|
||||||
|
 | |
| |
| |
| |
| 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 HR |
 Gene summary |
| Gene information | Gene symbol | HR | Gene ID | 55806 |
| Gene name | HR, lysine demethylase and nuclear receptor corepressor | |
| Synonyms | ALUNC|AU|HSA277165|HYPT4|MUHH|MUHH1 | |
| Cytomap | 8p21.3 | |
| Type of gene | protein-coding | |
| Description | lysine-specific demethylase hairlesshair growth associatedhairless homologprotein hairless | |
| Modification date | 20180523 | |
| UniProtAcc | O43593 | |
| Context | PubMed: HR [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 HR 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 HR |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for HR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488691 | 8 | 21972581:21973275:21973812:21973941:21976462:21976578 | 21973812:21973941 | ENSG00000168453.10 | ENST00000312841.8 |
| exon_skip_488694 | 8 | 21973812:21973941:21974387:21974552:21976462:21976578 | 21974387:21974552 | ENSG00000168453.10 | ENST00000381418.4 |
| exon_skip_488698 | 8 | 21973812:21973941:21976462:21976578:21976676:21976796 | 21976462:21976578 | ENSG00000168453.10 | ENST00000312841.8 |
| exon_skip_488700 | 8 | 21974387:21974552:21976462:21976578:21976676:21976796 | 21976462:21976578 | ENSG00000168453.10 | ENST00000381418.4 |
| exon_skip_488701 | 8 | 21977631:21977686:21977854:21978020:21978228:21978471 | 21977854:21978020 | ENSG00000168453.10 | ENST00000381418.4,ENST00000517699.1,ENST00000312841.8 |
| exon_skip_488707 | 8 | 21978577:21978741:21979125:21979207:21980005:21980121 | 21979125:21979207 | ENSG00000168453.10 | ENST00000381418.4,ENST00000518461.1,ENST00000312841.8 |
| exon_skip_488708 | 8 | 21978577:21978741:21979125:21979207:21980302:21980364 | 21979125:21979207 | ENSG00000168453.10 | ENST00000517699.1 |
| exon_skip_488713 | 8 | 21979125:21979207:21980005:21980121:21980302:21980364 | 21980005:21980121 | ENSG00000168453.10 | ENST00000381418.4,ENST00000312841.8 |
| exon_skip_488715 | 8 | 21981161:21981326:21982823:21983017:21983094:21983245 | 21982823:21983017 | ENSG00000168453.10 | ENST00000381418.4,ENST00000312841.8 |
| exon_skip_488717 | 8 | 21984998:21985342:21986071:21986723:21987940:21988194 | 21986071:21986723 | ENSG00000168453.10 | ENST00000312841.8 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for HR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_488691 | 8 | 21972581:21973275:21973812:21973941:21976462:21976578 | 21973812:21973941 | ENSG00000168453.10 | ENST00000312841.8 |
| exon_skip_488694 | 8 | 21973812:21973941:21974387:21974552:21976462:21976578 | 21974387:21974552 | ENSG00000168453.10 | ENST00000381418.4 |
| exon_skip_488698 | 8 | 21973812:21973941:21976462:21976578:21976676:21976796 | 21976462:21976578 | ENSG00000168453.10 | ENST00000312841.8 |
| exon_skip_488700 | 8 | 21974387:21974552:21976462:21976578:21976676:21976796 | 21976462:21976578 | ENSG00000168453.10 | ENST00000381418.4 |
| exon_skip_488701 | 8 | 21977631:21977686:21977854:21978020:21978228:21978471 | 21977854:21978020 | ENSG00000168453.10 | ENST00000381418.4,ENST00000312841.8,ENST00000517699.1 |
| exon_skip_488707 | 8 | 21978577:21978741:21979125:21979207:21980005:21980121 | 21979125:21979207 | ENSG00000168453.10 | ENST00000381418.4,ENST00000312841.8,ENST00000518461.1 |
| exon_skip_488708 | 8 | 21978577:21978741:21979125:21979207:21980302:21980364 | 21979125:21979207 | ENSG00000168453.10 | ENST00000517699.1 |
| exon_skip_488713 | 8 | 21979125:21979207:21980005:21980121:21980302:21980364 | 21980005:21980121 | ENSG00000168453.10 | ENST00000381418.4,ENST00000312841.8 |
| exon_skip_488717 | 8 | 21984998:21985342:21986071:21986723:21987940:21988194 | 21986071:21986723 | ENSG00000168453.10 | ENST00000312841.8 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HR |
| 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 |
| ENST00000381418 | 21976462 | 21976578 | Frame-shift |
| ENST00000381418 | 21977854 | 21978020 | Frame-shift |
| ENST00000381418 | 21979125 | 21979207 | Frame-shift |
| ENST00000381418 | 21980005 | 21980121 | Frame-shift |
| ENST00000381418 | 21982823 | 21983017 | Frame-shift |
| ENST00000381418 | 21974387 | 21974552 | 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 |
| ENST00000381418 | 21976462 | 21976578 | Frame-shift |
| ENST00000381418 | 21977854 | 21978020 | Frame-shift |
| ENST00000381418 | 21979125 | 21979207 | Frame-shift |
| ENST00000381418 | 21980005 | 21980121 | Frame-shift |
| ENST00000381418 | 21974387 | 21974552 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HR |
| 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 |
| ENST00000381418 | 6353 | 1189 | 21974387 | 21974552 | 4695 | 4859 | 1071 | 1126 |
| 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 |
| ENST00000381418 | 6353 | 1189 | 21974387 | 21974552 | 4695 | 4859 | 1071 | 1126 |
| 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 |
| O43593 | 1071 | 1126 | 1072 | 1126 | Alternative sequence | ID=VSP_004276;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9736769;Dbxref=PMID:9736769 |
| O43593 | 1071 | 1126 | 1 | 1189 | Chain | ID=PRO_0000083890;Note=Lysine-specific demethylase hairless |
| O43593 | 1071 | 1126 | 946 | 1157 | Domain | Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
| O43593 | 1071 | 1126 | 1125 | 1125 | Metal binding | Note=Iron%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
| 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 |
| O43593 | 1071 | 1126 | 1072 | 1126 | Alternative sequence | ID=VSP_004276;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9736769;Dbxref=PMID:9736769 |
| O43593 | 1071 | 1126 | 1 | 1189 | Chain | ID=PRO_0000083890;Note=Lysine-specific demethylase hairless |
| O43593 | 1071 | 1126 | 946 | 1157 | Domain | Note=JmjC;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
| O43593 | 1071 | 1126 | 1125 | 1125 | Metal binding | Note=Iron%3B catalytic;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00538 |
Top |
SNVs in the skipped exons for HR |
| - 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-A1EG-01 | exon_skip_488691 | 21973813 | 21973941 | 21973838 | 21973838 | Frame_Shift_Del | G | - | p.P1161fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_488691 | 21973813 | 21973941 | 21973853 | 21973853 | Frame_Shift_Del | C | - | p.G1156fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_488701 | 21977855 | 21978020 | 21977954 | 21977954 | Frame_Shift_Del | C | - | p.A893fs |
| SARC | TCGA-DX-AB2H-01 | exon_skip_488701 | 21977855 | 21978020 | 21977962 | 21977965 | Frame_Shift_Del | GCTT | - | p.E889fs |
| SARC | TCGA-DX-AB2H-01 | exon_skip_488701 | 21977855 | 21978020 | 21977962 | 21977965 | Frame_Shift_Del | GCTT | - | p.EA889fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_488708 exon_skip_488707 | 21979126 | 21979207 | 21979182 | 21979182 | Frame_Shift_Del | G | - | p.P716fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_488708 exon_skip_488707 | 21979126 | 21979207 | 21979189 | 21979189 | Frame_Shift_Del | T | - | p.T714fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_488713 | 21980006 | 21980121 | 21980024 | 21980024 | Frame_Shift_Del | G | - | p.P701fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_488713 | 21980006 | 21980121 | 21980063 | 21980063 | Frame_Shift_Del | C | - | p.G688fs |
| COAD | TCGA-G4-6309-01 | exon_skip_488717 | 21986072 | 21986723 | 21986166 | 21986166 | Frame_Shift_Del | G | - | p.P173fs |
| UCEC | TCGA-AX-A064-01 | exon_skip_488717 | 21986072 | 21986723 | 21986496 | 21986496 | Frame_Shift_Del | G | - | p.P63fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_488717 | 21986072 | 21986723 | 21986649 | 21986649 | Frame_Shift_Del | G | - | p.P12fs |
| KICH | TCGA-KO-8408-01 | exon_skip_488713 | 21980006 | 21980121 | 21980059 | 21980060 | Frame_Shift_Ins | - | G | p.H689fs |
| READ | TCGA-F5-6814-01 | exon_skip_488717 | 21986072 | 21986723 | 21986227 | 21986227 | Nonsense_Mutation | C | A | p.E153X |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21980006 | 21980121 | 21980024 | 21980024 | Frame_Shift_Del | G | - | p.P701fs |
| AN3CA_ENDOMETRIUM | 21986072 | 21986723 | 21986112 | 21986112 | Frame_Shift_Del | C | - | p.G191fs |
| KP3_PANCREAS | 21986072 | 21986723 | 21986485 | 21986495 | Frame_Shift_Del | GGGGGAAGCCA | - | p.GFPQ64fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21982824 | 21983017 | 21982906 | 21982907 | Frame_Shift_Ins | - | T | p.K556fs |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21974388 | 21974552 | 21974420 | 21974420 | Missense_Mutation | C | T | p.A1116T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21974388 | 21974552 | 21974423 | 21974423 | Missense_Mutation | C | T | p.E1115K |
| C33A_CERVIX | 21974388 | 21974552 | 21974426 | 21974426 | Missense_Mutation | C | T | p.G1114R |
| SNU1040_LARGE_INTESTINE | 21974388 | 21974552 | 21974483 | 21974483 | Missense_Mutation | G | A | p.R1095W |
| CL34_LARGE_INTESTINE | 21976463 | 21976578 | 21976504 | 21976504 | Missense_Mutation | G | A | p.R1058W |
| VMRCLCD_LUNG | 21977855 | 21978020 | 21977941 | 21977941 | Missense_Mutation | T | A | p.Q897L |
| JMSU1_URINARY_TRACT | 21977855 | 21978020 | 21977956 | 21977956 | Missense_Mutation | C | T | p.G892E |
| NCIH727_LUNG | 21977855 | 21978020 | 21977966 | 21977966 | Missense_Mutation | C | T | p.E889K |
| LS411N_LARGE_INTESTINE | 21979126 | 21979207 | 21979182 | 21979182 | Missense_Mutation | G | T | p.P716Q |
| NCIH1915_LUNG | 21980006 | 21980121 | 21980095 | 21980095 | Missense_Mutation | G | A | p.H678Y |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21980006 | 21980121 | 21980100 | 21980100 | Missense_Mutation | G | A | p.A676V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21986072 | 21986723 | 21986085 | 21986085 | Missense_Mutation | C | T | p.S200N |
| NUGC4_STOMACH | 21986072 | 21986723 | 21986154 | 21986154 | Missense_Mutation | C | T | p.C177Y |
| DV90_LUNG | 21986072 | 21986723 | 21986347 | 21986347 | Missense_Mutation | G | T | p.P113T |
| NCIH854_LUNG | 21986072 | 21986723 | 21986404 | 21986404 | Missense_Mutation | T | C | p.K94E |
| SKMEL24_SKIN | 21986072 | 21986723 | 21986464 | 21986464 | Missense_Mutation | G | A | p.P74S |
| OACM51_OESOPHAGUS | 21986072 | 21986723 | 21986551 | 21986551 | Missense_Mutation | C | T | p.E45K |
| NCIH2110_LUNG | 21986072 | 21986723 | 21986592 | 21986592 | Missense_Mutation | G | C | p.P31R |
| NCIH1355_LUNG | 21986072 | 21986723 | 21986621 | 21986621 | Missense_Mutation | G | C | p.N21K |
| NCIH2030_LUNG | 21986072 | 21986723 | 21986680 | 21986680 | Missense_Mutation | C | T | p.E2K |
| NCIH1703_LUNG | 21973813 | 21973941 | 21973854 | 21973854 | Nonsense_Mutation | C | A | p.G1156* |
| NCIH23_LUNG | 21976463 | 21976578 | 21976569 | 21976569 | Nonsense_Mutation | G | C | p.S1036* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HR |
| 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 HR |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HR |
Top |
RelatedDrugs for HR |
| 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 HR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HR | C1859877 | Alopecia universalis congenita | 3 | UNIPROT |
| HR | C0002170 | Alopecia | 1 | CTD_human |
| HR | C2931059 | Marie Unna congenital hypotrichosis | 1 | CTD_human;ORPHANET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|