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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 NFX1 |
 Gene summary |
| Gene information | Gene symbol | NFX1 | Gene ID | 4799 |
| Gene name | nuclear transcription factor, X-box binding 1 | |
| Synonyms | NFX2|TEG-42|Tex42 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | transcriptional repressor NF-X1nuclear transcription factor, X box-binding protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q12986 | |
| Context | PubMed: NFX1 [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 |
| NFX1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 7964459 |
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Exon skipping events across known transcript of Ensembl for NFX1 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 NFX1 |
| 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 NFX1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495403 | 9 | 33290542:33290595:33294417:33295425:33301260:33301419 | 33294417:33295425 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6 |
| exon_skip_495405 | 9 | 33303188:33303266:33307191:33307297:33311103:33311175 | 33307191:33307297 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6,ENST00000379540.3 |
| exon_skip_495406 | 9 | 33307191:33307297:33311103:33311175:33313651:33313791 | 33311103:33311175 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6,ENST00000379540.3 |
| exon_skip_495407 | 9 | 33311103:33311175:33313651:33313791:33318728:33318828 | 33313651:33313791 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6,ENST00000379540.3 |
| exon_skip_495408 | 9 | 33319018:33319125:33328578:33328676:33332469:33332500 | 33328578:33328676 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6,ENST00000379540.3,ENST00000466359.1 |
| exon_skip_495412 | 9 | 33332469:33332500:33338507:33338587:33342743:33342852 | 33338507:33338587 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6,ENST00000379540.3 |
| exon_skip_495418 | 9 | 33351557:33351788:33352643:33352717:33354083:33354185 | 33352643:33352717 | ENSG00000086102.14 | ENST00000379521.4,ENST00000379540.3 |
| exon_skip_495420 | 9 | 33352643:33352717:33354083:33354185:33354848:33354890 | 33354083:33354185 | ENSG00000086102.14 | ENST00000379521.4,ENST00000379540.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NFX1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495403 | 9 | 33290542:33290595:33294417:33295425:33301260:33301419 | 33294417:33295425 | ENSG00000086102.14 | ENST00000379521.4,ENST00000318524.6 |
| exon_skip_495405 | 9 | 33303188:33303266:33307191:33307297:33311103:33311175 | 33307191:33307297 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4,ENST00000318524.6 |
| exon_skip_495406 | 9 | 33307191:33307297:33311103:33311175:33313651:33313791 | 33311103:33311175 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4,ENST00000318524.6 |
| exon_skip_495407 | 9 | 33311103:33311175:33313651:33313791:33318728:33318828 | 33313651:33313791 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4,ENST00000318524.6 |
| exon_skip_495408 | 9 | 33319018:33319125:33328578:33328676:33332469:33332500 | 33328578:33328676 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4,ENST00000318524.6,ENST00000466359.1 |
| exon_skip_495412 | 9 | 33332469:33332500:33338507:33338587:33342743:33342852 | 33338507:33338587 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4,ENST00000318524.6 |
| exon_skip_495418 | 9 | 33351557:33351788:33352643:33352717:33354083:33354185 | 33352643:33352717 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4 |
| exon_skip_495420 | 9 | 33352643:33352717:33354083:33354185:33354848:33354890 | 33354083:33354185 | ENSG00000086102.14 | ENST00000379540.3,ENST00000379521.4 |
| 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 NFX1 |
| 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 |
| ENST00000379540 | 33307191 | 33307297 | Frame-shift |
| ENST00000379540 | 33313651 | 33313791 | Frame-shift |
| ENST00000379540 | 33328578 | 33328676 | Frame-shift |
| ENST00000379540 | 33338507 | 33338587 | Frame-shift |
| ENST00000379540 | 33352643 | 33352717 | Frame-shift |
| ENST00000379540 | 33311103 | 33311175 | In-frame |
| ENST00000379540 | 33354083 | 33354185 | 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 |
| ENST00000379540 | 33307191 | 33307297 | Frame-shift |
| ENST00000379540 | 33313651 | 33313791 | Frame-shift |
| ENST00000379540 | 33328578 | 33328676 | Frame-shift |
| ENST00000379540 | 33338507 | 33338587 | Frame-shift |
| ENST00000379540 | 33352643 | 33352717 | Frame-shift |
| ENST00000379540 | 33311103 | 33311175 | In-frame |
| ENST00000379540 | 33354083 | 33354185 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NFX1 |
| 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 |
| ENST00000379540 | 4621 | 1120 | 33311103 | 33311175 | 1439 | 1510 | 459 | 482 |
| ENST00000379540 | 4621 | 1120 | 33354083 | 33354185 | 2792 | 2893 | 910 | 943 |
| 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 |
| ENST00000379540 | 4621 | 1120 | 33311103 | 33311175 | 1439 | 1510 | 459 | 482 |
| ENST00000379540 | 4621 | 1120 | 33354083 | 33354185 | 2792 | 2893 | 910 | 943 |
| 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 |
| Q12986 | 459 | 482 | 1 | 1120 | Chain | ID=PRO_0000055979;Note=Transcriptional repressor NF-X1 |
| Q12986 | 459 | 482 | 453 | 471 | Zinc finger | Note=NF-X1-type 1 |
| Q12986 | 910 | 943 | 834 | 1120 | Alternative sequence | ID=VSP_033683;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q12986 | 910 | 943 | 1 | 1120 | Chain | ID=PRO_0000055979;Note=Transcriptional repressor NF-X1 |
| 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 |
| Q12986 | 459 | 482 | 1 | 1120 | Chain | ID=PRO_0000055979;Note=Transcriptional repressor NF-X1 |
| Q12986 | 459 | 482 | 453 | 471 | Zinc finger | Note=NF-X1-type 1 |
| Q12986 | 910 | 943 | 834 | 1120 | Alternative sequence | ID=VSP_033683;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q12986 | 910 | 943 | 1 | 1120 | Chain | ID=PRO_0000055979;Note=Transcriptional repressor NF-X1 |
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SNVs in the skipped exons for NFX1 |
| - 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 |
| STAD | TCGA-CG-5721-01 | exon_skip_495403 | 33294418 | 33295425 | 33294465 | 33294465 | Frame_Shift_Del | A | - | p.E24fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_495403 | 33294418 | 33295425 | 33294897 | 33294897 | Frame_Shift_Del | A | - | p.K170fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_495403 | 33294418 | 33295425 | 33294897 | 33294897 | Frame_Shift_Del | A | - | p.P168fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495408 | 33328579 | 33328676 | 33328664 | 33328664 | Frame_Shift_Del | T | - | p.S664fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_495412 | 33338508 | 33338587 | 33338547 | 33338547 | Frame_Shift_Del | G | - | p.R692fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495420 | 33354084 | 33354185 | 33354163 | 33354163 | Frame_Shift_Del | A | - | p.K938fs |
| LIHC | TCGA-G3-A5SI-01 | exon_skip_495403 | 33294418 | 33295425 | 33295194 | 33295194 | Nonsense_Mutation | C | T | p.R268* |
| LIHC | TCGA-G3-A5SI-01 | exon_skip_495403 | 33294418 | 33295425 | 33295194 | 33295194 | Nonsense_Mutation | C | T | p.R268X |
| LGG | TCGA-DU-6392-01 | exon_skip_495403 | 33294418 | 33295425 | 33295380 | 33295380 | Nonsense_Mutation | C | T | p.R330* |
| ESCA | TCGA-JY-A93C-01 | exon_skip_495406 | 33311104 | 33311175 | 33311168 | 33311168 | Nonsense_Mutation | C | T | p.R481* |
| ESCA | TCGA-JY-A93C-01 | exon_skip_495406 | 33311104 | 33311175 | 33311168 | 33311168 | Nonsense_Mutation | C | T | p.R481X |
| - 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 |
| SNU1040_LARGE_INTESTINE | 33313652 | 33313791 | 33313751 | 33313752 | Frame_Shift_Ins | - | G | p.G517fs |
| HT115_LARGE_INTESTINE | 33294418 | 33295425 | 33294427 | 33294427 | Missense_Mutation | A | C | p.K12T |
| MDAMB453_BREAST | 33294418 | 33295425 | 33294431 | 33294431 | Missense_Mutation | C | G | p.F13L |
| MCC26_SKIN | 33294418 | 33295425 | 33294582 | 33294582 | Missense_Mutation | G | A | p.E64K |
| SNU520_STOMACH | 33294418 | 33295425 | 33294836 | 33294836 | Missense_Mutation | G | C | p.E148D |
| SNU410_PANCREAS | 33294418 | 33295425 | 33294876 | 33294876 | Missense_Mutation | G | C | p.D162H |
| NCIH854_LUNG | 33294418 | 33295425 | 33295149 | 33295149 | Missense_Mutation | G | A | p.A253T |
| NCIH748_LUNG | 33294418 | 33295425 | 33295305 | 33295305 | Missense_Mutation | A | C | p.K305Q |
| HT3_CERVIX | 33294418 | 33295425 | 33295329 | 33295329 | Missense_Mutation | G | C | p.E313Q |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33311104 | 33311175 | 33311133 | 33311133 | Missense_Mutation | G | A | p.C469Y |
| K2_SKIN | 33311104 | 33311175 | 33311135 | 33311135 | Missense_Mutation | C | T | p.P470S |
| HCC1438_LUNG | 33313652 | 33313791 | 33313663 | 33313663 | Missense_Mutation | G | T | p.R487L |
| LCLC97TM1_LUNG | 33313652 | 33313791 | 33313717 | 33313717 | Missense_Mutation | A | G | p.N505S |
| LS411N_LARGE_INTESTINE | 33313652 | 33313791 | 33313738 | 33313738 | Missense_Mutation | C | T | p.A512V |
| MDAMB361_BREAST | 33313652 | 33313791 | 33313775 | 33313775 | Missense_Mutation | G | C | p.Q524H |
| HT55_LARGE_INTESTINE | 33313652 | 33313791 | 33313776 | 33313776 | Missense_Mutation | A | C | p.I525L |
| HEC151_ENDOMETRIUM | 33328579 | 33328676 | 33328587 | 33328587 | Missense_Mutation | C | A | p.H639N |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33338508 | 33338587 | 33338523 | 33338523 | Missense_Mutation | G | A | p.C684Y |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 33338508 | 33338587 | 33338531 | 33338531 | Missense_Mutation | C | T | p.R687W |
| CHAGOK1_LUNG | 33338508 | 33338587 | 33338573 | 33338573 | Missense_Mutation | G | C | p.E701Q |
| VMCUB1_URINARY_TRACT | 33338508 | 33338587 | 33338573 | 33338573 | Missense_Mutation | G | C | p.E701Q |
| SNU1040_LARGE_INTESTINE | 33352644 | 33352717 | 33352663 | 33352663 | Missense_Mutation | G | A | p.C892Y |
| TGW_AUTONOMIC_GANGLIA | 33354084 | 33354185 | 33354144 | 33354144 | Missense_Mutation | G | T | p.E930D |
| C4I_CERVIX | 33313652 | 33313791 | 33313671 | 33313671 | Nonsense_Mutation | C | T | p.Q490* |
| C4I_CERVIX | 33313652 | 33313791 | 33313681 | 33313681 | Nonsense_Mutation | C | G | p.S493* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 33294418 | 33295425 | 33294419 | 33294419 | Splice_Site | T | C | p.G9G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFX1 |
| 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 NFX1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NFX1 |
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RelatedDrugs for NFX1 |
| 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 NFX1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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