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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 STAT5A |
 Gene summary |
| Gene information | Gene symbol | STAT5A | Gene ID | 6776 |
| Gene name | signal transducer and activator of transcription 5A | |
| Synonyms | MGF|STAT5 | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | signal transducer and activator of transcription 5A | |
| Modification date | 20180522 | |
| UniProtAcc | P42229 | |
| Context | PubMed: STAT5A [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 STAT5A 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 STAT5A |
| 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 STAT5A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152601 | 17 | 40440560:40440616:40441419:40441557:40441883:40442040 | 40441419:40441557 | ENSG00000126561.12 | ENST00000588868.1,ENST00000452307.2,ENST00000590949.1,ENST00000546010.2,ENST00000469124.1,ENST00000345506.4 |
| exon_skip_152605 | 17 | 40441419:40441557:40441883:40442040:40443989:40444055 | 40441883:40442040 | ENSG00000126561.12 | ENST00000588868.1,ENST00000452307.2,ENST00000444283.1,ENST00000590949.1,ENST00000478897.1,ENST00000345506.4 |
| exon_skip_152608 | 17 | 40441911:40442040:40443989:40444079:40447636:40447811 | 40443989:40444079 | ENSG00000126561.12 | ENST00000588868.1,ENST00000452307.2,ENST00000590949.1,ENST00000345506.4,ENST00000590726.2 |
| exon_skip_152610 | 17 | 40452147:40452299:40452732:40452888:40453292:40453472 | 40452732:40452888 | ENSG00000126561.12 | ENST00000588868.1,ENST00000452307.2,ENST00000590949.1,ENST00000546010.2,ENST00000345506.4 |
| exon_skip_152612 | 17 | 40456547:40456670:40457627:40457720:40458258:40458344 | 40457627:40457720 | ENSG00000126561.12 | ENST00000479417.1,ENST00000452307.2,ENST00000590949.1,ENST00000546010.2,ENST00000345506.4 |
| exon_skip_152614 | 17 | 40458258:40458465:40459419:40459514:40459610:40459741 | 40459419:40459514 | ENSG00000126561.12 | ENST00000588868.1,ENST00000587646.1,ENST00000590949.1,ENST00000546010.2,ENST00000591556.1,ENST00000468096.1,ENST00000345506.4 |
| exon_skip_152615 | 17 | 40459419:40459514:40459581:40459583:40459621:40459741 | 40459581:40459583 | ENSG00000126561.12 | ENST00000452307.2 |
| exon_skip_152620 | 17 | 40461064:40461116:40461394:40461502:40462524:40462541 | 40461394:40461502 | ENSG00000126561.12 | ENST00000588868.1,ENST00000452307.2,ENST00000590949.1,ENST00000546010.2,ENST00000468096.1,ENST00000345506.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STAT5A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_152600 | 17 | 40440518:40440616:40441387:40441557:40441883:40442040 | 40441387:40441557 | ENSG00000126561.12 | ENST00000444283.1 |
| exon_skip_152601 | 17 | 40440560:40440616:40441419:40441557:40441883:40442040 | 40441419:40441557 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000546010.2,ENST00000469124.1,ENST00000452307.2,ENST00000588868.1 |
| exon_skip_152605 | 17 | 40441419:40441557:40441883:40442040:40443989:40444055 | 40441883:40442040 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000452307.2,ENST00000444283.1,ENST00000588868.1,ENST00000478897.1 |
| exon_skip_152608 | 17 | 40441911:40442040:40443989:40444079:40447636:40447811 | 40443989:40444079 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000590726.2,ENST00000452307.2,ENST00000588868.1 |
| exon_skip_152610 | 17 | 40452147:40452299:40452732:40452888:40453292:40453472 | 40452732:40452888 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000546010.2,ENST00000452307.2,ENST00000588868.1 |
| exon_skip_152612 | 17 | 40456547:40456670:40457627:40457720:40458258:40458344 | 40457627:40457720 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000546010.2,ENST00000452307.2,ENST00000479417.1 |
| exon_skip_152613 | 17 | 40456547:40456670:40458258:40458465:40459419:40459514 | 40458258:40458465 | ENSG00000126561.12 | ENST00000588868.1 |
| exon_skip_152614 | 17 | 40458258:40458465:40459419:40459514:40459610:40459741 | 40459419:40459514 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000546010.2,ENST00000588868.1,ENST00000468096.1,ENST00000591556.1,ENST00000587646.1 |
| exon_skip_152615 | 17 | 40459419:40459514:40459581:40459583:40459621:40459741 | 40459581:40459583 | ENSG00000126561.12 | ENST00000452307.2 |
| exon_skip_152620 | 17 | 40461064:40461116:40461394:40461502:40462524:40462541 | 40461394:40461502 | ENSG00000126561.12 | ENST00000345506.4,ENST00000590949.1,ENST00000546010.2,ENST00000452307.2,ENST00000588868.1,ENST00000468096.1 |
| 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 STAT5A |
| 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 |
| ENST00000345506 | 40441419 | 40441557 | 5CDS-5UTR |
| ENST00000590949 | 40441419 | 40441557 | 5CDS-5UTR |
| ENST00000345506 | 40441883 | 40442040 | Frame-shift |
| ENST00000590949 | 40441883 | 40442040 | Frame-shift |
| ENST00000345506 | 40459419 | 40459514 | Frame-shift |
| ENST00000590949 | 40459419 | 40459514 | Frame-shift |
| ENST00000345506 | 40443989 | 40444079 | In-frame |
| ENST00000590949 | 40443989 | 40444079 | In-frame |
| ENST00000345506 | 40452732 | 40452888 | In-frame |
| ENST00000590949 | 40452732 | 40452888 | In-frame |
| ENST00000345506 | 40457627 | 40457720 | In-frame |
| ENST00000590949 | 40457627 | 40457720 | In-frame |
| ENST00000345506 | 40461394 | 40461502 | In-frame |
| ENST00000590949 | 40461394 | 40461502 | 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 |
| ENST00000345506 | 40441419 | 40441557 | 5CDS-5UTR |
| ENST00000590949 | 40441419 | 40441557 | 5CDS-5UTR |
| ENST00000345506 | 40441883 | 40442040 | Frame-shift |
| ENST00000590949 | 40441883 | 40442040 | Frame-shift |
| ENST00000345506 | 40459419 | 40459514 | Frame-shift |
| ENST00000590949 | 40459419 | 40459514 | Frame-shift |
| ENST00000345506 | 40443989 | 40444079 | In-frame |
| ENST00000590949 | 40443989 | 40444079 | In-frame |
| ENST00000345506 | 40452732 | 40452888 | In-frame |
| ENST00000590949 | 40452732 | 40452888 | In-frame |
| ENST00000345506 | 40457627 | 40457720 | In-frame |
| ENST00000590949 | 40457627 | 40457720 | In-frame |
| ENST00000345506 | 40461394 | 40461502 | In-frame |
| ENST00000590949 | 40461394 | 40461502 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STAT5A |
| 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 |
| ENST00000345506 | 4318 | 794 | 40443989 | 40444079 | 928 | 1017 | 95 | 125 |
| ENST00000590949 | 3335 | 794 | 40443989 | 40444079 | 1028 | 1117 | 95 | 125 |
| ENST00000345506 | 4318 | 794 | 40452732 | 40452888 | 1476 | 1631 | 278 | 329 |
| ENST00000590949 | 3335 | 794 | 40452732 | 40452888 | 1576 | 1731 | 278 | 329 |
| ENST00000345506 | 4318 | 794 | 40457627 | 40457720 | 2023 | 2115 | 460 | 491 |
| ENST00000590949 | 3335 | 794 | 40457627 | 40457720 | 2123 | 2215 | 460 | 491 |
| ENST00000345506 | 4318 | 794 | 40461394 | 40461502 | 2757 | 2864 | 705 | 740 |
| ENST00000590949 | 3335 | 794 | 40461394 | 40461502 | 2857 | 2964 | 705 | 740 |
| 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 |
| ENST00000345506 | 4318 | 794 | 40443989 | 40444079 | 928 | 1017 | 95 | 125 |
| ENST00000590949 | 3335 | 794 | 40443989 | 40444079 | 1028 | 1117 | 95 | 125 |
| ENST00000345506 | 4318 | 794 | 40452732 | 40452888 | 1476 | 1631 | 278 | 329 |
| ENST00000590949 | 3335 | 794 | 40452732 | 40452888 | 1576 | 1731 | 278 | 329 |
| ENST00000345506 | 4318 | 794 | 40457627 | 40457720 | 2023 | 2115 | 460 | 491 |
| ENST00000590949 | 3335 | 794 | 40457627 | 40457720 | 2123 | 2215 | 460 | 491 |
| ENST00000345506 | 4318 | 794 | 40461394 | 40461502 | 2757 | 2864 | 705 | 740 |
| ENST00000590949 | 3335 | 794 | 40461394 | 40461502 | 2857 | 2964 | 705 | 740 |
| 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 |
| P42229 | 95 | 125 | 96 | 125 | Alternative sequence | ID=VSP_053332;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
| P42229 | 95 | 125 | 96 | 125 | Alternative sequence | ID=VSP_053332;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
| P42229 | 95 | 125 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 95 | 125 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 278 | 329 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 278 | 329 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 460 | 491 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 460 | 491 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 705 | 740 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 705 | 740 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| 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 |
| P42229 | 95 | 125 | 96 | 125 | Alternative sequence | ID=VSP_053332;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
| P42229 | 95 | 125 | 96 | 125 | Alternative sequence | ID=VSP_053332;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|Ref.3;Dbxref=PMID:14702039 |
| P42229 | 95 | 125 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 95 | 125 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 278 | 329 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 278 | 329 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 460 | 491 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 460 | 491 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 705 | 740 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
| P42229 | 705 | 740 | 1 | 794 | Chain | ID=PRO_0000182423;Note=Signal transducer and activator of transcription 5A |
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SNVs in the skipped exons for STAT5A |
| - 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_152605 | 40441884 | 40442040 | 40441919 | 40441919 | Frame_Shift_Del | C | - | p.A55fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_152605 | 40441884 | 40442040 | 40441996 | 40441996 | Frame_Shift_Del | T | - | p.F81fs |
| KIRP | TCGA-UZ-A9PX-01 | exon_skip_152620 | 40461395 | 40461502 | 40461463 | 40461482 | Frame_Shift_Del | CTGTGTGCCCCCAGGCTCCC | - | p.728_734del |
| LUAD | TCGA-05-4424-01 | exon_skip_152610 | 40452733 | 40452888 | 40452733 | 40452733 | Nonsense_Mutation | G | A | p.W278* |
| KIRP | TCGA-HE-7129-01 | exon_skip_152614 | 40459420 | 40459514 | 40459443 | 40459443 | Nonsense_Mutation | C | A | p.Y568X |
| - 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 |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 40441420 | 40441557 | 40441509 | 40441509 | Missense_Mutation | C | A | p.P27H |
| KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40441420 | 40441557 | 40441541 | 40441541 | Missense_Mutation | A | T | p.I38F |
| LNCAPCLONEFGC_PROSTATE | 40441884 | 40442040 | 40442009 | 40442009 | Missense_Mutation | T | A | p.I85N |
| GT3TKB_STOMACH | 40443990 | 40444079 | 40444068 | 40444068 | Missense_Mutation | G | A | p.E122K |
| RERFLCAI_LUNG | 40443990 | 40444079 | 40444068 | 40444068 | Missense_Mutation | G | A | p.E122K |
| DIFI_LARGE_INTESTINE | 40452733 | 40452888 | 40452816 | 40452816 | Missense_Mutation | C | A | p.P306H |
| ST486_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40452733 | 40452888 | 40452875 | 40452875 | Missense_Mutation | G | T | p.A326S |
| 22RV1_PROSTATE | 40457628 | 40457720 | 40457699 | 40457699 | Missense_Mutation | G | T | p.W484C |
| NCIH1573_LUNG | 40457628 | 40457720 | 40457700 | 40457700 | Missense_Mutation | G | C | p.D485H |
| SNUC2A_LARGE_INTESTINE | 40459420 | 40459514 | 40459433 | 40459433 | Missense_Mutation | G | A | p.G565D |
| SNUC2B_LARGE_INTESTINE | 40459420 | 40459514 | 40459433 | 40459433 | Missense_Mutation | G | A | p.G565D |
| CORL321_PLEURA | 40461395 | 40461502 | 40461472 | 40461472 | Missense_Mutation | C | T | p.P731L |
| MM415_SKIN | 40441420 | 40441557 | 40441445 | 40441445 | Nonsense_Mutation | C | T | p.Q6* |
| NCIH1155_LUNG | 40443990 | 40444079 | 40444053 | 40444053 | Nonsense_Mutation | C | T | p.Q117* |
| NCC010_KIDNEY | 40459420 | 40459514 | 40459451 | 40459451 | Nonsense_Mutation | G | A | p.W571* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAT5A |
| 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 STAT5A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAT5A |
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RelatedDrugs for STAT5A |
| 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 STAT5A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STAT5A | C0024667 | Animal Mammary Neoplasms | 5 | CTD_human |
| STAT5A | C0024668 | Mammary Neoplasms, Experimental | 3 | CTD_human |
| STAT5A | C0001418 | Adenocarcinoma | 2 | CTD_human |
| STAT5A | C0007124 | Noninfiltrating Intraductal Carcinoma | 1 | CTD_human |
| STAT5A | C0024121 | Lung Neoplasms | 1 | CTD_human |
| STAT5A | C0032927 | Precancerous Conditions | 1 | CTD_human |
| STAT5A | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| STAT5A | C0206692 | Carcinoma, Lobular | 1 | CTD_human |
| STAT5A | C1176475 | Ductal Carcinoma | 1 | CTD_human |
| STAT5A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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