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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 ARNTL2 |
 Gene summary |
| Gene information | Gene symbol | ARNTL2 | Gene ID | 56938 |
| Gene name | aryl hydrocarbon receptor nuclear translocator like 2 | |
| Synonyms | BMAL2|CLIF|MOP9|PASD9|bHLHe6 | |
| Cytomap | 12p11.23 | |
| Type of gene | protein-coding | |
| Description | aryl hydrocarbon receptor nuclear translocator-like protein 2CYCLE-like factorPAS domain-containing protein 9basic-helix-loop-helix-PAS protein MOP9brain and muscle ARNT-like 2class E basic helix-loop-helix protein 6member of PAS protein 9transcrip | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WYA1 | |
| Context | PubMed: ARNTL2 [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 |
| ARNTL2 | GO:0006357 | regulation of transcription by RNA polymerase II | 12055078 |
| ARNTL2 | GO:0007623 | circadian rhythm | 10864977 |
| ARNTL2 | GO:0045893 | positive regulation of transcription, DNA-templated | 12738229 |
| ARNTL2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15147242 |
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Exon skipping events across known transcript of Ensembl for ARNTL2 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 ARNTL2 |
| 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 ARNTL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80821 | 12 | 27485987:27486036:27521194:27521345:27533179:27533337 | 27521194:27521345 | ENSG00000029153.10 | ENST00000261178.5 |
| exon_skip_80824 | 12 | 27521268:27521345:27523061:27523163:27529278:27529320 | 27523061:27523163 | ENSG00000029153.10 | ENST00000539558.1,ENST00000266503.5 |
| exon_skip_80826 | 12 | 27521268:27521345:27523061:27523163:27533179:27533337 | 27523061:27523163 | ENSG00000029153.10 | ENST00000311001.5 |
| exon_skip_80832 | 12 | 27521227:27521345:27523100:27523163:27533179:27533337 | 27523100:27523163 | ENSG00000029153.10 | ENST00000457040.2 |
| exon_skip_80838 | 12 | 27521268:27521345:27529278:27529320:27533179:27533337 | 27529278:27529320 | ENSG00000029153.10 | ENST00000544915.1 |
| exon_skip_80848 | 12 | 27523100:27523163:27529278:27529320:27530373:27530436 | 27529278:27529320 | ENSG00000029153.10 | ENST00000539558.1 |
| exon_skip_80849 | 12 | 27523100:27523163:27529278:27529320:27533179:27533337 | 27529278:27529320 | ENSG00000029153.10 | ENST00000266503.5 |
| exon_skip_80861 | 12 | 27533181:27533337:27538413:27538493:27540160:27540253 | 27538413:27538493 | ENSG00000029153.10 | ENST00000542388.1,ENST00000261178.5,ENST00000544915.1,ENST00000395901.2,ENST00000546179.1,ENST00000311001.5,ENST00000266503.5,ENST00000457040.2 |
| exon_skip_80866 | 12 | 27538413:27538493:27540160:27540253:27542111:27542229 | 27540160:27540253 | ENSG00000029153.10 | ENST00000542388.1,ENST00000261178.5,ENST00000544915.1,ENST00000395901.2,ENST00000546179.1,ENST00000311001.5,ENST00000266503.5,ENST00000457040.2 |
| exon_skip_80871 | 12 | 27540160:27540253:27542111:27542229:27543028:27543172 | 27542111:27542229 | ENSG00000029153.10 | ENST00000542388.1,ENST00000261178.5,ENST00000544915.1,ENST00000395901.2,ENST00000546179.1,ENST00000311001.5,ENST00000266503.5,ENST00000457040.2 |
| exon_skip_80875 | 12 | 27556365:27556474:27568801:27568880:27571020:27571129 | 27568801:27568880 | ENSG00000029153.10 | ENST00000542388.1,ENST00000261178.5,ENST00000544915.1,ENST00000395901.2,ENST00000311001.5,ENST00000266503.5,ENST00000457040.2 |
| exon_skip_80876 | 12 | 27568801:27568880:27571020:27571129:27573328:27573466 | 27571020:27571129 | ENSG00000029153.10 | ENST00000542388.1,ENST00000261178.5,ENST00000544915.1,ENST00000395901.2,ENST00000311001.5,ENST00000266503.5,ENST00000457040.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARNTL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80824 | 12 | 27521268:27521345:27523061:27523163:27529278:27529320 | 27523061:27523163 | ENSG00000029153.10 | ENST00000266503.5,ENST00000539558.1 |
| exon_skip_80826 | 12 | 27521268:27521345:27523061:27523163:27533179:27533337 | 27523061:27523163 | ENSG00000029153.10 | ENST00000311001.5 |
| exon_skip_80838 | 12 | 27521268:27521345:27529278:27529320:27533179:27533337 | 27529278:27529320 | ENSG00000029153.10 | ENST00000544915.1 |
| exon_skip_80848 | 12 | 27523100:27523163:27529278:27529320:27530373:27530436 | 27529278:27529320 | ENSG00000029153.10 | ENST00000539558.1 |
| exon_skip_80849 | 12 | 27523100:27523163:27529278:27529320:27533179:27533337 | 27529278:27529320 | ENSG00000029153.10 | ENST00000266503.5 |
| exon_skip_80861 | 12 | 27533181:27533337:27538413:27538493:27540160:27540253 | 27538413:27538493 | ENSG00000029153.10 | ENST00000544915.1,ENST00000395901.2,ENST00000546179.1,ENST00000311001.5,ENST00000261178.5,ENST00000266503.5,ENST00000457040.2,ENST00000542388.1 |
| exon_skip_80866 | 12 | 27538413:27538493:27540160:27540253:27542111:27542229 | 27540160:27540253 | ENSG00000029153.10 | ENST00000544915.1,ENST00000395901.2,ENST00000546179.1,ENST00000311001.5,ENST00000261178.5,ENST00000266503.5,ENST00000457040.2,ENST00000542388.1 |
| exon_skip_80871 | 12 | 27540160:27540253:27542111:27542229:27543028:27543172 | 27542111:27542229 | ENSG00000029153.10 | ENST00000544915.1,ENST00000395901.2,ENST00000546179.1,ENST00000311001.5,ENST00000261178.5,ENST00000266503.5,ENST00000457040.2,ENST00000542388.1 |
| exon_skip_80875 | 12 | 27556365:27556474:27568801:27568880:27571020:27571129 | 27568801:27568880 | ENSG00000029153.10 | ENST00000544915.1,ENST00000395901.2,ENST00000311001.5,ENST00000261178.5,ENST00000266503.5,ENST00000457040.2,ENST00000542388.1 |
| exon_skip_80876 | 12 | 27568801:27568880:27571020:27571129:27573328:27573466 | 27571020:27571129 | ENSG00000029153.10 | ENST00000544915.1,ENST00000395901.2,ENST00000311001.5,ENST00000261178.5,ENST00000266503.5,ENST00000457040.2,ENST00000542388.1 |
| 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 ARNTL2 |
| 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 |
| ENST00000266503 | 27538413 | 27538493 | Frame-shift |
| ENST00000266503 | 27542111 | 27542229 | Frame-shift |
| ENST00000266503 | 27568801 | 27568880 | Frame-shift |
| ENST00000266503 | 27571020 | 27571129 | Frame-shift |
| ENST00000266503 | 27523061 | 27523163 | In-frame |
| ENST00000266503 | 27529278 | 27529320 | In-frame |
| ENST00000266503 | 27540160 | 27540253 | 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 |
| ENST00000266503 | 27538413 | 27538493 | Frame-shift |
| ENST00000266503 | 27542111 | 27542229 | Frame-shift |
| ENST00000266503 | 27568801 | 27568880 | Frame-shift |
| ENST00000266503 | 27571020 | 27571129 | Frame-shift |
| ENST00000266503 | 27523061 | 27523163 | In-frame |
| ENST00000266503 | 27529278 | 27529320 | In-frame |
| ENST00000266503 | 27540160 | 27540253 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARNTL2 |
| 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 |
| ENST00000266503 | 2308 | 636 | 27523061 | 27523163 | 201 | 302 | 61 | 94 |
| ENST00000266503 | 2308 | 636 | 27529278 | 27529320 | 303 | 344 | 95 | 108 |
| ENST00000266503 | 2308 | 636 | 27540160 | 27540253 | 583 | 675 | 188 | 219 |
| 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 |
| ENST00000266503 | 2308 | 636 | 27523061 | 27523163 | 201 | 302 | 61 | 94 |
| ENST00000266503 | 2308 | 636 | 27529278 | 27529320 | 303 | 344 | 95 | 108 |
| ENST00000266503 | 2308 | 636 | 27540160 | 27540253 | 583 | 675 | 188 | 219 |
| 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 |
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SNVs in the skipped exons for ARNTL2 |
| - 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 |
| KIRC | TCGA-BP-5178-01 | exon_skip_80848 exon_skip_80849 exon_skip_80838 | 27529279 | 27529320 | 27529304 | 27529304 | Frame_Shift_Del | A | - | p.K70fs |
| KIRC | TCGA-BP-5178-01 | exon_skip_80848 exon_skip_80849 exon_skip_80838 | 27529279 | 27529320 | 27529304 | 27529304 | Frame_Shift_Del | A | - | p.V103fs |
| COAD | TCGA-AA-A00R-01 | exon_skip_80821 | 27521195 | 27521345 | 27521311 | 27521311 | Nonsense_Mutation | C | T | p.R50X |
| GBM | TCGA-06-0192-01 | exon_skip_80821 | 27521195 | 27521345 | 27521311 | 27521311 | Nonsense_Mutation | C | T | p.R50* |
| UCEC | TCGA-AX-A064-01 | exon_skip_80866 | 27540161 | 27540253 | 27540167 | 27540167 | Nonsense_Mutation | G | T | p.E191* |
| PRAD | TCGA-HC-A9TH-01 | exon_skip_80871 | 27542112 | 27542229 | 27542200 | 27542200 | Nonsense_Mutation | C | A | p.S215* |
| BRCA | TCGA-E2-A1LH-01 | exon_skip_80821 | 27521195 | 27521345 | 27521193 | 27521193 | Splice_Site | A | C | e2-2 |
| - 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 |
| LU135_LUNG | 27542112 | 27542229 | 27542119 | 27542120 | Frame_Shift_Ins | - | ATGAATA | p.T223fs |
| HEC1A_ENDOMETRIUM | 27521195 | 27521345 | 27521312 | 27521312 | Missense_Mutation | G | A | p.R50Q |
| HEC1_ENDOMETRIUM | 27521195 | 27521345 | 27521312 | 27521312 | Missense_Mutation | G | A | p.R50Q |
| HEC1B_ENDOMETRIUM | 27521195 | 27521345 | 27521312 | 27521312 | Missense_Mutation | G | A | p.R50Q |
| HS600T_FIBROBLAST | 27523062 | 27523163 | 27523090 | 27523090 | Missense_Mutation | G | A | p.E71K |
| HEC108_ENDOMETRIUM | 27523062 | 27523163 | 27523143 | 27523143 | Missense_Mutation | A | G | p.I88M |
| HEC108_ENDOMETRIUM | 27523101 | 27523163 | 27523143 | 27523143 | Missense_Mutation | A | G | p.I88M |
| HCT15_LARGE_INTESTINE | 27540161 | 27540253 | 27540223 | 27540223 | Missense_Mutation | G | T | p.K209N |
| CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27542112 | 27542229 | 27542185 | 27542185 | Missense_Mutation | C | T | p.S244F |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27571021 | 27571129 | 27571102 | 27571102 | Missense_Mutation | G | A | p.A583T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 27571021 | 27571129 | 27571021 | 27571021 | Splice_Site | A | C | p.M556L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARNTL2 |
| 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 ARNTL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARNTL2 |
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RelatedDrugs for ARNTL2 |
| 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 ARNTL2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ARNTL2 | C0005586 | Bipolar Disorder | 2 | PSYGENET |
| ARNTL2 | C0085762 | Alcohol abuse | 2 | PSYGENET |
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