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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 STAT1 |
 Gene summary |
| Gene information | Gene symbol | STAT1 | Gene ID | 6772 |
| Gene name | signal transducer and activator of transcription 1 | |
| Synonyms | CANDF7|IMD31A|IMD31B|IMD31C|ISGF-3|STAT91 | |
| Cytomap | 2q32.2 | |
| Type of gene | protein-coding | |
| Description | signal transducer and activator of transcription 1-alpha/betasignal transducer and activator of transcription 1, 91kDsignal transducer and activator of transcription 1, 91kDatranscription factor ISGF-3 components p91/p84 | |
| Modification date | 20180527 | |
| UniProtAcc | P42224 | |
| Context | PubMed: STAT1 [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 |
| STAT1 | GO:0007259 | JAK-STAT cascade | 22002246 |
| STAT1 | GO:0010742 | macrophage derived foam cell differentiation | 26504087 |
| STAT1 | GO:0032727 | positive regulation of interferon-alpha production | 28753426 |
| STAT1 | GO:0033209 | tumor necrosis factor-mediated signaling pathway | 10848577 |
| STAT1 | GO:0045893 | positive regulation of transcription, DNA-templated | 10973496 |
| STAT1 | GO:0051607 | defense response to virus | 28753426 |
| STAT1 | GO:0060333 | interferon-gamma-mediated signaling pathway | 21268089 |
| STAT1 | GO:0060337 | type I interferon signaling pathway | 23386060 |
| STAT1 | GO:0071346 | cellular response to interferon-gamma | 23386060 |
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Exon skipping events across known transcript of Ensembl for STAT1 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 STAT1 |
| 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 STAT1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345636 | 2 | 191839555:191839658:191840035:191840114:191840537:191840613 | 191840035:191840114 | ENSG00000115415.14 | ENST00000423282.1 |
| exon_skip_345640 | 2 | 191839555:191839658:191840537:191840613:191841565:191841648 | 191840537:191840613 | ENSG00000115415.14 | ENST00000409465.1,ENST00000540176.1,ENST00000361099.3 |
| exon_skip_345643 | 2 | 191843581:191843727:191844497:191844592:191845345:191845395 | 191844497:191844592 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000464072.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345644 | 2 | 191847108:191847244:191848367:191848466:191849035:191849119 | 191848367:191848466 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345646 | 2 | 191849035:191849119:191850344:191850386:191851579:191851673 | 191850344:191850386 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345648 | 2 | 191851579:191851673:191851764:191851794:191854340:191854400 | 191851764:191851794 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345649 | 2 | 191851764:191851794:191854340:191854400:191855953:191856046 | 191854340:191854400 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345651 | 2 | 191855953:191856046:191859786:191859945:191862581:191862733 | 191859786:191859945 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345655 | 2 | 191862581:191862733:191862942:191863034:191864351:191864423 | 191862942:191863034 | ENSG00000115415.14 | ENST00000409465.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345657 | 2 | 191864351:191864430:191865799:191865889:191872288:191872387 | 191865799:191865889 | ENSG00000115415.14 | ENST00000452281.1,ENST00000409465.1,ENST00000540176.1,ENST00000361099.3,ENST00000392322.3,ENST00000392323.2,ENST00000424722.1 |
| exon_skip_345658 | 2 | 191874601:191874730:191875092:191875175:191878250:191878313 | 191875092:191875175 | ENSG00000115415.14 | ENST00000392323.2 |
| exon_skip_345660 | 2 | 191874601:191874730:191878250:191878404:191878743:191878894 | 191878250:191878404 | ENSG00000115415.14 | ENST00000452281.1,ENST00000361099.3,ENST00000392322.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STAT1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345636 | 2 | 191839555:191839658:191840035:191840114:191840537:191840613 | 191840035:191840114 | ENSG00000115415.14 | ENST00000423282.1 |
| exon_skip_345640 | 2 | 191839555:191839658:191840537:191840613:191841565:191841648 | 191840537:191840613 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1 |
| exon_skip_345643 | 2 | 191843581:191843727:191844497:191844592:191845345:191845395 | 191844497:191844592 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2,ENST00000464072.1 |
| exon_skip_345644 | 2 | 191847108:191847244:191848367:191848466:191849035:191849119 | 191848367:191848466 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2 |
| exon_skip_345646 | 2 | 191849035:191849119:191850344:191850386:191851579:191851673 | 191850344:191850386 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2 |
| exon_skip_345648 | 2 | 191851579:191851673:191851764:191851794:191854340:191854400 | 191851764:191851794 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2 |
| exon_skip_345649 | 2 | 191851764:191851794:191854340:191854400:191855953:191856046 | 191854340:191854400 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2 |
| exon_skip_345651 | 2 | 191855953:191856046:191859786:191859945:191862581:191862733 | 191859786:191859945 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2 |
| exon_skip_345655 | 2 | 191862581:191862733:191862942:191863034:191864351:191864423 | 191862942:191863034 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000392322.3,ENST00000392323.2 |
| exon_skip_345657 | 2 | 191864351:191864430:191865799:191865889:191872288:191872387 | 191865799:191865889 | ENSG00000115415.14 | ENST00000361099.3,ENST00000409465.1,ENST00000540176.1,ENST00000392322.3,ENST00000452281.1,ENST00000392323.2,ENST00000424722.1 |
| exon_skip_345658 | 2 | 191874601:191874730:191875092:191875175:191878250:191878313 | 191875092:191875175 | ENSG00000115415.14 | ENST00000392323.2 |
| exon_skip_345660 | 2 | 191874601:191874730:191878250:191878404:191878743:191878894 | 191878250:191878404 | ENSG00000115415.14 | ENST00000361099.3,ENST00000392322.3,ENST00000452281.1 |
| 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 STAT1 |
| 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 |
| ENST00000361099 | 191878250 | 191878404 | 3UTR-3UTR |
| ENST00000361099 | 191840537 | 191840613 | Frame-shift |
| ENST00000409465 | 191840537 | 191840613 | Frame-shift |
| ENST00000361099 | 191844497 | 191844592 | Frame-shift |
| ENST00000409465 | 191844497 | 191844592 | Frame-shift |
| ENST00000361099 | 191862942 | 191863034 | Frame-shift |
| ENST00000409465 | 191862942 | 191863034 | Frame-shift |
| ENST00000361099 | 191848367 | 191848466 | In-frame |
| ENST00000409465 | 191848367 | 191848466 | In-frame |
| ENST00000361099 | 191850344 | 191850386 | In-frame |
| ENST00000409465 | 191850344 | 191850386 | In-frame |
| ENST00000361099 | 191851764 | 191851794 | In-frame |
| ENST00000409465 | 191851764 | 191851794 | In-frame |
| ENST00000361099 | 191854340 | 191854400 | In-frame |
| ENST00000409465 | 191854340 | 191854400 | In-frame |
| ENST00000361099 | 191859786 | 191859945 | In-frame |
| ENST00000409465 | 191859786 | 191859945 | In-frame |
| ENST00000361099 | 191865799 | 191865889 | In-frame |
| ENST00000409465 | 191865799 | 191865889 | 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 |
| ENST00000361099 | 191878250 | 191878404 | 3UTR-3UTR |
| ENST00000361099 | 191840537 | 191840613 | Frame-shift |
| ENST00000409465 | 191840537 | 191840613 | Frame-shift |
| ENST00000361099 | 191844497 | 191844592 | Frame-shift |
| ENST00000409465 | 191844497 | 191844592 | Frame-shift |
| ENST00000361099 | 191862942 | 191863034 | Frame-shift |
| ENST00000409465 | 191862942 | 191863034 | Frame-shift |
| ENST00000361099 | 191848367 | 191848466 | In-frame |
| ENST00000409465 | 191848367 | 191848466 | In-frame |
| ENST00000361099 | 191850344 | 191850386 | In-frame |
| ENST00000409465 | 191850344 | 191850386 | In-frame |
| ENST00000361099 | 191851764 | 191851794 | In-frame |
| ENST00000409465 | 191851764 | 191851794 | In-frame |
| ENST00000361099 | 191854340 | 191854400 | In-frame |
| ENST00000409465 | 191854340 | 191854400 | In-frame |
| ENST00000361099 | 191859786 | 191859945 | In-frame |
| ENST00000409465 | 191859786 | 191859945 | In-frame |
| ENST00000361099 | 191865799 | 191865889 | In-frame |
| ENST00000409465 | 191865799 | 191865889 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STAT1 |
| 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 |
| ENST00000361099 | 4327 | 750 | 191865799 | 191865889 | 761 | 850 | 124 | 154 |
| ENST00000409465 | 3114 | 750 | 191865799 | 191865889 | 805 | 894 | 124 | 154 |
| ENST00000361099 | 4327 | 750 | 191859786 | 191859945 | 1174 | 1332 | 262 | 314 |
| ENST00000409465 | 3114 | 750 | 191859786 | 191859945 | 1218 | 1376 | 262 | 314 |
| ENST00000361099 | 4327 | 750 | 191854340 | 191854400 | 1426 | 1485 | 346 | 365 |
| ENST00000409465 | 3114 | 750 | 191854340 | 191854400 | 1470 | 1529 | 346 | 365 |
| ENST00000361099 | 4327 | 750 | 191851764 | 191851794 | 1486 | 1515 | 366 | 375 |
| ENST00000409465 | 3114 | 750 | 191851764 | 191851794 | 1530 | 1559 | 366 | 375 |
| ENST00000361099 | 4327 | 750 | 191850344 | 191850386 | 1610 | 1651 | 407 | 421 |
| ENST00000409465 | 3114 | 750 | 191850344 | 191850386 | 1654 | 1695 | 407 | 421 |
| ENST00000361099 | 4327 | 750 | 191848367 | 191848466 | 1736 | 1834 | 449 | 482 |
| ENST00000409465 | 3114 | 750 | 191848367 | 191848466 | 1780 | 1878 | 449 | 482 |
| 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 |
| ENST00000361099 | 4327 | 750 | 191865799 | 191865889 | 761 | 850 | 124 | 154 |
| ENST00000409465 | 3114 | 750 | 191865799 | 191865889 | 805 | 894 | 124 | 154 |
| ENST00000361099 | 4327 | 750 | 191859786 | 191859945 | 1174 | 1332 | 262 | 314 |
| ENST00000409465 | 3114 | 750 | 191859786 | 191859945 | 1218 | 1376 | 262 | 314 |
| ENST00000361099 | 4327 | 750 | 191854340 | 191854400 | 1426 | 1485 | 346 | 365 |
| ENST00000409465 | 3114 | 750 | 191854340 | 191854400 | 1470 | 1529 | 346 | 365 |
| ENST00000361099 | 4327 | 750 | 191851764 | 191851794 | 1486 | 1515 | 366 | 375 |
| ENST00000409465 | 3114 | 750 | 191851764 | 191851794 | 1530 | 1559 | 366 | 375 |
| ENST00000361099 | 4327 | 750 | 191850344 | 191850386 | 1610 | 1651 | 407 | 421 |
| ENST00000409465 | 3114 | 750 | 191850344 | 191850386 | 1654 | 1695 | 407 | 421 |
| ENST00000361099 | 4327 | 750 | 191848367 | 191848466 | 1736 | 1834 | 449 | 482 |
| ENST00000409465 | 3114 | 750 | 191848367 | 191848466 | 1780 | 1878 | 449 | 482 |
| 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 STAT1 |
| - 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. |
STAT1_COAD_exon_skip_345643_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-G3-A3CJ-01 | exon_skip_345640 | 191840538 | 191840613 | 191840586 | 191840586 | Frame_Shift_Del | G | - | p.P696fs |
| COAD | TCGA-AM-5820-01 | exon_skip_345643 | 191844498 | 191844592 | 191844524 | 191844524 | Frame_Shift_Del | T | - | p.H568fs |
| COAD | TCGA-D5-6928-01 | exon_skip_345643 | 191844498 | 191844592 | 191844524 | 191844524 | Frame_Shift_Del | T | - | p.H568fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_345651 | 191859787 | 191859945 | 191859841 | 191859841 | Frame_Shift_Del | T | - | p.N297fs |
| BLCA | TCGA-LT-A5Z6-01 | exon_skip_345640 | 191840538 | 191840613 | 191840560 | 191840560 | Nonsense_Mutation | C | A | p.E705* |
| LUAD | TCGA-55-8205-01 | exon_skip_345651 | 191859787 | 191859945 | 191859800 | 191859800 | Nonsense_Mutation | G | A | p.Q311* |
| GBM | TCGA-32-2632-01 | exon_skip_345655 | 191862943 | 191863034 | 191862990 | 191862990 | Nonsense_Mutation | G | A | p.Q196* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D5-6928-01 |
| Cancer type: COAD | |
| ESID: exon_skip_345643 | |
| Skipped exon start: 191844498 | |
| Skipped exon end: 191844592 | |
| Mutation start: 191844524 | |
| Mutation end: 191844524 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.H568fs | |
exon_skip_303809_COAD_TCGA-D5-6928-01.png | |
exon_skip_345643_COAD_TCGA-D5-6928-01.png | |
exon_skip_376457_COAD_TCGA-D5-6928-01.png | |
exon_skip_458514_COAD_TCGA-D5-6928-01.png | |
exon_skip_49506_COAD_TCGA-D5-6928-01.png | |
exon_skip_55351_COAD_TCGA-D5-6928-01.png | |
exon_skip_99321_COAD_TCGA-D5-6928-01.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 |
| EN_ENDOMETRIUM | 191859787 | 191859945 | 191859804 | 191859805 | Frame_Shift_Ins | - | A | p.F309fs |
| HEC251_ENDOMETRIUM | 191844498 | 191844592 | 191844589 | 191844589 | Missense_Mutation | T | C | p.N546D |
| NCIH1155_LUNG | 191848368 | 191848466 | 191848409 | 191848409 | Missense_Mutation | C | T | p.A469T |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 191850345 | 191850386 | 191850373 | 191850373 | Missense_Mutation | T | C | p.Q412R |
| HEC108_ENDOMETRIUM | 191854341 | 191854400 | 191854392 | 191854392 | Missense_Mutation | A | G | p.V349A |
| SNU503_LARGE_INTESTINE | 191859787 | 191859945 | 191859820 | 191859820 | Missense_Mutation | C | T | p.R304H |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 191862943 | 191863034 | 191862950 | 191862950 | Missense_Mutation | T | C | p.K209R |
| LS411N_LARGE_INTESTINE | 191865800 | 191865889 | 191865874 | 191865874 | Missense_Mutation | T | C | p.I130V |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 191859787 | 191859945 | 191859870 | 191859870 | Nonsense_Mutation | G | T | p.Y287* |
| MZ1PC_PANCREAS | 191862943 | 191863034 | 191862993 | 191862993 | Nonsense_Mutation | C | A | p.E195* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAT1 |
| 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 STAT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAT1 |
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RelatedDrugs for STAT1 |
| 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 STAT1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STAT1 | C3279990 | CANDIDIASIS, FAMILIAL, 7 | 5 | ORPHANET;UNIPROT |
| STAT1 | C3151088 | IMMUNODEFICIENCY 31B | 3 | ORPHANET;UNIPROT |
| STAT1 | C4013950 | IMMUNODEFICIENCY 31A | 3 | ORPHANET;UNIPROT |
| STAT1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| STAT1 | C0006845 | Candidiasis, Chronic Mucocutaneous | 1 | CTD_human;HPO |
| STAT1 | C0010823 | Cytomegalovirus Infections | 1 | CTD_human |
| STAT1 | C0021400 | Influenza | 1 | CTD_human |
| STAT1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
| STAT1 | C0026918 | Mycobacterium Infections | 1 | CTD_human |
| STAT1 | C0993582 | Arthritis, Experimental | 1 | CTD_human |
| STAT1 | C1384666 | hearing impairment | 1 | CTD_human |
| STAT1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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