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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 CIZ1 |
 Gene summary |
| Gene information | Gene symbol | CIZ1 | Gene ID | 25792 |
| Gene name | CDKN1A interacting zinc finger protein 1 | |
| Synonyms | LSFR1|NP94|ZNF356 | |
| Cytomap | 9q34.11 | |
| Type of gene | protein-coding | |
| Description | cip1-interacting zinc finger proteinnuclear protein NP94zinc finger protein 356 | |
| Modification date | 20200313 | |
| 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 |
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Gene structures and expression levels for CIZ1 |
| 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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ENSG00000148337
| 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 |
| DLPFC | UP | ENST00000372954.5 | CIZ1-206:protein_coding:CIZ1 | 4.190666e+01 | 1.146945e+00 | 4.899620e-04 | 2.095504e-02 |
| PCC | UP | ENST00000372954.5 | CIZ1-206:protein_coding:CIZ1 | 5.575779e+01 | 1.211481e+00 | 3.959331e-05 | 3.279626e-03 |
| PG | UP | ENST00000372954.5 | CIZ1-206:protein_coding:CIZ1 | 3.876954e+00 | 4.680213e+00 | 6.831200e-05 | 2.073746e-03 |
| CB | UP | ENST00000372954.5 | CIZ1-206:protein_coding:CIZ1 | 1.479701e+02 | 1.867896e+00 | 9.243033e-07 | 1.401620e-05 |
| CB | DOWN | ENST00000471839.5 | CIZ1-213:protein_coding:CIZ1 | 1.668326e+01 | -1.489588e+00 | 3.940551e-05 | 3.360968e-04 |
| CB | UP | ENST00000498156.5 | CIZ1-224:lncRNA:CIZ1 | 2.666954e+00 | 1.597329e+00 | 1.029929e-03 | 5.294716e-03 |
| 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 CIZ1 |
| 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_109422 | chr9 | 128161251:128162947:128166257:128166406:128166759:128166880 | 128166257:128166406 |
| exon_skip_134287 | chr9 | 128187863:128187934:128190329:128190444:128190688:128190710 | 128190329:128190444 |
| exon_skip_139260 | chr9 | 128185547:128185776:128190329:128190444:128190688:128190858 | 128190329:128190444 |
| exon_skip_14043 | chr9 | 128199920:128200184:128202764:128202936:128204186:128204222 | 128202764:128202936 |
| exon_skip_141170 | chr9 | 128185547:128185776:128190329:128190444:128190688:128190808 | 128190329:128190444 |
| exon_skip_144002 | chr9 | 128169406:128169519:128169623:128169700:128170020:128170107 | 128169623:128169700 |
| exon_skip_147793 | chr9 | 128178369:128178490:128178709:128178904:128179244:128179415 | 128178709:128178904 |
| exon_skip_147854 | chr9 | 128180448:128180523:128180721:128180814:128185547:128185734 | 128180721:128180814 |
| exon_skip_153826 | chr9 | 128177588:128177763:128178369:128178490:128178709:128178904 | 128178369:128178490 |
| exon_skip_157082 | chr9 | 128178709:128178904:128178989:128179415:128180415:128180523 | 128178989:128179415 |
| exon_skip_158049 | chr9 | 128187863:128187934:128190329:128190444:128190688:128190862 | 128190329:128190444 |
| exon_skip_175033 | chr9 | 128166759:128166880:128167095:128167164:128169052:128169081 | 128167095:128167164 |
| exon_skip_182608 | chr9 | 128180448:128180523:128180721:128180799:128185547:128185734 | 128180721:128180799 |
| exon_skip_187904 | chr9 | 128180799:128180814:128185547:128185776:128187863:128187934 | 128185547:128185776 |
| exon_skip_199830 | chr9 | 128178369:128178490:128178709:128178904:128179073:128179415 | 128178709:128178904 |
| exon_skip_21620 | chr9 | 128178709:128178904:128179073:128179415:128180415:128180523 | 128179073:128179415 |
| exon_skip_220585 | chr9 | 128180799:128180814:128185547:128185776:128190329:128190356 | 128185547:128185776 |
| exon_skip_238153 | chr9 | 128169406:128169519:128169623:128169700:128170020:128170035 | 128169623:128169700 |
| exon_skip_239356 | chr9 | 128166759:128166880:128167095:128167164:128169052:128169103 | 128167095:128167164 |
| exon_skip_239762 | chr9 | 128180448:128180523:128180721:128180814:128185547:128185592 | 128180721:128180814 |
| exon_skip_250883 | chr9 | 128185629:128185776:128190329:128190444:128190688:128190710 | 128190329:128190444 |
| exon_skip_2636 | chr9 | 128169406:128169519:128170020:128170107:128176351:128176475 | 128170020:128170107 |
| exon_skip_276948 | chr9 | 128185629:128185776:128187863:128187934:128190329:128190356 | 128187863:128187934 |
| exon_skip_284290 | chr9 | 128180448:128180523:128180721:128180799:128185547:128185592 | 128180721:128180799 |
| exon_skip_286644 | chr9 | 128185547:128185776:128187863:128187934:128190688:128190808 | 128187863:128187934 |
| exon_skip_39767 | chr9 | 128198311:128198367:128199920:128200184:128202764:128202936 | 128199920:128200184 |
| exon_skip_41 | chr9 | 128185629:128185776:128187863:128187934:128190688:128190862 | 128187863:128187934 |
| exon_skip_41709 | chr9 | 128180448:128180523:128180721:128180799:128185547:128185675 | 128180721:128180799 |
| exon_skip_59964 | chr9 | 128185629:128185776:128187863:128187934:128190688:128190710 | 128187863:128187934 |
| exon_skip_73906 | chr9 | 128177588:128177763:128178369:128178490:128178709:128178796 | 128178369:128178490 |
| exon_skip_77411 | chr9 | 128178709:128178904:128179244:128179415:128180415:128180523 | 128179244:128179415 |
| exon_skip_86418 | chr9 | 128180448:128180523:128180721:128180814:128185547:128185675 | 128180721:128180814 |
| exon_skip_91352 | chr9 | 128177588:128177763:128178369:128178490:128178709:128178892 | 128178369:128178490 |
| 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 CIZ1 |
| 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 |
| ENST00000372938 | 128167095 | 128167164 | Frame-shift |
| ENST00000634901 | 128167095 | 128167164 | Frame-shift |
| ENST00000372938 | 128178369 | 128178490 | Frame-shift |
| ENST00000634901 | 128178369 | 128178490 | Frame-shift |
| ENST00000372938 | 128180721 | 128180814 | Frame-shift |
| ENST00000634901 | 128180721 | 128180814 | Frame-shift |
| ENST00000372938 | 128190329 | 128190444 | Frame-shift |
| ENST00000634901 | 128190329 | 128190444 | Frame-shift |
| ENST00000372938 | 128187863 | 128187934 | In-frame |
| ENST00000634901 | 128187863 | 128187934 | In-frame |
| 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 |
| ENST00000372938 | 128178369 | 128178490 | Frame-shift |
| ENST00000634901 | 128178369 | 128178490 | Frame-shift |
| ENST00000372938 | 128190329 | 128190444 | Frame-shift |
| ENST00000634901 | 128190329 | 128190444 | Frame-shift |
| ENST00000372938 | 128187863 | 128187934 | In-frame |
| ENST00000634901 | 128187863 | 128187934 | In-frame |
| 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 |
| ENST00000634901 | 128199920 | 128200184 | 3UTR-3UTR |
| ENST00000372938 | 128167095 | 128167164 | Frame-shift |
| ENST00000634901 | 128167095 | 128167164 | Frame-shift |
| ENST00000372938 | 128170020 | 128170107 | Frame-shift |
| ENST00000634901 | 128170020 | 128170107 | Frame-shift |
| ENST00000372938 | 128178369 | 128178490 | Frame-shift |
| ENST00000634901 | 128178369 | 128178490 | Frame-shift |
| ENST00000372938 | 128180721 | 128180814 | Frame-shift |
| ENST00000634901 | 128180721 | 128180814 | Frame-shift |
| ENST00000372938 | 128185547 | 128185776 | Frame-shift |
| ENST00000634901 | 128185547 | 128185776 | Frame-shift |
| ENST00000372938 | 128190329 | 128190444 | Frame-shift |
| ENST00000634901 | 128190329 | 128190444 | Frame-shift |
| ENST00000372938 | 128187863 | 128187934 | In-frame |
| ENST00000634901 | 128187863 | 128187934 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CIZ1 |
p-ENSG00000148337_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 |
| ENST00000372938 | 3001 | 898 | 128187863 | 128187934 | 450 | 520 | 95 | 119 |
| ENST00000634901 | 3479 | 898 | 128187863 | 128187934 | 944 | 1014 | 95 | 119 |
| 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 |
| ENST00000372938 | 3001 | 898 | 128187863 | 128187934 | 450 | 520 | 95 | 119 |
| ENST00000634901 | 3479 | 898 | 128187863 | 128187934 | 944 | 1014 | 95 | 119 |
| 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 |
| ENST00000372938 | 3001 | 898 | 128187863 | 128187934 | 450 | 520 | 95 | 119 |
| ENST00000634901 | 3479 | 898 | 128187863 | 128187934 | 944 | 1014 | 95 | 119 |
| 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 |
| Q9ULV3 | 95 | 119 | 1 | 101 | Alternative sequence | ID=VSP_044729;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULV3 | 95 | 119 | 1 | 101 | Alternative sequence | ID=VSP_044729;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULV3 | 95 | 119 | 97 | 120 | Alternative sequence | ID=VSP_004164;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12824700,ECO:0000303|PubMed:15489334;Dbxref=PMID:12824700,PMID:15489334 |
| Q9ULV3 | 95 | 119 | 97 | 120 | Alternative sequence | ID=VSP_004164;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12824700,ECO:0000303|PubMed:15489334;Dbxref=PMID:12824700,PMID:15489334 |
| Q9ULV3 | 95 | 119 | 1 | 898 | Chain | ID=PRO_0000089776;Note=Cip1-interacting zinc finger protein |
| Q9ULV3 | 95 | 119 | 1 | 898 | Chain | ID=PRO_0000089776;Note=Cip1-interacting zinc finger protein |
| Q9ULV3 | 95 | 119 | 101 | 101 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9ULV3 | 95 | 119 | 101 | 101 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9ULV3 | 95 | 119 | 1 | 101 | Alternative sequence | ID=VSP_044729;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULV3 | 95 | 119 | 1 | 101 | Alternative sequence | ID=VSP_044729;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULV3 | 95 | 119 | 97 | 120 | Alternative sequence | ID=VSP_004164;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12824700,ECO:0000303|PubMed:15489334;Dbxref=PMID:12824700,PMID:15489334 |
| Q9ULV3 | 95 | 119 | 97 | 120 | Alternative sequence | ID=VSP_004164;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12824700,ECO:0000303|PubMed:15489334;Dbxref=PMID:12824700,PMID:15489334 |
| Q9ULV3 | 95 | 119 | 1 | 898 | Chain | ID=PRO_0000089776;Note=Cip1-interacting zinc finger protein |
| Q9ULV3 | 95 | 119 | 1 | 898 | Chain | ID=PRO_0000089776;Note=Cip1-interacting zinc finger protein |
| Q9ULV3 | 95 | 119 | 101 | 101 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9ULV3 | 95 | 119 | 101 | 101 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9ULV3 | 95 | 119 | 1 | 101 | Alternative sequence | ID=VSP_044729;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULV3 | 95 | 119 | 1 | 101 | Alternative sequence | ID=VSP_044729;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9ULV3 | 95 | 119 | 97 | 120 | Alternative sequence | ID=VSP_004164;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12824700,ECO:0000303|PubMed:15489334;Dbxref=PMID:12824700,PMID:15489334 |
| Q9ULV3 | 95 | 119 | 97 | 120 | Alternative sequence | ID=VSP_004164;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:12824700,ECO:0000303|PubMed:15489334;Dbxref=PMID:12824700,PMID:15489334 |
| Q9ULV3 | 95 | 119 | 1 | 898 | Chain | ID=PRO_0000089776;Note=Cip1-interacting zinc finger protein |
| Q9ULV3 | 95 | 119 | 1 | 898 | Chain | ID=PRO_0000089776;Note=Cip1-interacting zinc finger protein |
| Q9ULV3 | 95 | 119 | 101 | 101 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9ULV3 | 95 | 119 | 101 | 101 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CIZ1 |
| 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 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-4695-5p | chr9:128200042-128200049 | 8mer-1a | chr9:128200035-128200050 | 154.00 | -23.48 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-4253 | chr9:128199943-128199950 | 8mer-1a | chr9:128199929-128199952 | 149.00 | -28.83 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-1266-5p | chr9:128200087-128200094 | 8mer-1a | chr9:128200073-128200094 | 151.00 | -24.47 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-4717-3p | chr9:128200114-128200121 | 8mer-1a | chr9:128200108-128200129 | 161.00 | -20.42 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-6862-5p | chr9:128199943-128199950 | 8mer-1a | chr9:128199929-128199952 | 149.00 | -28.83 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-4518 | chr9:128200087-128200094 | 8mer-1a | chr9:128200073-128200094 | 151.00 | -24.47 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-4999-5p | chr9:128200149-128200156 | 8mer-1a | chr9:128200143-128200165 | 155.00 | -10.75 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-4266 | chr9:128200043-128200050 | 8mer-1a | chr9:128200035-128200050 | 154.00 | -23.48 |
| Mayo | ENST00000634901 | 128199920 | 128200184 | hsa-miR-3918 | chr9:128200085-128200092 | 8mer-1a | chr9:128200070-128200092 | 144.00 | -37.02 |
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SNVs in the skipped exons for CIZ1 |
| - 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 CIZ1 |
| 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 CIZ1 |
| 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 CIZ1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for CIZ1 |
| 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 CIZ1 |
| 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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