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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for CIITA |
 Gene summary |
| Gene information | Gene symbol | CIITA | Gene ID | 4261 |
| Gene name | class II major histocompatibility complex transactivator | |
| Synonyms | C2TA|CIITAIV|MHC2TA|NLRA | |
| Cytomap | 16p13.13 | |
| Type of gene | protein-coding | |
| Description | MHC class II transactivatorMHC class II transactivator type IMHC class II transactivator type IIINLR family, acid domain containingnucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| CIITA | GO:0034341 | response to interferon-gamma | 19041327 |
| CIITA | GO:0045345 | positive regulation of MHC class I biosynthetic process | 20639463 |
| CIITA | GO:0045892 | negative regulation of transcription, DNA-templated | 19041327 |
| CIITA | GO:0045893 | positive regulation of transcription, DNA-templated | 19041327 |
| CIITA | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20639463 |
| CIITA | GO:0046677 | response to antibiotic | 107465 |
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Gene structures and expression levels for CIITA |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000179583
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PCC | UP | ENST00000646979.1 | CIITA-218:protein_coding:CIITA | 2.527674e+00 | 1.443733e+00 | 7.689449e-04 | 2.161072e-02 |
| PG | UP | ENST00000637439.1 | CIITA-216:protein_coding:CIITA | 3.480694e+00 | 1.113628e+00 | 6.714531e-06 | 3.732982e-04 |
| PG | UP | ENST00000646979.1 | CIITA-218:protein_coding:CIITA | 2.944530e+00 | 1.450658e+00 | 2.874470e-03 | 3.087155e-02 |
| PG | UP | ENST00000571186.5 | CIITA-205:nonsense_mediated_decay:CIITA | 1.227976e+00 | 1.147150e+00 | 4.202772e-03 | 4.045411e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CIITA |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_152034 | chr16 | 10904744:10904812:10906499:10909187:10910188:10910243 | 10906499:10909187 |
| exon_skip_210218 | chr16 | 10895282:10895428:10895669:10895764:10898670:10898732 | 10895669:10895764 |
| exon_skip_25823 | chr16 | 10901514:10901558:10901798:10902184:10902658:10902801 | 10901798:10902184 |
| exon_skip_39926 | chr16 | 10901514:10901558:10902038:10902184:10902658:10902801 | 10902038:10902184 |
| exon_skip_50943 | chr16 | 10901514:10901558:10901798:10902184:10902658:10902722 | 10901798:10902184 |
| exon_skip_70823 | chr16 | 10915646:10915650:10916367:10916459:10918440:10918526 | 10916367:10916459 |
| exon_skip_71783 | chr16 | 10895286:10895428:10895669:10895764:10898670:10898732 | 10895669:10895764 |
| exon_skip_81834 | chr16 | 10901514:10901558:10902038:10902184:10902658:10902722 | 10902038:10902184 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CIITA |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
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Infer the effects of exon skipping event on protein functional features for CIITA |
p-ENSG00000179583_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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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3'-UTR located exon skipping events that lost miRNA binding sites in CIITA |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CIITA |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CIITA |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CIITA |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CIITA |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CIITA |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CIITA |
| 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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