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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 HEATR1 |
 Gene summary |
| Gene information | Gene symbol | HEATR1 | Gene ID | 55127 |
| Gene name | HEAT repeat containing 1 | |
| Synonyms | BAP28|UTP10 | |
| Cytomap | 1q43 | |
| Type of gene | protein-coding | |
| Description | HEAT repeat-containing protein 1U3 small nucleolar RNA-associated protein 10 homologUTP10, small subunit (SSU) processome component, homologprotein BAP28 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H583 | |
| Context | PubMed: HEATR1 [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 HEATR1 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 HEATR1 |
| 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 HEATR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_38398 | 1 | 236713970:236714290:236715298:236715407:236716880:236717039 | 236715298:236715407 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38402 | 1 | 236716880:236717039:236717897:236718052:236718595:236718764 | 236717897:236718052 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38404 | 1 | 236724524:236724571:236727797:236727961:236729218:236729345 | 236727797:236727961 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38406 | 1 | 236729945:236730176:236732295:236732424:236734650:236734772 | 236732295:236732424 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38408 | 1 | 236736024:236736128:236737501:236737633:236739518:236739677 | 236737501:236737633 | ENSG00000119285.6 | ENST00000366581.2 |
| exon_skip_38409 | 1 | 236737501:236737633:236737960:236738203:236739518:236739677 | 236737960:236738203 | ENSG00000119285.6 | ENST00000366582.3 |
| exon_skip_38411 | 1 | 236746035:236746172:236746312:236746496:236748324:236748516 | 236746312:236746496 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38412 | 1 | 236749119:236749241:236749540:236749752:236750701:236750790 | 236749540:236749752 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38416 | 1 | 236761177:236761279:236762782:236762924:236766459:236766676 | 236762782:236762924 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HEATR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_38398 | 1 | 236713970:236714290:236715298:236715407:236716880:236717039 | 236715298:236715407 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38402 | 1 | 236716880:236717039:236717897:236718052:236718595:236718764 | 236717897:236718052 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38404 | 1 | 236724524:236724571:236727797:236727961:236729218:236729345 | 236727797:236727961 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38406 | 1 | 236729945:236730176:236732295:236732424:236734650:236734772 | 236732295:236732424 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38408 | 1 | 236736024:236736128:236737501:236737633:236739518:236739677 | 236737501:236737633 | ENSG00000119285.6 | ENST00000366581.2 |
| exon_skip_38409 | 1 | 236737501:236737633:236737960:236738203:236739518:236739677 | 236737960:236738203 | ENSG00000119285.6 | ENST00000366582.3 |
| exon_skip_38411 | 1 | 236746035:236746172:236746312:236746496:236748324:236748516 | 236746312:236746496 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38412 | 1 | 236749119:236749241:236749540:236749752:236750701:236750790 | 236749540:236749752 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| exon_skip_38416 | 1 | 236761177:236761279:236762782:236762924:236766459:236766676 | 236762782:236762924 | ENSG00000119285.6 | ENST00000366582.3,ENST00000366581.2 |
| 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 HEATR1 |
| 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 |
| ENST00000366582 | 236715298 | 236715407 | Frame-shift |
| ENST00000366582 | 236717897 | 236718052 | Frame-shift |
| ENST00000366582 | 236727797 | 236727961 | Frame-shift |
| ENST00000366582 | 236746312 | 236746496 | Frame-shift |
| ENST00000366582 | 236749540 | 236749752 | Frame-shift |
| ENST00000366582 | 236762782 | 236762924 | Frame-shift |
| ENST00000366582 | 236732295 | 236732424 | In-frame |
| ENST00000366582 | 236737960 | 236738203 | 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 |
| ENST00000366582 | 236715298 | 236715407 | Frame-shift |
| ENST00000366582 | 236717897 | 236718052 | Frame-shift |
| ENST00000366582 | 236727797 | 236727961 | Frame-shift |
| ENST00000366582 | 236746312 | 236746496 | Frame-shift |
| ENST00000366582 | 236749540 | 236749752 | Frame-shift |
| ENST00000366582 | 236762782 | 236762924 | Frame-shift |
| ENST00000366582 | 236732295 | 236732424 | In-frame |
| ENST00000366582 | 236737960 | 236738203 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HEATR1 |
| 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 |
| ENST00000366582 | 8464 | 2144 | 236737960 | 236738203 | 3200 | 3442 | 1028 | 1109 |
| ENST00000366582 | 8464 | 2144 | 236732295 | 236732424 | 4064 | 4192 | 1316 | 1359 |
| 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 |
| ENST00000366582 | 8464 | 2144 | 236737960 | 236738203 | 3200 | 3442 | 1028 | 1109 |
| ENST00000366582 | 8464 | 2144 | 236732295 | 236732424 | 4064 | 4192 | 1316 | 1359 |
| 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 |
| Q9H583 | 1028 | 1109 | 1 | 2144 | Chain | ID=PRO_0000424485;Note=HEAT repeat-containing protein 1 |
| Q9H583 | 1028 | 1109 | 2 | 2144 | Chain | ID=PRO_0000186201;Note=HEAT repeat-containing protein 1%2C N-terminally processed |
| Q9H583 | 1316 | 1359 | 1 | 2144 | Chain | ID=PRO_0000424485;Note=HEAT repeat-containing protein 1 |
| Q9H583 | 1316 | 1359 | 2 | 2144 | Chain | ID=PRO_0000186201;Note=HEAT repeat-containing protein 1%2C N-terminally processed |
| 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 |
| Q9H583 | 1028 | 1109 | 1 | 2144 | Chain | ID=PRO_0000424485;Note=HEAT repeat-containing protein 1 |
| Q9H583 | 1028 | 1109 | 2 | 2144 | Chain | ID=PRO_0000186201;Note=HEAT repeat-containing protein 1%2C N-terminally processed |
| Q9H583 | 1316 | 1359 | 1 | 2144 | Chain | ID=PRO_0000424485;Note=HEAT repeat-containing protein 1 |
| Q9H583 | 1316 | 1359 | 2 | 2144 | Chain | ID=PRO_0000186201;Note=HEAT repeat-containing protein 1%2C N-terminally processed |
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SNVs in the skipped exons for HEATR1 |
| - 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-DD-A39Y-01 | exon_skip_38402 | 236717898 | 236718052 | 236718039 | 236718039 | Frame_Shift_Del | A | - | p.F1979fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_38402 | 236717898 | 236718052 | 236718039 | 236718039 | Frame_Shift_Del | A | - | p.F1979fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_38402 | 236717898 | 236718052 | 236718039 | 236718039 | Frame_Shift_Del | A | - | p.F1979fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38404 | 236727798 | 236727961 | 236727858 | 236727858 | Frame_Shift_Del | A | - | p.F1513fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_38404 | 236727798 | 236727961 | 236727864 | 236727864 | Frame_Shift_Del | C | - | p.R1511fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38404 | 236727798 | 236727961 | 236727897 | 236727897 | Frame_Shift_Del | A | - | p.F1500fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_38404 | 236727798 | 236727961 | 236727924 | 236727924 | Frame_Shift_Del | T | - | p.E1491fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38406 | 236732296 | 236732424 | 236732316 | 236732316 | Frame_Shift_Del | C | - | p.V1353fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38406 | 236732296 | 236732424 | 236732319 | 236732319 | Frame_Shift_Del | T | - | p.M1352fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_38406 | 236732296 | 236732424 | 236732386 | 236732386 | Frame_Shift_Del | A | - | p.F1329fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38406 | 236732296 | 236732424 | 236732392 | 236732392 | Frame_Shift_Del | A | - | p.F1327fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_38406 | 236732296 | 236732424 | 236732392 | 236732392 | Frame_Shift_Del | A | - | p.F1327fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38406 | 236732296 | 236732424 | 236732392 | 236732392 | Frame_Shift_Del | A | - | p.F1327fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_38408 | 236737502 | 236737633 | 236737508 | 236737508 | Frame_Shift_Del | A | - | p.F1151fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_38408 | 236737502 | 236737633 | 236737542 | 236737542 | Frame_Shift_Del | T | - | p.N1140fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38408 | 236737502 | 236737633 | 236737595 | 236737595 | Frame_Shift_Del | T | - | p.K1122fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38408 | 236737502 | 236737633 | 236737616 | 236737616 | Frame_Shift_Del | A | - | p.F1115fs |
| STAD | TCGA-HU-8602-01 | exon_skip_38408 | 236737502 | 236737633 | 236737616 | 236737616 | Frame_Shift_Del | A | - | p.A1116fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_38409 | 236737961 | 236738203 | 236738184 | 236738184 | Frame_Shift_Del | A | - | p.L1035fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38411 | 236746313 | 236746496 | 236746488 | 236746488 | Frame_Shift_Del | G | - | p.P750fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38412 | 236749541 | 236749752 | 236749587 | 236749587 | Frame_Shift_Del | T | - | p.K627fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_38416 | 236762783 | 236762924 | 236762827 | 236762827 | Frame_Shift_Del | T | - | p.I153fs |
| BLCA | TCGA-K4-A54R-01 | exon_skip_38409 | 236737961 | 236738203 | 236737981 | 236737981 | Nonsense_Mutation | G | A | p.Q1103* |
| BRCA | TCGA-AO-A03V-01 | exon_skip_38409 | 236737961 | 236738203 | 236738059 | 236738059 | Nonsense_Mutation | C | A | p.E1077* |
| ESCA | TCGA-LN-A4A2-01 | exon_skip_38412 | 236749541 | 236749752 | 236749544 | 236749544 | Nonsense_Mutation | C | A | p.E642X |
| PAAD | TCGA-IB-AAUU-01 | exon_skip_38416 | 236762783 | 236762924 | 236762848 | 236762848 | Nonsense_Mutation | G | A | p.R146* |
| STAD | TCGA-CG-5733-01 | exon_skip_38398 | 236715299 | 236715407 | 236715409 | 236715409 | Splice_Site | T | C | p.V2080_splice |
| KICH | TCGA-KN-8428-01 | exon_skip_38416 | 236762783 | 236762924 | 236762781 | 236762781 | Splice_Site | A | G | . |
| - 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 |
| EN_ENDOMETRIUM | 236746313 | 236746496 | 236746352 | 236746353 | Frame_Shift_Ins | - | T | p.F796fs |
| HEC6_ENDOMETRIUM | 236762783 | 236762924 | 236762883 | 236762884 | Frame_Shift_Ins | - | A | p.C134fs |
| JAR_PLACENTA | 236717898 | 236718052 | 236717961 | 236717963 | In_Frame_Del | AAA | - | p.F2005del |
| UMC11_LUNG | 236715299 | 236715407 | 236715322 | 236715322 | Missense_Mutation | G | C | p.P2108R |
| ABC1_LUNG | 236715299 | 236715407 | 236715349 | 236715349 | Missense_Mutation | T | G | p.Y2099S |
| JHUEM7_ENDOMETRIUM | 236717898 | 236718052 | 236717947 | 236717947 | Missense_Mutation | A | C | p.F2010C |
| ISTMES1_PLEURA | 236717898 | 236718052 | 236718004 | 236718004 | Missense_Mutation | A | C | p.L1991R |
| OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236727798 | 236727961 | 236727881 | 236727881 | Missense_Mutation | T | A | p.T1506S |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236737502 | 236737633 | 236737600 | 236737600 | Missense_Mutation | C | T | p.E1121K |
| SISO_CERVIX | 236737502 | 236737633 | 236737615 | 236737615 | Missense_Mutation | C | A | p.A1116S |
| NCIH1339_LUNG | 236737961 | 236738203 | 236737979 | 236737979 | Missense_Mutation | C | A | p.Q1103H |
| ASH3_THYROID | 236737961 | 236738203 | 236738019 | 236738019 | Missense_Mutation | T | C | p.H1090R |
| TGBC11TKB_STOMACH | 236737961 | 236738203 | 236738043 | 236738043 | Missense_Mutation | A | G | p.L1082P |
| RERFLCAD1_LUNG | 236737961 | 236738203 | 236738049 | 236738049 | Missense_Mutation | T | C | p.K1080R |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236737961 | 236738203 | 236738055 | 236738055 | Missense_Mutation | T | C | p.D1078G |
| EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236737961 | 236738203 | 236738055 | 236738055 | Missense_Mutation | T | C | p.D1078G |
| SCABER_URINARY_TRACT | 236737961 | 236738203 | 236738154 | 236738154 | Missense_Mutation | A | T | p.I1045N |
| 2313287_STOMACH | 236737961 | 236738203 | 236738187 | 236738187 | Missense_Mutation | A | G | p.L1034P |
| SUIT2_PANCREAS | 236746313 | 236746496 | 236746360 | 236746360 | Missense_Mutation | A | G | p.L793S |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236746313 | 236746496 | 236746475 | 236746475 | Missense_Mutation | T | A | p.I755F |
| Y79_AUTONOMIC_GANGLIA | 236749541 | 236749752 | 236749643 | 236749643 | Missense_Mutation | T | A | p.I609F |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 236715299 | 236715407 | 236715299 | 236715299 | Splice_Site | C | T | p.D2116N |
| MFE319_ENDOMETRIUM | 236737961 | 236738203 | 236737962 | 236737962 | Splice_Site | T | - | p.K1109fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HEATR1 |
| 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 HEATR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HEATR1 |
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RelatedDrugs for HEATR1 |
| 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 HEATR1 |
| 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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