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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 HCK |
 Gene summary |
| Gene information | Gene symbol | HCK | Gene ID | 3055 |
| Gene name | HCK proto-oncogene, Src family tyrosine kinase | |
| Synonyms | JTK9|p59Hck|p61Hck | |
| Cytomap | 20q11.21 | |
| Type of gene | protein-coding | |
| Description | tyrosine-protein kinase HCKhematopoietic cell kinasehemopoietic cell kinasep59-HCK/p60-HCK | |
| Modification date | 20180523 | |
| UniProtAcc | P08631 | |
| Context | PubMed: HCK [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HCK | GO:0071801 | regulation of podosome assembly | 15998323 |
| HCK | GO:2000251 | positive regulation of actin cytoskeleton reorganization | 15998323 |
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Exon skipping events across known transcript of Ensembl for HCK 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 HCK |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HCK |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349994 | 20 | 30640090:30640289:30642018:30642084:30659464:30659585 | 30642018:30642084 | ENSG00000101336.8 | ENST00000262651.3 |
| exon_skip_349995 | 20 | 30640090:30640289:30657490:30657554:30659464:30659585 | 30657490:30657554 | ENSG00000101336.8 | ENST00000538448.1,ENST00000486475.1 |
| exon_skip_349996 | 20 | 30661121:30661164:30661518:30661621:30662425:30662524 | 30661518:30661621 | ENSG00000101336.8 | ENST00000538448.1,ENST00000486475.1,ENST00000375852.2,ENST00000520553.1,ENST00000262651.3,ENST00000534862.1 |
| exon_skip_349997 | 20 | 30661121:30661164:30661521:30661621:30662425:30662524 | 30661521:30661621 | ENSG00000101336.8 | ENST00000518730.1,ENST00000375862.2 |
| exon_skip_349998 | 20 | 30662425:30662524:30667576:30667680:30671696:30671846 | 30667576:30667680 | ENSG00000101336.8 | ENST00000538448.1,ENST00000518730.1,ENST00000486475.1,ENST00000375862.2,ENST00000375852.2,ENST00000520553.1,ENST00000262651.3,ENST00000534862.1 |
| exon_skip_350000 | 20 | 30671696:30671846:30672193:30672346:30674430:30674610 | 30672193:30672346 | ENSG00000101336.8 | ENST00000538448.1,ENST00000518730.1,ENST00000486475.1,ENST00000375862.2,ENST00000375852.2,ENST00000520553.1,ENST00000262651.3,ENST00000534862.1 |
| exon_skip_350001 | 20 | 30676370:30676447:30681665:30681819:30686806:30686938 | 30681665:30681819 | ENSG00000101336.8 | ENST00000538448.1,ENST00000518730.1,ENST00000486475.1,ENST00000375862.2,ENST00000375852.2,ENST00000520553.1,ENST00000262651.3,ENST00000534862.1 |
| exon_skip_350004 | 20 | 30681665:30681819:30686806:30686938:30689119:30689322 | 30686806:30686938 | ENSG00000101336.8 | ENST00000538448.1,ENST00000518730.1,ENST00000486475.1,ENST00000375862.2,ENST00000375852.2,ENST00000520553.1,ENST00000262651.3,ENST00000534862.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HCK |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349994 | 20 | 30640090:30640289:30642018:30642084:30659464:30659585 | 30642018:30642084 | ENSG00000101336.8 | ENST00000262651.3 |
| exon_skip_349995 | 20 | 30640090:30640289:30657490:30657554:30659464:30659585 | 30657490:30657554 | ENSG00000101336.8 | ENST00000538448.1,ENST00000486475.1 |
| exon_skip_349996 | 20 | 30661121:30661164:30661518:30661621:30662425:30662524 | 30661518:30661621 | ENSG00000101336.8 | ENST00000534862.1,ENST00000538448.1,ENST00000486475.1,ENST00000262651.3,ENST00000520553.1,ENST00000375852.2 |
| exon_skip_349997 | 20 | 30661121:30661164:30661521:30661621:30662425:30662524 | 30661521:30661621 | ENSG00000101336.8 | ENST00000375862.2,ENST00000518730.1 |
| exon_skip_349998 | 20 | 30662425:30662524:30667576:30667680:30671696:30671846 | 30667576:30667680 | ENSG00000101336.8 | ENST00000534862.1,ENST00000538448.1,ENST00000375862.2,ENST00000486475.1,ENST00000262651.3,ENST00000520553.1,ENST00000518730.1,ENST00000375852.2 |
| exon_skip_350000 | 20 | 30671696:30671846:30672193:30672346:30674430:30674610 | 30672193:30672346 | ENSG00000101336.8 | ENST00000534862.1,ENST00000538448.1,ENST00000375862.2,ENST00000486475.1,ENST00000262651.3,ENST00000520553.1,ENST00000518730.1,ENST00000375852.2 |
| exon_skip_350001 | 20 | 30676370:30676447:30681665:30681819:30686806:30686938 | 30681665:30681819 | ENSG00000101336.8 | ENST00000534862.1,ENST00000538448.1,ENST00000375862.2,ENST00000486475.1,ENST00000262651.3,ENST00000520553.1,ENST00000518730.1,ENST00000375852.2 |
| exon_skip_350004 | 20 | 30681665:30681819:30686806:30686938:30689119:30689322 | 30686806:30686938 | ENSG00000101336.8 | ENST00000534862.1,ENST00000538448.1,ENST00000375862.2,ENST00000486475.1,ENST00000262651.3,ENST00000520553.1,ENST00000518730.1,ENST00000375852.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HCK |
| 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 |
| ENST00000534862 | 30661518 | 30661621 | Frame-shift |
| ENST00000534862 | 30667576 | 30667680 | Frame-shift |
| ENST00000534862 | 30681665 | 30681819 | Frame-shift |
| ENST00000534862 | 30672193 | 30672346 | In-frame |
| ENST00000534862 | 30686806 | 30686938 | 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 |
| ENST00000534862 | 30661518 | 30661621 | Frame-shift |
| ENST00000534862 | 30667576 | 30667680 | Frame-shift |
| ENST00000534862 | 30681665 | 30681819 | Frame-shift |
| ENST00000534862 | 30672193 | 30672346 | In-frame |
| ENST00000534862 | 30686806 | 30686938 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HCK |
| 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 |
| ENST00000534862 | 2234 | 526 | 30672193 | 30672346 | 986 | 1138 | 207 | 258 |
| ENST00000534862 | 2234 | 526 | 30686806 | 30686938 | 1550 | 1681 | 395 | 439 |
| 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 |
| ENST00000534862 | 2234 | 526 | 30672193 | 30672346 | 986 | 1138 | 207 | 258 |
| ENST00000534862 | 2234 | 526 | 30686806 | 30686938 | 1550 | 1681 | 395 | 439 |
| 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 HCK |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| STAD | TCGA-CG-4300-01 | exon_skip_350004 | 30686807 | 30686938 | 30686829 | 30686829 | Nonsense_Mutation | G | A | p.W423* |
| STAD | TCGA-CG-4300-01 | exon_skip_350004 | 30686807 | 30686938 | 30686829 | 30686829 | Nonsense_Mutation | G | A | p.W423X |
| COAD | TCGA-D5-6540-01 | exon_skip_350004 | 30686807 | 30686938 | 30686919 | 30686919 | Nonsense_Mutation | C | G | p.Y432X |
| BLCA | TCGA-FJ-A3ZE-01 | exon_skip_350000 | 30672194 | 30672346 | 30672193 | 30672193 | Splice_Site | G | C | p.K228_splice |
| - 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 |
| SNUC2A_LARGE_INTESTINE | 30661522 | 30661621 | 30661595 | 30661595 | Frame_Shift_Del | G | - | p.K80fs |
| SNUC2A_LARGE_INTESTINE | 30661519 | 30661621 | 30661595 | 30661595 | Frame_Shift_Del | G | - | p.K80fs |
| NCIH146_LUNG | 30661522 | 30661621 | 30661562 | 30661562 | Missense_Mutation | G | T | p.E69D |
| NCIH146_LUNG | 30661519 | 30661621 | 30661562 | 30661562 | Missense_Mutation | G | T | p.E69D |
| IGROV1_OVARY | 30667577 | 30667680 | 30667614 | 30667614 | Missense_Mutation | C | T | p.R135C |
| EKVX_LUNG | 30667577 | 30667680 | 30667658 | 30667658 | Missense_Mutation | C | G | p.I149M |
| NCIH1436_LUNG | 30672194 | 30672346 | 30672205 | 30672205 | Missense_Mutation | G | C | p.G211R |
| SW684_SOFT_TISSUE | 30672194 | 30672346 | 30672286 | 30672286 | Missense_Mutation | C | T | p.R238W |
| PANC0403_PANCREAS | 30681666 | 30681819 | 30681744 | 30681744 | Missense_Mutation | G | A | p.A370T |
| NUGC3_STOMACH | 30681666 | 30681819 | 30681781 | 30681781 | Missense_Mutation | C | T | p.A382V |
| MM386_SKIN | 30681666 | 30681819 | 30681792 | 30681792 | Missense_Mutation | G | A | p.E386K |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30686807 | 30686938 | 30686825 | 30686825 | Missense_Mutation | A | T | p.K401M |
| SNU175_LARGE_INTESTINE | 30686807 | 30686938 | 30686843 | 30686843 | Missense_Mutation | C | T | p.A407V |
| OCUBM_BREAST | 30686807 | 30686938 | 30686893 | 30686893 | Missense_Mutation | A | G | p.I424V |
| NCIH1573_LUNG | 30686807 | 30686938 | 30686936 | 30686936 | Missense_Mutation | C | A | p.P438Q |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30686807 | 30686938 | 30686808 | 30686808 | Splice_Site | G | A | p.G395G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HCK |
| 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 HCK |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HCK |
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RelatedDrugs for HCK |
| 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 |
| P08631 | DB06616 | Bosutinib | Tyrosine-protein kinase HCK | small molecule | approved | |
| P08631 | DB12010 | Fostamatinib | Tyrosine-protein kinase HCK | small molecule | approved|investigational |
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RelatedDiseases for HCK |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HCK | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| HCK | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
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