|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for HERC6 |
 Gene summary |
| Gene information | Gene symbol | HERC6 | Gene ID | 55008 |
| Gene name | HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 | |
| Synonyms | - | |
| Cytomap | 4q22.1 | |
| Type of gene | protein-coding | |
| Description | probable E3 ubiquitin-protein ligase HERC6HECT domain and RCC1-like domain-containing protein 6HECT-type E3 ubiquitin transferase HERC6hect domain and RLD 6potential ubiquitin ligase | |
| Modification date | 20180522 | |
| UniProtAcc | Q8IVU3 | |
| Context | PubMed: HERC6 [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 |
Top |
Exon skipping events across known transcript of Ensembl for HERC6 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. |
 |
Top |
Gene isoform structures and expression levels for HERC6 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for HERC6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424962 | 4 | 89300215:89300272:89304336:89304532:89306650:89306727 | 89304336:89304532 | ENSG00000138642.10 | ENST00000502870.1 |
| exon_skip_424964 | 4 | 89300215:89300272:89304372:89304532:89306650:89306727 | 89304372:89304532 | ENSG00000138642.10 | ENST00000264346.7,ENST00000273960.3,ENST00000506714.1 |
| exon_skip_424966 | 4 | 89300215:89300272:89304383:89304532:89306650:89306727 | 89304383:89304532 | ENSG00000138642.10 | ENST00000504905.1 |
| exon_skip_424970 | 4 | 89304383:89304532:89306650:89306727:89311803:89311884 | 89306650:89306727 | ENSG00000138642.10 | ENST00000502870.1,ENST00000264346.7,ENST00000504905.1,ENST00000273960.3,ENST00000380265.5,ENST00000506714.1 |
| exon_skip_424971 | 4 | 89306650:89306727:89311803:89312031:89314639:89314734 | 89311803:89312031 | ENSG00000138642.10 | ENST00000264346.7,ENST00000273960.3,ENST00000380265.5,ENST00000506714.1 |
| exon_skip_424974 | 4 | 89311971:89312031:89314639:89314734:89317166:89317294 | 89314639:89314734 | ENSG00000138642.10 | ENST00000264346.7,ENST00000515365.1,ENST00000273960.3,ENST00000380265.5,ENST00000506714.1 |
| exon_skip_424976 | 4 | 89317166:89317294:89318002:89318139:89319293:89319361 | 89318002:89318139 | ENSG00000138642.10 | ENST00000264346.7,ENST00000515365.1,ENST00000380265.5 |
| exon_skip_424981 | 4 | 89319293:89319361:89326027:89326149:89326705:89326765 | 89326027:89326149 | ENSG00000138642.10 | ENST00000264346.7,ENST00000380265.5 |
| exon_skip_424984 | 4 | 89326705:89326765:89329675:89329769:89334228:89334418 | 89329675:89329769 | ENSG00000138642.10 | ENST00000264346.7,ENST00000380265.5 |
| exon_skip_424987 | 4 | 89334228:89334418:89338576:89338731:89345011:89345125 | 89338576:89338731 | ENSG00000138642.10 | ENST00000264346.7,ENST00000380265.5 |
| exon_skip_424990 | 4 | 89338576:89338731:89345011:89345125:89345746:89345854 | 89345011:89345125 | ENSG00000138642.10 | ENST00000264346.7 |
| exon_skip_424991 | 4 | 89338576:89338731:89345011:89345125:89349731:89349902 | 89345011:89345125 | ENSG00000138642.10 | ENST00000380265.5 |
| exon_skip_424995 | 4 | 89345011:89345125:89345746:89345854:89349731:89349893 | 89345746:89345854 | ENSG00000138642.10 | ENST00000264346.7 |
| exon_skip_424997 | 4 | 89345746:89345854:89349731:89349902:89352313:89352457 | 89349731:89349902 | ENSG00000138642.10 | ENST00000264346.7 |
| exon_skip_424998 | 4 | 89361025:89361209:89361299:89361402:89363385:89364249 | 89361299:89361402 | ENSG00000138642.10 | ENST00000264346.7,ENST00000380265.5 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for HERC6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_424962 | 4 | 89300215:89300272:89304336:89304532:89306650:89306727 | 89304336:89304532 | ENSG00000138642.10 | ENST00000502870.1 |
| exon_skip_424964 | 4 | 89300215:89300272:89304372:89304532:89306650:89306727 | 89304372:89304532 | ENSG00000138642.10 | ENST00000273960.3,ENST00000264346.7,ENST00000506714.1 |
| exon_skip_424966 | 4 | 89300215:89300272:89304383:89304532:89306650:89306727 | 89304383:89304532 | ENSG00000138642.10 | ENST00000504905.1 |
| exon_skip_424971 | 4 | 89306650:89306727:89311803:89312031:89314639:89314734 | 89311803:89312031 | ENSG00000138642.10 | ENST00000380265.5,ENST00000273960.3,ENST00000264346.7,ENST00000506714.1 |
| exon_skip_424974 | 4 | 89311971:89312031:89314639:89314734:89317166:89317294 | 89314639:89314734 | ENSG00000138642.10 | ENST00000380265.5,ENST00000273960.3,ENST00000264346.7,ENST00000506714.1,ENST00000515365.1 |
| exon_skip_424976 | 4 | 89317166:89317294:89318002:89318139:89319293:89319361 | 89318002:89318139 | ENSG00000138642.10 | ENST00000380265.5,ENST00000264346.7,ENST00000515365.1 |
| exon_skip_424981 | 4 | 89319293:89319361:89326027:89326149:89326705:89326765 | 89326027:89326149 | ENSG00000138642.10 | ENST00000380265.5,ENST00000264346.7 |
| exon_skip_424984 | 4 | 89326705:89326765:89329675:89329769:89334228:89334418 | 89329675:89329769 | ENSG00000138642.10 | ENST00000380265.5,ENST00000264346.7 |
| exon_skip_424987 | 4 | 89334228:89334418:89338576:89338731:89345011:89345125 | 89338576:89338731 | ENSG00000138642.10 | ENST00000380265.5,ENST00000264346.7 |
| exon_skip_424990 | 4 | 89338576:89338731:89345011:89345125:89345746:89345854 | 89345011:89345125 | ENSG00000138642.10 | ENST00000264346.7 |
| exon_skip_424991 | 4 | 89338576:89338731:89345011:89345125:89349731:89349902 | 89345011:89345125 | ENSG00000138642.10 | ENST00000380265.5 |
| exon_skip_424995 | 4 | 89345011:89345125:89345746:89345854:89349731:89349893 | 89345746:89345854 | ENSG00000138642.10 | ENST00000264346.7 |
| exon_skip_424997 | 4 | 89345746:89345854:89349731:89349902:89352313:89352457 | 89349731:89349902 | ENSG00000138642.10 | ENST00000264346.7 |
| exon_skip_424998 | 4 | 89361025:89361209:89361299:89361402:89363385:89364249 | 89361299:89361402 | ENSG00000138642.10 | ENST00000380265.5,ENST00000264346.7 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HERC6 |
| 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 |
| ENST00000264346 | 89304372 | 89304532 | Frame-shift |
| ENST00000264346 | 89306650 | 89306727 | Frame-shift |
| ENST00000264346 | 89314639 | 89314734 | Frame-shift |
| ENST00000264346 | 89318002 | 89318139 | Frame-shift |
| ENST00000264346 | 89326027 | 89326149 | Frame-shift |
| ENST00000264346 | 89329675 | 89329769 | Frame-shift |
| ENST00000264346 | 89338576 | 89338731 | Frame-shift |
| ENST00000264346 | 89361299 | 89361402 | Frame-shift |
| ENST00000264346 | 89311803 | 89312031 | In-frame |
| ENST00000264346 | 89345011 | 89345125 | In-frame |
| ENST00000264346 | 89345746 | 89345854 | In-frame |
| ENST00000264346 | 89349731 | 89349902 | 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 |
| ENST00000264346 | 89304372 | 89304532 | Frame-shift |
| ENST00000264346 | 89314639 | 89314734 | Frame-shift |
| ENST00000264346 | 89318002 | 89318139 | Frame-shift |
| ENST00000264346 | 89326027 | 89326149 | Frame-shift |
| ENST00000264346 | 89329675 | 89329769 | Frame-shift |
| ENST00000264346 | 89338576 | 89338731 | Frame-shift |
| ENST00000264346 | 89361299 | 89361402 | Frame-shift |
| ENST00000264346 | 89311803 | 89312031 | In-frame |
| ENST00000264346 | 89345011 | 89345125 | In-frame |
| ENST00000264346 | 89345746 | 89345854 | In-frame |
| ENST00000264346 | 89349731 | 89349902 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HERC6 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000264346 | 3796 | 1022 | 89311803 | 89312031 | 496 | 723 | 145 | 221 |
| ENST00000264346 | 3796 | 1022 | 89345011 | 89345125 | 1773 | 1886 | 571 | 609 |
| ENST00000264346 | 3796 | 1022 | 89345746 | 89345854 | 1887 | 1994 | 609 | 645 |
| ENST00000264346 | 3796 | 1022 | 89349731 | 89349902 | 1995 | 2165 | 645 | 702 |
| 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 |
| ENST00000264346 | 3796 | 1022 | 89311803 | 89312031 | 496 | 723 | 145 | 221 |
| ENST00000264346 | 3796 | 1022 | 89345011 | 89345125 | 1773 | 1886 | 571 | 609 |
| ENST00000264346 | 3796 | 1022 | 89345746 | 89345854 | 1887 | 1994 | 609 | 645 |
| ENST00000264346 | 3796 | 1022 | 89349731 | 89349902 | 1995 | 2165 | 645 | 702 |
| 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 |
Top |
SNVs in the skipped exons for HERC6 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-A3A0-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304337 | 89304532 | 89304499 | 89304499 | Frame_Shift_Del | T | - | p.I109fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304373 | 89304532 | 89304499 | 89304499 | Frame_Shift_Del | T | - | p.I109fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304384 | 89304532 | 89304499 | 89304499 | Frame_Shift_Del | T | - | p.I109fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304337 | 89304532 | 89304507 | 89304507 | Frame_Shift_Del | T | - | p.F112fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304373 | 89304532 | 89304507 | 89304507 | Frame_Shift_Del | T | - | p.F112fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304384 | 89304532 | 89304507 | 89304507 | Frame_Shift_Del | T | - | p.F112fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424970 | 89306651 | 89306727 | 89306675 | 89306675 | Frame_Shift_Del | A | - | p.I128fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_424971 | 89311804 | 89312031 | 89311981 | 89311981 | Frame_Shift_Del | G | - | p.W205fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_424981 | 89326028 | 89326149 | 89326098 | 89326098 | Frame_Shift_Del | A | - | p.E388fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424981 | 89326028 | 89326149 | 89326115 | 89326115 | Frame_Shift_Del | A | - | p.K394fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424981 | 89326028 | 89326149 | 89326115 | 89326115 | Frame_Shift_Del | A | - | p.V393fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424991 exon_skip_424990 | 89345012 | 89345125 | 89345040 | 89345040 | Frame_Shift_Del | A | - | p.E581fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424991 exon_skip_424990 | 89345012 | 89345125 | 89345040 | 89345040 | Frame_Shift_Del | A | - | p.E581fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_424995 | 89345747 | 89345854 | 89345760 | 89345760 | Frame_Shift_Del | C | - | p.T614fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_424997 | 89349732 | 89349902 | 89349778 | 89349778 | Frame_Shift_Del | A | - | p.Q625fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_424997 | 89349732 | 89349902 | 89349778 | 89349778 | Frame_Shift_Del | A | - | p.Q625fs |
| LIHC | TCGA-DD-A3A0-01 | 89361300 | 89361402 | 89361351 | 89361351 | Frame_Shift_Del | T | - | p.F895fs | |
| LIHC | TCGA-DD-A1EG-01 | 89361300 | 89361402 | 89361390 | 89361390 | Frame_Shift_Del | A | - | p.K909fs | |
| ACC | TCGA-OR-A5LB-01 | exon_skip_424971 | 89311804 | 89312031 | 89311864 | 89311865 | Frame_Shift_Ins | - | C | p.F166fs |
| ACC | TCGA-OR-A5LB-01 | exon_skip_424971 | 89311804 | 89312031 | 89311864 | 89311865 | Frame_Shift_Ins | - | C | p.S166fs |
| KIRC | TCGA-CZ-5470-01 | exon_skip_424981 | 89326028 | 89326149 | 89326058 | 89326059 | Frame_Shift_Ins | - | C | p.T375fs |
| KIRC | TCGA-DV-5569-01 | exon_skip_424981 | 89326028 | 89326149 | 89326058 | 89326059 | Frame_Shift_Ins | - | C | p.T375fs |
| TGCT | TCGA-S6-A8JW-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304337 | 89304532 | 89304513 | 89304513 | Nonsense_Mutation | G | T | p.E114X |
| TGCT | TCGA-S6-A8JW-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304373 | 89304532 | 89304513 | 89304513 | Nonsense_Mutation | G | T | p.E114X |
| TGCT | TCGA-S6-A8JW-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304384 | 89304532 | 89304513 | 89304513 | Nonsense_Mutation | G | T | p.E114X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304337 | 89304532 | 89304513 | 89304513 | Nonsense_Mutation | G | T | p.E114* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304373 | 89304532 | 89304513 | 89304513 | Nonsense_Mutation | G | T | p.E114* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_424964 exon_skip_424966 exon_skip_424962 | 89304384 | 89304532 | 89304513 | 89304513 | Nonsense_Mutation | G | T | p.E114* |
| COAD | TCGA-CA-6718-01 | exon_skip_424971 | 89311804 | 89312031 | 89311819 | 89311819 | Nonsense_Mutation | C | A | p.S151X |
| BLCA | TCGA-FD-A5C1-01 | exon_skip_424971 | 89311804 | 89312031 | 89311972 | 89311972 | Nonsense_Mutation | C | A | p.S202* |
| STAD | TCGA-HU-A4GT-01 | exon_skip_424981 | 89326028 | 89326149 | 89326076 | 89326076 | Nonsense_Mutation | C | T | p.R381* |
| STAD | TCGA-HU-A4GT-01 | exon_skip_424981 | 89326028 | 89326149 | 89326076 | 89326076 | Nonsense_Mutation | C | T | p.R381X |
| SKCM | TCGA-D3-A3MV-06 | exon_skip_424981 | 89326028 | 89326149 | 89326115 | 89326115 | Nonsense_Mutation | A | T | p.K394* |
| SKCM | TCGA-D3-A3MV-06 | exon_skip_424981 | 89326028 | 89326149 | 89326115 | 89326115 | Nonsense_Mutation | A | T | p.K394X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_424997 | 89349732 | 89349902 | 89349828 | 89349828 | Nonsense_Mutation | C | T | p.R678* |
| SKCM | TCGA-D3-A3MU-06 | exon_skip_424981 | 89326028 | 89326149 | 89326027 | 89326027 | Splice_Site | G | A | . |
| LIHC | TCGA-LG-A6GG-01 | exon_skip_424984 | 89329676 | 89329769 | 89329771 | 89329771 | Splice_Site | T | C | . |
| - 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 |
| HEC108_ENDOMETRIUM | 89326028 | 89326149 | 89326098 | 89326098 | Frame_Shift_Del | A | - | p.E388fs |
| MDAPCA2B_PROSTATE | 89349732 | 89349902 | 89349778 | 89349778 | Frame_Shift_Del | A | - | p.Q661fs |
| SW48_LARGE_INTESTINE | 89349732 | 89349902 | 89349778 | 89349778 | Frame_Shift_Del | A | - | p.Q661fs |
| NCIH630_LARGE_INTESTINE | 89349732 | 89349902 | 89349778 | 89349778 | Frame_Shift_Del | A | - | p.Q661fs |
| SNU1040_LARGE_INTESTINE | 89349732 | 89349902 | 89349778 | 89349778 | Frame_Shift_Del | A | - | p.Q661fs |
| 769P_KIDNEY | 89318003 | 89318139 | 89318095 | 89318100 | In_Frame_Del | CCCTGA | - | p.LT328del |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 89304373 | 89304532 | 89304411 | 89304411 | Missense_Mutation | G | A | p.V80M |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 89304384 | 89304532 | 89304411 | 89304411 | Missense_Mutation | G | A | p.V80M |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 89304337 | 89304532 | 89304411 | 89304411 | Missense_Mutation | G | A | p.V80M |
| OV90_OVARY | 89304373 | 89304532 | 89304469 | 89304469 | Missense_Mutation | G | C | p.W99S |
| OV90_OVARY | 89304384 | 89304532 | 89304469 | 89304469 | Missense_Mutation | G | C | p.W99S |
| OV90_OVARY | 89304337 | 89304532 | 89304469 | 89304469 | Missense_Mutation | G | C | p.W99S |
| MDAMB330_BREAST | 89304373 | 89304532 | 89304475 | 89304475 | Missense_Mutation | C | T | p.A101V |
| MDAMB330_BREAST | 89304384 | 89304532 | 89304475 | 89304475 | Missense_Mutation | C | T | p.A101V |
| MDAMB330_BREAST | 89304337 | 89304532 | 89304475 | 89304475 | Missense_Mutation | C | T | p.A101V |
| HCC1599_BREAST | 89304373 | 89304532 | 89304524 | 89304524 | Missense_Mutation | C | G | p.F117L |
| HCC1599_BREAST | 89304384 | 89304532 | 89304524 | 89304524 | Missense_Mutation | C | G | p.F117L |
| HCC1599_BREAST | 89304337 | 89304532 | 89304524 | 89304524 | Missense_Mutation | C | G | p.F117L |
| NCIH446_LUNG | 89311804 | 89312031 | 89311855 | 89311855 | Missense_Mutation | G | A | p.G163E |
| EW1_BONE | 89311804 | 89312031 | 89311917 | 89311917 | Missense_Mutation | G | T | p.A184S |
| HEC108_ENDOMETRIUM | 89311804 | 89312031 | 89311966 | 89311966 | Missense_Mutation | G | A | p.G200E |
| JHUEM7_ENDOMETRIUM | 89311804 | 89312031 | 89311972 | 89311972 | Missense_Mutation | C | T | p.S202L |
| CCK81_LARGE_INTESTINE | 89311804 | 89312031 | 89311972 | 89311972 | Missense_Mutation | C | T | p.S202L |
| DU145_PROSTATE | 89311804 | 89312031 | 89311998 | 89311998 | Missense_Mutation | G | T | p.G211W |
| HCC1359_LUNG | 89311804 | 89312031 | 89311999 | 89311999 | Missense_Mutation | G | T | p.G211V |
| SNU1040_LARGE_INTESTINE | 89314640 | 89314734 | 89314675 | 89314675 | Missense_Mutation | A | G | p.K234E |
| SNU1040_LARGE_INTESTINE | 89314640 | 89314734 | 89314721 | 89314721 | Missense_Mutation | C | T | p.A249V |
| NCIH2004RT_SOFT_TISSUE | 89314640 | 89314734 | 89314723 | 89314723 | Missense_Mutation | G | A | p.V250M |
| SW1088_CENTRAL_NERVOUS_SYSTEM | 89318003 | 89318139 | 89318065 | 89318065 | Missense_Mutation | G | T | p.S317I |
| HS939T_SKIN | 89318003 | 89318139 | 89318085 | 89318085 | Missense_Mutation | C | T | p.H324Y |
| SNUC4_LARGE_INTESTINE | 89318003 | 89318139 | 89318116 | 89318116 | Missense_Mutation | T | C | p.I334T |
| MDAMB361_BREAST | 89318003 | 89318139 | 89318133 | 89318133 | Missense_Mutation | G | T | p.A340S |
| NCIH460_LUNG | 89318003 | 89318139 | 89318134 | 89318134 | Missense_Mutation | C | T | p.A340V |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89326028 | 89326149 | 89326044 | 89326044 | Missense_Mutation | G | A | p.R370H |
| PACADD137_PANCREAS | 89326028 | 89326149 | 89326092 | 89326092 | Missense_Mutation | T | C | p.M386T |
| HEC59_ENDOMETRIUM | 89326028 | 89326149 | 89326108 | 89326108 | Missense_Mutation | A | G | p.I391M |
| SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89329676 | 89329769 | 89329710 | 89329710 | Missense_Mutation | T | A | p.L437I |
| HEC251_ENDOMETRIUM | 89329676 | 89329769 | 89329736 | 89329736 | Missense_Mutation | G | T | p.K445N |
| TGBC11TKB_STOMACH | 89338577 | 89338731 | 89338589 | 89338589 | Missense_Mutation | C | T | p.A524V |
| DV90_LUNG | 89338577 | 89338731 | 89338622 | 89338622 | Missense_Mutation | T | C | p.I535T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 89338577 | 89338731 | 89338636 | 89338636 | Missense_Mutation | G | C | p.A540P |
| HCT15_LARGE_INTESTINE | 89338577 | 89338731 | 89338711 | 89338711 | Missense_Mutation | A | G | p.M565V |
| SNU1040_LARGE_INTESTINE | 89345012 | 89345125 | 89345070 | 89345070 | Missense_Mutation | A | G | p.N591S |
| SKGT2_STOMACH | 89345012 | 89345125 | 89345084 | 89345084 | Missense_Mutation | T | A | p.Y596N |
| NB1_AUTONOMIC_GANGLIA | 89361300 | 89361402 | 89361343 | 89361343 | Missense_Mutation | T | G | p.I928R |
| SNU1040_LARGE_INTESTINE | 89361300 | 89361402 | 89361361 | 89361361 | Missense_Mutation | C | T | p.A934V |
| 22RV1_PROSTATE | 89338577 | 89338731 | 89338708 | 89338708 | Nonsense_Mutation | G | T | p.G564* |
| G292CLONEA141B1_BONE | 89349732 | 89349902 | 89349828 | 89349828 | Nonsense_Mutation | C | T | p.R678* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HERC6 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HERC6 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HERC6 |
Top |
RelatedDrugs for HERC6 |
| 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 |
Top |
RelatedDiseases for HERC6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HERC6 | C0021400 | Influenza | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|