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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 ITIH5 |
 Gene summary |
| Gene information | Gene symbol | ITIH5 | Gene ID | 80760 |
| Gene name | inter-alpha-trypsin inhibitor heavy chain family member 5 | |
| Synonyms | ITI-HC5|PP14776 | |
| Cytomap | 10p14 | |
| Type of gene | protein-coding | |
| Description | inter-alpha-trypsin inhibitor heavy chain H5ITI heavy chain H5inter-alpha (globulin) inhibitor H5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86UX2 | |
| Context | PubMed: ITIH5 [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 |
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Exon skipping events across known transcript of Ensembl for ITIH5 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 ITIH5 |
| 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 ITIH5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47650 | 10 | 7605078:7605347:7607992:7608370:7611630:7611747 | 7607992:7608370 | ENSG00000123243.10 | ENST00000446830.2,ENST00000298441.6,ENST00000256861.6 |
| exon_skip_47651 | 10 | 7608220:7608370:7611630:7611747:7615104:7615158 | 7611630:7611747 | ENSG00000123243.10 | ENST00000446830.2,ENST00000298441.6,ENST00000256861.6 |
| exon_skip_47653 | 10 | 7611630:7611747:7615104:7615158:7618415:7618560 | 7615104:7615158 | ENSG00000123243.10 | ENST00000446830.2,ENST00000298441.6,ENST00000256861.6,ENST00000492668.1 |
| exon_skip_47655 | 10 | 7618854:7618975:7621717:7622027:7627863:7628032 | 7621717:7622027 | ENSG00000123243.10 | ENST00000434980.1,ENST00000446830.2,ENST00000397146.2,ENST00000476417.1,ENST00000397145.2,ENST00000298441.6,ENST00000256861.6,ENST00000461751.1 |
| exon_skip_47659 | 10 | 7627863:7628032:7642491:7642528:7651382:7651457 | 7642491:7642528 | ENSG00000123243.10 | ENST00000461751.1 |
| exon_skip_47663 | 10 | 7642491:7642528:7651382:7651457:7657944:7658061 | 7651382:7651457 | ENSG00000123243.10 | ENST00000461751.1 |
| exon_skip_47664 | 10 | 7683889:7684053:7697593:7697638:7708765:7708934 | 7697593:7697638 | ENSG00000123243.10 | ENST00000446830.2,ENST00000397146.2,ENST00000397145.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITIH5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_47650 | 10 | 7605078:7605347:7607992:7608370:7611630:7611747 | 7607992:7608370 | ENSG00000123243.10 | ENST00000256861.6,ENST00000298441.6,ENST00000446830.2 |
| exon_skip_47651 | 10 | 7608220:7608370:7611630:7611747:7615104:7615158 | 7611630:7611747 | ENSG00000123243.10 | ENST00000256861.6,ENST00000298441.6,ENST00000446830.2 |
| exon_skip_47653 | 10 | 7611630:7611747:7615104:7615158:7618415:7618560 | 7615104:7615158 | ENSG00000123243.10 | ENST00000256861.6,ENST00000298441.6,ENST00000446830.2,ENST00000492668.1 |
| exon_skip_47655 | 10 | 7618854:7618975:7621717:7622027:7627863:7628032 | 7621717:7622027 | ENSG00000123243.10 | ENST00000256861.6,ENST00000397146.2,ENST00000298441.6,ENST00000446830.2,ENST00000434980.1,ENST00000397145.2,ENST00000476417.1,ENST00000461751.1 |
| exon_skip_47659 | 10 | 7627863:7628032:7642491:7642528:7651382:7651457 | 7642491:7642528 | ENSG00000123243.10 | ENST00000461751.1 |
| exon_skip_47663 | 10 | 7642491:7642528:7651382:7651457:7657944:7658061 | 7651382:7651457 | ENSG00000123243.10 | ENST00000461751.1 |
| exon_skip_47664 | 10 | 7683889:7684053:7697593:7697638:7708765:7708934 | 7697593:7697638 | ENSG00000123243.10 | ENST00000397146.2,ENST00000446830.2,ENST00000397145.2 |
| 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 ITIH5 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ITIH5 |
| 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 |
| 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 |
| 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 ITIH5 |
| - 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-A1EG-01 | exon_skip_47650 | 7607993 | 7608370 | 7608076 | 7608076 | Frame_Shift_Del | T | - | p.K815fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_47650 | 7607993 | 7608370 | 7608076 | 7608076 | Frame_Shift_Del | T | - | p.K815fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_47650 | 7607993 | 7608370 | 7608076 | 7608076 | Frame_Shift_Del | T | - | p.K815fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_47651 | 7611631 | 7611747 | 7611667 | 7611667 | Frame_Shift_Del | C | - | p.D705fs |
| BLCA | TCGA-E7-A7XN-01 | exon_skip_47655 | 7621718 | 7622027 | 7621728 | 7621728 | Nonsense_Mutation | G | A | p.Q470* |
| COAD | TCGA-AD-6901-01 | exon_skip_47655 | 7621718 | 7622027 | 7621866 | 7621866 | Nonsense_Mutation | G | A | p.R424X |
| LUAD | TCGA-78-7535-01 | exon_skip_47651 | 7611631 | 7611747 | 7611748 | 7611748 | Splice_Site | C | T | p.V678_splice |
| ESCA | TCGA-L5-A43I-01 | exon_skip_47655 | 7621718 | 7622027 | 7621717 | 7621717 | Splice_Site | C | A | . |
| ESCA | TCGA-L5-A43I-01 | exon_skip_47655 | 7621718 | 7622027 | 7621717 | 7621717 | Splice_Site | C | A | e9+1 |
| - 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 |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7607993 | 7608370 | 7608002 | 7608002 | Missense_Mutation | C | T | p.G840R |
| HEC1A_ENDOMETRIUM | 7607993 | 7608370 | 7608027 | 7608027 | Missense_Mutation | G | T | p.S831R |
| NCIH2347_LUNG | 7607993 | 7608370 | 7608047 | 7608048 | Missense_Mutation | CC | AA | p.G825C |
| MELJUSO_SKIN | 7607993 | 7608370 | 7608158 | 7608158 | Missense_Mutation | C | A | p.V788L |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 7607993 | 7608370 | 7608215 | 7608215 | Missense_Mutation | C | A | p.D769Y |
| UMUC14_URINARY_TRACT | 7607993 | 7608370 | 7608295 | 7608295 | Missense_Mutation | C | T | p.R742H |
| HCT116_LARGE_INTESTINE | 7607993 | 7608370 | 7608295 | 7608295 | Missense_Mutation | C | T | p.R742H |
| MDAMB468_BREAST | 7607993 | 7608370 | 7608325 | 7608325 | Missense_Mutation | T | C | p.N732S |
| SNU1040_LARGE_INTESTINE | 7607993 | 7608370 | 7608335 | 7608335 | Missense_Mutation | C | T | p.A729T |
| COLO783_SKIN | 7607993 | 7608370 | 7608353 | 7608353 | Missense_Mutation | C | T | p.E723K |
| LOVO_LARGE_INTESTINE | 7607993 | 7608370 | 7608356 | 7608356 | Missense_Mutation | C | T | p.G722R |
| NCIH1838_LUNG | 7611631 | 7611747 | 7611646 | 7611646 | Missense_Mutation | C | G | p.D712H |
| HEC108_ENDOMETRIUM | 7621718 | 7622027 | 7621749 | 7621749 | Missense_Mutation | C | T | p.E463K |
| MDAMB436_BREAST | 7621718 | 7622027 | 7621749 | 7621749 | Missense_Mutation | C | T | p.E463K |
| SCLC22H_LUNG | 7621718 | 7622027 | 7621758 | 7621758 | Missense_Mutation | G | T | p.R460S |
| SCLC21H_LUNG | 7621718 | 7622027 | 7621758 | 7621758 | Missense_Mutation | G | T | p.R460S |
| SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7621718 | 7622027 | 7621792 | 7621792 | Missense_Mutation | C | A | p.E448D |
| RKO_LARGE_INTESTINE | 7621718 | 7622027 | 7621796 | 7621796 | Missense_Mutation | A | G | p.L447P |
| SNU175_LARGE_INTESTINE | 7621718 | 7622027 | 7621803 | 7621803 | Missense_Mutation | T | C | p.R445G |
| HEC265_ENDOMETRIUM | 7621718 | 7622027 | 7621815 | 7621815 | Missense_Mutation | C | T | p.D441N |
| OC316_OVARY | 7621718 | 7622027 | 7621820 | 7621820 | Missense_Mutation | C | T | p.G439D |
| OC314_OVARY | 7621718 | 7622027 | 7621820 | 7621820 | Missense_Mutation | C | T | p.G439D |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7621718 | 7622027 | 7621841 | 7621841 | Missense_Mutation | C | T | p.C432Y |
| HEC59_ENDOMETRIUM | 7621718 | 7622027 | 7621865 | 7621865 | Missense_Mutation | C | T | p.R424Q |
| MRKNU1_BREAST | 7621718 | 7622027 | 7621865 | 7621865 | Missense_Mutation | C | T | p.R424Q |
| CW2_LARGE_INTESTINE | 7621718 | 7622027 | 7621944 | 7621944 | Missense_Mutation | C | T | p.V398M |
| EVSAT_BREAST | 7621718 | 7622027 | 7621993 | 7621993 | Missense_Mutation | G | C | p.I381M |
| NCIH1993_LUNG | 7621718 | 7622027 | 7622020 | 7622020 | Missense_Mutation | G | T | p.D372E |
| NCIH2073_LUNG | 7621718 | 7622027 | 7622020 | 7622020 | Missense_Mutation | G | T | p.D372E |
| C33A_CERVIX | 7621718 | 7622027 | 7621866 | 7621866 | Nonsense_Mutation | G | A | p.R424* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITIH5 |
| 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 ITIH5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITIH5 |
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RelatedDrugs for ITIH5 |
| 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 ITIH5 |
| 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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