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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 HK1

check button Gene summary
Gene informationGene symbol

HK1

Gene ID

3098

Gene namehexokinase 1
SynonymsHK|HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1|RP79|hexokinase
Cytomap

10q22.1

Type of geneprotein-coding
Descriptionhexokinase-1brain form hexokinaseglycolytic enzymehexokinase IRhexokinase type I
Modification date20180523
UniProtAcc

P19367

ContextPubMed: HK1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)
- A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).(19536174)

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

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Exon skipping events across known transcript of Ensembl for HK1 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 HK1

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 HK1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_420371071055388:71055436:71098253:71098432:71103582:7110359971098253:71098432ENSG00000156515.17ENST00000480047.1
exon_skip_420391071103582:71103745:71119652:71119801:71124538:7112454271119652:71119801ENSG00000156515.17ENST00000494253.1,ENST00000436817.1,ENST00000360289.2,ENST00000421088.1,ENST00000450646.1,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1
exon_skip_420401071119652:71119801:71124538:71124658:71128291:7112838771124538:71124658ENSG00000156515.17ENST00000494253.1,ENST00000436817.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1
exon_skip_420411071124538:71124658:71128291:71128387:71128992:7112909271128291:71128387ENSG00000156515.17ENST00000494253.1,ENST00000436817.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1
exon_skip_420421071128992:71129092:71129196:71129380:71136689:7113672671129196:71129380ENSG00000156515.17ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1
exon_skip_420431071129196:71129380:71136689:71136845:71139617:7113985171136689:71136845ENSG00000156515.17ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420471071136689:71136845:71139617:71139851:71142242:7114254771139617:71139851ENSG00000156515.17ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420481071139617:71139851:71142242:71142547:71144088:7114423771142242:71142547ENSG00000156515.17ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420531071144088:71144237:71144551:71144671:71146078:7114617471144551:71144671ENSG00000156515.17ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420541071144551:71144671:71146078:71146174:71148952:7114905271146078:71146174ENSG00000156515.17ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420551071146078:71146174:71148952:71149052:71151880:7115206471148952:71149052ENSG00000156515.17ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420571071148952:71149052:71151880:71152064:71154705:7115486171151880:71152064ENSG00000156515.17ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420631071152034:71152064:71154705:71154861:71158350:7115858471154705:71154861ENSG00000156515.17ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420651071154799:71154861:71158350:71158584:71160746:7116087471158350:71158584ENSG00000156515.17ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6

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

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Exon skipping events with PSIs in GTEx for HK1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_420311071029760:71029864:71030762:71030852:71042284:7104240671030762:71030852ENSG00000156515.17ENST00000448642.2,ENST00000476368.1
exon_skip_420321071029760:71029864:71038279:71038541:71042284:7104240671038279:71038541ENSG00000156515.17ENST00000479594.1
exon_skip_420361071055388:71055436:71060524:71060617:71103582:7110374571060524:71060617ENSG00000156515.17ENST00000360289.2,ENST00000483077.1,ENST00000421088.1
exon_skip_420371071055388:71055436:71098253:71098432:71103582:7110359971098253:71098432ENSG00000156515.17ENST00000480047.1
exon_skip_420391071103582:71103745:71119652:71119801:71124538:7112454271119652:71119801ENSG00000156515.17ENST00000450646.1,ENST00000360289.2,ENST00000448642.2,ENST00000421088.1,ENST00000404387.2,ENST00000436817.1,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1
exon_skip_420401071119652:71119801:71124538:71124658:71128291:7112838771124538:71124658ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000436817.1,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1
exon_skip_420411071124538:71124658:71128291:71128387:71128992:7112909271128291:71128387ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000436817.1,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1
exon_skip_420421071128992:71129092:71129196:71129380:71136689:7113672671129196:71129380ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1
exon_skip_420431071129196:71129380:71136689:71136845:71139617:7113985171136689:71136845ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000494253.1
exon_skip_420471071136689:71136845:71139617:71139851:71142242:7114254771139617:71139851ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000494253.1
exon_skip_420481071139617:71139851:71142242:71142547:71144088:7114423771142242:71142547ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000494253.1
exon_skip_420531071144088:71144237:71144551:71144671:71146078:7114617471144551:71144671ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420541071144551:71144671:71146078:71146174:71148952:7114905271146078:71146174ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420551071146078:71146174:71148952:71149052:71151880:7115206471148952:71149052ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420571071148952:71149052:71151880:71152064:71154705:7115486171151880:71152064ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420631071152034:71152064:71154705:71154861:71158350:7115858471154705:71154861ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6
exon_skip_420651071154799:71154861:71158350:71158584:71160746:7116087471158350:71158584ENSG00000156515.17ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6

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 HK1

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
ENST000003594267111965271119801Frame-shift
ENST000003594267112919671129380Frame-shift
ENST000003594267114224271142547Frame-shift
ENST000003594267114895271149052Frame-shift
ENST000003594267115188071152064Frame-shift
ENST000003594267112453871124658In-frame
ENST000003594267112829171128387In-frame
ENST000003594267113668971136845In-frame
ENST000003594267113961771139851In-frame
ENST000003594267114455171144671In-frame
ENST000003594267114607871146174In-frame
ENST000003594267115470571154861In-frame
ENST000003594267115835071158584In-frame

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
ENST000003594267111965271119801Frame-shift
ENST000003594267112919671129380Frame-shift
ENST000003594267114224271142547Frame-shift
ENST000003594267114895271149052Frame-shift
ENST000003594267115188071152064Frame-shift
ENST000003594267112453871124658In-frame
ENST000003594267112829171128387In-frame
ENST000003594267113668971136845In-frame
ENST000003594267113961771139851In-frame
ENST000003594267114455171144671In-frame
ENST000003594267114607871146174In-frame
ENST000003594267115470571154861In-frame
ENST000003594267115835071158584In-frame

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Infer the effects of exon skipping event on protein functional features for HK1

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
ENST0000035942636229177112453871124658480599125165
ENST0000035942636229177112829171128387600695165197
ENST00000359426362291771136689711368459801135292343
ENST000003594263622917711396177113985111361369344421
ENST000003594263622917711445517114467118241943573613
ENST000003594263622917711460787114617419442039613645
ENST000003594263622917711547057115486123242479740791
ENST000003594263622917711583507115858424802713792869

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
ENST0000035942636229177112453871124658480599125165
ENST0000035942636229177112829171128387600695165197
ENST00000359426362291771136689711368459801135292343
ENST000003594263622917711396177113985111361369344421
ENST000003594263622917711445517114467118241943573613
ENST000003594263622917711460787114617419442039613645
ENST000003594263622917711547057115486123242479740791
ENST000003594263622917711583507115858424802713792869

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 HK1

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_42040
71124539711246587112464771124647Frame_Shift_DelA-p.K197fs
BLCATCGA-CF-A47X-01exon_skip_42048
71142243711425477114226871142269Frame_Shift_Ins-TTp.L466fs
LIHCTCGA-BC-A112-01exon_skip_42063
71154706711548617115474771154748Frame_Shift_Ins-Cp.A789fs
UCECTCGA-AP-A0LT-01exon_skip_42043
71136690711368457113680571136805Nonsense_MutationCTp.R331*
UCECTCGA-AP-A0LT-01exon_skip_42043
71136690711368457113680571136805Nonsense_MutationCTp.R335*
COADTCGA-AZ-4315-01exon_skip_42047
71139618711398517113964671139646Nonsense_MutationGTp.E358X
BRCATCGA-A2-A0EX-01exon_skip_42063
71154706711548617115485171154851Nonsense_MutationCTp.Q793*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
MCC13_SKIN71119653711198017111969871119698Missense_MutationGAp.R91Q
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71119653711198017111972171119721Missense_MutationCTp.H99Y
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71119653711198017111974271119742Missense_MutationCTp.H106Y
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71119653711198017111977871119778Missense_MutationAGp.I118V
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71129197711293807112923071129230Missense_MutationTCp.L242P
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM71129197711293807112926571129265Missense_MutationAGp.R254G
ZR7530_BREAST71129197711293807112934571129345Missense_MutationGCp.E280D
NCIH1339_LUNG71129197711293807112936471129364Missense_MutationACp.N287H
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71136690711368457113670971136709Missense_MutationGAp.G299S
HTCC3_THYROID71136690711368457113676071136760Missense_MutationGCp.E316Q
SKNFI_AUTONOMIC_GANGLIA71139618711398517113977271139772Missense_MutationCTp.R396C
EFM192A_BREAST71139618711398517113977971139779Missense_MutationGAp.R398H
COLO684_ENDOMETRIUM71142243711425477114235071142350Missense_MutationCTp.A458V
YH13_CENTRAL_NERVOUS_SYSTEM71142243711425477114237971142379Missense_MutationCTp.R468W
SW156_KIDNEY71144552711446717114461271144612Missense_MutationCTp.P594S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71148953711490527114903871149038Missense_MutationTGp.V674G
BICR18_UPPER_AERODIGESTIVE_TRACT71151881711520647115194071151940Missense_MutationGAp.D699N
MORCPR_LUNG71151881711520647115198371151983Missense_MutationGAp.G713E
JHH1_LIVER71151881711520647115200171152001Missense_MutationAGp.D719G
IGROV1_OVARY71151881711520647115205271152052Missense_MutationCAp.A736D
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE71154706711548617115482271154822Missense_MutationGAp.R779Q
BT474_BREAST71154706711548617115485171154851Missense_MutationCGp.Q789E
EN_ENDOMETRIUM71158351711585847115839571158395Missense_MutationTCp.L807P
NCIH1623_LUNG71158351711585847115851171158511Missense_MutationCTp.R846C
IGROV1_OVARY71158351711585847115851271158512Missense_MutationGAp.R846H
NCIBL2087_MATCHED_NORMAL_TISSUE71158351711585847115851671158516Missense_MutationGTp.E847D
NCIH2087_LUNG71158351711585847115851671158516Missense_MutationGTp.E847D
NCIH378_LUNG71158351711585847115852771158527Missense_MutationTAp.L851Q
OC316_OVARY71128292711283877112838271128382Nonsense_MutationCTp.R196*
HEC1_ENDOMETRIUM71128292711283877112838271128382Nonsense_MutationCTp.R196*
OC314_OVARY71128292711283877112838271128382Nonsense_MutationCTp.R196*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HK1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HK1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HK1


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RelatedDrugs for HK1

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 HK1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
HK1C3150343HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY2CTD_human;ORPHANET;UNIPROT
HK1C0011853Diabetes Mellitus, Experimental1CTD_human
HK1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HK1C0036341Schizophrenia1PSYGENET
HK1C0151744Myocardial Ischemia1CTD_human