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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 ATXN7L1 |
 Gene summary |
| Gene information | Gene symbol | ATXN7L1 | Gene ID | 222255 |
| Gene name | ataxin 7 like 1 | |
| Synonyms | ATXN7L4 | |
| Cytomap | 7q22.3 | |
| Type of gene | protein-coding | |
| Description | ataxin-7-like protein 1ataxin 7-like 4ataxin-7-like protein 4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9ULK2 | |
| Context | PubMed: ATXN7L1 [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 ATXN7L1 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 ATXN7L1 |
| 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 ATXN7L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478791 | 7 | 105248217:105248340:105250975:105251050:105254308:105255263 | 105250975:105251050 | ENSG00000146776.10 | ENST00000477775.1 |
| exon_skip_478798 | 7 | 105254584:105255263:105258238:105258544:105260646:105260768 | 105258238:105258544 | ENSG00000146776.10 | ENST00000388807.4,ENST00000484475.1 |
| exon_skip_478799 | 7 | 105254584:105255263:105260646:105260768:105264521:105264713 | 105260646:105260768 | ENSG00000146776.10 | ENST00000472195.1,ENST00000474433.1,ENST00000419735.3,ENST00000477775.1 |
| exon_skip_478800 | 7 | 105260679:105260768:105264521:105264714:105278799:105279056 | 105264521:105264714 | ENSG00000146776.10 | ENST00000472195.1,ENST00000474433.1,ENST00000419735.3,ENST00000477775.1 |
| exon_skip_478801 | 7 | 105278815:105279056:105279933:105280016:105283284:105283568 | 105279933:105280016 | ENSG00000146776.10 | ENST00000472195.1,ENST00000474433.1,ENST00000472910.1,ENST00000419735.3,ENST00000477775.1 |
| exon_skip_478802 | 7 | 105278815:105279056:105283284:105283568:105305512:105305735 | 105283284:105283568 | ENSG00000146776.10 | ENST00000485652.1 |
| exon_skip_478803 | 7 | 105283284:105283568:105289853:105290007:105305512:105305735 | 105289853:105290007 | ENSG00000146776.10 | ENST00000474433.1 |
| exon_skip_478804 | 7 | 105283284:105283568:105305512:105305735:105429049:105429154 | 105305512:105305735 | ENSG00000146776.10 | ENST00000419735.3 |
| exon_skip_478809 | 7 | 105305512:105305735:105429049:105429154:105516257:105516326 | 105429049:105429154 | ENSG00000146776.10 | ENST00000419735.3 |
| exon_skip_478810 | 7 | 105400999:105401909:105429049:105429154:105516257:105516326 | 105429049:105429154 | ENSG00000146776.10 | ENST00000318724.4 |
| exon_skip_478812 | 7 | 105429049:105429154:105516257:105516326:105516823:105516923 | 105516257:105516326 | ENSG00000146776.10 | ENST00000481880.1,ENST00000318724.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATXN7L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478791 | 7 | 105248217:105248340:105250975:105251050:105254308:105255263 | 105250975:105251050 | ENSG00000146776.10 | ENST00000477775.1 |
| exon_skip_478798 | 7 | 105254584:105255263:105258238:105258544:105260646:105260768 | 105258238:105258544 | ENSG00000146776.10 | ENST00000484475.1,ENST00000388807.4 |
| exon_skip_478799 | 7 | 105254584:105255263:105260646:105260768:105264521:105264713 | 105260646:105260768 | ENSG00000146776.10 | ENST00000419735.3,ENST00000477775.1,ENST00000474433.1,ENST00000472195.1 |
| exon_skip_478800 | 7 | 105260679:105260768:105264521:105264714:105278799:105279056 | 105264521:105264714 | ENSG00000146776.10 | ENST00000419735.3,ENST00000477775.1,ENST00000474433.1,ENST00000472195.1 |
| exon_skip_478801 | 7 | 105278815:105279056:105279933:105280016:105283284:105283568 | 105279933:105280016 | ENSG00000146776.10 | ENST00000419735.3,ENST00000477775.1,ENST00000474433.1,ENST00000472195.1,ENST00000472910.1 |
| exon_skip_478802 | 7 | 105278815:105279056:105283284:105283568:105305512:105305735 | 105283284:105283568 | ENSG00000146776.10 | ENST00000485652.1 |
| exon_skip_478803 | 7 | 105283284:105283568:105289853:105290007:105305512:105305735 | 105289853:105290007 | ENSG00000146776.10 | ENST00000474433.1 |
| exon_skip_478804 | 7 | 105283284:105283568:105305512:105305735:105429049:105429154 | 105305512:105305735 | ENSG00000146776.10 | ENST00000419735.3 |
| exon_skip_478809 | 7 | 105305512:105305735:105429049:105429154:105516257:105516326 | 105429049:105429154 | ENSG00000146776.10 | ENST00000419735.3 |
| exon_skip_478810 | 7 | 105400999:105401909:105429049:105429154:105516257:105516326 | 105429049:105429154 | ENSG00000146776.10 | ENST00000318724.4 |
| exon_skip_478812 | 7 | 105429049:105429154:105516257:105516326:105516823:105516923 | 105516257:105516326 | ENSG00000146776.10 | ENST00000318724.4,ENST00000481880.1 |
| 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 ATXN7L1 |
| 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 |
| ENST00000419735 | 105260646 | 105260768 | Frame-shift |
| ENST00000419735 | 105264521 | 105264714 | Frame-shift |
| ENST00000419735 | 105279933 | 105280016 | Frame-shift |
| ENST00000419735 | 105305512 | 105305735 | Frame-shift |
| ENST00000419735 | 105429049 | 105429154 | 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 |
| ENST00000419735 | 105260646 | 105260768 | Frame-shift |
| ENST00000419735 | 105264521 | 105264714 | Frame-shift |
| ENST00000419735 | 105279933 | 105280016 | Frame-shift |
| ENST00000419735 | 105305512 | 105305735 | Frame-shift |
| ENST00000419735 | 105429049 | 105429154 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATXN7L1 |
| 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 |
| ENST00000419735 | 5434 | 861 | 105429049 | 105429154 | 297 | 401 | 83 | 118 |
| 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 |
| ENST00000419735 | 5434 | 861 | 105429049 | 105429154 | 297 | 401 | 83 | 118 |
| 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 |
| Q9ULK2 | 83 | 118 | 1 | 124 | Alternative sequence | ID=VSP_041344;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULK2 | 83 | 118 | 1 | 861 | Chain | ID=PRO_0000064718;Note=Ataxin-7-like protein 1 |
| 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 |
| Q9ULK2 | 83 | 118 | 1 | 124 | Alternative sequence | ID=VSP_041344;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULK2 | 83 | 118 | 1 | 861 | Chain | ID=PRO_0000064718;Note=Ataxin-7-like protein 1 |
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SNVs in the skipped exons for ATXN7L1 |
| - 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. |
ATXN7L1_BRCA_exon_skip_478799_psi_boxplot.png |
| - 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_478791 | 105250976 | 105251050 | 105251040 | 105251040 | Frame_Shift_Del | T | - | p.N828fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_478802 | 105283285 | 105283568 | 105283314 | 105283314 | Frame_Shift_Del | T | - | p.N278fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_478804 | 105305513 | 105305735 | 105305649 | 105305649 | Frame_Shift_Del | T | - | p.T148fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_478799 | 105260647 | 105260768 | 105260699 | 105260699 | Nonsense_Mutation | G | A | p.R489* |
| BRCA | TCGA-A8-A08R-01 | exon_skip_478799 | 105260647 | 105260768 | 105260645 | 105260645 | Splice_Site | A | T | e9+2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A8-A08R-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_478799 | |
| Skipped exon start: 105260647 | |
| Skipped exon end: 105260768 | |
| Mutation start: 105260645 | |
| Mutation end: 105260645 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: e9+2 | |
exon_skip_478799_BRCA_TCGA-A8-A08R-01.png | |
| - 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105250976 | 105251050 | 105251040 | 105251040 | Frame_Shift_Del | T | - | p.N828fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 105283285 | 105283568 | 105283414 | 105283417 | Frame_Shift_Del | GGAC | - | p.VL244fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 105283285 | 105283568 | 105283418 | 105283419 | Frame_Shift_Ins | - | GGTG | p.-243fs |
| JHH2_LIVER | 105264522 | 105264714 | 105264571 | 105264571 | Missense_Mutation | G | T | p.S449Y |
| SW684_SOFT_TISSUE | 105264522 | 105264714 | 105264571 | 105264571 | Missense_Mutation | G | A | p.S449F |
| MEWO_SKIN | 105264522 | 105264714 | 105264695 | 105264695 | Missense_Mutation | T | A | p.I408L |
| NB1643_AUTONOMIC_GANGLIA | 105264522 | 105264714 | 105264712 | 105264712 | Missense_Mutation | G | T | p.P402Q |
| EN_ENDOMETRIUM | 105279934 | 105280016 | 105279941 | 105279941 | Missense_Mutation | G | T | p.T313N |
| SKCO1_LARGE_INTESTINE | 105279934 | 105280016 | 105279986 | 105279986 | Missense_Mutation | C | A | p.G298V |
| EFO27_OVARY | 105283285 | 105283568 | 105283360 | 105283360 | Missense_Mutation | T | C | p.I263V |
| SBC5_LUNG | 105283285 | 105283568 | 105283563 | 105283563 | Missense_Mutation | G | C | p.P195R |
| HEC151_ENDOMETRIUM | 105305513 | 105305735 | 105305529 | 105305529 | Missense_Mutation | A | T | p.S188T |
| MCC142_SKIN | 105305513 | 105305735 | 105305677 | 105305677 | Missense_Mutation | A | T | p.N138K |
| KYSE70_OESOPHAGUS | 105429050 | 105429154 | 105429124 | 105429124 | Missense_Mutation | T | C | p.H94R |
| 2313287_STOMACH | 105429050 | 105429154 | 105429133 | 105429133 | Missense_Mutation | T | C | p.Y91C |
| NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105516258 | 105516326 | 105516274 | 105516274 | Missense_Mutation | C | G | p.M78I |
| MFE296_ENDOMETRIUM | 105250976 | 105251050 | 105250981 | 105250981 | Nonsense_Mutation | G | A | p.R848* |
| 8305C_THYROID | 105260647 | 105260768 | 105260675 | 105260675 | Nonsense_Mutation | C | A | p.E497* |
| HT115_LARGE_INTESTINE | 105260647 | 105260768 | 105260699 | 105260699 | Nonsense_Mutation | G | A | p.R489* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 105264522 | 105264714 | 105264523 | 105264523 | Splice_Site | G | A | p.A465V |
| DETROIT562_UPPER_AERODIGESTIVE_TRACT | 105305513 | 105305735 | 105305734 | 105305734 | Splice_Site | C | T | p.E119E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATXN7L1 |
| 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 ATXN7L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATXN7L1 |
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RelatedDrugs for ATXN7L1 |
| 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 ATXN7L1 |
| 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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