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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 KCNH1 |
 Gene summary |
| Gene information | Gene symbol | KCNH1 | Gene ID | 3756 |
| Gene name | potassium voltage-gated channel subfamily H member 1 | |
| Synonyms | EAG|EAG1|Kv10.1|TMBTS|ZLS1|h-eag|hEAG1 | |
| Cytomap | 1q32.2 | |
| Type of gene | protein-coding | |
| Description | potassium voltage-gated channel subfamily H member 1EAG channel 1ether-a-go-go potassium channel 1ether-a-go-go, Drosophila, homolog ofpotassium channel, voltage gated eag related subfamily H, member 1potassium voltage-gated channel, subfamily H (eag | |
| Modification date | 20180523 | |
| UniProtAcc | O95259 | |
| Context | PubMed: KCNH1 [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 |
| KCNH1 | GO:0071805 | potassium ion transmembrane transport | 22732247|27005320|27325704 |
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Exon skipping events across known transcript of Ensembl for KCNH1 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 KCNH1 |
| 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 KCNH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_36764 | 1 | 210948689:210948886:210970849:210971102:210977308:210977508 | 210970849:210971102 | ENSG00000143473.7 | ENST00000271751.4,ENST00000367007.4 |
| exon_skip_36765 | 1 | 210977308:210977508:211092981:211093411:211192205:211192598 | 211092981:211093411 | ENSG00000143473.7 | ENST00000367007.4 |
| exon_skip_36766 | 1 | 211092981:211093411:211192124:211192598:211256121:211256240 | 211192124:211192598 | ENSG00000143473.7 | ENST00000271751.4 |
| exon_skip_36767 | 1 | 211092981:211093411:211192205:211192598:211256121:211256240 | 211192205:211192598 | ENSG00000143473.7 | ENST00000367007.4 |
| exon_skip_36768 | 1 | 211256121:211256240:211263903:211264032:211276837:211276944 | 211263903:211264032 | ENSG00000143473.7 | ENST00000271751.4,ENST00000367007.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KCNH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_36764 | 1 | 210948689:210948886:210970849:210971102:210977308:210977508 | 210970849:210971102 | ENSG00000143473.7 | ENST00000271751.4,ENST00000367007.4 |
| exon_skip_36765 | 1 | 210977308:210977508:211092981:211093411:211192205:211192598 | 211092981:211093411 | ENSG00000143473.7 | ENST00000367007.4 |
| exon_skip_36768 | 1 | 211256121:211256240:211263903:211264032:211276837:211276944 | 211263903:211264032 | ENSG00000143473.7 | ENST00000271751.4,ENST00000367007.4 |
| 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 KCNH1 |
| 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 |
| ENST00000271751 | 210970849 | 210971102 | Frame-shift |
| ENST00000271751 | 211192124 | 211192598 | In-frame |
| ENST00000271751 | 211263903 | 211264032 | 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 |
| ENST00000271751 | 210970849 | 210971102 | Frame-shift |
| ENST00000271751 | 211263903 | 211264032 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KCNH1 |
| 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 |
| ENST00000271751 | 3083 | 989 | 211263903 | 211264032 | 339 | 467 | 103 | 146 |
| ENST00000271751 | 3083 | 989 | 211192124 | 211192598 | 587 | 1060 | 186 | 344 |
| 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 |
| ENST00000271751 | 3083 | 989 | 211263903 | 211264032 | 339 | 467 | 103 | 146 |
| 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 |
| O95259 | 103 | 146 | 106 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J7E |
| O95259 | 103 | 146 | 123 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J7E |
| O95259 | 103 | 146 | 1 | 989 | Chain | ID=PRO_0000053994;Note=Potassium voltage-gated channel subfamily H member 1 |
| O95259 | 103 | 146 | 93 | 145 | Domain | Note=PAC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00141 |
| O95259 | 103 | 146 | 1 | 220 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 318 | 344 | Alternative sequence | ID=VSP_000964;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10523298,ECO:0000303|PubMed:15489334;Dbxref=PMID:10523298,PMID:15489334 |
| O95259 | 186 | 344 | 1 | 989 | Chain | ID=PRO_0000053994;Note=Potassium voltage-gated channel subfamily H member 1 |
| O95259 | 186 | 344 | 217 | 217 | Natural variant | ID=VAR_072612;Note=In TMBTS%3B gain-of-function mutation resulting in a decreased threshold of channel activation and slower deactivation compared to wild-type. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25420144;Dbxref=dbSNP:rs727502822,P |
| O95259 | 186 | 344 | 1 | 220 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 242 | 248 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 270 | 290 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 310 | 345 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 221 | 241 | Transmembrane | Note=Helical%3B Name%3DSegment S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 249 | 269 | Transmembrane | Note=Helical%3B Name%3DSegment S2;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| O95259 | 186 | 344 | 291 | 309 | Transmembrane | Note=Helical%3B Name%3DSegment S3;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
| 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 |
| O95259 | 103 | 146 | 106 | 117 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J7E |
| O95259 | 103 | 146 | 123 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J7E |
| O95259 | 103 | 146 | 1 | 989 | Chain | ID=PRO_0000053994;Note=Potassium voltage-gated channel subfamily H member 1 |
| O95259 | 103 | 146 | 93 | 145 | Domain | Note=PAC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00141 |
| O95259 | 103 | 146 | 1 | 220 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q63472 |
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SNVs in the skipped exons for KCNH1 |
| - 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-A3CJ-01 | exon_skip_36764 | 210970850 | 210971102 | 210970975 | 210970975 | Frame_Shift_Del | A | - | p.F570fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_36765 | 211092982 | 211093411 | 211092986 | 211092986 | Frame_Shift_Del | A | - | p.I459fs |
| LUAD | TCGA-NJ-A4YQ-01 | exon_skip_36765 | 211092982 | 211093411 | 211093240 | 211093240 | Frame_Shift_Del | C | - | p.D375fs |
| HNSC | TCGA-CN-A6V3-01 | exon_skip_36766 | 211192125 | 211192598 | 211192448 | 211192448 | Frame_Shift_Del | A | - | p.Y237fs |
| HNSC | TCGA-CN-A6V3-01 | exon_skip_36767 | 211192206 | 211192598 | 211192448 | 211192448 | Frame_Shift_Del | A | - | p.Y237fs |
| COAD | TCGA-AD-5900-01 | exon_skip_36766 | 211192125 | 211192598 | 211192509 | 211192509 | Frame_Shift_Del | A | - | p.K217fs |
| COAD | TCGA-AD-5900-01 | exon_skip_36767 | 211192206 | 211192598 | 211192509 | 211192509 | Frame_Shift_Del | A | - | p.K217fs |
| LUAD | TCGA-38-4625-01 | exon_skip_36766 | 211192125 | 211192598 | 211192527 | 211192527 | Frame_Shift_Del | G | - | p.I210fs |
| LUAD | TCGA-38-4625-01 | exon_skip_36767 | 211192206 | 211192598 | 211192527 | 211192527 | Frame_Shift_Del | G | - | p.I210fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_36768 | 211263904 | 211264032 | 211263943 | 211263943 | Frame_Shift_Del | T | - | p.T134fs |
| COAD | TCGA-AA-3713-01 | exon_skip_36766 | 211192125 | 211192598 | 211192128 | 211192129 | Frame_Shift_Ins | - | CT | p.S343fs |
| STAD | TCGA-BR-4184-01 | exon_skip_36766 | 211192125 | 211192598 | 211192536 | 211192537 | Frame_Shift_Ins | - | G | p.P207fs |
| STAD | TCGA-BR-4184-01 | exon_skip_36767 | 211192206 | 211192598 | 211192536 | 211192537 | Frame_Shift_Ins | - | G | p.P207fs |
| STAD | TCGA-BR-4184-01 | exon_skip_36766 | 211192125 | 211192598 | 211192537 | 211192538 | Frame_Shift_Ins | - | G | p.P207fs |
| STAD | TCGA-BR-4184-01 | exon_skip_36767 | 211192206 | 211192598 | 211192537 | 211192538 | Frame_Shift_Ins | - | G | p.P207fs |
| LUAD | TCGA-86-7954-01 | exon_skip_36765 | 211092982 | 211093411 | 211093086 | 211093086 | Nonsense_Mutation | G | T | p.S426* |
| READ | TCGA-AG-A002-01 | exon_skip_36765 | 211092982 | 211093411 | 211093327 | 211093327 | Nonsense_Mutation | C | A | p.E346X |
| LUSC | TCGA-33-4583-01 | exon_skip_36766 | 211192125 | 211192598 | 211192446 | 211192446 | Nonsense_Mutation | A | T | p.Y237* |
| LUSC | TCGA-33-4583-01 | exon_skip_36767 | 211192206 | 211192598 | 211192446 | 211192446 | Nonsense_Mutation | A | T | p.Y237* |
| LUSC | TCGA-63-5131-01 | exon_skip_36766 | 211192125 | 211192598 | 211192563 | 211192563 | Nonsense_Mutation | G | C | p.Y198* |
| LUSC | TCGA-63-5131-01 | exon_skip_36767 | 211192206 | 211192598 | 211192563 | 211192563 | Nonsense_Mutation | G | C | p.Y198* |
| BLCA | TCGA-KQ-A41R-01 | exon_skip_36766 | 211192125 | 211192598 | 211192582 | 211192582 | Nonsense_Mutation | G | C | p.S192* |
| BLCA | TCGA-KQ-A41R-01 | exon_skip_36767 | 211192206 | 211192598 | 211192582 | 211192582 | Nonsense_Mutation | G | C | p.S192* |
| LUAD | TCGA-17-Z017-01 | exon_skip_36768 | 211263904 | 211264032 | 211263912 | 211263912 | Nonsense_Mutation | G | T | p.S144* |
| THYM | TCGA-ZB-A96H-01 | exon_skip_36768 | 211263904 | 211264032 | 211263959 | 211263959 | Nonsense_Mutation | G | T | p.C128X |
| PAAD | TCGA-Q3-A5QY-01 | exon_skip_36768 | 211263904 | 211264032 | 211263994 | 211263994 | Nonsense_Mutation | G | A | p.R117* |
| - 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 |
| CA922_UPPER_AERODIGESTIVE_TRACT | 210970850 | 210971102 | 210970865 | 210970865 | Missense_Mutation | C | G | p.V634L |
| NCIH1651_LUNG | 210970850 | 210971102 | 210970879 | 210970879 | Missense_Mutation | A | G | p.I629T |
| NCIH1915_LUNG | 210970850 | 210971102 | 210970955 | 210970955 | Missense_Mutation | G | T | p.P604T |
| IGROV1_OVARY | 210970850 | 210971102 | 210970969 | 210970969 | Missense_Mutation | G | A | p.T599M |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 210970850 | 210971102 | 210970979 | 210970979 | Missense_Mutation | C | T | p.E596K |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 210970850 | 210971102 | 210971002 | 210971002 | Missense_Mutation | C | T | p.G588D |
| SNU1040_LARGE_INTESTINE | 210970850 | 210971102 | 210971009 | 210971009 | Missense_Mutation | T | C | p.S586G |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 210970850 | 210971102 | 210971011 | 210971011 | Missense_Mutation | G | A | p.A585V |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 210970850 | 210971102 | 210971060 | 210971060 | Missense_Mutation | C | T | p.V569M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 211092982 | 211093411 | 211093054 | 211093054 | Missense_Mutation | C | T | p.V464M |
| WM88_SKIN | 211092982 | 211093411 | 211093086 | 211093086 | Missense_Mutation | G | A | p.S453L |
| PA1_OVARY | 211092982 | 211093411 | 211093120 | 211093120 | Missense_Mutation | C | G | p.G442R |
| HT55_LARGE_INTESTINE | 211092982 | 211093411 | 211093152 | 211093152 | Missense_Mutation | T | A | p.Q431L |
| SNU520_STOMACH | 211092982 | 211093411 | 211093204 | 211093204 | Missense_Mutation | G | A | p.R414C |
| NCIH740_LUNG | 211092982 | 211093411 | 211093330 | 211093330 | Missense_Mutation | T | C | p.I372V |
| SKUT1_SOFT_TISSUE | 211092982 | 211093411 | 211093365 | 211093365 | Missense_Mutation | C | T | p.R360H |
| A253_SALIVARY_GLAND | 211092982 | 211093411 | 211093382 | 211093382 | Missense_Mutation | T | G | p.K354N |
| MET2B | 211192125 | 211192598 | 211192211 | 211192211 | Missense_Mutation | C | T | p.D316N |
| MET2B | 211192206 | 211192598 | 211192211 | 211192211 | Missense_Mutation | C | T | p.D316N |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 211192125 | 211192598 | 211192226 | 211192226 | Missense_Mutation | C | T | p.A311T |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 211192206 | 211192598 | 211192226 | 211192226 | Missense_Mutation | C | T | p.A311T |
| CP66EBV_MATCHED_NORMAL_TISSUE | 211192125 | 211192598 | 211192302 | 211192302 | Missense_Mutation | T | A | p.K285N |
| CP66EBV_MATCHED_NORMAL_TISSUE | 211192206 | 211192598 | 211192302 | 211192302 | Missense_Mutation | T | A | p.K285N |
| CP66MEL_SKIN | 211192125 | 211192598 | 211192302 | 211192302 | Missense_Mutation | T | A | p.K285N |
| CP66MEL_SKIN | 211192206 | 211192598 | 211192302 | 211192302 | Missense_Mutation | T | A | p.K285N |
| HCT15_LARGE_INTESTINE | 211192125 | 211192598 | 211192310 | 211192310 | Missense_Mutation | C | T | p.D283N |
| HCT15_LARGE_INTESTINE | 211192206 | 211192598 | 211192310 | 211192310 | Missense_Mutation | C | T | p.D283N |
| MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 211192125 | 211192598 | 211192361 | 211192361 | Missense_Mutation | C | T | p.V266M |
| MV411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 211192206 | 211192598 | 211192361 | 211192361 | Missense_Mutation | C | T | p.V266M |
| NCIH596_LUNG | 211192125 | 211192598 | 211192412 | 211192412 | Missense_Mutation | C | T | p.A249T |
| NCIH596_LUNG | 211192206 | 211192598 | 211192412 | 211192412 | Missense_Mutation | C | T | p.A249T |
| AGS_STOMACH | 211192125 | 211192598 | 211192457 | 211192457 | Missense_Mutation | A | C | p.L234V |
| AGS_STOMACH | 211192206 | 211192598 | 211192457 | 211192457 | Missense_Mutation | A | C | p.L234V |
| 2313287_STOMACH | 211192125 | 211192598 | 211192463 | 211192463 | Missense_Mutation | C | T | p.A232T |
| 2313287_STOMACH | 211192206 | 211192598 | 211192463 | 211192463 | Missense_Mutation | C | T | p.A232T |
| SBC1_LUNG | 211192125 | 211192598 | 211192491 | 211192491 | Missense_Mutation | C | A | p.W222C |
| SBC1_LUNG | 211192206 | 211192598 | 211192491 | 211192491 | Missense_Mutation | C | A | p.W222C |
| EMCBAC1_LUNG | 211263904 | 211264032 | 211263946 | 211263946 | Missense_Mutation | T | C | p.I133V |
| PACADD135_PANCREAS | 211263904 | 211264032 | 211263972 | 211263972 | Missense_Mutation | A | G | p.V124A |
| NCIH1437_LUNG | 211263904 | 211264032 | 211263989 | 211263989 | Missense_Mutation | G | T | p.N118K |
| MFE280_ENDOMETRIUM | 211092982 | 211093411 | 211093183 | 211093183 | Nonsense_Mutation | G | A | p.Q421* |
| NCIH2110_LUNG | 211092982 | 211093411 | 211093222 | 211093222 | Nonsense_Mutation | C | A | p.E408* |
| LXF289_LUNG | 211192125 | 211192598 | 211192372 | 211192372 | Nonsense_Mutation | A | T | p.L262* |
| LXF289_LUNG | 211192206 | 211192598 | 211192372 | 211192372 | Nonsense_Mutation | A | T | p.L262* |
| HCC515_LUNG | 211192125 | 211192598 | 211192492 | 211192492 | Nonsense_Mutation | C | T | p.W222* |
| HCC515_LUNG | 211192206 | 211192598 | 211192492 | 211192492 | Nonsense_Mutation | C | T | p.W222* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KCNH1 |
| 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 KCNH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KCNH1 |
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RelatedDrugs for KCNH1 |
| 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 |
| O95259 | DB00458 | Imipramine | Potassium voltage-gated channel subfamily H member 1 | small molecule | approved | |
| O95259 | DB00637 | Astemizole | Potassium voltage-gated channel subfamily H member 1 | small molecule | approved|withdrawn |
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RelatedDiseases for KCNH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KCNH1 | C2678486 | Temple-Baraitser Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
| KCNH1 | C0014544 | Epilepsy | 1 | CTD_human;HPO |
| KCNH1 | C0029463 | Osteosarcoma | 1 | CTD_human |
| KCNH1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| KCNH1 | C0796013 | Zimmerman Laband syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| KCNH1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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