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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 ARNT2 |
 Gene summary |
| Gene information | Gene symbol | ARNT2 | Gene ID | 9915 |
| Gene name | aryl hydrocarbon receptor nuclear translocator 2 | |
| Synonyms | WEDAS|bHLHe1 | |
| Cytomap | 15q25.1 | |
| Type of gene | protein-coding | |
| Description | aryl hydrocarbon receptor nuclear translocator 2ARNT protein 2class E basic helix-loop-helix protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9HBZ2 | |
| Context | PubMed: ARNT2 [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 |
| ARNT2 | GO:0001666 | response to hypoxia | 12239177 |
| ARNT2 | GO:0006355 | regulation of transcription, DNA-templated | 11782478 |
| ARNT2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 24465693 |
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Exon skipping events across known transcript of Ensembl for ARNT2 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 ARNT2 |
| 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 ARNT2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_124211 | 15 | 80696692:80696888:80743220:80743335:80750269:80750317 | 80743220:80743335 | ENSG00000172379.14 | ENST00000303329.4 |
| exon_skip_124216 | 15 | 80733579:80733719:80735177:80735366:80743220:80743285 | 80735177:80735366 | ENSG00000172379.14 | ENST00000533983.1 |
| exon_skip_124220 | 15 | 80743220:80743335:80750269:80750317:80762558:80762772 | 80750269:80750317 | ENSG00000172379.14 | ENST00000529181.1,ENST00000533983.1,ENST00000527771.1,ENST00000303329.4 |
| exon_skip_124223 | 15 | 80762583:80762772:80767350:80767564:80800496:80800599 | 80767350:80767564 | ENSG00000172379.14 | ENST00000533983.1,ENST00000527771.1,ENST00000303329.4 |
| exon_skip_124229 | 15 | 80872751:80872890:80873579:80873745:80883908:80884045 | 80873579:80873745 | ENSG00000172379.14 | ENST00000533983.1,ENST00000527771.1,ENST00000303329.4 |
| exon_skip_124230 | 15 | 80873579:80873745:80883908:80884045:80885940:80886234 | 80883908:80884045 | ENSG00000172379.14 | ENST00000533983.1,ENST00000527771.1,ENST00000303329.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARNT2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_124211 | 15 | 80696692:80696888:80743220:80743335:80750269:80750317 | 80743220:80743335 | ENSG00000172379.14 | ENST00000303329.4 |
| exon_skip_124216 | 15 | 80733579:80733719:80735177:80735366:80743220:80743285 | 80735177:80735366 | ENSG00000172379.14 | ENST00000533983.1 |
| exon_skip_124220 | 15 | 80743220:80743335:80750269:80750317:80762558:80762772 | 80750269:80750317 | ENSG00000172379.14 | ENST00000529181.1,ENST00000303329.4,ENST00000533983.1,ENST00000527771.1 |
| exon_skip_124223 | 15 | 80762583:80762772:80767350:80767564:80800496:80800599 | 80767350:80767564 | ENSG00000172379.14 | ENST00000303329.4,ENST00000533983.1,ENST00000527771.1 |
| exon_skip_124229 | 15 | 80872751:80872890:80873579:80873745:80883908:80884045 | 80873579:80873745 | ENSG00000172379.14 | ENST00000303329.4,ENST00000533983.1,ENST00000527771.1 |
| exon_skip_124230 | 15 | 80873579:80873745:80883908:80884045:80885940:80886234 | 80883908:80884045 | ENSG00000172379.14 | ENST00000303329.4,ENST00000533983.1,ENST00000527771.1 |
| 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 ARNT2 |
| 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 |
| ENST00000303329 | 80743220 | 80743335 | Frame-shift |
| ENST00000303329 | 80767350 | 80767564 | Frame-shift |
| ENST00000303329 | 80873579 | 80873745 | Frame-shift |
| ENST00000303329 | 80883908 | 80884045 | Frame-shift |
| ENST00000303329 | 80750269 | 80750317 | 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 |
| ENST00000303329 | 80743220 | 80743335 | Frame-shift |
| ENST00000303329 | 80767350 | 80767564 | Frame-shift |
| ENST00000303329 | 80873579 | 80873745 | Frame-shift |
| ENST00000303329 | 80883908 | 80884045 | Frame-shift |
| ENST00000303329 | 80750269 | 80750317 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARNT2 |
| 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 |
| ENST00000303329 | 6575 | 717 | 80750269 | 80750317 | 312 | 359 | 49 | 64 |
| 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 |
| ENST00000303329 | 6575 | 717 | 80750269 | 80750317 | 312 | 359 | 49 | 64 |
| 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 |
| Q9HBZ2 | 49 | 64 | 1 | 717 | Chain | ID=PRO_0000127122;Note=Aryl hydrocarbon receptor nuclear translocator 2 |
| Q9HBZ2 | 49 | 64 | 63 | 116 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| 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 |
| Q9HBZ2 | 49 | 64 | 1 | 717 | Chain | ID=PRO_0000127122;Note=Aryl hydrocarbon receptor nuclear translocator 2 |
| Q9HBZ2 | 49 | 64 | 63 | 116 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
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SNVs in the skipped exons for ARNT2 |
| - 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_124211 | 80743221 | 80743335 | 80743263 | 80743263 | Frame_Shift_Del | C | - | p.A14fs |
| PRAD | TCGA-KK-A6E4-01 | exon_skip_124229 | 80873580 | 80873745 | 80873662 | 80873662 | Frame_Shift_Del | C | - | p.S601fs |
| PRAD | TCGA-KK-A6E4-01 | exon_skip_124229 | 80873580 | 80873745 | 80873662 | 80873662 | Frame_Shift_Del | C | - | p.S612fs |
| HNSC | TCGA-CQ-7064-01 | exon_skip_124230 | 80883909 | 80884045 | 80884001 | 80884001 | Nonsense_Mutation | G | T | p.E660* |
| - 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 |
| SNU175_LARGE_INTESTINE | 80743221 | 80743335 | 80743251 | 80743251 | Missense_Mutation | C | T | p.T21M |
| CME1_SOFT_TISSUE | 80743221 | 80743335 | 80743259 | 80743259 | Missense_Mutation | G | A | p.V24I |
| SNU175_LARGE_INTESTINE | 80743221 | 80743335 | 80743296 | 80743296 | Missense_Mutation | C | T | p.A36V |
| SNU175_LARGE_INTESTINE | 80743221 | 80743335 | 80743328 | 80743328 | Missense_Mutation | C | T | p.R47C |
| LS411N_LARGE_INTESTINE | 80767351 | 80767564 | 80767489 | 80767489 | Missense_Mutation | C | G | p.L183V |
| NCIH2286_LUNG | 80767351 | 80767564 | 80767516 | 80767516 | Missense_Mutation | G | T | p.V192L |
| LNCAPCLONEFGC_PROSTATE | 80767351 | 80767564 | 80767556 | 80767556 | Missense_Mutation | C | T | p.S205L |
| NCIH2795_PLEURA | 80873580 | 80873745 | 80873654 | 80873654 | Missense_Mutation | C | A | p.D609E |
| MG63_BONE | 80883909 | 80884045 | 80883945 | 80883945 | Missense_Mutation | G | A | p.R652Q |
| MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80883909 | 80884045 | 80884031 | 80884031 | Missense_Mutation | A | G | p.T681A |
| HT115_LARGE_INTESTINE | 80767351 | 80767564 | 80767417 | 80767417 | Nonsense_Mutation | C | T | p.R159* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARNT2 |
| 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 ARNT2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARNT2 |
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RelatedDrugs for ARNT2 |
| 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 ARNT2 |
| 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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