:30488489   PMID:30536701   PMID:30554943   PMID:30579871   PMID:30602496   PMID:30649429   PMID:30652970  
PMID:30726104   PMID:30824372   PMID:30862715   PMID:30890647   PMID:31048545   PMID:31059266   PMID:31151054   PMID:31239290   PMID:31294695   PMID:31346846   PMID:31385803   PMID:31470122  
PMID:31570834   PMID:31586073   PMID:31594641   PMID:31603123   PMID:31753913   PMID:31953354   PMID:31980649   PMID:32124532   PMID:32129710   PMID:32152128   PMID:32203420   PMID:32296028  
PMID:32296183   PMID:32402252   PMID:32416067   PMID:32479599   PMID:32556803   PMID:32669118   PMID:32694731   PMID:32707033   PMID:32747552   PMID:32780723   PMID:32901849   PMID:32931925  
PMID:32934219   PMID:32994395   PMID:33016930   PMID:33129955   PMID:33187986   PMID:33226137   PMID:33462405   PMID:33483464   PMID:33596420   PMID:33640901   PMID:33742100   PMID:33961781  
PMID:34004147   PMID:34079125   PMID:34102609   PMID:34159380   PMID:34161765   PMID:34265249   PMID:34372855   PMID:34373451   PMID:34592899   PMID:34857952   PMID:34898277   PMID:35031618  
PMID:35119000   PMID:35256949   PMID:35271311   PMID:35439318   PMID:35524561   PMID:35604033   PMID:35660024   PMID:35748872   PMID:35831314   PMID:35850772   PMID:35896951   PMID:35906200  
PMID:35938192   PMID:35944360   PMID:36036574   PMID:36215168   PMID:36424410   PMID:36526897   PMID:36690785   PMID:36736316   PMID:36861887   PMID:36896891   PMID:36897778   PMID:36931259  
PMID:37060507   PMID:37506885   PMID:37536630   PMID:37551745   PMID:37564002   PMID:37827155   PMID:38113892   PMID:38301887   PMID:38315842  


Genomics

Comparative Map Data
CDK9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,786,034 - 127,790,792 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,785,679 - 127,790,792 (+)EnsemblGRCh38hg38GRCh38
GRCh379130,548,313 - 130,553,071 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,588,152 - 129,592,184 (+)NCBINCBI36Build 36hg18NCBI36
Build 349127,627,890 - 127,631,917NCBI
Celera9101,199,168 - 101,203,915 (+)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,164,574 - 100,169,598 (+)NCBIHuRef
CHM1_19130,699,854 - 130,704,602 (+)NCBICHM1_1
T2T-CHM13v2.09139,993,485 - 139,998,243 (+)NCBIT2T-CHM13v2.0
Cdk9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,595,794 - 32,608,098 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,595,796 - 32,603,088 (-)EnsemblGRCm39 Ensembl
GRCm38232,705,782 - 32,712,784 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,705,784 - 32,713,076 (-)EnsemblGRCm38mm10GRCm38
MGSCv37232,561,302 - 32,568,304 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36232,529,447 - 32,534,794 (-)NCBIMGSCv36mm8
Celera232,412,389 - 32,419,391 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Cdk9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,394,168 - 36,399,016 (-)NCBIGRCr8
mRatBN7.2315,996,467 - 16,001,315 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl315,996,468 - 16,002,410 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx319,065,041 - 19,069,877 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,650,044 - 27,654,880 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0325,901,304 - 25,906,154 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0311,742,269 - 11,747,117 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl311,742,266 - 11,747,113 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0317,081,164 - 17,086,012 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,672,861 - 11,677,709 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1311,569,232 - 11,574,081 (-)NCBI
Celera310,737,357 - 10,742,205 (-)NCBICelera
Cytogenetic Map3p11NCBI
Cdk9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419873,289 - 883,160 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955419874,959 - 883,160 (-)NCBIChiLan1.0ChiLan1.0
CDK9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,558,761 - 11,569,295 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,561,106 - 11,571,580 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0998,905,468 - 98,909,923 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,580,862 - 127,584,936 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,580,862 - 127,584,935 (+)Ensemblpanpan1.1panPan2
CDK9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,615,271 - 55,619,493 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,615,827 - 55,620,236 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha954,808,829 - 54,812,940 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0956,536,951 - 56,541,065 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl956,536,954 - 56,541,348 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1955,296,987 - 55,301,098 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,611,719 - 55,615,827 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0955,703,144 - 55,707,256 (-)NCBIUU_Cfam_GSD_1.0
Cdk9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,678,357 - 195,682,223 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,446,858 - 15,452,796 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,446,864 - 15,450,750 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDK9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,276,841 - 268,281,052 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,277,083 - 268,280,493 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,142,973 - 302,146,162 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDK9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,342,240 - 10,346,792 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,342,801 - 10,346,502 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660795,874,123 - 5,879,334 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdk9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247607,760,474 - 7,765,711 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDK9
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_001261.4(CDK9):c.175-7C>T single nucleotide variant CDK9-related condition [RCV003926145]|not provided [RCV000961165] Chr9:127787511 [GRCh38]
Chr9:130549790 [GRCh37]
Chr9:9q34.11		 benign
NM_001261.4(CDK9):c.673C>T (p.Arg225Cys) single nucleotide variant not provided [RCV001588083]|not specified [RCV003987884] Chr9:127788612 [GRCh38]
Chr9:130550891 [GRCh37]
Chr9:9q34.11		 likely pathogenic
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 copy number loss Infantile epilepsy syndrome [RCV001265154] Chr9:130412438..131423964 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NC_000009.11:g.(?_130374663)_(131329276_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001304269] Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31 [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
NC_000009.11:g.(?_130216807)_(130700099_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001920331] Chr9:130216807..130700099 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_001261.4(CDK9):c.368T>G (p.Leu123Arg) single nucleotide variant not provided [RCV003129526] Chr9:127788049 [GRCh38]
Chr9:130550328 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001261.4(CDK9):c.502T>A (p.Phe168Ile) single nucleotide variant Inborn genetic diseases [RCV002911603] Chr9:127788283 [GRCh38]
Chr9:130550562 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.908G>T (p.Arg303Leu) single nucleotide variant Inborn genetic diseases [RCV002916016] Chr9:127789332 [GRCh38]
Chr9:130551611 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.71A>G (p.Lys24Arg) single nucleotide variant Inborn genetic diseases [RCV002802534] Chr9:127786219 [GRCh38]
Chr9:130548498 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.385G>A (p.Val129Met) single nucleotide variant Inborn genetic diseases [RCV002920507] Chr9:127788066 [GRCh38]
Chr9:130550345 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.698C>T (p.Thr233Met) single nucleotide variant Inborn genetic diseases [RCV003304251] Chr9:127788637 [GRCh38]
Chr9:130550916 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.876C>T (p.Ile292=) single nucleotide variant not provided [RCV003430256] Chr9:127789300 [GRCh38]
Chr9:130551579 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.1062C>T (p.Thr354=) single nucleotide variant CDK9-related condition [RCV003969507] Chr9:127789486 [GRCh38]
Chr9:130551765 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.318C>T (p.Cys106=) single nucleotide variant CDK9-related condition [RCV003983573] Chr9:127787999 [GRCh38]
Chr9:130550278 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.175-3C>T single nucleotide variant CDK9-related condition [RCV003967173] Chr9:127787515 [GRCh38]
Chr9:130549794 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.327C>T (p.Asp109=) single nucleotide variant CDK9-related condition [RCV003936776] Chr9:127788008 [GRCh38]
Chr9:130550287 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.754-8C>T single nucleotide variant CDK9-related condition [RCV003917033] Chr9:127789170 [GRCh38]
Chr9:130551449 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.656T>C (p.Met219Thr) single nucleotide variant CDK9-related condition [RCV003952026] Chr9:127788595 [GRCh38]
Chr9:130550874 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.1083C>T (p.Ala361=) single nucleotide variant CDK9-related condition [RCV003894482] Chr9:127789507 [GRCh38]
Chr9:130551786 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001261.4(CDK9):c.353T>C (p.Leu118Ser) single nucleotide variant CDK9-related condition [RCV003911495] Chr9:127788034 [GRCh38]
Chr9:130550313 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001261.4(CDK9):c.433-6C>T single nucleotide variant CDK9-related condition [RCV003976396] Chr9:127788208 [GRCh38]
Chr9:130550487 [GRCh37]
Chr9:9q34.11		 benign
NM_001261.4(CDK9):c.189C>A (p.Ala63=) single nucleotide variant CDK9-related condition [RCV003954594] Chr9:127787532 [GRCh38]
Chr9:130549811 [GRCh37]
Chr9:9q34.11		 benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR1-1hsa-miR-1Mirtarbaseexternal_infoProteomicsFunctional MTI (Weak)18668040

Predicted Target Of
Summary Value
Count of predictions:2214
Count of miRNA genes:878
Interacting mature miRNAs:1042
Transcripts:ENST00000373264, ENST00000373265, ENST00000421939, ENST00000480353, ENST00000491521, ENST00000498339
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D9S2040  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,552,088 - 130,552,325UniSTSGRCh37
Build 369129,591,909 - 129,592,146RGDNCBI36
Celera9101,202,951 - 101,203,188RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,168,634 - 100,168,871UniSTS
WI-19919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,552,047 - 130,552,325UniSTSGRCh37
Build 369129,591,868 - 129,592,146RGDNCBI36
Celera9101,202,910 - 101,203,188RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,168,593 - 100,168,871UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS
Whitehead-RH Map9464.3UniSTS
RH16566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,552,418 - 130,552,590UniSTSGRCh37
Build 369129,592,239 - 129,592,411RGDNCBI36
Celera9101,203,281 - 101,203,453RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,168,964 - 100,169,136UniSTS
GeneMap99-GB4 RH Map9387.84UniSTS
SHGC-33502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,552,388 - 130,552,537UniSTSGRCh37
Build 369129,592,209 - 129,592,358RGDNCBI36
Celera9101,203,251 - 101,203,400RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,168,934 - 100,169,083UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS
Whitehead-RH Map9464.3UniSTS
CDK9_3250.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,551,473 - 130,552,103UniSTSGRCh37
Build 369129,591,294 - 129,591,924RGDNCBI36
Celera9101,202,336 - 101,202,966RGD
HuRef9100,168,019 - 100,168,649UniSTS
WI-15190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,552,912 - 130,553,012UniSTSGRCh37
Build 369129,592,733 - 129,592,833RGDNCBI36
Celera9101,203,775 - 101,203,875RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,169,458 - 100,169,558UniSTS
GeneMap99-GB4 RH Map9387.84UniSTS
Whitehead-RH Map9470.4UniSTS
STS-L25676  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,551,868 - 130,552,054UniSTSGRCh37
Build 369129,591,689 - 129,591,875RGDNCBI36
Celera9101,202,731 - 101,202,917RGD
Cytogenetic Map9q34.1UniSTS
HuRef9100,168,414 - 100,168,600UniSTS
GeneMap99-GB4 RH Map10432.92UniSTS
NCBI RH Map101035.6UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2431 2928 1723 622 1913 464 4287 2101 3677 418 1449 1608 171 1204 2720 4
Low 8 63 3 2 38 1 70 96 57 1 11 5 4 1 68 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB451289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF255306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF517840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE549667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX091973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB120461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L25676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X80230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373264   ⟹   ENSP00000362361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,786,034 - 127,790,792 (+)Ensembl
RefSeq Acc Id: ENST00000421939   ⟹   ENSP00000395872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,785,679 - 127,787,575 (+)Ensembl
RefSeq Acc Id: ENST00000480353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,786,074 - 127,788,412 (+)Ensembl
RefSeq Acc Id: ENST00000491521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,787,500 - 127,788,605 (+)Ensembl
RefSeq Acc Id: ENST00000498339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,788,422 - 127,789,364 (+)Ensembl
RefSeq Acc Id: NM_001261   ⟹   NP_001252
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,786,034 - 127,790,792 (+)NCBI
GRCh379130,548,305 - 130,553,052 (+)ENTREZGENE
Build 369129,588,152 - 129,592,184 (+)NCBI Archive
HuRef9100,164,574 - 100,169,598 (+)ENTREZGENE
CHM1_19130,699,854 - 130,704,602 (+)NCBI
T2T-CHM13v2.09139,993,485 - 139,998,243 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001252   ⟸   NM_001261
- UniProtKB: Q5U006 (UniProtKB/Swiss-Prot),   Q5JU25 (UniProtKB/Swiss-Prot),   Q5JU24 (UniProtKB/Swiss-Prot),   Q96TF1 (UniProtKB/Swiss-Prot),   P50750 (UniProtKB/Swiss-Prot),   B2R9L6 (UniProtKB/TrEMBL),   B5BU53 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362361   ⟸   ENST00000373264
RefSeq Acc Id: ENSP00000395872   ⟸   ENST00000421939
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50750-F1-model_v2 AlphaFold P50750 1-372 view protein structure

Promoters
RGD ID:7216209
Promoter ID:EPDNEW_H13850
Type:initiation region
Name:CDK9_1
Description:cyclin dependent kinase 9
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
GRCh389127,786,034 - 127,786,094EPDNEW
RGD ID:6807375
Promoter ID:HG_KWN:65045
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:OTTHUMT00000054235,   OTTHUMT00000054236,   OTTHUMT00000054239
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,586,976 - 129,588,317 (+)MPROMDB
RGD ID:6807376
Promoter ID:HG_KWN:65047
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000054237
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,588,726 - 129,589,607 (+)MPROMDB
RGD ID:6807374
Promoter ID:HG_KWN:65048
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000054238
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,589,551 - 129,590,932 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1780 AgrOrtholog
COSMIC CDK9 COSMIC
Ensembl Genes ENSG00000136807 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000373264 ENTREZGENE
  ENST00000373264.5 UniProtKB/Swiss-Prot
  ENST00000421939.5 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000136807 GTEx
HGNC ID HGNC:1780 ENTREZGENE
Human Proteome Map CDK9 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1025 UniProtKB/Swiss-Prot
NCBI Gene 1025 ENTREZGENE
OMIM 603251 OMIM
PANTHER CELL DIVISION PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYCLIN-DEPENDENT KINASE 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Haspin_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26316 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R9L6 ENTREZGENE, UniProtKB/TrEMBL
  B5BU53 ENTREZGENE, UniProtKB/TrEMBL
  CDK9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5JU24 ENTREZGENE
  Q5JU25 ENTREZGENE
  Q5U006 ENTREZGENE
  Q96TF1 ENTREZGENE
  X6RE90_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5JU24 UniProtKB/Swiss-Prot
  Q5JU25 UniProtKB/Swiss-Prot
  Q5U006 UniProtKB/Swiss-Prot
  Q96TF1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-21 CDK9  cyclin dependent kinase 9  CDK9  cyclin-dependent kinase 9  Symbol and/or name change 5135510 APPROVED