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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 HACE1 |
 Gene summary |
| Gene information | Gene symbol | HACE1 | Gene ID | 57531 |
| Gene name | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | |
| Synonyms | SPPRS | |
| Cytomap | 6q16.3 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase HACE1HECT-type E3 ubiquitin transferase HACE1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IYU2 | |
| Context | PubMed: HACE1 [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 |
| HACE1 | GO:0006511 | ubiquitin-dependent protein catabolic process | 22036506 |
| HACE1 | GO:0007030 | Golgi organization | 21988917 |
| HACE1 | GO:0016567 | protein ubiquitination | 21988917 |
| HACE1 | GO:0070936 | protein K48-linked ubiquitination | 22036506 |
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Exon skipping events across known transcript of Ensembl for HACE1 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 HACE1 |
| 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 HACE1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_461360 | 6 | 105177192:105177639:105178177:105178291:105192034:105192048 | 105178177:105178291 | ENSG00000085382.7 | ENST00000369127.4,ENST00000416605.2,ENST00000517424.1,ENST00000262903.4,ENST00000518503.1,ENST00000369125.2,ENST00000517995.1,ENST00000518402.1 |
| exon_skip_461363 | 6 | 105178177:105178291:105192034:105192105:105192386:105192485 | 105192034:105192105 | ENSG00000085382.7 | ENST00000369127.4,ENST00000416605.2,ENST00000517424.1,ENST00000262903.4,ENST00000369125.2,ENST00000517995.1,ENST00000518402.1 |
| exon_skip_461366 | 6 | 105192386:105192485:105198215:105198347:105219067:105219264 | 105198215:105198347 | ENSG00000085382.7 | ENST00000369127.4,ENST00000416605.2,ENST00000517424.1,ENST00000262903.4,ENST00000517995.1 |
| exon_skip_461367 | 6 | 105225080:105225192:105228227:105228332:105231960:105231973 | 105228227:105228332 | ENSG00000085382.7 | ENST00000416605.2 |
| exon_skip_461369 | 6 | 105243453:105243560:105244529:105244631:105244803:105244900 | 105244529:105244631 | ENSG00000085382.7 | ENST00000416605.2,ENST00000262903.4,ENST00000369125.2 |
| exon_skip_461372 | 6 | 105244803:105244900:105259185:105259268:105272688:105272782 | 105259185:105259268 | ENSG00000085382.7 | ENST00000416605.2 |
| exon_skip_461373 | 6 | 105244803:105244900:105259185:105259268:105280916:105281048 | 105259185:105259268 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369125.2 |
| exon_skip_461374 | 6 | 105244803:105244900:105259185:105259268:105291097:105291173 | 105259185:105259268 | ENSG00000085382.7 | ENST00000519645.1 |
| exon_skip_461381 | 6 | 105259185:105259268:105272688:105272782:105280916:105281048 | 105272688:105272782 | ENSG00000085382.7 | ENST00000416605.2 |
| exon_skip_461382 | 6 | 105259185:105259268:105280916:105281048:105291097:105291173 | 105280916:105281048 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369125.2 |
| exon_skip_461384 | 6 | 105259185:105259268:105291097:105291173:105297016:105297121 | 105291097:105291173 | ENSG00000085382.7 | ENST00000519645.1 |
| exon_skip_461385 | 6 | 105280934:105281048:105291097:105291173:105297016:105297121 | 105291097:105291173 | ENSG00000085382.7 | ENST00000416605.2,ENST00000262903.4,ENST00000524020.1,ENST00000369125.2 |
| exon_skip_461387 | 6 | 105297016:105297121:105298781:105298871:105300191:105300246 | 105298781:105298871 | ENSG00000085382.7 | ENST00000519645.1,ENST00000416605.2,ENST00000262903.4,ENST00000524020.1,ENST00000369125.2,ENST00000521962.1 |
| exon_skip_461388 | 6 | 105298781:105298871:105300191:105300246:105307441:105307479 | 105300191:105300246 | ENSG00000085382.7 | ENST00000519645.1,ENST00000416605.2,ENST00000369125.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HACE1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_461360 | 6 | 105177192:105177639:105178177:105178291:105192034:105192048 | 105178177:105178291 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369127.4,ENST00000517995.1,ENST00000416605.2,ENST00000369125.2,ENST00000518402.1,ENST00000518503.1,ENST00000517424.1 |
| exon_skip_461363 | 6 | 105178177:105178291:105192034:105192105:105192386:105192485 | 105192034:105192105 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369127.4,ENST00000517995.1,ENST00000416605.2,ENST00000369125.2,ENST00000518402.1,ENST00000517424.1 |
| exon_skip_461366 | 6 | 105192386:105192485:105198215:105198347:105219067:105219264 | 105198215:105198347 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369127.4,ENST00000517995.1,ENST00000416605.2,ENST00000517424.1 |
| exon_skip_461367 | 6 | 105225080:105225192:105228227:105228332:105231960:105231973 | 105228227:105228332 | ENSG00000085382.7 | ENST00000416605.2 |
| exon_skip_461372 | 6 | 105244803:105244900:105259185:105259268:105272688:105272782 | 105259185:105259268 | ENSG00000085382.7 | ENST00000416605.2 |
| exon_skip_461373 | 6 | 105244803:105244900:105259185:105259268:105280916:105281048 | 105259185:105259268 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369125.2 |
| exon_skip_461374 | 6 | 105244803:105244900:105259185:105259268:105291097:105291173 | 105259185:105259268 | ENSG00000085382.7 | ENST00000519645.1 |
| exon_skip_461381 | 6 | 105259185:105259268:105272688:105272782:105280916:105281048 | 105272688:105272782 | ENSG00000085382.7 | ENST00000416605.2 |
| exon_skip_461382 | 6 | 105259185:105259268:105280916:105281048:105291097:105291173 | 105280916:105281048 | ENSG00000085382.7 | ENST00000262903.4,ENST00000369125.2 |
| exon_skip_461384 | 6 | 105259185:105259268:105291097:105291173:105297016:105297121 | 105291097:105291173 | ENSG00000085382.7 | ENST00000519645.1 |
| exon_skip_461385 | 6 | 105280934:105281048:105291097:105291173:105297016:105297121 | 105291097:105291173 | ENSG00000085382.7 | ENST00000262903.4,ENST00000416605.2,ENST00000369125.2,ENST00000524020.1 |
| exon_skip_461387 | 6 | 105297016:105297121:105298781:105298871:105300191:105300246 | 105298781:105298871 | ENSG00000085382.7 | ENST00000262903.4,ENST00000416605.2,ENST00000369125.2,ENST00000519645.1,ENST00000524020.1,ENST00000521962.1 |
| exon_skip_461388 | 6 | 105298781:105298871:105300191:105300246:105307441:105307479 | 105300191:105300246 | ENSG00000085382.7 | ENST00000416605.2,ENST00000369125.2,ENST00000519645.1 |
| exon_skip_461390 | 6 | 105300191:105300246:105306268:105306407:105307253:105307311 | 105306268:105306407 | ENSG00000085382.7 | ENST00000521962.1 |
| exon_skip_461393 | 6 | 105306268:105306407:105307253:105307311:105307441:105307479 | 105307253:105307311 | ENSG00000085382.7 | ENST00000521962.1 |
| 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 HACE1 |
| 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 |
| ENST00000262903 | 105192034 | 105192105 | Frame-shift |
| ENST00000262903 | 105259185 | 105259268 | Frame-shift |
| ENST00000262903 | 105291097 | 105291173 | Frame-shift |
| ENST00000262903 | 105178177 | 105178291 | In-frame |
| ENST00000262903 | 105198215 | 105198347 | In-frame |
| ENST00000262903 | 105244529 | 105244631 | In-frame |
| ENST00000262903 | 105280916 | 105281048 | In-frame |
| ENST00000262903 | 105298781 | 105298871 | 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 |
| ENST00000262903 | 105192034 | 105192105 | Frame-shift |
| ENST00000262903 | 105259185 | 105259268 | Frame-shift |
| ENST00000262903 | 105291097 | 105291173 | Frame-shift |
| ENST00000262903 | 105178177 | 105178291 | In-frame |
| ENST00000262903 | 105198215 | 105198347 | In-frame |
| ENST00000262903 | 105280916 | 105281048 | In-frame |
| ENST00000262903 | 105298781 | 105298871 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HACE1 |
| 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 |
| ENST00000262903 | 4593 | 909 | 105298781 | 105298871 | 409 | 498 | 44 | 73 |
| ENST00000262903 | 4593 | 909 | 105280916 | 105281048 | 680 | 811 | 134 | 178 |
| ENST00000262903 | 4593 | 909 | 105244529 | 105244631 | 992 | 1093 | 238 | 272 |
| ENST00000262903 | 4593 | 909 | 105198215 | 105198347 | 2489 | 2620 | 737 | 781 |
| ENST00000262903 | 4593 | 909 | 105178177 | 105178291 | 2791 | 2904 | 838 | 875 |
| 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 |
| ENST00000262903 | 4593 | 909 | 105298781 | 105298871 | 409 | 498 | 44 | 73 |
| ENST00000262903 | 4593 | 909 | 105280916 | 105281048 | 680 | 811 | 134 | 178 |
| ENST00000262903 | 4593 | 909 | 105198215 | 105198347 | 2489 | 2620 | 737 | 781 |
| ENST00000262903 | 4593 | 909 | 105178177 | 105178291 | 2791 | 2904 | 838 | 875 |
| 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 HACE1 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_461366 | 105198216 | 105198347 | 105198231 | 105198231 | Frame_Shift_Del | A | - | p.F776fs |
| COAD | TCGA-CM-6674-01 | exon_skip_461366 | 105198216 | 105198347 | 105198277 | 105198277 | Frame_Shift_Del | A | - | p.L761fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_461366 | 105198216 | 105198347 | 105198277 | 105198277 | Frame_Shift_Del | A | - | p.L761fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_461382 | 105280917 | 105281048 | 105280959 | 105280959 | Frame_Shift_Del | C | - | p.G164fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_461387 | 105298782 | 105298871 | 105298848 | 105298848 | Frame_Shift_Del | T | - | p.N52fs |
| STAD | TCGA-IN-A6RO-01 | exon_skip_461366 | 105198216 | 105198347 | 105198276 | 105198277 | Frame_Shift_Ins | - | A | p.S761fs |
| LUAD | TCGA-17-Z014-01 | exon_skip_461363 | 105192035 | 105192105 | 105192075 | 105192075 | Nonsense_Mutation | G | A | p.Q825* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_461366 | 105198216 | 105198347 | 105198317 | 105198317 | Nonsense_Mutation | G | A | p.R748* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_461366 | 105198216 | 105198347 | 105198317 | 105198317 | Nonsense_Mutation | G | A | p.R748X |
| LUAD | TCGA-44-A47A-01 | exon_skip_461382 | 105280917 | 105281048 | 105280922 | 105280922 | Nonsense_Mutation | T | A | p.K177* |
| BLCA | TCGA-SY-A9G5-01 | exon_skip_461387 | 105298782 | 105298871 | 105298851 | 105298851 | Nonsense_Mutation | G | C | p.S51* |
| - 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 |
| HS600T_FIBROBLAST | 105300192 | 105300246 | 105300199 | 105300199 | Frame_Shift_Del | G | - | p.Q42fs |
| SNU1_STOMACH | 105198216 | 105198347 | 105198276 | 105198277 | Frame_Shift_Ins | - | A | p.L761fs |
| SNU503_LARGE_INTESTINE | 105178178 | 105178291 | 105178182 | 105178182 | Missense_Mutation | T | A | p.T875S |
| CW2_LARGE_INTESTINE | 105178178 | 105178291 | 105178215 | 105178215 | Missense_Mutation | G | A | p.P864S |
| STM9101_SOFT_TISSUE | 105178178 | 105178291 | 105178284 | 105178284 | Missense_Mutation | C | A | p.V841F |
| BFTC905_URINARY_TRACT | 105244530 | 105244631 | 105244598 | 105244598 | Missense_Mutation | G | C | p.Q250E |
| NCIH2141_LUNG | 105244530 | 105244631 | 105244607 | 105244607 | Missense_Mutation | C | A | p.V247L |
| NCIH2066_LUNG | 105244530 | 105244631 | 105244608 | 105244608 | Missense_Mutation | T | A | p.E246D |
| JHOS4_OVARY | 105280917 | 105281048 | 105280973 | 105280973 | Missense_Mutation | C | G | p.E160Q |
| NCIH630_LARGE_INTESTINE | 105280917 | 105281048 | 105280981 | 105280981 | Missense_Mutation | A | T | p.V157D |
| HCT15_LARGE_INTESTINE | 105280917 | 105281048 | 105280990 | 105280990 | Missense_Mutation | A | T | p.V154D |
| CA922_UPPER_AERODIGESTIVE_TRACT | 105298782 | 105298871 | 105298863 | 105298863 | Missense_Mutation | G | T | p.S47Y |
| LIM1215_LARGE_INTESTINE | 105198216 | 105198347 | 105198346 | 105198346 | Splice_Site | G | A | p.A738V |
| 253J_URINARY_TRACT | 105298782 | 105298871 | 105298782 | 105298782 | Splice_Site | T | A | p.N74I |
| 253JBV_URINARY_TRACT | 105298782 | 105298871 | 105298782 | 105298782 | Splice_Site | T | A | p.N74I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HACE1 |
| 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 HACE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HACE1 |
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RelatedDrugs for HACE1 |
| 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 HACE1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HACE1 | C0027819 | Neuroblastoma | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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