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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for AK9

check button Gene summary
Gene informationGene symbol

AK9

Gene ID

221264

Gene nameadenylate kinase 9
SynonymsAK 9|AKD1|AKD2|C6orf199|C6orf224|dJ70A9.1
Cytomap

6q21

Type of geneprotein-coding
Descriptionadenylate kinase 9adenylate kinase domain containing 1adenylate kinase domain containing 2
Modification date20180519
UniProtAcc

Q5TCS8

ContextPubMed: AK9 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
AK9

GO:0006174

dADP phosphorylation

23416111

AK9

GO:0006186

dGDP phosphorylation

23416111

AK9

GO:0006756

AMP phosphorylation

23416111

AK9

GO:0006757

ATP generation from ADP

23416111

AK9

GO:0061508

CDP phosphorylation

23416111

AK9

GO:0061565

dAMP phosphorylation

23416111

AK9

GO:0061566

CMP phosphorylation

23416111

AK9

GO:0061567

dCMP phosphorylation

23416111

AK9

GO:0061568

GDP phosphorylation

23416111

AK9

GO:0061569

UDP phosphorylation

23416111

AK9

GO:0061570

dCDP phosphorylation

23416111

AK9

GO:0061571

TDP phosphorylation

23416111


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Exon skipping events across known transcript of Ensembl for AK9 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for AK9

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for AK9

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4617206109815183:109815298:109816540:109816643:109818667:109818766109816540:109816643ENSG00000155085.11ENST00000490722.1,ENST00000424296.2,ENST00000470564.1
exon_skip_4617226109818998:109819168:109820246:109820443:109827529:109827621109820246:109820443ENSG00000155085.11ENST00000424296.2,ENST00000470564.1
exon_skip_4617236109830381:109830583:109835426:109835640:109837059:109837278109835426:109835640ENSG00000155085.11ENST00000424296.2,ENST00000470564.1
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000466992.1
exon_skip_4617276109931567:109931716:109933212:109933296:109935385:109935499109933212:109933296ENSG00000155085.11ENST00000424296.2,ENST00000368948.2,ENST00000341338.6,ENST00000466992.1
exon_skip_4617286109935587:109935683:109940294:109940439:109954125:109954306109940294:109940439ENSG00000155085.11ENST00000424296.2,ENST00000368948.2,ENST00000341338.6
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENSG00000155085.11ENST00000424296.2,ENST00000368948.2,ENST00000341338.6
exon_skip_4617396109954446:109954526:109962720:109962819:109965816:109965891109962720:109962819ENSG00000155085.11ENST00000285397.5,ENST00000424296.2,ENST00000368948.2,ENST00000341338.6
exon_skip_4617416109965872:109965891:109977958:109978087:109980430:109980528109977958:109978087ENSG00000155085.11ENST00000532976.1,ENST00000285397.5,ENST00000448084.2,ENST00000424296.2,ENST00000524674.1,ENST00000605986.1,ENST00000368948.2,ENST00000341338.6
exon_skip_4617426109993317:109993370:109995400:109995464:109996831:109996959109995400:109995464ENSG00000155085.11ENST00000532976.1,ENST00000285397.5,ENST00000424296.2,ENST00000368948.2,ENST00000341338.6
exon_skip_4617436109995400:109995464:109996831:109996959:110011674:110011709109996831:109996959ENSG00000155085.11ENST00000532976.1
exon_skip_4617446109995400:109995464:109996831:109996959:110012349:110012415109996831:109996959ENSG00000155085.11ENST00000285397.5,ENST00000368948.2,ENST00000341338.6

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for AK9

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4617206109815183:109815298:109816540:109816643:109818667:109818766109816540:109816643ENSG00000155085.11ENST00000424296.2,ENST00000470564.1,ENST00000490722.1
exon_skip_4617216109818998:109819168:109820246:109820401:109827529:109827621109820246:109820401ENSG00000155085.11ENST00000490722.1
exon_skip_4617226109818998:109819168:109820246:109820443:109827529:109827621109820246:109820443ENSG00000155085.11ENST00000424296.2,ENST00000470564.1
exon_skip_4617236109830381:109830583:109835426:109835640:109837059:109837278109835426:109835640ENSG00000155085.11ENST00000424296.2,ENST00000470564.1
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000466992.1
exon_skip_4617276109931567:109931716:109933212:109933296:109935385:109935499109933212:109933296ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000466992.1,ENST00000368948.2
exon_skip_4617286109935587:109935683:109940294:109940439:109954125:109954306109940294:109940439ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000368948.2
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000368948.2
exon_skip_4617396109954446:109954526:109962720:109962819:109965816:109965891109962720:109962819ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000368948.2,ENST00000285397.5
exon_skip_4617416109965872:109965891:109977958:109978087:109980430:109980528109977958:109978087ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000368948.2,ENST00000285397.5,ENST00000524674.1,ENST00000448084.2,ENST00000605986.1,ENST00000532976.1
exon_skip_4617426109993317:109993370:109995400:109995464:109996831:109996959109995400:109995464ENSG00000155085.11ENST00000424296.2,ENST00000341338.6,ENST00000368948.2,ENST00000285397.5,ENST00000532976.1
exon_skip_4617436109995400:109995464:109996831:109996959:110011674:110011709109996831:109996959ENSG00000155085.11ENST00000532976.1
exon_skip_4617446109995400:109995464:109996831:109996959:110012349:110012415109996831:109996959ENSG00000155085.11ENST00000341338.6,ENST00000368948.2,ENST00000285397.5

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for AK9

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for AK9

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for AK9

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
AK9_SKCM_exon_skip_461739_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_461722
109820247109820443109820253109820253Frame_Shift_DelT-p.K1680fs
LIHCTCGA-DD-A39Y-01exon_skip_461722
109820247109820443109820270109820270Frame_Shift_DelT-p.M1675fs
LIHCTCGA-DD-A3A0-01exon_skip_461722
109820247109820443109820270109820270Frame_Shift_DelT-p.M1675fs
LIHCTCGA-DD-A1EG-01exon_skip_461722
109820247109820443109820283109820283Frame_Shift_DelC-p.G1670fs
LIHCTCGA-G3-A3CJ-01exon_skip_461722
109820247109820443109820335109820335Frame_Shift_DelA-p.L1653fs
LIHCTCGA-DD-A1EG-01exon_skip_461723
109835427109835640109835530109835530Frame_Shift_DelT-p.K1392fs
LIHCTCGA-DD-A3A0-01exon_skip_461739
109962721109962819109962799109962799Frame_Shift_DelT-p.K285fs
SKCMTCGA-EE-A2MS-06exon_skip_461739
109962721109962819109962759109962759Nonsense_MutationGAp.Q299*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
AK9_109954446_109954526_109962720_109962819_109965816_109965891_TCGA-EE-A2MS-06Sample: TCGA-EE-A2MS-06
Cancer type: SKCM
ESID: exon_skip_461739
Skipped exon start: 109962721
Skipped exon end: 109962819
Mutation start: 109962759
Mutation end: 109962759
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q299*
exon_skip_145677_SKCM_TCGA-EE-A2MS-06.png
boxplot
exon_skip_44038_SKCM_TCGA-EE-A2MS-06.png
boxplot
exon_skip_461739_SKCM_TCGA-EE-A2MS-06.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
EN_ENDOMETRIUM109820247109820443109820283109820283Frame_Shift_DelC-p.G1670fs
CORL88_LUNG109820247109820443109820339109820339Frame_Shift_DelC-p.E1652fs
ESS1_ENDOMETRIUM109820247109820443109820263109820263Missense_MutationGAp.S1677F
JHUEM7_ENDOMETRIUM109820247109820443109820263109820263Missense_MutationGAp.S1677F
BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE109820247109820443109820282109820282Missense_MutationGTp.H1671N
TE6_OESOPHAGUS109820247109820443109820389109820389Missense_MutationCTp.R1635H
COLO679_SKIN109835427109835640109835457109835457Missense_MutationCAp.V1417L
PC9_LUNG109835427109835640109835637109835637Missense_MutationTCp.S1357G
PC14_LUNG109835427109835640109835637109835637Missense_MutationTCp.S1357G
HCT15_LARGE_INTESTINE109885283109885483109885403109885403Missense_MutationTCp.I839V
NCIH1355_LUNG109885283109885483109885454109885454Missense_MutationAGp.Y822H
JHU022_UPPER_AERODIGESTIVE_TRACT109933213109933296109933275109933275Missense_MutationGAp.T544I
MERO84_LUNG109954126109954306109954244109954244Missense_MutationGAp.P379L
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE109954126109954306109954272109954272Missense_MutationCTp.E370K
NCIH1435_LUNG109954126109954306109954299109954299Missense_MutationCAp.G361C
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE109962721109962819109962743109962743Missense_MutationTGp.E304A
LP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE109962721109962819109962744109962744Missense_MutationCGp.E304Q
BXPC3_PANCREAS109962721109962819109962780109962780Missense_MutationCTp.A292T
HEC1B_ENDOMETRIUM109977959109978087109977979109977979Missense_MutationTCp.T247A
NCIH2085_LUNG109977959109978087109978063109978063Missense_MutationCAp.V219L
NCIH146_LUNG109995401109995464109995421109995421Missense_MutationCAp.W54L
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE109995401109995464109995439109995439Missense_MutationCTp.R48H
NCIH650_LUNG109996832109996959109996858109996858Missense_MutationCAp.V31F
NCIH2023_LUNG109996832109996959109996877109996877Missense_MutationATp.N24K
NCIH1339_LUNG109996832109996959109996880109996880Missense_MutationCGp.R23S
SARC9371_BONE109996832109996959109996918109996918Missense_MutationGAp.P11S
G401_SOFT_TISSUE109962721109962819109962807109962807Nonsense_MutationGAp.R283*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AK9

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1CESCrs10499052chr6:109885475G/A1.32e-03
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1BLCArs10499052chr6:109885475G/A2.26e-07
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1BLCArs10499052chr6:109885475G/A1.24e-03
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1KIRPrs10499052chr6:109885475G/A1.85e-11
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1KIRPrs10499052chr6:109885475G/A1.51e-04
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1LGGrs10499052chr6:109885475G/A1.18e-07
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1LGGrs10499052chr6:109885475G/A3.72e-07
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1LGGrs10499052chr6:109885475G/A2.46e-03
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1KIRCrs10499052chr6:109885475G/A8.18e-06
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1LUADrs10499052chr6:109885475G/A8.06e-06
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1LUADrs10499052chr6:109885475G/A2.55e-05
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1LUADrs10499052chr6:109885475G/A7.54e-04
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1PAADrs10499052chr6:109885475G/A8.36e-04
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1PRADrs10499052chr6:109885475G/A1.38e-04
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1SARCrs10499052chr6:109885475G/A1.97e-04
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1SARCrs10499052chr6:109885475G/A1.16e-03
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1STADrs10499052chr6:109885475G/A7.11e-04
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1THCArs10499052chr6:109885475G/A6.59e-08
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1THCArs10499052chr6:109885475G/A2.46e-03
exon_skip_4617256109884799:109884915:109885282:109885483:109885958:109886048109885282:109885483ENST00000424296.2,ENST00000341338.6,ENST00000466992.1UCECrs10499052chr6:109885475G/A2.03e-04
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6COADrs1406957chr6:109954252C/T4.53e-04
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6HNSCrs1406957chr6:109954252C/T3.04e-04
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6BRCArs1406957chr6:109954252C/T4.08e-10
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6KIRPrs1406957chr6:109954252C/T3.93e-06
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6LGGrs1406957chr6:109954252C/T1.36e-07
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6KIRCrs1406957chr6:109954252C/T3.16e-11
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6LUADrs1406957chr6:109954252C/T4.15e-08
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6LUSCrs1406957chr6:109954252C/T2.28e-05
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6READrs1406957chr6:109954252C/T6.69e-05
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6PCPGrs1406957chr6:109954252C/T9.71e-04
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6PAADrs1406957chr6:109954252C/T8.69e-06
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6PRADrs1406957chr6:109954252C/T1.31e-08
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6SARCrs1406957chr6:109954252C/T1.68e-04
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6THYMrs1406957chr6:109954252C/T7.01e-04
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6THCArs1406957chr6:109954252C/T1.61e-05
exon_skip_4617356109940294:109940439:109954125:109954306:109954386:109954526109954125:109954306ENST00000424296.2,ENST00000368948.2,ENST00000341338.6UVMrs1406957chr6:109954252C/T9.77e-05

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AK9


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AK9


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RelatedDrugs for AK9

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AK9

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource