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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 HEPH |
 Gene summary |
| Gene information | Gene symbol | HEPH | Gene ID | 9843 |
| Gene name | hephaestin | |
| Synonyms | CPL | |
| Cytomap | Xq12 | |
| Type of gene | protein-coding | |
| Description | hephaestin | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BQS7 | |
| Context | PubMed: HEPH [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 HEPH 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 HEPH |
| 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 HEPH |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510884 | X | 65382432:65382718:65390399:65390579:65392196:65392270 | 65390399:65390579 | ENSG00000089472.12 | ENST00000374727.3 |
| exon_skip_510887 | X | 65384206:65384312:65390399:65390579:65392196:65392270 | 65390399:65390579 | ENSG00000089472.12 | ENST00000441993.2,ENST00000458621.1,ENST00000419594.1 |
| exon_skip_510889 | X | 65390399:65390579:65390968:65391110:65392196:65392270 | 65390968:65391110 | ENSG00000089472.12 | ENST00000429547.1 |
| exon_skip_510891 | X | 65392196:65392441:65393430:65393643:65408200:65408383 | 65393430:65393643 | ENSG00000089472.12 | ENST00000441993.2,ENST00000374727.3,ENST00000419594.1,ENST00000425114.1,ENST00000336279.5,ENST00000519389.1,ENST00000343002.2 |
| exon_skip_510892 | X | 65409525:65409780:65411971:65412140:65413343:65413480 | 65411971:65412140 | ENSG00000089472.12 | ENST00000441993.2,ENST00000374727.3,ENST00000419594.1,ENST00000425114.1,ENST00000336279.5,ENST00000519389.1,ENST00000343002.2 |
| exon_skip_510893 | X | 65418719:65418870:65420381:65420594:65423205:65423419 | 65420381:65420594 | ENSG00000089472.12 | ENST00000441993.2,ENST00000374727.3,ENST00000425114.1,ENST00000336279.5,ENST00000519389.1,ENST00000343002.2 |
| exon_skip_510897 | X | 65423205:65423419:65427036:65427176:65427956:65428088 | 65427036:65427176 | ENSG00000089472.12 | ENST00000441993.2,ENST00000374727.3,ENST00000471121.1,ENST00000419594.1,ENST00000425114.1,ENST00000336279.5,ENST00000519389.1,ENST00000343002.2 |
| exon_skip_510906 | X | 65474876:65474983:65475946:65476172:65478681:65478821 | 65475946:65476172 | ENSG00000089472.12 | ENST00000441993.2,ENST00000374727.3,ENST00000419594.1,ENST00000336279.5,ENST00000519389.1,ENST00000343002.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HEPH |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510884 | X | 65382432:65382718:65390399:65390579:65392196:65392270 | 65390399:65390579 | ENSG00000089472.12 | ENST00000374727.3 |
| exon_skip_510887 | X | 65384206:65384312:65390399:65390579:65392196:65392270 | 65390399:65390579 | ENSG00000089472.12 | ENST00000458621.1,ENST00000441993.2,ENST00000419594.1 |
| exon_skip_510889 | X | 65390399:65390579:65390968:65391110:65392196:65392270 | 65390968:65391110 | ENSG00000089472.12 | ENST00000429547.1 |
| exon_skip_510891 | X | 65392196:65392441:65393430:65393643:65408200:65408383 | 65393430:65393643 | ENSG00000089472.12 | ENST00000519389.1,ENST00000374727.3,ENST00000336279.5,ENST00000441993.2,ENST00000419594.1,ENST00000343002.2,ENST00000425114.1 |
| exon_skip_510892 | X | 65409525:65409780:65411971:65412140:65413343:65413480 | 65411971:65412140 | ENSG00000089472.12 | ENST00000519389.1,ENST00000374727.3,ENST00000336279.5,ENST00000441993.2,ENST00000419594.1,ENST00000343002.2,ENST00000425114.1 |
| exon_skip_510893 | X | 65418719:65418870:65420381:65420594:65423205:65423419 | 65420381:65420594 | ENSG00000089472.12 | ENST00000519389.1,ENST00000374727.3,ENST00000336279.5,ENST00000441993.2,ENST00000343002.2,ENST00000425114.1 |
| exon_skip_510897 | X | 65423205:65423419:65427036:65427176:65427956:65428088 | 65427036:65427176 | ENSG00000089472.12 | ENST00000519389.1,ENST00000374727.3,ENST00000336279.5,ENST00000441993.2,ENST00000419594.1,ENST00000343002.2,ENST00000425114.1,ENST00000471121.1 |
| exon_skip_510906 | X | 65474876:65474983:65475946:65476172:65478681:65478821 | 65475946:65476172 | ENSG00000089472.12 | ENST00000519389.1,ENST00000374727.3,ENST00000336279.5,ENST00000441993.2,ENST00000419594.1,ENST00000343002.2 |
| 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 HEPH |
| 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 |
| ENST00000343002 | 65411971 | 65412140 | Frame-shift |
| ENST00000343002 | 65427036 | 65427176 | Frame-shift |
| ENST00000343002 | 65475946 | 65476172 | Frame-shift |
| ENST00000343002 | 65393430 | 65393643 | In-frame |
| ENST00000343002 | 65420381 | 65420594 | 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 |
| ENST00000343002 | 65411971 | 65412140 | Frame-shift |
| ENST00000343002 | 65427036 | 65427176 | Frame-shift |
| ENST00000343002 | 65475946 | 65476172 | Frame-shift |
| ENST00000343002 | 65393430 | 65393643 | In-frame |
| ENST00000343002 | 65420381 | 65420594 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HEPH |
| 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 |
| ENST00000343002 | 4871 | 1158 | 65393430 | 65393643 | 1077 | 1289 | 137 | 208 |
| ENST00000343002 | 4871 | 1158 | 65420381 | 65420594 | 2529 | 2741 | 621 | 692 |
| 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 |
| ENST00000343002 | 4871 | 1158 | 65393430 | 65393643 | 1077 | 1289 | 137 | 208 |
| ENST00000343002 | 4871 | 1158 | 65420381 | 65420594 | 2529 | 2741 | 621 | 692 |
| 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 |
| Q9BQS7 | 137 | 208 | 1 | 267 | Alternative sequence | ID=VSP_047332;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BQS7 | 137 | 208 | 24 | 1158 | Chain | ID=PRO_0000002915;Note=Hephaestin |
| Q9BQS7 | 137 | 208 | 180 | 206 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 137 | 208 | 24 | 206 | Domain | Note=Plastocyanin-like 1 |
| Q9BQS7 | 137 | 208 | 164 | 164 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 137 | 208 | 186 | 186 | Metal binding | Note=Copper 2%3B type 3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BQS7 | 137 | 208 | 188 | 188 | Metal binding | Note=Copper 3%3B type 3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BQS7 | 137 | 208 | 24 | 1110 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 621 | 692 | 24 | 1158 | Chain | ID=PRO_0000002915;Note=Hephaestin |
| Q9BQS7 | 621 | 692 | 637 | 718 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 621 | 692 | 570 | 718 | Domain | Note=Plastocyanin-like 4 |
| Q9BQS7 | 621 | 692 | 656 | 656 | Metal binding | Note=Copper 5%3B type 1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BQS7 | 621 | 692 | 24 | 1110 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BQS7 | 137 | 208 | 1 | 267 | Alternative sequence | ID=VSP_047332;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9BQS7 | 137 | 208 | 24 | 1158 | Chain | ID=PRO_0000002915;Note=Hephaestin |
| Q9BQS7 | 137 | 208 | 180 | 206 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 137 | 208 | 24 | 206 | Domain | Note=Plastocyanin-like 1 |
| Q9BQS7 | 137 | 208 | 164 | 164 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 137 | 208 | 186 | 186 | Metal binding | Note=Copper 2%3B type 3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BQS7 | 137 | 208 | 188 | 188 | Metal binding | Note=Copper 3%3B type 3;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BQS7 | 137 | 208 | 24 | 1110 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 621 | 692 | 24 | 1158 | Chain | ID=PRO_0000002915;Note=Hephaestin |
| Q9BQS7 | 621 | 692 | 637 | 718 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQS7 | 621 | 692 | 570 | 718 | Domain | Note=Plastocyanin-like 4 |
| Q9BQS7 | 621 | 692 | 656 | 656 | Metal binding | Note=Copper 5%3B type 1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9BQS7 | 621 | 692 | 24 | 1110 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for HEPH |
| - 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. |
HEPH_COAD_exon_skip_510906_psi_boxplot.png |
| - 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-A3CJ-01 | exon_skip_510891 | 65393431 | 65393643 | 65393484 | 65393484 | Frame_Shift_Del | C | - | p.P211fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_510891 | 65393431 | 65393643 | 65393489 | 65393489 | Frame_Shift_Del | G | - | p.P211fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_510891 | 65393431 | 65393643 | 65393637 | 65393637 | Frame_Shift_Del | A | - | p.K261fs |
| ESCA | TCGA-L5-A4OE-01 | exon_skip_510893 | 65420382 | 65420594 | 65420509 | 65420510 | Frame_Shift_Del | TG | - | p.718_718del |
| ESCA | TCGA-L5-A4OE-01 | exon_skip_510893 | 65420382 | 65420594 | 65420509 | 65420510 | Frame_Shift_Del | TG | - | p.TV718fs |
| ESCA | TCGA-L5-A4OE-01 | exon_skip_510893 | 65420382 | 65420594 | 65420509 | 65420510 | Frame_Shift_Del | TG | - | p.V719fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_510891 | 65393431 | 65393643 | 65393488 | 65393489 | Frame_Shift_Ins | - | G | p.P211fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_510891 | 65393431 | 65393643 | 65393488 | 65393489 | Frame_Shift_Ins | - | G | p.R211fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_510891 | 65393431 | 65393643 | 65393488 | 65393489 | Frame_Shift_Ins | - | G | p.S214fs |
| HNSC | TCGA-CQ-5330-01 | exon_skip_510891 | 65393431 | 65393643 | 65393494 | 65393495 | Frame_Shift_Ins | - | C | p.E213fs |
| LIHC | TCGA-CC-A123-01 | exon_skip_510891 | 65393431 | 65393643 | 65393494 | 65393495 | Frame_Shift_Ins | - | C | p.E213fs |
| BLCA | TCGA-FD-A6TC-01 | 65390400 | 65390579 | 65390420 | 65390420 | Nonsense_Mutation | C | A | p.S57* | |
| SKCM | TCGA-GN-A266-06 | 65390400 | 65390579 | 65390523 | 65390523 | Nonsense_Mutation | G | A | p.W40X | |
| SKCM | TCGA-GN-A266-06 | 65390400 | 65390579 | 65390523 | 65390523 | Nonsense_Mutation | G | A | p.W91* | |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_510891 | 65393431 | 65393643 | 65393595 | 65393595 | Nonsense_Mutation | C | T | p.R196* |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_510892 | 65411972 | 65412140 | 65412046 | 65412046 | Nonsense_Mutation | C | T | p.R383X |
| SKCM | TCGA-GF-A6C9-06 | exon_skip_510892 | 65411972 | 65412140 | 65412046 | 65412046 | Nonsense_Mutation | C | T | p.R434* |
| LUAD | TCGA-O1-A52J-01 | exon_skip_510893 | 65420382 | 65420594 | 65420513 | 65420513 | Nonsense_Mutation | C | T | p.Q720* |
| LUSC | TCGA-46-3767-01 | exon_skip_510897 | 65427037 | 65427176 | 65427158 | 65427158 | Nonsense_Mutation | G | T | p.E859* |
| STAD | TCGA-CG-5732-01 | exon_skip_510906 | 65475947 | 65476172 | 65476001 | 65476001 | Nonsense_Mutation | G | T | p.E912* |
| COAD | TCGA-D5-5538-01 | exon_skip_510906 | 65475947 | 65476172 | 65476174 | 65476174 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D5-5538-01 |
| Cancer type: COAD | |
| ESID: exon_skip_510906 | |
| Skipped exon start: 65475947 | |
| Skipped exon end: 65476172 | |
| Mutation start: 65476174 | |
| Mutation end: 65476174 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_510906_COAD_TCGA-D5-5538-01.png | |
| - 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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65393431 | 65393643 | 65393489 | 65393489 | Frame_Shift_Del | G | - | p.P157fs |
| NCIH2066_LUNG | 65393431 | 65393643 | 65393573 | 65393573 | Frame_Shift_Del | C | - | p.Y185fs |
| MCC13_SKIN | 65390400 | 65390579 | 65390438 | 65390438 | Missense_Mutation | C | T | p.A9V |
| LB647SCLC_LUNG | 65390400 | 65390579 | 65390504 | 65390504 | Missense_Mutation | G | T | p.G31V |
| WM793_SKIN | 65393431 | 65393643 | 65393436 | 65393436 | Missense_Mutation | C | A | p.L140I |
| MDST8_LARGE_INTESTINE | 65393431 | 65393643 | 65393541 | 65393541 | Missense_Mutation | G | A | p.D175N |
| SNU175_LARGE_INTESTINE | 65393431 | 65393643 | 65393554 | 65393554 | Missense_Mutation | C | T | p.A179V |
| COLO792_SKIN | 65393431 | 65393643 | 65393611 | 65393611 | Missense_Mutation | G | A | p.G198D |
| RL952_ENDOMETRIUM | 65393431 | 65393643 | 65393619 | 65393619 | Missense_Mutation | G | T | p.G201W |
| LS411N_LARGE_INTESTINE | 65411972 | 65412140 | 65411975 | 65411975 | Missense_Mutation | G | A | p.G356D |
| TTC709_SOFT_TISSUE | 65411972 | 65412140 | 65412038 | 65412038 | Missense_Mutation | G | T | p.G377V |
| SF295_CENTRAL_NERVOUS_SYSTEM | 65411972 | 65412140 | 65412038 | 65412038 | Missense_Mutation | G | T | p.G377V |
| ZR751_BREAST | 65411972 | 65412140 | 65412047 | 65412047 | Missense_Mutation | G | A | p.R380Q |
| YMB1E_BREAST | 65411972 | 65412140 | 65412047 | 65412047 | Missense_Mutation | G | A | p.R380Q |
| AU565_BREAST | 65411972 | 65412140 | 65412092 | 65412092 | Missense_Mutation | C | G | p.P395R |
| SKBR3_BREAST | 65411972 | 65412140 | 65412092 | 65412092 | Missense_Mutation | C | G | p.P395R |
| LB831BLC_URINARY_TRACT | 65411972 | 65412140 | 65412136 | 65412136 | Missense_Mutation | G | A | p.G410S |
| HCC15_LUNG | 65420382 | 65420594 | 65420385 | 65420385 | Missense_Mutation | T | C | p.I623T |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65420382 | 65420594 | 65420393 | 65420393 | Missense_Mutation | T | G | p.F626V |
| LB647SCLC_LUNG | 65420382 | 65420594 | 65420416 | 65420416 | Missense_Mutation | G | C | p.R633S |
| 22RV1_PROSTATE | 65427037 | 65427176 | 65427041 | 65427041 | Missense_Mutation | G | A | p.G766S |
| MEWO_SKIN | 65427037 | 65427176 | 65427101 | 65427101 | Missense_Mutation | T | G | p.F786V |
| NCIH1876_LUNG | 65427037 | 65427176 | 65427116 | 65427116 | Missense_Mutation | G | T | p.D791Y |
| CW2_LARGE_INTESTINE | 65475947 | 65476172 | 65475996 | 65475996 | Missense_Mutation | T | C | p.I907T |
| NCIH2009_LUNG | 65475947 | 65476172 | 65476002 | 65476002 | Missense_Mutation | A | T | p.E909V |
| KYSE270_OESOPHAGUS | 65475947 | 65476172 | 65476004 | 65476005 | Missense_Mutation | CC | TT | p.P910F |
| MM370_SKIN | 65475947 | 65476172 | 65476031 | 65476031 | Missense_Mutation | C | T | p.R919W |
| NCIH1435_LUNG | 65475947 | 65476172 | 65476074 | 65476074 | Missense_Mutation | C | T | p.S933F |
| IGROV1_OVARY | 65475947 | 65476172 | 65476133 | 65476133 | Missense_Mutation | C | A | p.L953I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HEPH |
| 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 HEPH |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEPH |
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RelatedDrugs for HEPH |
| 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 HEPH |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HEPH | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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