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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 STAT5B |
 Gene summary |
| Gene information | Gene symbol | STAT5B | Gene ID | 6777 |
| Gene name | signal transducer and activator of transcription 5B | |
| Synonyms | STAT5 | |
| Cytomap | 17q21.2 | |
| Type of gene | protein-coding | |
| Description | signal transducer and activator of transcription 5Btranscription factor STAT5B | |
| Modification date | 20180522 | |
| UniProtAcc | P51692 | |
| Context | PubMed: STAT5B [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 |
| STAT5B | GO:0032355 | response to estradiol | 12552091 |
| STAT5B | GO:0032870 | cellular response to hormone stimulus | 12552091 |
| STAT5B | GO:0045648 | positive regulation of erythrocyte differentiation | 20702587 |
| STAT5B | GO:0060397 | JAK-STAT cascade involved in growth hormone signaling pathway | 12552091 |
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Exon skipping events across known transcript of Ensembl for STAT5B 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 STAT5B |
| 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 STAT5B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_289921 | 17 | 40354774:40354826:40359575:40359746:40362188:40362319 | 40359575:40359746 | ENSG00000173757.5 | ENST00000293328.3 |
| exon_skip_289922 | 17 | 40359599:40359746:40362188:40362319:40362420:40362515 | 40362188:40362319 | ENSG00000173757.5 | ENST00000293328.3,ENST00000481253.2 |
| exon_skip_289924 | 17 | 40364001:40364208:40368031:40368124:40369177:40369300 | 40368031:40368124 | ENSG00000173757.5 | ENST00000481517.1,ENST00000468496.1,ENST00000293328.3 |
| exon_skip_289925 | 17 | 40370172:40370348:40370740:40370896:40371329:40371481 | 40370740:40370896 | ENSG00000173757.5 | ENST00000468312.1,ENST00000293328.3 |
| exon_skip_289926 | 17 | 40375480:40375574:40376796:40376886:40379546:40379703 | 40376796:40376886 | ENSG00000173757.5 | ENST00000468312.1,ENST00000293328.3,ENST00000415845.1 |
| exon_skip_289929 | 17 | 40376796:40376886:40379546:40379703:40384017:40384155 | 40379546:40379703 | ENSG00000173757.5 | ENST00000468312.1,ENST00000293328.3,ENST00000415845.1 |
| exon_skip_289936 | 17 | 40379606:40379703:40384017:40384155:40428265:40428424 | 40384017:40384155 | ENSG00000173757.5 | ENST00000468312.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STAT5B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_289921 | 17 | 40354774:40354826:40359575:40359746:40362188:40362319 | 40359575:40359746 | ENSG00000173757.5 | ENST00000293328.3 |
| exon_skip_289922 | 17 | 40359599:40359746:40362188:40362319:40362420:40362515 | 40362188:40362319 | ENSG00000173757.5 | ENST00000293328.3,ENST00000481253.2 |
| exon_skip_289924 | 17 | 40364001:40364208:40368031:40368124:40369177:40369300 | 40368031:40368124 | ENSG00000173757.5 | ENST00000293328.3,ENST00000468496.1,ENST00000481517.1 |
| exon_skip_289925 | 17 | 40370172:40370348:40370740:40370896:40371329:40371481 | 40370740:40370896 | ENSG00000173757.5 | ENST00000293328.3,ENST00000468312.1 |
| exon_skip_289926 | 17 | 40375480:40375574:40376796:40376886:40379546:40379703 | 40376796:40376886 | ENSG00000173757.5 | ENST00000293328.3,ENST00000468312.1,ENST00000415845.1 |
| exon_skip_289929 | 17 | 40376796:40376886:40379546:40379703:40384017:40384155 | 40379546:40379703 | ENSG00000173757.5 | ENST00000293328.3,ENST00000468312.1,ENST00000415845.1 |
| exon_skip_289936 | 17 | 40379606:40379703:40384017:40384155:40428265:40428424 | 40384017:40384155 | ENSG00000173757.5 | ENST00000468312.1 |
| 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 STAT5B |
| 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 |
| ENST00000293328 | 40362188 | 40362319 | Frame-shift |
| ENST00000293328 | 40379546 | 40379703 | Frame-shift |
| ENST00000293328 | 40359575 | 40359746 | In-frame |
| ENST00000293328 | 40368031 | 40368124 | In-frame |
| ENST00000293328 | 40370740 | 40370896 | In-frame |
| ENST00000293328 | 40376796 | 40376886 | 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 |
| ENST00000293328 | 40362188 | 40362319 | Frame-shift |
| ENST00000293328 | 40379546 | 40379703 | Frame-shift |
| ENST00000293328 | 40359575 | 40359746 | In-frame |
| ENST00000293328 | 40368031 | 40368124 | In-frame |
| ENST00000293328 | 40370740 | 40370896 | In-frame |
| ENST00000293328 | 40376796 | 40376886 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STAT5B |
| 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 |
| ENST00000293328 | 5120 | 787 | 40376796 | 40376886 | 455 | 544 | 95 | 125 |
| ENST00000293328 | 5120 | 787 | 40370740 | 40370896 | 1003 | 1158 | 278 | 329 |
| ENST00000293328 | 5120 | 787 | 40368031 | 40368124 | 1550 | 1642 | 460 | 491 |
| ENST00000293328 | 5120 | 787 | 40359575 | 40359746 | 2076 | 2246 | 635 | 692 |
| 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 |
| ENST00000293328 | 5120 | 787 | 40376796 | 40376886 | 455 | 544 | 95 | 125 |
| ENST00000293328 | 5120 | 787 | 40370740 | 40370896 | 1003 | 1158 | 278 | 329 |
| ENST00000293328 | 5120 | 787 | 40368031 | 40368124 | 1550 | 1642 | 460 | 491 |
| ENST00000293328 | 5120 | 787 | 40359575 | 40359746 | 2076 | 2246 | 635 | 692 |
| 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 |
| P51692 | 95 | 125 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 278 | 329 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 278 | 329 | 232 | 321 | Region | Note=Required for interaction with NMI;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9989503;Dbxref=PMID:9989503 |
| P51692 | 460 | 491 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 635 | 692 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 635 | 692 | 589 | 686 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| P51692 | 635 | 692 | 682 | 682 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42229 |
| P51692 | 635 | 692 | 684 | 684 | Mutagenesis | Note=Abolishes interaction with INSR. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9428692;Dbxref=PMID:9428692 |
| P51692 | 635 | 692 | 646 | 646 | Natural variant | ID=VAR_067368;Note=In GHII%3B transcriptionally inactive. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22419735;Dbxref=PMID:22419735 |
| 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 |
| P51692 | 95 | 125 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 278 | 329 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 278 | 329 | 232 | 321 | Region | Note=Required for interaction with NMI;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9989503;Dbxref=PMID:9989503 |
| P51692 | 460 | 491 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 635 | 692 | 1 | 787 | Chain | ID=PRO_0000182429;Note=Signal transducer and activator of transcription 5B |
| P51692 | 635 | 692 | 589 | 686 | Domain | Note=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191 |
| P51692 | 635 | 692 | 682 | 682 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42229 |
| P51692 | 635 | 692 | 684 | 684 | Mutagenesis | Note=Abolishes interaction with INSR. T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9428692;Dbxref=PMID:9428692 |
| P51692 | 635 | 692 | 646 | 646 | Natural variant | ID=VAR_067368;Note=In GHII%3B transcriptionally inactive. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22419735;Dbxref=PMID:22419735 |
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SNVs in the skipped exons for STAT5B |
| - 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-A3A0-01 | exon_skip_289921 | 40359576 | 40359746 | 40359622 | 40359622 | Frame_Shift_Del | T | - | p.E677fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_289921 | 40359576 | 40359746 | 40359732 | 40359732 | Frame_Shift_Del | A | - | p.W641fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_289922 | 40362189 | 40362319 | 40362311 | 40362311 | Frame_Shift_Del | A | - | p.L595fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_289926 | 40376797 | 40376886 | 40376866 | 40376866 | Frame_Shift_Del | G | - | p.P102fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_289929 | 40379547 | 40379703 | 40379587 | 40379587 | Frame_Shift_Del | A | - | p.L83fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_289929 | 40379547 | 40379703 | 40379600 | 40379600 | Frame_Shift_Del | C | - | p.E78fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_289936 | 40384018 | 40384155 | 40384068 | 40384068 | Frame_Shift_Del | A | - | p.F26fs |
| LIHC | TCGA-DD-A4NH-01 | exon_skip_289936 | 40384018 | 40384155 | 40384099 | 40384100 | Frame_Shift_Ins | - | G | p.H16fs |
| LIHC | TCGA-DD-A4NH-01 | exon_skip_289936 | 40384018 | 40384155 | 40384099 | 40384100 | Frame_Shift_Ins | - | G | p.S16fs |
| BRCA | TCGA-C8-A12T-01 | exon_skip_289926 | 40376797 | 40376886 | 40376887 | 40376887 | Splice_Site | C | T | e3-1 |
| - 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 |
| HTCC3_THYROID | 40359576 | 40359746 | 40359584 | 40359584 | Missense_Mutation | G | C | p.S690C |
| ZR7530_BREAST | 40359576 | 40359746 | 40359652 | 40359652 | Missense_Mutation | G | C | p.I667M |
| NCIH720_LUNG | 40359576 | 40359746 | 40359726 | 40359726 | Missense_Mutation | G | C | p.L643V |
| DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40359576 | 40359746 | 40359729 | 40359729 | Missense_Mutation | T | G | p.N642H |
| DM3_FIBROBLAST | 40359576 | 40359746 | 40359743 | 40359743 | Missense_Mutation | T | C | p.E637G |
| SNUC2B_LARGE_INTESTINE | 40368032 | 40368124 | 40368070 | 40368070 | Missense_Mutation | T | G | p.T479P |
| DU145_PROSTATE | 40368032 | 40368124 | 40368072 | 40368072 | Missense_Mutation | G | A | p.A478V |
| HCT15_LARGE_INTESTINE | 40370741 | 40370896 | 40370846 | 40370846 | Missense_Mutation | C | A | p.R295M |
| AN3CA_ENDOMETRIUM | 40370741 | 40370896 | 40370862 | 40370862 | Missense_Mutation | G | A | p.R290W |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40370741 | 40370896 | 40370892 | 40370892 | Missense_Mutation | C | T | p.E280K |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40376797 | 40376886 | 40376817 | 40376817 | Missense_Mutation | A | C | p.L119V |
| CMK115_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40376797 | 40376886 | 40376817 | 40376817 | Missense_Mutation | A | C | p.L119V |
| M059J_CENTRAL_NERVOUS_SYSTEM | 40379547 | 40379703 | 40379567 | 40379567 | Missense_Mutation | G | T | p.H89N |
| CW2_LARGE_INTESTINE | 40379547 | 40379703 | 40379591 | 40379591 | Missense_Mutation | A | C | p.F81V |
| HEC59_ENDOMETRIUM | 40379547 | 40379703 | 40379593 | 40379593 | Missense_Mutation | C | T | p.G80E |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40379547 | 40379703 | 40379654 | 40379654 | Missense_Mutation | G | A | p.L60F |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 40379547 | 40379703 | 40379696 | 40379696 | Missense_Mutation | C | T | p.V46I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40379547 | 40379703 | 40379696 | 40379696 | Missense_Mutation | C | T | p.V46I |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 40379547 | 40379703 | 40379696 | 40379696 | Missense_Mutation | C | T | p.V46I |
| MRKNU1_BREAST | 40384018 | 40384155 | 40384123 | 40384123 | Missense_Mutation | T | C | p.Q8R |
| SW403_LARGE_INTESTINE | 40384018 | 40384155 | 40384130 | 40384130 | Missense_Mutation | G | T | p.Q6K |
| SNU1040_LARGE_INTESTINE | 40376797 | 40376886 | 40376811 | 40376811 | Nonsense_Mutation | G | A | p.R121* |
| KPMRTRY_SOFT_TISSUE | 40359576 | 40359746 | 40359745 | 40359745 | Splice_Site | C | T | p.Q636Q |
| CPCN_LUNG | 40379547 | 40379703 | 40379547 | 40379547 | Splice_Site | C | G | p.Q95H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAT5B |
| 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 STAT5B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAT5B |
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RelatedDrugs for STAT5B |
| 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 |
| P51692 | DB01254 | Dasatinib | Signal transducer and activator of transcription 5B | small molecule | approved|investigational |
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RelatedDiseases for STAT5B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STAT5B | C1855548 | Laron syndrome type 2 | 3 | CTD_human;ORPHANET;UNIPROT |
| STAT5B | C0079772 | T-Cell Lymphoma | 1 | CTD_human |
| STAT5B | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| STAT5B | C1522378 | Leukemia, Large Granular Lymphocytic | 1 | CTD_human |
| STAT5B | C2931322 | T-Lymphocytopenia | 1 | CTD_human |
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