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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 ITCH |
 Gene summary |
| Gene information | Gene symbol | ITCH | Gene ID | 83737 |
| Gene name | itchy E3 ubiquitin protein ligase | |
| Synonyms | ADMFD|AIF4|AIP4|NAPP1 | |
| Cytomap | 20q11.22 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase Itchy homologHECT-type E3 ubiquitin transferase Itchy homologNFE2-associated polypeptide 1atrophin-1 interacting protein 4itchy E3 ubiquitin protein ligase homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q96J02 | |
| Context | PubMed: ITCH [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 |
| ITCH | GO:0006511 | ubiquitin-dependent protein catabolic process | 15678106 |
| ITCH | GO:0016567 | protein ubiquitination | 17592138|25631046 |
| ITCH | GO:0035519 | protein K29-linked ubiquitination | 17028573|18628966 |
| ITCH | GO:0070534 | protein K63-linked ubiquitination | 18718448|19592251 |
| ITCH | GO:0070936 | protein K48-linked ubiquitination | 19881509 |
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Exon skipping events across known transcript of Ensembl for ITCH 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 ITCH |
| 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 ITCH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350557 | 20 | 32957199:32957276:32981575:32981687:32996456:32996598 | 32981575:32981687 | ENSG00000078747.8 | ENST00000486883.1 |
| exon_skip_350558 | 20 | 32957199:32957276:32981596:32981687:32996456:32996598 | 32981596:32981687 | ENSG00000078747.8 | ENST00000374864.4,ENST00000262650.6 |
| exon_skip_350560 | 20 | 32981596:32981687:32996456:32996598:33000320:33000445 | 32996456:32996598 | ENSG00000078747.8 | ENST00000374864.4,ENST00000262650.6,ENST00000486883.1 |
| exon_skip_350562 | 20 | 32996456:32996598:33000320:33000445:33001547:33001685 | 33000320:33000445 | ENSG00000078747.8 | ENST00000374864.4,ENST00000262650.6,ENST00000486883.1 |
| exon_skip_350564 | 20 | 33000320:33000445:33001547:33001685:33012285:33012331 | 33001547:33001685 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1 |
| exon_skip_350565 | 20 | 33001547:33001685:33004922:33005045:33012285:33012331 | 33004922:33005045 | ENSG00000078747.8 | ENST00000262650.6 |
| exon_skip_350569 | 20 | 33001547:33001685:33012285:33012331:33026278:33026436 | 33012285:33012331 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1 |
| exon_skip_350570 | 20 | 33027959:33028149:33030012:33030108:33033091:33033266 | 33030012:33030108 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350572 | 20 | 33037215:33037285:33045194:33045279:33049897:33050026 | 33045194:33045279 | ENSG00000078747.8 | ENST00000483727.1,ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350573 | 20 | 33045194:33045279:33049897:33050026:33057852:33057925 | 33049897:33050026 | ENSG00000078747.8 | ENST00000483727.1,ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350574 | 20 | 33049897:33050026:33057852:33057925:33059248:33059320 | 33057852:33057925 | ENSG00000078747.8 | ENST00000483727.1,ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350576 | 20 | 33059305:33059320:33065576:33065665:33067434:33067594 | 33065576:33065665 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350577 | 20 | 33059305:33059320:33065576:33065711:33067434:33067594 | 33065576:33065711 | ENSG00000078747.8 | ENST00000483727.1 |
| exon_skip_350579 | 20 | 33077626:33077731:33080305:33080402:33092135:33092208 | 33080305:33080402 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITCH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350557 | 20 | 32957199:32957276:32981575:32981687:32996456:32996598 | 32981575:32981687 | ENSG00000078747.8 | ENST00000486883.1 |
| exon_skip_350558 | 20 | 32957199:32957276:32981596:32981687:32996456:32996598 | 32981596:32981687 | ENSG00000078747.8 | ENST00000374864.4,ENST00000262650.6 |
| exon_skip_350560 | 20 | 32981596:32981687:32996456:32996598:33000320:33000445 | 32996456:32996598 | ENSG00000078747.8 | ENST00000374864.4,ENST00000486883.1,ENST00000262650.6 |
| exon_skip_350562 | 20 | 32996456:32996598:33000320:33000445:33001547:33001685 | 33000320:33000445 | ENSG00000078747.8 | ENST00000374864.4,ENST00000486883.1,ENST00000262650.6 |
| exon_skip_350564 | 20 | 33000320:33000445:33001547:33001685:33012285:33012331 | 33001547:33001685 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1 |
| exon_skip_350565 | 20 | 33001547:33001685:33004922:33005045:33012285:33012331 | 33004922:33005045 | ENSG00000078747.8 | ENST00000262650.6 |
| exon_skip_350569 | 20 | 33001547:33001685:33012285:33012331:33026278:33026436 | 33012285:33012331 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1 |
| exon_skip_350570 | 20 | 33027959:33028149:33030012:33030108:33033091:33033266 | 33030012:33030108 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350572 | 20 | 33037215:33037285:33045194:33045279:33049897:33050026 | 33045194:33045279 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6,ENST00000483727.1 |
| exon_skip_350573 | 20 | 33045194:33045279:33049897:33050026:33057852:33057925 | 33049897:33050026 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6,ENST00000483727.1 |
| exon_skip_350574 | 20 | 33049897:33050026:33057852:33057925:33059248:33059320 | 33057852:33057925 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6,ENST00000483727.1 |
| exon_skip_350576 | 20 | 33059305:33059320:33065576:33065665:33067434:33067594 | 33065576:33065665 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| exon_skip_350577 | 20 | 33059305:33059320:33065576:33065711:33067434:33067594 | 33065576:33065711 | ENSG00000078747.8 | ENST00000483727.1 |
| exon_skip_350579 | 20 | 33077626:33077731:33080305:33080402:33092135:33092208 | 33080305:33080402 | ENSG00000078747.8 | ENST00000374864.4,ENST00000535650.1,ENST00000262650.6 |
| 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 ITCH |
| 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 |
| ENST00000262650 | 32981596 | 32981687 | 5CDS-5UTR |
| ENST00000262650 | 32996456 | 32996598 | Frame-shift |
| ENST00000262650 | 33000320 | 33000445 | Frame-shift |
| ENST00000262650 | 33045194 | 33045279 | Frame-shift |
| ENST00000262650 | 33057852 | 33057925 | Frame-shift |
| ENST00000262650 | 33065576 | 33065665 | Frame-shift |
| ENST00000262650 | 33080305 | 33080402 | Frame-shift |
| ENST00000262650 | 33004922 | 33005045 | In-frame |
| ENST00000262650 | 33030012 | 33030108 | In-frame |
| ENST00000262650 | 33049897 | 33050026 | 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 |
| ENST00000262650 | 32981596 | 32981687 | 5CDS-5UTR |
| ENST00000262650 | 32996456 | 32996598 | Frame-shift |
| ENST00000262650 | 33000320 | 33000445 | Frame-shift |
| ENST00000262650 | 33045194 | 33045279 | Frame-shift |
| ENST00000262650 | 33057852 | 33057925 | Frame-shift |
| ENST00000262650 | 33065576 | 33065665 | Frame-shift |
| ENST00000262650 | 33080305 | 33080402 | Frame-shift |
| ENST00000262650 | 33004922 | 33005045 | In-frame |
| ENST00000262650 | 33030012 | 33030108 | In-frame |
| ENST00000262650 | 33049897 | 33050026 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITCH |
| 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 |
| ENST00000262650 | 3106 | 903 | 33004922 | 33005045 | 612 | 734 | 158 | 199 |
| ENST00000262650 | 3106 | 903 | 33030012 | 33030108 | 1129 | 1224 | 331 | 362 |
| ENST00000262650 | 3106 | 903 | 33049897 | 33050026 | 1555 | 1683 | 473 | 515 |
| 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 |
| ENST00000262650 | 3106 | 903 | 33004922 | 33005045 | 612 | 734 | 158 | 199 |
| ENST00000262650 | 3106 | 903 | 33030012 | 33030108 | 1129 | 1224 | 331 | 362 |
| ENST00000262650 | 3106 | 903 | 33049897 | 33050026 | 1555 | 1683 | 473 | 515 |
| 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 ITCH |
| - 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-BC-A3KG-01 | exon_skip_350557 exon_skip_350558 | 32981576 | 32981687 | 32981659 | 32981659 | Frame_Shift_Del | C | - | p.L14fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_350557 exon_skip_350558 | 32981597 | 32981687 | 32981659 | 32981659 | Frame_Shift_Del | C | - | p.L14fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_350560 | 32996457 | 32996598 | 32996550 | 32996550 | Frame_Shift_Del | A | - | p.E55fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_350560 | 32996457 | 32996598 | 32996550 | 32996550 | Frame_Shift_Del | A | - | p.E55fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_350560 | 32996457 | 32996598 | 32996550 | 32996550 | Frame_Shift_Del | A | - | p.E55fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_350564 | 33001548 | 33001685 | 33001620 | 33001620 | Frame_Shift_Del | T | - | p.I137fs |
| UCEC | TCGA-AX-A05S-01 | exon_skip_350564 | 33001548 | 33001685 | 33001684 | 33001687 | Frame_Shift_Del | AAGT | - | p.S159fs |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_350574 | 33057853 | 33057925 | 33057885 | 33057897 | Frame_Shift_Del | ACTTCAAAGCAAA | - | p.D527fs |
| BLCA | TCGA-G2-A2ES-01 | exon_skip_350574 | 33057853 | 33057925 | 33057885 | 33057897 | Frame_Shift_Del | ACTTCAAAGCAAA | - | p.DFKAK486fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_350576 | 33065577 | 33065665 | 33065623 | 33065623 | Frame_Shift_Del | T | - | p.I539fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_350577 | 33065577 | 33065711 | 33065623 | 33065623 | Frame_Shift_Del | T | - | p.I539fs |
| LUAD | TCGA-17-Z030-01 | exon_skip_350573 | 33049898 | 33050026 | 33050003 | 33050004 | Frame_Shift_Ins | - | C | p.DP467fs |
| DLBC | TCGA-FA-A86F-01 | exon_skip_350560 | 32996457 | 32996598 | 32996580 | 32996580 | Nonsense_Mutation | G | A | p.W65X |
| BLCA | TCGA-XF-A9T0-01 | exon_skip_350562 | 33000321 | 33000445 | 33000425 | 33000425 | Nonsense_Mutation | T | G | p.L106* |
| ESCA | TCGA-L5-A8NQ-01 | exon_skip_350572 | 33045195 | 33045279 | 33045245 | 33045245 | Nonsense_Mutation | C | T | p.R462X |
| ESCA | TCGA-Q9-A6FU-01 | exon_skip_350573 | 33049898 | 33050026 | 33049899 | 33049899 | Nonsense_Mutation | C | T | p.Q474* |
| ESCA | TCGA-Q9-A6FU-01 | exon_skip_350573 | 33049898 | 33050026 | 33049899 | 33049899 | Nonsense_Mutation | C | T | p.Q474X |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_350579 | 33080306 | 33080402 | 33080315 | 33080315 | Nonsense_Mutation | G | T | p.E777* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_350579 | 33080306 | 33080402 | 33080315 | 33080315 | Nonsense_Mutation | G | T | p.E777* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_350579 | 33080306 | 33080402 | 33080315 | 33080315 | Nonsense_Mutation | G | T | p.E818X |
| UCEC | TCGA-AX-A05S-01 | exon_skip_350564 | 33001548 | 33001685 | 33001684 | 33001687 | Splice_Site | AAGT | - | p.N159_splice |
| PAAD | TCGA-IB-7651-01 | exon_skip_350574 | 33057853 | 33057925 | 33057852 | 33057852 | Splice_Site | G | A | . |
| - 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 |
| HEC6_ENDOMETRIUM | 33001548 | 33001685 | 33001638 | 33001641 | Frame_Shift_Del | AGTT | - | p.QL143fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 33030013 | 33030108 | 33030065 | 33030066 | Frame_Shift_Del | GA | - | p.E349fs |
| SKLU1_LUNG | 33030013 | 33030108 | 33030062 | 33030063 | Frame_Shift_Ins | - | T | p.V348fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 33030013 | 33030108 | 33030071 | 33030072 | Frame_Shift_Ins | - | GC | p.R351fs |
| MM370_SKIN | 32981576 | 32981687 | 32981669 | 32981669 | Missense_Mutation | T | C | p.S18P |
| MM370_SKIN | 32981597 | 32981687 | 32981669 | 32981669 | Missense_Mutation | T | C | p.S18P |
| AGS_STOMACH | 33000321 | 33000445 | 33000337 | 33000337 | Missense_Mutation | A | T | p.S77C |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 33000321 | 33000445 | 33000346 | 33000346 | Missense_Mutation | C | T | p.H80Y |
| SNGM_ENDOMETRIUM | 33000321 | 33000445 | 33000374 | 33000374 | Missense_Mutation | T | C | p.L89P |
| MDST8_LARGE_INTESTINE | 33000321 | 33000445 | 33000394 | 33000394 | Missense_Mutation | G | A | p.G96R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 33000321 | 33000445 | 33000404 | 33000404 | Missense_Mutation | C | G | p.A99G |
| NB69_AUTONOMIC_GANGLIA | 33000321 | 33000445 | 33000431 | 33000431 | Missense_Mutation | C | T | p.S108L |
| NCIH2818_PLEURA | 33001548 | 33001685 | 33001587 | 33001587 | Missense_Mutation | A | G | p.K126R |
| CHLA99_BONE | 33004923 | 33005045 | 33004944 | 33004944 | Missense_Mutation | C | A | p.P166H |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 33012286 | 33012331 | 33012294 | 33012294 | Missense_Mutation | C | G | p.Q203E |
| HEC1A_ENDOMETRIUM | 33030013 | 33030108 | 33030084 | 33030084 | Missense_Mutation | A | T | p.D355V |
| HEC1_ENDOMETRIUM | 33030013 | 33030108 | 33030084 | 33030084 | Missense_Mutation | A | T | p.D355V |
| HEC1B_ENDOMETRIUM | 33030013 | 33030108 | 33030084 | 33030084 | Missense_Mutation | A | T | p.D355V |
| SNUC4_LARGE_INTESTINE | 33030013 | 33030108 | 33030099 | 33030099 | Missense_Mutation | T | A | p.L360Q |
| NB7_AUTONOMIC_GANGLIA | 33045195 | 33045279 | 33045254 | 33045254 | Missense_Mutation | C | G | p.Q465E |
| HS688AT_FIBROBLAST | 33049898 | 33050026 | 33049915 | 33049915 | Missense_Mutation | C | G | p.P479R |
| HT115_LARGE_INTESTINE | 33049898 | 33050026 | 33050008 | 33050008 | Missense_Mutation | G | A | p.R510H |
| NCIH1573_LUNG | 32996457 | 32996598 | 32996538 | 32996538 | Nonsense_Mutation | C | G | p.S51* |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 33057853 | 33057925 | 33057866 | 33057866 | Nonsense_Mutation | C | T | p.Q521* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITCH |
| 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 ITCH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITCH |
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RelatedDrugs for ITCH |
| 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 ITCH |
| 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)
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