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![]() | Open reading frame (ORF) annotation in the exon skipping event |
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![]() | Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
![]() | Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for HK1 |
Gene summary |
| Gene information | Gene symbol | HK1 | Gene ID | 3098 |
| Gene name | hexokinase 1 | |
| Synonyms | HK|HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1|RP79|hexokinase | |
| Cytomap | 10q22.1 | |
| Type of gene | protein-coding | |
| Description | hexokinase-1brain form hexokinaseglycolytic enzymehexokinase IRhexokinase type I | |
| Modification date | 20180523 | |
| UniProtAcc | P19367 | |
| Context | PubMed: 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) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for HK1 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for HK1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HK1 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_42037 | 10 | 71055388:71055436:71098253:71098432:71103582:71103599 | 71098253:71098432 | ENSG00000156515.17 | ENST00000480047.1 |
| exon_skip_42039 | 10 | 71103582:71103745:71119652:71119801:71124538:71124542 | 71119652:71119801 | ENSG00000156515.17 | ENST00000494253.1,ENST00000436817.1,ENST00000360289.2,ENST00000421088.1,ENST00000450646.1,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1 |
| exon_skip_42040 | 10 | 71119652:71119801:71124538:71124658:71128291:71128387 | 71124538:71124658 | ENSG00000156515.17 | ENST00000494253.1,ENST00000436817.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1 |
| exon_skip_42041 | 10 | 71124538:71124658:71128291:71128387:71128992:71129092 | 71128291:71128387 | ENSG00000156515.17 | ENST00000494253.1,ENST00000436817.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1 |
| exon_skip_42042 | 10 | 71128992:71129092:71129196:71129380:71136689:71136726 | 71129196:71129380 | ENSG00000156515.17 | ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1 |
| exon_skip_42043 | 10 | 71129196:71129380:71136689:71136845:71139617:71139851 | 71136689:71136845 | ENSG00000156515.17 | ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42047 | 10 | 71136689:71136845:71139617:71139851:71142242:71142547 | 71139617:71139851 | ENSG00000156515.17 | ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42048 | 10 | 71139617:71139851:71142242:71142547:71144088:71144237 | 71142242:71142547 | ENSG00000156515.17 | ENST00000494253.1,ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42053 | 10 | 71144088:71144237:71144551:71144671:71146078:71146174 | 71144551:71144671 | ENSG00000156515.17 | ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42054 | 10 | 71144551:71144671:71146078:71146174:71148952:71149052 | 71146078:71146174 | ENSG00000156515.17 | ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42055 | 10 | 71146078:71146174:71148952:71149052:71151880:71152064 | 71148952:71149052 | ENSG00000156515.17 | ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42057 | 10 | 71148952:71149052:71151880:71152064:71154705:71154861 | 71151880:71152064 | ENSG00000156515.17 | ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42063 | 10 | 71152034:71152064:71154705:71154861:71158350:71158584 | 71154705:71154861 | ENSG00000156515.17 | ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42065 | 10 | 71154799:71154861:71158350:71158584:71160746:71160874 | 71158350:71158584 | ENSG00000156515.17 | ENST00000360289.2,ENST00000404387.2,ENST00000448642.2,ENST00000298649.3,ENST00000359426.6 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HK1 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_42031 | 10 | 71029760:71029864:71030762:71030852:71042284:71042406 | 71030762:71030852 | ENSG00000156515.17 | ENST00000448642.2,ENST00000476368.1 |
| exon_skip_42032 | 10 | 71029760:71029864:71038279:71038541:71042284:71042406 | 71038279:71038541 | ENSG00000156515.17 | ENST00000479594.1 |
| exon_skip_42036 | 10 | 71055388:71055436:71060524:71060617:71103582:71103745 | 71060524:71060617 | ENSG00000156515.17 | ENST00000360289.2,ENST00000483077.1,ENST00000421088.1 |
| exon_skip_42037 | 10 | 71055388:71055436:71098253:71098432:71103582:71103599 | 71098253:71098432 | ENSG00000156515.17 | ENST00000480047.1 |
| exon_skip_42039 | 10 | 71103582:71103745:71119652:71119801:71124538:71124542 | 71119652:71119801 | ENSG00000156515.17 | ENST00000450646.1,ENST00000360289.2,ENST00000448642.2,ENST00000421088.1,ENST00000404387.2,ENST00000436817.1,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1 |
| exon_skip_42040 | 10 | 71119652:71119801:71124538:71124658:71128291:71128387 | 71124538:71124658 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000436817.1,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1 |
| exon_skip_42041 | 10 | 71124538:71124658:71128291:71128387:71128992:71129092 | 71128291:71128387 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000436817.1,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1 |
| exon_skip_42042 | 10 | 71128992:71129092:71129196:71129380:71136689:71136726 | 71129196:71129380 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000493591.1,ENST00000494253.1 |
| exon_skip_42043 | 10 | 71129196:71129380:71136689:71136845:71139617:71139851 | 71136689:71136845 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000494253.1 |
| exon_skip_42047 | 10 | 71136689:71136845:71139617:71139851:71142242:71142547 | 71139617:71139851 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000494253.1 |
| exon_skip_42048 | 10 | 71139617:71139851:71142242:71142547:71144088:71144237 | 71142242:71142547 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6,ENST00000494253.1 |
| exon_skip_42053 | 10 | 71144088:71144237:71144551:71144671:71146078:71146174 | 71144551:71144671 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42054 | 10 | 71144551:71144671:71146078:71146174:71148952:71149052 | 71146078:71146174 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42055 | 10 | 71146078:71146174:71148952:71149052:71151880:71152064 | 71148952:71149052 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42057 | 10 | 71148952:71149052:71151880:71152064:71154705:71154861 | 71151880:71152064 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42063 | 10 | 71152034:71152064:71154705:71154861:71158350:71158584 | 71154705:71154861 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6 |
| exon_skip_42065 | 10 | 71154799:71154861:71158350:71158584:71160746:71160874 | 71158350:71158584 | ENSG00000156515.17 | ENST00000360289.2,ENST00000448642.2,ENST00000404387.2,ENST00000298649.3,ENST00000359426.6 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HK1 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359426 | 71119652 | 71119801 | Frame-shift |
| ENST00000359426 | 71129196 | 71129380 | Frame-shift |
| ENST00000359426 | 71142242 | 71142547 | Frame-shift |
| ENST00000359426 | 71148952 | 71149052 | Frame-shift |
| ENST00000359426 | 71151880 | 71152064 | Frame-shift |
| ENST00000359426 | 71124538 | 71124658 | In-frame |
| ENST00000359426 | 71128291 | 71128387 | In-frame |
| ENST00000359426 | 71136689 | 71136845 | In-frame |
| ENST00000359426 | 71139617 | 71139851 | In-frame |
| ENST00000359426 | 71144551 | 71144671 | In-frame |
| ENST00000359426 | 71146078 | 71146174 | In-frame |
| ENST00000359426 | 71154705 | 71154861 | In-frame |
| ENST00000359426 | 71158350 | 71158584 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000359426 | 71119652 | 71119801 | Frame-shift |
| ENST00000359426 | 71129196 | 71129380 | Frame-shift |
| ENST00000359426 | 71142242 | 71142547 | Frame-shift |
| ENST00000359426 | 71148952 | 71149052 | Frame-shift |
| ENST00000359426 | 71151880 | 71152064 | Frame-shift |
| ENST00000359426 | 71124538 | 71124658 | In-frame |
| ENST00000359426 | 71128291 | 71128387 | In-frame |
| ENST00000359426 | 71136689 | 71136845 | In-frame |
| ENST00000359426 | 71139617 | 71139851 | In-frame |
| ENST00000359426 | 71144551 | 71144671 | In-frame |
| ENST00000359426 | 71146078 | 71146174 | In-frame |
| ENST00000359426 | 71154705 | 71154861 | In-frame |
| ENST00000359426 | 71158350 | 71158584 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HK1 |
Exon skipping at the protein sequence level and followed lost functional features.* Click on the image to enlarge it in a new window. |
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Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000359426 | 3622 | 917 | 71124538 | 71124658 | 480 | 599 | 125 | 165 |
| ENST00000359426 | 3622 | 917 | 71128291 | 71128387 | 600 | 695 | 165 | 197 |
| ENST00000359426 | 3622 | 917 | 71136689 | 71136845 | 980 | 1135 | 292 | 343 |
| ENST00000359426 | 3622 | 917 | 71139617 | 71139851 | 1136 | 1369 | 344 | 421 |
| ENST00000359426 | 3622 | 917 | 71144551 | 71144671 | 1824 | 1943 | 573 | 613 |
| ENST00000359426 | 3622 | 917 | 71146078 | 71146174 | 1944 | 2039 | 613 | 645 |
| ENST00000359426 | 3622 | 917 | 71154705 | 71154861 | 2324 | 2479 | 740 | 791 |
| ENST00000359426 | 3622 | 917 | 71158350 | 71158584 | 2480 | 2713 | 792 | 869 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000359426 | 3622 | 917 | 71124538 | 71124658 | 480 | 599 | 125 | 165 |
| ENST00000359426 | 3622 | 917 | 71128291 | 71128387 | 600 | 695 | 165 | 197 |
| ENST00000359426 | 3622 | 917 | 71136689 | 71136845 | 980 | 1135 | 292 | 343 |
| ENST00000359426 | 3622 | 917 | 71139617 | 71139851 | 1136 | 1369 | 344 | 421 |
| ENST00000359426 | 3622 | 917 | 71144551 | 71144671 | 1824 | 1943 | 573 | 613 |
| ENST00000359426 | 3622 | 917 | 71146078 | 71146174 | 1944 | 2039 | 613 | 645 |
| ENST00000359426 | 3622 | 917 | 71154705 | 71154861 | 2324 | 2479 | 740 | 791 |
| ENST00000359426 | 3622 | 917 | 71158350 | 71158584 | 2480 | 2713 | 792 | 869 |
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 feature | Description of feature |
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 feature | Description of feature |
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SNVs in the skipped exons for HK1 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_42040 | 71124539 | 71124658 | 71124647 | 71124647 | Frame_Shift_Del | A | - | p.K197fs |
| BLCA | TCGA-CF-A47X-01 | exon_skip_42048 | 71142243 | 71142547 | 71142268 | 71142269 | Frame_Shift_Ins | - | TT | p.L466fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_42063 | 71154706 | 71154861 | 71154747 | 71154748 | Frame_Shift_Ins | - | C | p.A789fs |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_42043 | 71136690 | 71136845 | 71136805 | 71136805 | Nonsense_Mutation | C | T | p.R331* |
| UCEC | TCGA-AP-A0LT-01 | exon_skip_42043 | 71136690 | 71136845 | 71136805 | 71136805 | Nonsense_Mutation | C | T | p.R335* |
| COAD | TCGA-AZ-4315-01 | exon_skip_42047 | 71139618 | 71139851 | 71139646 | 71139646 | Nonsense_Mutation | G | T | p.E358X |
| BRCA | TCGA-A2-A0EX-01 | exon_skip_42063 | 71154706 | 71154861 | 71154851 | 71154851 | Nonsense_Mutation | C | T | p.Q793* |
- Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| MCC13_SKIN | 71119653 | 71119801 | 71119698 | 71119698 | Missense_Mutation | G | A | p.R91Q |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71119653 | 71119801 | 71119721 | 71119721 | Missense_Mutation | C | T | p.H99Y |
| FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71119653 | 71119801 | 71119742 | 71119742 | Missense_Mutation | C | T | p.H106Y |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71119653 | 71119801 | 71119778 | 71119778 | Missense_Mutation | A | G | p.I118V |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71129197 | 71129380 | 71129230 | 71129230 | Missense_Mutation | T | C | p.L242P |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 71129197 | 71129380 | 71129265 | 71129265 | Missense_Mutation | A | G | p.R254G |
| ZR7530_BREAST | 71129197 | 71129380 | 71129345 | 71129345 | Missense_Mutation | G | C | p.E280D |
| NCIH1339_LUNG | 71129197 | 71129380 | 71129364 | 71129364 | Missense_Mutation | A | C | p.N287H |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71136690 | 71136845 | 71136709 | 71136709 | Missense_Mutation | G | A | p.G299S |
| HTCC3_THYROID | 71136690 | 71136845 | 71136760 | 71136760 | Missense_Mutation | G | C | p.E316Q |
| SKNFI_AUTONOMIC_GANGLIA | 71139618 | 71139851 | 71139772 | 71139772 | Missense_Mutation | C | T | p.R396C |
| EFM192A_BREAST | 71139618 | 71139851 | 71139779 | 71139779 | Missense_Mutation | G | A | p.R398H |
| COLO684_ENDOMETRIUM | 71142243 | 71142547 | 71142350 | 71142350 | Missense_Mutation | C | T | p.A458V |
| YH13_CENTRAL_NERVOUS_SYSTEM | 71142243 | 71142547 | 71142379 | 71142379 | Missense_Mutation | C | T | p.R468W |
| SW156_KIDNEY | 71144552 | 71144671 | 71144612 | 71144612 | Missense_Mutation | C | T | p.P594S |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71148953 | 71149052 | 71149038 | 71149038 | Missense_Mutation | T | G | p.V674G |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 71151881 | 71152064 | 71151940 | 71151940 | Missense_Mutation | G | A | p.D699N |
| MORCPR_LUNG | 71151881 | 71152064 | 71151983 | 71151983 | Missense_Mutation | G | A | p.G713E |
| JHH1_LIVER | 71151881 | 71152064 | 71152001 | 71152001 | Missense_Mutation | A | G | p.D719G |
| IGROV1_OVARY | 71151881 | 71152064 | 71152052 | 71152052 | Missense_Mutation | C | A | p.A736D |
| KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 71154706 | 71154861 | 71154822 | 71154822 | Missense_Mutation | G | A | p.R779Q |
| BT474_BREAST | 71154706 | 71154861 | 71154851 | 71154851 | Missense_Mutation | C | G | p.Q789E |
| EN_ENDOMETRIUM | 71158351 | 71158584 | 71158395 | 71158395 | Missense_Mutation | T | C | p.L807P |
| NCIH1623_LUNG | 71158351 | 71158584 | 71158511 | 71158511 | Missense_Mutation | C | T | p.R846C |
| IGROV1_OVARY | 71158351 | 71158584 | 71158512 | 71158512 | Missense_Mutation | G | A | p.R846H |
| NCIBL2087_MATCHED_NORMAL_TISSUE | 71158351 | 71158584 | 71158516 | 71158516 | Missense_Mutation | G | T | p.E847D |
| NCIH2087_LUNG | 71158351 | 71158584 | 71158516 | 71158516 | Missense_Mutation | G | T | p.E847D |
| NCIH378_LUNG | 71158351 | 71158584 | 71158527 | 71158527 | Missense_Mutation | T | A | p.L851Q |
| OC316_OVARY | 71128292 | 71128387 | 71128382 | 71128382 | Nonsense_Mutation | C | T | p.R196* |
| HEC1_ENDOMETRIUM | 71128292 | 71128387 | 71128382 | 71128382 | Nonsense_Mutation | C | T | p.R196* |
| OC314_OVARY | 71128292 | 71128387 | 71128382 | 71128382 | Nonsense_Mutation | C | T | p.R196* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HK1 |
sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA 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 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HK1 | C3150343 | HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY | 2 | CTD_human;ORPHANET;UNIPROT |
| HK1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| HK1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| HK1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| HK1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |