|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for HIPK1 |
 Gene summary |
| Gene information | Gene symbol | HIPK1 | Gene ID | 204851 |
| Gene name | homeodomain interacting protein kinase 1 | |
| Synonyms | Myak|Nbak2 | |
| Cytomap | 1p13.2 | |
| Type of gene | protein-coding | |
| Description | homeodomain-interacting protein kinase 1homeodomain interacting protein kinase 1-like proteinnuclear body associated kinase 2bnuclear body-associated kinase 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86Z02 | |
| Context | PubMed: HIPK1 [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 |
| HIPK1 | GO:0010803 | regulation of tumor necrosis factor-mediated signaling pathway | 15701637 |
| HIPK1 | GO:0072577 | endothelial cell apoptotic process | 15701637 |
| HIPK1 | GO:0097191 | extrinsic apoptotic signaling pathway | 15701637 |
Top |
Exon skipping events across known transcript of Ensembl for HIPK1 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. |
 |
Top |
Gene isoform structures and expression levels for HIPK1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for HIPK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9008 | 1 | 114495387:114495511:114497272:114497392:114498184:114498271 | 114497272:114497392 | ENSG00000163349.17 | ENST00000369554.2,ENST00000369558.1,ENST00000369561.4,ENST00000340480.4,ENST00000369559.4,ENST00000369555.2,ENST00000426820.2 |
| exon_skip_9009 | 1 | 114499248:114499433:114499745:114499806:114500687:114500913 | 114499745:114499806 | ENSG00000163349.17 | ENST00000369561.4 |
| exon_skip_9010 | 1 | 114499248:114499433:114499745:114499908:114500687:114500913 | 114499745:114499908 | ENSG00000163349.17 | ENST00000369554.2,ENST00000369558.1,ENST00000369553.1,ENST00000340480.4,ENST00000369559.4,ENST00000406344.1,ENST00000369555.2,ENST00000426820.2 |
| exon_skip_9011 | 1 | 114504938:114505060:114506008:114506143:114508751:114508894 | 114506008:114506143 | ENSG00000163349.17 | ENST00000369558.1,ENST00000369561.4,ENST00000369553.1,ENST00000340480.4,ENST00000369559.4,ENST00000406344.1,ENST00000426820.2 |
| exon_skip_9013 | 1 | 114511063:114511270:114512577:114512819:114514445:114514576 | 114512577:114512819 | ENSG00000163349.17 | ENST00000361587.3,ENST00000369554.2,ENST00000369558.1,ENST00000369561.4,ENST00000369553.1,ENST00000340480.4,ENST00000369559.4,ENST00000406344.1,ENST00000369555.2,ENST00000426820.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for HIPK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9008 | 1 | 114495387:114495511:114497272:114497392:114498184:114498271 | 114497272:114497392 | ENSG00000163349.17 | ENST00000426820.2,ENST00000369559.4,ENST00000369554.2,ENST00000369558.1,ENST00000369561.4,ENST00000369555.2,ENST00000340480.4 |
| exon_skip_9009 | 1 | 114499248:114499433:114499745:114499806:114500687:114500913 | 114499745:114499806 | ENSG00000163349.17 | ENST00000369561.4 |
| exon_skip_9010 | 1 | 114499248:114499433:114499745:114499908:114500687:114500913 | 114499745:114499908 | ENSG00000163349.17 | ENST00000426820.2,ENST00000369559.4,ENST00000369554.2,ENST00000369558.1,ENST00000369555.2,ENST00000340480.4,ENST00000369553.1,ENST00000406344.1 |
| exon_skip_9011 | 1 | 114504938:114505060:114506008:114506143:114508751:114508894 | 114506008:114506143 | ENSG00000163349.17 | ENST00000426820.2,ENST00000369559.4,ENST00000369558.1,ENST00000369561.4,ENST00000340480.4,ENST00000369553.1,ENST00000406344.1 |
| exon_skip_9013 | 1 | 114511063:114511270:114512577:114512819:114514445:114514576 | 114512577:114512819 | ENSG00000163349.17 | ENST00000426820.2,ENST00000369559.4,ENST00000369554.2,ENST00000369558.1,ENST00000369561.4,ENST00000369555.2,ENST00000340480.4,ENST00000369553.1,ENST00000406344.1,ENST00000361587.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HIPK1 |
| 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 |
| ENST00000369558 | 114499745 | 114499908 | Frame-shift |
| ENST00000426820 | 114499745 | 114499908 | Frame-shift |
| ENST00000369558 | 114512577 | 114512819 | Frame-shift |
| ENST00000426820 | 114512577 | 114512819 | Frame-shift |
| ENST00000369558 | 114497272 | 114497392 | In-frame |
| ENST00000426820 | 114497272 | 114497392 | In-frame |
| ENST00000369558 | 114506008 | 114506143 | In-frame |
| ENST00000426820 | 114506008 | 114506143 | 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 |
| ENST00000369558 | 114499745 | 114499908 | Frame-shift |
| ENST00000426820 | 114499745 | 114499908 | Frame-shift |
| ENST00000369558 | 114512577 | 114512819 | Frame-shift |
| ENST00000426820 | 114512577 | 114512819 | Frame-shift |
| ENST00000369558 | 114497272 | 114497392 | In-frame |
| ENST00000426820 | 114497272 | 114497392 | In-frame |
| ENST00000369558 | 114506008 | 114506143 | In-frame |
| ENST00000426820 | 114506008 | 114506143 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HIPK1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000369558 | 8174 | 1210 | 114497272 | 114497392 | 1433 | 1552 | 400 | 440 |
| ENST00000426820 | 4129 | 1210 | 114497272 | 114497392 | 1544 | 1663 | 400 | 440 |
| ENST00000369558 | 8174 | 1210 | 114506008 | 114506143 | 2336 | 2470 | 701 | 746 |
| ENST00000426820 | 4129 | 1210 | 114506008 | 114506143 | 2447 | 2581 | 701 | 746 |
| 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 |
| ENST00000369558 | 8174 | 1210 | 114497272 | 114497392 | 1433 | 1552 | 400 | 440 |
| ENST00000426820 | 4129 | 1210 | 114497272 | 114497392 | 1544 | 1663 | 400 | 440 |
| ENST00000369558 | 8174 | 1210 | 114506008 | 114506143 | 2336 | 2470 | 701 | 746 |
| ENST00000426820 | 4129 | 1210 | 114506008 | 114506143 | 2447 | 2581 | 701 | 746 |
| 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 |
Top |
SNVs in the skipped exons for HIPK1 |
| - 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 |
| STAD | TCGA-CD-A4MG-01 | exon_skip_9008 | 114497273 | 114497392 | 114497345 | 114497345 | Frame_Shift_Del | T | - | p.F425fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_9008 | 114497273 | 114497392 | 114497345 | 114497345 | Frame_Shift_Del | T | - | p.R424fs |
| - 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 |
| DOK_UPPER_AERODIGESTIVE_TRACT | 114499746 | 114499908 | 114499783 | 114499783 | Missense_Mutation | C | T | p.R544W |
| DOK_UPPER_AERODIGESTIVE_TRACT | 114499746 | 114499806 | 114499783 | 114499783 | Missense_Mutation | C | T | p.R544W |
| SNU478_BILIARY_TRACT | 114506009 | 114506143 | 114506128 | 114506128 | Missense_Mutation | G | C | p.Q741H |
| DOV13_OVARY | 114512578 | 114512819 | 114512604 | 114512604 | Missense_Mutation | T | C | p.V933A |
| CW2_LARGE_INTESTINE | 114512578 | 114512819 | 114512606 | 114512606 | Missense_Mutation | A | G | p.I934V |
| IGROV1_OVARY | 114512578 | 114512819 | 114512705 | 114512705 | Missense_Mutation | T | C | p.S967P |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114512578 | 114512819 | 114512762 | 114512762 | Missense_Mutation | A | G | p.I986V |
| SNU668_STOMACH | 114512578 | 114512819 | 114512790 | 114512790 | Missense_Mutation | G | T | p.G995V |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 114512578 | 114512819 | 114512790 | 114512790 | Missense_Mutation | G | A | p.G995D |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HIPK1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIPK1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HIPK1 |
Top |
RelatedDrugs for HIPK1 |
| 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 |
Top |
RelatedDiseases for HIPK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|