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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 LZTR1 |
 Gene summary |
| Gene information | Gene symbol | LZTR1 | Gene ID | 8216 |
| Gene name | leucine zipper like transcription regulator 1 | |
| Synonyms | BTBD29|LZTR-1|NS10|SWNTS2 | |
| Cytomap | 22q11.21|22q11.1-q11.2 | |
| Type of gene | protein-coding | |
| Description | leucine-zipper-like transcriptional regulator 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N653 | |
| Context | PubMed: LZTR1 [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 LZTR1 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 LZTR1 |
| 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 LZTR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363513 | 22 | 21337315:21337378:21340129:21340186:21341792:21341872 | 21340129:21340186 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000443265.1 |
| exon_skip_363514 | 22 | 21337315:21337378:21340129:21340186:21342298:21342407 | 21340129:21340186 | ENSG00000099949.14 | ENST00000414985.1 |
| exon_skip_363517 | 22 | 21337315:21337378:21341792:21341872:21342298:21342407 | 21341792:21341872 | ENSG00000099949.14 | ENST00000389355.3 |
| exon_skip_363519 | 22 | 21340133:21340186:21341792:21341872:21342298:21342407 | 21341792:21341872 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000443265.1 |
| exon_skip_363521 | 22 | 21342298:21342407:21343077:21343161:21343913:21343964 | 21343077:21343161 | ENSG00000099949.14 | ENST00000479606.1,ENST00000414985.1,ENST00000215739.8,ENST00000480895.1,ENST00000443265.1,ENST00000389355.3 |
| exon_skip_363522 | 22 | 21343077:21343161:21343913:21343971:21344674:21344814 | 21343913:21343971 | ENSG00000099949.14 | ENST00000479606.1,ENST00000414985.1,ENST00000215739.8,ENST00000480895.1,ENST00000389355.3 |
| exon_skip_363523 | 22 | 21346502:21346658:21347082:21347186:21347950:21348043 | 21347082:21347186 | ENSG00000099949.14 | ENST00000492480.1 |
| exon_skip_363524 | 22 | 21346502:21346658:21347082:21347193:21347950:21348043 | 21347082:21347193 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000389355.3 |
| exon_skip_363525 | 22 | 21349203:21349315:21349656:21349773:21350034:21350161 | 21349656:21349773 | ENSG00000099949.14 | ENST00000415354.2,ENST00000439171.1 |
| exon_skip_363527 | 22 | 21350984:21351090:21351174:21351255:21351520:21351755 | 21351174:21351255 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000452988.1,ENST00000389355.3,ENST00000463909.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LZTR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363513 | 22 | 21337315:21337378:21340129:21340186:21341792:21341872 | 21340129:21340186 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000443265.1 |
| exon_skip_363514 | 22 | 21337315:21337378:21340129:21340186:21342298:21342407 | 21340129:21340186 | ENSG00000099949.14 | ENST00000414985.1 |
| exon_skip_363517 | 22 | 21337315:21337378:21341792:21341872:21342298:21342407 | 21341792:21341872 | ENSG00000099949.14 | ENST00000389355.3 |
| exon_skip_363519 | 22 | 21340133:21340186:21341792:21341872:21342298:21342407 | 21341792:21341872 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000443265.1 |
| exon_skip_363521 | 22 | 21342298:21342407:21343077:21343161:21343913:21343964 | 21343077:21343161 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000414985.1,ENST00000443265.1,ENST00000389355.3,ENST00000480895.1 |
| exon_skip_363522 | 22 | 21343077:21343161:21343913:21343971:21344674:21344814 | 21343913:21343971 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000414985.1,ENST00000389355.3,ENST00000480895.1 |
| exon_skip_363523 | 22 | 21346502:21346658:21347082:21347186:21347950:21348043 | 21347082:21347186 | ENSG00000099949.14 | ENST00000492480.1 |
| exon_skip_363524 | 22 | 21346502:21346658:21347082:21347193:21347950:21348043 | 21347082:21347193 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000389355.3 |
| exon_skip_363525 | 22 | 21349203:21349315:21349656:21349773:21350034:21350161 | 21349656:21349773 | ENSG00000099949.14 | ENST00000415354.2,ENST00000439171.1 |
| exon_skip_363527 | 22 | 21350984:21351090:21351174:21351255:21351520:21351755 | 21351174:21351255 | ENSG00000099949.14 | ENST00000479606.1,ENST00000215739.8,ENST00000389355.3,ENST00000452988.1,ENST00000463909.1 |
| 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 LZTR1 |
| 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 |
| ENST00000215739 | 21341792 | 21341872 | Frame-shift |
| ENST00000215739 | 21343913 | 21343971 | Frame-shift |
| ENST00000215739 | 21340129 | 21340186 | In-frame |
| ENST00000215739 | 21343077 | 21343161 | In-frame |
| ENST00000215739 | 21347082 | 21347193 | In-frame |
| ENST00000215739 | 21351174 | 21351255 | 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 |
| ENST00000215739 | 21341792 | 21341872 | Frame-shift |
| ENST00000215739 | 21343913 | 21343971 | Frame-shift |
| ENST00000215739 | 21340129 | 21340186 | In-frame |
| ENST00000215739 | 21343077 | 21343161 | In-frame |
| ENST00000215739 | 21347082 | 21347193 | In-frame |
| ENST00000215739 | 21351174 | 21351255 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LZTR1 |
| 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 |
| ENST00000215739 | 4589 | 840 | 21340129 | 21340186 | 623 | 679 | 88 | 106 |
| ENST00000215739 | 4589 | 840 | 21343077 | 21343161 | 869 | 952 | 170 | 197 |
| ENST00000215739 | 4589 | 840 | 21347082 | 21347193 | 1509 | 1619 | 383 | 420 |
| ENST00000215739 | 4589 | 840 | 21351174 | 21351255 | 2685 | 2765 | 775 | 802 |
| 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 |
| ENST00000215739 | 4589 | 840 | 21340129 | 21340186 | 623 | 679 | 88 | 106 |
| ENST00000215739 | 4589 | 840 | 21343077 | 21343161 | 869 | 952 | 170 | 197 |
| ENST00000215739 | 4589 | 840 | 21347082 | 21347193 | 1509 | 1619 | 383 | 420 |
| ENST00000215739 | 4589 | 840 | 21351174 | 21351255 | 2685 | 2765 | 775 | 802 |
| 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 |
| Q8N653 | 88 | 106 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
| Q8N653 | 88 | 106 | 79 | 128 | Repeat | Note=Kelch 1 |
| Q8N653 | 170 | 197 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
| Q8N653 | 170 | 197 | 130 | 185 | Repeat | Note=Kelch 2 |
| Q8N653 | 170 | 197 | 187 | 238 | Repeat | Note=Kelch 3 |
| Q8N653 | 383 | 420 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
| Q8N653 | 383 | 420 | 404 | 404 | Natural variant | ID=VAR_071146;Note=In SWNTS2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24362817;Dbxref=PMID:24362817 |
| Q8N653 | 383 | 420 | 399 | 450 | Repeat | Note=Kelch 6 |
| Q8N653 | 775 | 802 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 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 |
| Q8N653 | 88 | 106 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
| Q8N653 | 88 | 106 | 79 | 128 | Repeat | Note=Kelch 1 |
| Q8N653 | 170 | 197 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
| Q8N653 | 170 | 197 | 130 | 185 | Repeat | Note=Kelch 2 |
| Q8N653 | 170 | 197 | 187 | 238 | Repeat | Note=Kelch 3 |
| Q8N653 | 383 | 420 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
| Q8N653 | 383 | 420 | 404 | 404 | Natural variant | ID=VAR_071146;Note=In SWNTS2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:24362817;Dbxref=PMID:24362817 |
| Q8N653 | 383 | 420 | 399 | 450 | Repeat | Note=Kelch 6 |
| Q8N653 | 775 | 802 | 2 | 840 | Chain | ID=PRO_0000119135;Note=Leucine-zipper-like transcriptional regulator 1 |
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SNVs in the skipped exons for LZTR1 |
| - 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-A1EG-01 | exon_skip_363519 exon_skip_363517 | 21341793 | 21341872 | 21341819 | 21341819 | Frame_Shift_Del | C | - | p.A116fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_363519 exon_skip_363517 | 21341793 | 21341872 | 21341819 | 21341819 | Frame_Shift_Del | C | - | p.A116fs |
| LUAD | TCGA-44-8119-01 | exon_skip_363519 exon_skip_363517 | 21341793 | 21341872 | 21341819 | 21341819 | Frame_Shift_Del | C | - | p.A116fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_363521 | 21343078 | 21343161 | 21343103 | 21343103 | Frame_Shift_Del | G | - | p.G179fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_363523 | 21347083 | 21347186 | 21347173 | 21347173 | Frame_Shift_Del | G | - | p.G414fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_363524 | 21347083 | 21347193 | 21347173 | 21347173 | Frame_Shift_Del | G | - | p.G414fs |
| BRCA | TCGA-E9-A1N8-01 | exon_skip_363527 | 21351175 | 21351255 | 21351200 | 21351201 | Frame_Shift_Ins | - | GGCACTGGACATG | p.D788fs |
| UCEC | TCGA-BS-A0UJ-01 | exon_skip_363522 | 21343914 | 21343971 | 21343948 | 21343948 | Nonsense_Mutation | C | T | p.R210* |
| ESCA | TCGA-L5-A43J-01 | exon_skip_363524 | 21347083 | 21347193 | 21347194 | 21347194 | Splice_Site | G | A | . |
| ESCA | TCGA-L5-A43J-01 | exon_skip_363524 | 21347083 | 21347193 | 21347194 | 21347194 | Splice_Site | G | A | e11+1 |
| - 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 |
| UW228_CENTRAL_NERVOUS_SYSTEM | 21351175 | 21351255 | 21351192 | 21351198 | Frame_Shift_Del | CAAAACG | - | p.DKT781fs |
| SUM229PE_BREAST | 21341793 | 21341872 | 21341818 | 21341819 | Frame_Shift_Ins | - | C | p.A116fs |
| UACC62_SKIN | 21341793 | 21341872 | 21341812 | 21341812 | Missense_Mutation | C | T | p.P114S |
| HEC1A_ENDOMETRIUM | 21341793 | 21341872 | 21341825 | 21341825 | Missense_Mutation | G | A | p.R118H |
| HEC1_ENDOMETRIUM | 21341793 | 21341872 | 21341825 | 21341825 | Missense_Mutation | G | A | p.R118H |
| HEC1B_ENDOMETRIUM | 21341793 | 21341872 | 21341825 | 21341825 | Missense_Mutation | G | A | p.R118H |
| NCIH1437_LUNG | 21341793 | 21341872 | 21341866 | 21341866 | Missense_Mutation | G | C | p.V132L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21343078 | 21343161 | 21343082 | 21343082 | Missense_Mutation | C | T | p.P172S |
| UMUC6_URINARY_TRACT | 21343078 | 21343161 | 21343095 | 21343095 | Missense_Mutation | C | T | p.S176L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21343078 | 21343161 | 21343098 | 21343098 | Missense_Mutation | C | A | p.A177D |
| EFM19_BREAST | 21343078 | 21343161 | 21343109 | 21343109 | Missense_Mutation | A | C | p.T181P |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21343078 | 21343161 | 21343145 | 21343145 | Missense_Mutation | T | C | p.Y193H |
| AN3CA_ENDOMETRIUM | 21343078 | 21343161 | 21343146 | 21343146 | Missense_Mutation | A | G | p.Y193C |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21343078 | 21343161 | 21343151 | 21343151 | Missense_Mutation | G | A | p.G195S |
| MB1_THYROID | 21343914 | 21343971 | 21343940 | 21343940 | Missense_Mutation | T | G | p.L207R |
| HEC108_ENDOMETRIUM | 21347083 | 21347193 | 21347150 | 21347150 | Missense_Mutation | C | T | p.T406M |
| HEC108_ENDOMETRIUM | 21347083 | 21347186 | 21347150 | 21347150 | Missense_Mutation | C | T | p.T406M |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 21347083 | 21347193 | 21347168 | 21347168 | Missense_Mutation | G | A | p.R412H |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 21347083 | 21347186 | 21347168 | 21347168 | Missense_Mutation | G | A | p.R412H |
| TE4_OESOPHAGUS | 21340130 | 21340186 | 21340186 | 21340186 | Splice_Site | G | T | p.R107M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LZTR1 |
| 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 LZTR1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LZTR1 |
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RelatedDrugs for LZTR1 |
| 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 LZTR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| LZTR1 | C0004352 | Autistic Disorder | 1 | CTD_human |
| LZTR1 | C0017636 | Glioblastoma | 1 | CTD_human |
| LZTR1 | C1335929 | Schwannomatosis | 1 | CTD_human;ORPHANET |
| LZTR1 | C3810283 | SCHWANNOMATOSIS 2 | 1 | UNIPROT |
| LZTR1 | C4225280 | NOONAN SYNDROME 10 | 1 | UNIPROT |
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