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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 NAB1 |
 Gene summary |
| Gene information | Gene symbol | NAB1 | Gene ID | 4664 |
| Gene name | NGFI-A binding protein 1 | |
| Synonyms | - | |
| Cytomap | 2q32.2 | |
| Type of gene | protein-coding | |
| Description | NGFI-A-binding protein 1EGR-1-binding protein 1EGR1 binding protein 1transcriptional regulatory protein p54 | |
| Modification date | 20180523 | |
| UniProtAcc | Q13506 | |
| Context | PubMed: NAB1 [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 NAB1 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 NAB1 |
| 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 NAB1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_331946 | 2 | 191513623:191513697:191514556:191514708:191523883:191524088 | 191514556:191514708 | ENSG00000138386.12 | ENST00000426601.1 |
| exon_skip_331965 | 2 | 191513995:191514086:191514571:191514708:191520702:191520879 | 191514571:191514708 | ENSG00000138386.12 | ENST00000337386.5 |
| exon_skip_331976 | 2 | 191513995:191514086:191523883:191524721:191535051:191535185 | 191523883:191524721 | ENSG00000138386.12 | ENST00000409581.1,ENST00000357215.5 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENSG00000138386.12 | ENST00000337386.5 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENSG00000138386.12 | ENST00000423376.1 |
| exon_skip_331995 | 2 | 191535051:191535185:191537826:191537878:191548463:191548553 | 191537826:191537878 | ENSG00000138386.12 | ENST00000409581.1,ENST00000337386.5,ENST00000409641.1 |
| exon_skip_331996 | 2 | 191535051:191535185:191537826:191537878:191550201:191550364 | 191537826:191537878 | ENSG00000138386.12 | ENST00000545490.1,ENST00000434473.1 |
| exon_skip_331999 | 2 | 191537826:191537878:191548463:191548553:191550201:191550364 | 191548463:191548553 | ENSG00000138386.12 | ENST00000409581.1,ENST00000337386.5 |
| exon_skip_332000 | 2 | 191537826:191537878:191548463:191548553:191550204:191550364 | 191548463:191548553 | ENSG00000138386.12 | ENST00000409641.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NAB1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_331946 | 2 | 191513623:191513697:191514556:191514708:191523883:191524088 | 191514556:191514708 | ENSG00000138386.12 | ENST00000426601.1 |
| exon_skip_331965 | 2 | 191513995:191514086:191514571:191514708:191520702:191520879 | 191514571:191514708 | ENSG00000138386.12 | ENST00000337386.5 |
| exon_skip_331976 | 2 | 191513995:191514086:191523883:191524721:191535051:191535185 | 191523883:191524721 | ENSG00000138386.12 | ENST00000409581.1,ENST00000357215.5 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENSG00000138386.12 | ENST00000337386.5 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENSG00000138386.12 | ENST00000423376.1 |
| exon_skip_331993 | 2 | 191518456:191518506:191520702:191520885:191524002:191524311 | 191520702:191520885 | ENSG00000138386.12 | ENST00000423076.1 |
| exon_skip_331995 | 2 | 191535051:191535185:191537826:191537878:191548463:191548553 | 191537826:191537878 | ENSG00000138386.12 | ENST00000409581.1,ENST00000337386.5,ENST00000409641.1 |
| exon_skip_331996 | 2 | 191535051:191535185:191537826:191537878:191550201:191550364 | 191537826:191537878 | ENSG00000138386.12 | ENST00000434473.1,ENST00000545490.1 |
| exon_skip_331999 | 2 | 191537826:191537878:191548463:191548553:191550201:191550364 | 191548463:191548553 | ENSG00000138386.12 | ENST00000409581.1,ENST00000337386.5 |
| exon_skip_332000 | 2 | 191537826:191537878:191548463:191548553:191550204:191550364 | 191548463:191548553 | ENSG00000138386.12 | ENST00000409641.1 |
| 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 NAB1 |
| 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 |
| ENST00000409581 | 191523883 | 191524721 | 5CDS-5UTR |
| ENST00000337386 | 191514571 | 191514708 | 5UTR-5UTR |
| ENST00000337386 | 191520702 | 191520879 | 5UTR-5UTR |
| ENST00000337386 | 191537826 | 191537878 | Frame-shift |
| ENST00000409581 | 191537826 | 191537878 | Frame-shift |
| ENST00000337386 | 191548463 | 191548553 | In-frame |
| ENST00000409581 | 191548463 | 191548553 | 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 |
| ENST00000409581 | 191523883 | 191524721 | 5CDS-5UTR |
| ENST00000337386 | 191514571 | 191514708 | 5UTR-5UTR |
| ENST00000337386 | 191520702 | 191520879 | 5UTR-5UTR |
| ENST00000337386 | 191537826 | 191537878 | Frame-shift |
| ENST00000409581 | 191537826 | 191537878 | Frame-shift |
| ENST00000337386 | 191548463 | 191548553 | In-frame |
| ENST00000409581 | 191548463 | 191548553 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NAB1 |
| 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 |
| ENST00000337386 | 4375 | 487 | 191548463 | 191548553 | 1467 | 1556 | 335 | 365 |
| ENST00000409581 | 2377 | 487 | 191548463 | 191548553 | 1316 | 1405 | 335 | 365 |
| 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 |
| ENST00000337386 | 4375 | 487 | 191548463 | 191548553 | 1467 | 1556 | 335 | 365 |
| ENST00000409581 | 2377 | 487 | 191548463 | 191548553 | 1316 | 1405 | 335 | 365 |
| 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 |
| Q13506 | 335 | 365 | 336 | 364 | Alternative sequence | ID=VSP_003384;Note=In isoform Short. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q13506 | 335 | 365 | 336 | 364 | Alternative sequence | ID=VSP_003384;Note=In isoform Short. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q13506 | 335 | 365 | 1 | 486 | Chain | ID=PRO_0000077038;Note=NGFI-A-binding protein 1 |
| Q13506 | 335 | 365 | 1 | 486 | Chain | ID=PRO_0000077038;Note=NGFI-A-binding protein 1 |
| Q13506 | 335 | 365 | 355 | 355 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
| Q13506 | 335 | 365 | 355 | 355 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
| Q13506 | 335 | 365 | 307 | 338 | Region | Note=Necessary for nuclear localization;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13506 | 335 | 365 | 307 | 338 | Region | Note=Necessary for nuclear localization;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q13506 | 335 | 365 | 336 | 364 | Alternative sequence | ID=VSP_003384;Note=In isoform Short. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q13506 | 335 | 365 | 336 | 364 | Alternative sequence | ID=VSP_003384;Note=In isoform Short. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q13506 | 335 | 365 | 1 | 486 | Chain | ID=PRO_0000077038;Note=NGFI-A-binding protein 1 |
| Q13506 | 335 | 365 | 1 | 486 | Chain | ID=PRO_0000077038;Note=NGFI-A-binding protein 1 |
| Q13506 | 335 | 365 | 355 | 355 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
| Q13506 | 335 | 365 | 355 | 355 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25218447,ECO:0000244|PubMed:28112733;Dbxref=PMID:25218447,PMID:28112733 |
| Q13506 | 335 | 365 | 307 | 338 | Region | Note=Necessary for nuclear localization;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q13506 | 335 | 365 | 307 | 338 | Region | Note=Necessary for nuclear localization;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for NAB1 |
| - 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_331976 | 191523884 | 191524721 | 191523929 | 191523929 | Frame_Shift_Del | G | - | p.L9fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_331976 | 191523884 | 191524721 | 191524267 | 191524267 | Frame_Shift_Del | A | - | p.E122fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_331976 | 191523884 | 191524721 | 191524277 | 191524277 | Frame_Shift_Del | A | - | p.L125fs |
| BRCA | TCGA-B6-A0RM-01 | exon_skip_331976 | 191523884 | 191524721 | 191524294 | 191524294 | Frame_Shift_Del | C | - | p.A131fs |
| COAD | TCGA-AD-6895-01 | exon_skip_331976 | 191523884 | 191524721 | 191524441 | 191524441 | Frame_Shift_Del | C | - | p.S180fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_331976 | 191523884 | 191524721 | 191524535 | 191524535 | Frame_Shift_Del | A | - | p.P211fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_331976 | 191523884 | 191524721 | 191524590 | 191524590 | Frame_Shift_Del | A | - | p.K230fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_331976 | 191523884 | 191524721 | 191524046 | 191524047 | Frame_Shift_Ins | - | T | p.DF48fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_331976 | 191523884 | 191524721 | 191524046 | 191524047 | Frame_Shift_Ins | - | T | p.E48fs |
| - 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 |
| HCT15_LARGE_INTESTINE | 191523884 | 191524721 | 191524540 | 191524540 | Frame_Shift_Del | G | - | p.S213fs |
| TT_OESOPHAGUS | 191523884 | 191524721 | 191523946 | 191523946 | Missense_Mutation | A | G | p.Y15C |
| NCIH1793_LUNG | 191523884 | 191524721 | 191523998 | 191523998 | Missense_Mutation | A | T | p.Q32H |
| NCIH727_LUNG | 191523884 | 191524721 | 191524056 | 191524056 | Missense_Mutation | A | T | p.I52F |
| ESO51_OESOPHAGUS | 191523884 | 191524721 | 191524059 | 191524059 | Missense_Mutation | A | T | p.M53L |
| OVK18_OVARY | 191523884 | 191524721 | 191524086 | 191524086 | Missense_Mutation | C | T | p.P62S |
| KPNRTBM1_AUTONOMIC_GANGLIA | 191523884 | 191524721 | 191524150 | 191524150 | Missense_Mutation | A | G | p.N83S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 191523884 | 191524721 | 191524237 | 191524237 | Missense_Mutation | G | A | p.S112N |
| C4I_CERVIX | 191523884 | 191524721 | 191524410 | 191524410 | Missense_Mutation | G | A | p.E170K |
| KYSE220_OESOPHAGUS | 191523884 | 191524721 | 191524460 | 191524460 | Missense_Mutation | G | C | p.E186D |
| TOV21G_OVARY | 191523884 | 191524721 | 191524489 | 191524489 | Missense_Mutation | C | T | p.A196V |
| HCC2998_LARGE_INTESTINE | 191523884 | 191524721 | 191524546 | 191524546 | Missense_Mutation | T | C | p.L215S |
| WM1799_SKIN | 191548464 | 191548553 | 191548523 | 191548523 | Missense_Mutation | G | C | p.K355N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NAB1 |
| 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 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | ESCA | rs2293765 | chr2:191520845 | C/A | 1.19e-14 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | LUAD | rs2293765 | chr2:191520845 | C/A | 1.29e-04 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | LUAD | rs2293765 | chr2:191520845 | C/A | 3.82e-04 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | LUSC | rs2293765 | chr2:191520845 | C/A | 5.39e-06 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | LUSC | rs2293765 | chr2:191520845 | C/A | 3.08e-05 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | THCA | rs2293765 | chr2:191520845 | C/A | 3.71e-08 |
| exon_skip_331985 | 2 | 191514571:191514708:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000337386.5 | THCA | rs2293765 | chr2:191520845 | C/A | 4.19e-08 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | ESCA | rs2293765 | chr2:191520845 | C/A | 1.19e-14 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | LUAD | rs2293765 | chr2:191520845 | C/A | 1.29e-04 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | LUAD | rs2293765 | chr2:191520845 | C/A | 3.82e-04 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | LUSC | rs2293765 | chr2:191520845 | C/A | 5.39e-06 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | LUSC | rs2293765 | chr2:191520845 | C/A | 3.08e-05 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | THCA | rs2293765 | chr2:191520845 | C/A | 3.71e-08 |
| exon_skip_331990 | 2 | 191518456:191518506:191520702:191520879:191523883:191524088 | 191520702:191520879 | ENST00000423376.1 | THCA | rs2293765 | chr2:191520845 | C/A | 4.19e-08 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAB1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NAB1 |
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RelatedDrugs for NAB1 |
| 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 NAB1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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