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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 ITIH6 |
 Gene summary |
| Gene information | Gene symbol | ITIH6 | Gene ID | 347365 |
| Gene name | inter-alpha-trypsin inhibitor heavy chain family member 6 | |
| Synonyms | ITIH5L|UNQ6369|dJ14O9.1 | |
| Cytomap | Xp11.22 | |
| Type of gene | protein-coding | |
| Description | inter-alpha-trypsin inhibitor heavy chain H6ITI-like proteininter-alpha inhibitor H5-like proteininter-alpha-trypsin inhibitor heavy chain H5-like protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q6UXX5 | |
| Context | PubMed: ITIH6 [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 ITIH6 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 ITIH6 |
| 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 ITIH6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_515179 | X | 54775331:54776539:54777435:54777813:54780083:54780197 | 54777435:54777813 | ENSG00000102313.8 | ENST00000218436.6 |
| exon_skip_515181 | X | 54780083:54780197:54780362:54780398:54781449:54781542 | 54780362:54780398 | ENSG00000102313.8 | ENST00000218436.6 |
| exon_skip_515184 | X | 54781449:54781542:54783397:54785431:54786188:54786360 | 54783397:54785431 | ENSG00000102313.8 | ENST00000218436.6 |
| exon_skip_515185 | X | 54786188:54786360:54800513:54800630:54814912:54815041 | 54800513:54800630 | ENSG00000102313.8 | ENST00000218436.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ITIH6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_515179 | X | 54775331:54776539:54777435:54777813:54780083:54780197 | 54777435:54777813 | ENSG00000102313.8 | ENST00000218436.6 |
| exon_skip_515185 | X | 54786188:54786360:54800513:54800630:54814912:54815041 | 54800513:54800630 | ENSG00000102313.8 | ENST00000218436.6 |
| 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 ITIH6 |
| 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 |
| ENST00000218436 | 54777435 | 54777813 | In-frame |
| ENST00000218436 | 54780362 | 54780398 | In-frame |
| ENST00000218436 | 54783397 | 54785431 | In-frame |
| ENST00000218436 | 54800513 | 54800630 | 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 |
| ENST00000218436 | 54777435 | 54777813 | In-frame |
| ENST00000218436 | 54800513 | 54800630 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ITIH6 |
| 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 |
| ENST00000218436 | 4985 | 1313 | 54800513 | 54800630 | 817 | 933 | 262 | 301 |
| ENST00000218436 | 4985 | 1313 | 54783397 | 54785431 | 1106 | 3139 | 358 | 1036 |
| ENST00000218436 | 4985 | 1313 | 54780362 | 54780398 | 3233 | 3268 | 1067 | 1079 |
| ENST00000218436 | 4985 | 1313 | 54777435 | 54777813 | 3383 | 3760 | 1117 | 1243 |
| 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 |
| ENST00000218436 | 4985 | 1313 | 54800513 | 54800630 | 817 | 933 | 262 | 301 |
| ENST00000218436 | 4985 | 1313 | 54777435 | 54777813 | 3383 | 3760 | 1117 | 1243 |
| 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 |
| Q6UXX5 | 262 | 301 | 24 | 1313 | Chain | ID=PRO_0000285680;Note=Inter-alpha-trypsin inhibitor heavy chain H6 |
| Q6UXX5 | 262 | 301 | 283 | 469 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q6UXX5 | 358 | 1036 | 24 | 1313 | Chain | ID=PRO_0000285680;Note=Inter-alpha-trypsin inhibitor heavy chain H6 |
| Q6UXX5 | 358 | 1036 | 636 | 639 | Compositional bias | Note=Poly-Ser |
| Q6UXX5 | 358 | 1036 | 738 | 994 | Compositional bias | Note=Pro-rich |
| Q6UXX5 | 358 | 1036 | 917 | 920 | Compositional bias | Note=Poly-Thr |
| Q6UXX5 | 358 | 1036 | 999 | 1002 | Compositional bias | Note=Poly-Leu |
| Q6UXX5 | 358 | 1036 | 283 | 469 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q6UXX5 | 358 | 1036 | 374 | 374 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXX5 | 358 | 1036 | 540 | 540 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXX5 | 358 | 1036 | 594 | 594 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXX5 | 358 | 1036 | 971 | 971 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXX5 | 358 | 1036 | 387 | 387 | Natural variant | ID=VAR_032042;Note=G->R;Dbxref=dbSNP:rs34188213 |
| Q6UXX5 | 358 | 1036 | 561 | 561 | Natural variant | ID=VAR_032043;Note=R->C;Dbxref=dbSNP:rs34004499 |
| Q6UXX5 | 1067 | 1079 | 24 | 1313 | Chain | ID=PRO_0000285680;Note=Inter-alpha-trypsin inhibitor heavy chain H6 |
| Q6UXX5 | 1117 | 1243 | 24 | 1313 | Chain | ID=PRO_0000285680;Note=Inter-alpha-trypsin inhibitor heavy chain H6 |
| Q6UXX5 | 1117 | 1243 | 1192 | 1195 | Compositional bias | Note=Poly-Ala |
| Q6UXX5 | 1117 | 1243 | 1231 | 1231 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXX5 | 1117 | 1243 | 1170 | 1170 | Natural variant | ID=VAR_032045;Note=G->A;Dbxref=dbSNP:rs35355718 |
| 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 |
| Q6UXX5 | 262 | 301 | 24 | 1313 | Chain | ID=PRO_0000285680;Note=Inter-alpha-trypsin inhibitor heavy chain H6 |
| Q6UXX5 | 262 | 301 | 283 | 469 | Domain | Note=VWFA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00219 |
| Q6UXX5 | 1117 | 1243 | 24 | 1313 | Chain | ID=PRO_0000285680;Note=Inter-alpha-trypsin inhibitor heavy chain H6 |
| Q6UXX5 | 1117 | 1243 | 1192 | 1195 | Compositional bias | Note=Poly-Ala |
| Q6UXX5 | 1117 | 1243 | 1231 | 1231 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UXX5 | 1117 | 1243 | 1170 | 1170 | Natural variant | ID=VAR_032045;Note=G->A;Dbxref=dbSNP:rs35355718 |
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SNVs in the skipped exons for ITIH6 |
| - 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-G3-A25V-01 | exon_skip_515184 | 54783398 | 54785431 | 54783402 | 54783402 | Frame_Shift_Del | T | - | p.E1035fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_515184 | 54783398 | 54785431 | 54784025 | 54784025 | Frame_Shift_Del | C | - | p.V828fs |
| UCEC | TCGA-BG-A0VZ-01 | exon_skip_515184 | 54783398 | 54785431 | 54784113 | 54784114 | Frame_Shift_Del | TG | - | p.T798fs |
| LUAD | TCGA-97-A4M0-01 | exon_skip_515184 | 54783398 | 54785431 | 54784317 | 54784317 | Frame_Shift_Del | G | - | p.P730fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_515184 | 54783398 | 54785431 | 54784530 | 54784530 | Frame_Shift_Del | G | - | p.P659fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_515185 | 54800514 | 54800630 | 54800588 | 54800588 | Frame_Shift_Del | G | - | p.L277fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_515184 | 54783398 | 54785431 | 54784120 | 54784121 | Frame_Shift_Ins | - | C | p.T796fs |
| LUAD | TCGA-55-8506-01 | exon_skip_515184 | 54783398 | 54785431 | 54783890 | 54783890 | Nonsense_Mutation | T | A | p.K873* |
| LUSC | TCGA-37-3783-01 | exon_skip_515184 | 54783398 | 54785431 | 54784061 | 54784061 | Nonsense_Mutation | G | A | p.Q816* |
| UCEC | TCGA-FI-A2EW-01 | exon_skip_515184 | 54783398 | 54785431 | 54784084 | 54784084 | Nonsense_Mutation | G | T | p.S808* |
| GBM | TCGA-16-1048-01 | exon_skip_515184 | 54783398 | 54785431 | 54784130 | 54784130 | Nonsense_Mutation | G | A | p.Q793* |
| LUAD | TCGA-L9-A444-01 | exon_skip_515184 | 54783398 | 54785431 | 54784414 | 54784414 | Nonsense_Mutation | G | C | p.S698* |
| HNSC | TCGA-DQ-5629-01 | exon_skip_515184 | 54783398 | 54785431 | 54784525 | 54784525 | Nonsense_Mutation | G | C | p.S661* |
| LUAD | TCGA-78-7147-01 | exon_skip_515185 | 54800514 | 54800630 | 54800519 | 54800519 | Nonsense_Mutation | C | A | p.E300* |
| - 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 |
| SJRH30_SOFT_TISSUE | 54783398 | 54785431 | 54785301 | 54785301 | Frame_Shift_Del | G | - | p.A402fs |
| OC316_OVARY | 54783398 | 54785431 | 54783696 | 54783697 | Frame_Shift_Ins | - | G | p.P937fs |
| OC314_OVARY | 54783398 | 54785431 | 54783696 | 54783697 | Frame_Shift_Ins | - | G | p.P937fs |
| SNUC2A_LARGE_INTESTINE | 54777436 | 54777813 | 54777528 | 54777528 | Missense_Mutation | C | T | p.R1213H |
| HS939T_SKIN | 54777436 | 54777813 | 54777576 | 54777576 | Missense_Mutation | A | C | p.L1197R |
| HEC1A_ENDOMETRIUM | 54777436 | 54777813 | 54777583 | 54777583 | Missense_Mutation | C | T | p.A1195T |
| HEC1_ENDOMETRIUM | 54777436 | 54777813 | 54777583 | 54777583 | Missense_Mutation | C | T | p.A1195T |
| PC14_LUNG | 54777436 | 54777813 | 54777598 | 54777598 | Missense_Mutation | A | G | p.Y1190H |
| CW2_LARGE_INTESTINE | 54777436 | 54777813 | 54777700 | 54777700 | Missense_Mutation | T | A | p.T1156S |
| T84_LARGE_INTESTINE | 54777436 | 54777813 | 54777724 | 54777724 | Missense_Mutation | T | A | p.T1148S |
| AM38_CENTRAL_NERVOUS_SYSTEM | 54783398 | 54785431 | 54783520 | 54783520 | Missense_Mutation | G | A | p.A996V |
| GP2D_LARGE_INTESTINE | 54783398 | 54785431 | 54783560 | 54783560 | Missense_Mutation | T | C | p.N983D |
| PA1_OVARY | 54783398 | 54785431 | 54783659 | 54783659 | Missense_Mutation | G | T | p.P950T |
| NCIH1435_LUNG | 54783398 | 54785431 | 54783691 | 54783691 | Missense_Mutation | C | A | p.R939M |
| CAL120_BREAST | 54783398 | 54785431 | 54783710 | 54783710 | Missense_Mutation | G | A | p.P933S |
| HMY1_SKIN | 54783398 | 54785431 | 54783794 | 54783794 | Missense_Mutation | G | C | p.P905A |
| MEWO_SKIN | 54783398 | 54785431 | 54783815 | 54783815 | Missense_Mutation | G | A | p.P898S |
| SISO_CERVIX | 54783398 | 54785431 | 54783874 | 54783874 | Missense_Mutation | T | G | p.N878T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54783398 | 54785431 | 54783874 | 54783874 | Missense_Mutation | T | G | p.N878T |
| HCT15_LARGE_INTESTINE | 54783398 | 54785431 | 54783920 | 54783920 | Missense_Mutation | G | T | p.H863N |
| HRT18_LARGE_INTESTINE | 54783398 | 54785431 | 54783920 | 54783920 | Missense_Mutation | G | T | p.H863N |
| HCC2450_LUNG | 54783398 | 54785431 | 54783925 | 54783925 | Missense_Mutation | G | T | p.P861Q |
| LCLC97TM1_LUNG | 54783398 | 54785431 | 54783982 | 54783982 | Missense_Mutation | G | T | p.P842H |
| HS822T_FIBROBLAST | 54783398 | 54785431 | 54784059 | 54784059 | Missense_Mutation | C | G | p.Q816H |
| RF48_STOMACH | 54783398 | 54785431 | 54784121 | 54784121 | Missense_Mutation | C | G | p.A796P |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54783398 | 54785431 | 54784127 | 54784127 | Missense_Mutation | G | C | p.L794V |
| NCIH835_LUNG | 54783398 | 54785431 | 54784144 | 54784144 | Missense_Mutation | G | A | p.A788V |
| SKMES1_LUNG | 54783398 | 54785431 | 54784148 | 54784148 | Missense_Mutation | C | A | p.G787C |
| NCIH2347_LUNG | 54783398 | 54785431 | 54784191 | 54784191 | Missense_Mutation | T | G | p.K772N |
| NCIH1703_LUNG | 54783398 | 54785431 | 54784195 | 54784195 | Missense_Mutation | G | T | p.P771H |
| NCIH1339_LUNG | 54783398 | 54785431 | 54784210 | 54784210 | Missense_Mutation | C | A | p.G766V |
| PL4_PANCREAS | 54783398 | 54785431 | 54784223 | 54784223 | Missense_Mutation | G | A | p.P762S |
| LN229_CENTRAL_NERVOUS_SYSTEM | 54783398 | 54785431 | 54784229 | 54784229 | Missense_Mutation | C | G | p.V760L |
| CORL24_LUNG | 54783398 | 54785431 | 54784286 | 54784286 | Missense_Mutation | G | T | p.P741T |
| TE441T_SOFT_TISSUE | 54783398 | 54785431 | 54784319 | 54784319 | Missense_Mutation | G | A | p.P730S |
| HKA1_SKIN | 54783398 | 54785431 | 54784373 | 54784373 | Missense_Mutation | C | A | p.D712Y |
| EMCBAC1_LUNG | 54783398 | 54785431 | 54784586 | 54784586 | Missense_Mutation | G | C | p.H641D |
| NCIH64_LUNG | 54783398 | 54785431 | 54784756 | 54784756 | Missense_Mutation | G | A | p.T584I |
| NCIH2126_LUNG | 54783398 | 54785431 | 54784783 | 54784783 | Missense_Mutation | G | T | p.A575E |
| PL4_PANCREAS | 54783398 | 54785431 | 54784815 | 54784815 | Missense_Mutation | C | A | p.W564C |
| CL34_LARGE_INTESTINE | 54783398 | 54785431 | 54784859 | 54784859 | Missense_Mutation | C | A | p.G550W |
| MELJUSO_SKIN | 54783398 | 54785431 | 54784863 | 54784863 | Missense_Mutation | G | C | p.C548W |
| HEC251_ENDOMETRIUM | 54783398 | 54785431 | 54784929 | 54784929 | Missense_Mutation | C | A | p.K526N |
| ESS1_ENDOMETRIUM | 54783398 | 54785431 | 54784946 | 54784946 | Missense_Mutation | C | T | p.A521T |
| NCIH2347_LUNG | 54783398 | 54785431 | 54784948 | 54784948 | Missense_Mutation | A | T | p.L520Q |
| KPNYS_AUTONOMIC_GANGLIA | 54783398 | 54785431 | 54784961 | 54784961 | Missense_Mutation | G | T | p.L516M |
| HCC2450_LUNG | 54783398 | 54785431 | 54785003 | 54785003 | Missense_Mutation | C | T | p.E502K |
| CW2_LARGE_INTESTINE | 54783398 | 54785431 | 54785102 | 54785102 | Missense_Mutation | T | A | p.I469F |
| TE4_OESOPHAGUS | 54783398 | 54785431 | 54785132 | 54785132 | Missense_Mutation | C | A | p.A459S |
| SNU175_LARGE_INTESTINE | 54783398 | 54785431 | 54785192 | 54785192 | Missense_Mutation | G | A | p.R439C |
| JHH5_LIVER | 54783398 | 54785431 | 54785211 | 54785211 | Missense_Mutation | A | C | p.D432E |
| TE14_OESOPHAGUS | 54783398 | 54785431 | 54785211 | 54785211 | Missense_Mutation | A | C | p.D432E |
| HEC6_ENDOMETRIUM | 54783398 | 54785431 | 54785263 | 54785263 | Missense_Mutation | C | T | p.R415H |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54783398 | 54785431 | 54785291 | 54785291 | Missense_Mutation | T | C | p.T406A |
| NCIH1651_LUNG | 54783398 | 54785431 | 54785362 | 54785362 | Missense_Mutation | C | T | p.R382K |
| EN_ENDOMETRIUM | 54800514 | 54800630 | 54800534 | 54800534 | Missense_Mutation | A | G | p.F295L |
| A498_KIDNEY | 54800514 | 54800630 | 54800567 | 54800567 | Missense_Mutation | C | T | p.V284M |
| HCT15_LARGE_INTESTINE | 54800514 | 54800630 | 54800588 | 54800588 | Missense_Mutation | G | T | p.L277I |
| EN_ENDOMETRIUM | 54800514 | 54800630 | 54800617 | 54800617 | Missense_Mutation | T | A | p.Y267F |
| SKMEL1_SKIN | 54800514 | 54800630 | 54800621 | 54800621 | Missense_Mutation | C | T | p.D266N |
| SNU175_LARGE_INTESTINE | 54780363 | 54780398 | 54780397 | 54780397 | Splice_Site | G | A | p.G1068G |
| NCIH1092_LUNG | 54800514 | 54800630 | 54800630 | 54800630 | Splice_Site | T | A | p.I263F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ITIH6 |
| 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 ITIH6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ITIH6 |
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RelatedDrugs for ITIH6 |
| 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 ITIH6 |
| 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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