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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 CEP70 |
 Gene summary |
| Gene information | Gene symbol | CEP70 | Gene ID | 80321 |
| Gene name | centrosomal protein 70 | |
| Synonyms | BITE | |
| Cytomap | 3q22.3 | |
| Type of gene | protein-coding | |
| Description | centrosomal protein of 70 kDacentrosomal protein 70kDap10-binding proteintesticular tissue protein Li 36 | |
| Modification date | 20200327 | |
| 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 CEP70 |
| 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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ENSG00000114107
| 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 |
| CB | UP | ENST00000484888.5 | CEP70-211:protein_coding:CEP70 | 4.175156e+01 | 1.159979e+00 | 1.547825e-05 | 1.527276e-04 |
| CB | UP | ENST00000462419.5 | CEP70-204:protein_coding:CEP70 | 1.132247e+01 | 8.254021e-01 | 1.562970e-05 | 1.539944e-04 |
| CB | UP | ENST00000489254.5 | CEP70-213:protein_coding:CEP70 | 1.472015e+01 | 8.637031e-01 | 5.968032e-03 | 2.277057e-02 |
| TC | UP | ENST00000484888.5 | CEP70-211:protein_coding:CEP70 | 4.137793e+01 | 8.831451e-01 | 3.486877e-03 | 2.556732e-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 CEP70 |
| 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_103773 | chr3 | 138571266:138571356:138572859:138572914:138591854:138591956 | 138572859:138572914 |
| exon_skip_122917 | chr3 | 138591866:138591956:138592981:138593080:138594198:138594224 | 138592981:138593080 |
| exon_skip_145668 | chr3 | 138571266:138571356:138591854:138591956:138594198:138594224 | 138591854:138591956 |
| exon_skip_166237 | chr3 | 138500399:138500567:138500735:138500881:138505295:138505465 | 138500735:138500881 |
| exon_skip_186287 | chr3 | 138570435:138570498:138571034:138571157:138571266:138571353 | 138571034:138571157 |
| exon_skip_239365 | chr3 | 138537178:138537347:138570318:138570498:138571034:138571134 | 138570318:138570498 |
| exon_skip_266202 | chr3 | 138505295:138505465:138508439:138508544:138525490:138525564 | 138508439:138508544 |
| exon_skip_266603 | chr3 | 138496910:138497327:138498031:138498110:138500110:138500180 | 138498031:138498110 |
| exon_skip_3519 | chr3 | 138572859:138572984:138591854:138591956:138594198:138594224 | 138591854:138591956 |
| exon_skip_71466 | chr3 | 138532514:138532570:138537178:138537347:138570318:138570498 | 138537178:138537347 |
| exon_skip_82670 | chr3 | 138532514:138532570:138537178:138537347:138591854:138591956 | 138537178:138537347 |
| exon_skip_83262 | chr3 | 138495013:138495076:138498031:138498110:138500110:138500180 | 138498031:138498110 |
| exon_skip_85562 | chr3 | 138571266:138571356:138572859:138572984:138591854:138591956 | 138572859:138572984 |
| exon_skip_94745 | chr3 | 138571266:138571356:138572859:138572932:138591854:138591956 | 138572859:138572932 |
| 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 CEP70 |
| 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 |
| ENST00000264982 | 138572859 | 138572932 | 3UTR-3CDS |
| ENST00000484888 | 138572859 | 138572984 | 3UTR-3CDS |
| ENST00000484888 | 138591854 | 138591956 | 3UTR-3UTR |
| ENST00000264982 | 138498031 | 138498110 | Frame-shift |
| ENST00000484888 | 138498031 | 138498110 | Frame-shift |
| ENST00000264982 | 138508439 | 138508544 | Frame-shift |
| ENST00000484888 | 138508439 | 138508544 | Frame-shift |
| ENST00000264982 | 138537178 | 138537347 | Frame-shift |
| ENST00000484888 | 138537178 | 138537347 | Frame-shift |
| ENST00000264982 | 138570318 | 138570498 | Frame-shift |
| ENST00000484888 | 138570318 | 138570498 | Frame-shift |
| ENST00000264982 | 138571034 | 138571157 | Frame-shift |
| ENST00000484888 | 138571034 | 138571157 | Frame-shift |
| ENST00000264982 | 138500735 | 138500881 | In-frame |
| ENST00000484888 | 138500735 | 138500881 | 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 |
| ENST00000264982 | 138572859 | 138572932 | 3UTR-3CDS |
| ENST00000484888 | 138572859 | 138572984 | 3UTR-3CDS |
| ENST00000264982 | 138498031 | 138498110 | Frame-shift |
| ENST00000484888 | 138498031 | 138498110 | Frame-shift |
| ENST00000264982 | 138508439 | 138508544 | Frame-shift |
| ENST00000484888 | 138508439 | 138508544 | Frame-shift |
| ENST00000264982 | 138570318 | 138570498 | Frame-shift |
| ENST00000484888 | 138570318 | 138570498 | Frame-shift |
| ENST00000264982 | 138500735 | 138500881 | In-frame |
| ENST00000484888 | 138500735 | 138500881 | 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 |
| ENST00000264982 | 138572859 | 138572932 | 3UTR-3CDS |
| ENST00000484888 | 138572859 | 138572984 | 3UTR-3CDS |
| ENST00000484888 | 138591854 | 138591956 | 3UTR-3UTR |
| ENST00000264982 | 138498031 | 138498110 | Frame-shift |
| ENST00000484888 | 138498031 | 138498110 | Frame-shift |
| ENST00000264982 | 138537178 | 138537347 | Frame-shift |
| ENST00000484888 | 138537178 | 138537347 | Frame-shift |
| ENST00000264982 | 138570318 | 138570498 | Frame-shift |
| ENST00000484888 | 138570318 | 138570498 | Frame-shift |
| ENST00000264982 | 138500735 | 138500881 | In-frame |
| ENST00000484888 | 138500735 | 138500881 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CEP70 |
p-ENSG00000114107_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 |
| ENST00000264982 | 2749 | 597 | 138500735 | 138500881 | 1489 | 1634 | 407 | 455 |
| ENST00000484888 | 2010 | 597 | 138500735 | 138500881 | 1409 | 1554 | 407 | 455 |
| 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 |
| ENST00000264982 | 2749 | 597 | 138500735 | 138500881 | 1489 | 1634 | 407 | 455 |
| ENST00000484888 | 2010 | 597 | 138500735 | 138500881 | 1409 | 1554 | 407 | 455 |
| 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 |
| ENST00000264982 | 2749 | 597 | 138500735 | 138500881 | 1489 | 1634 | 407 | 455 |
| ENST00000484888 | 2010 | 597 | 138500735 | 138500881 | 1409 | 1554 | 407 | 455 |
| 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 |
| Q8NHQ1 | 407 | 455 | 213 | 597 | Alternative sequence | ID=VSP_012745;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NHQ1 | 407 | 455 | 213 | 597 | Alternative sequence | ID=VSP_012745;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NHQ1 | 407 | 455 | 1 | 597 | Chain | ID=PRO_0000089497;Note=Centrosomal protein of 70 kDa |
| Q8NHQ1 | 407 | 455 | 1 | 597 | Chain | ID=PRO_0000089497;Note=Centrosomal protein of 70 kDa |
| 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 |
| Q8NHQ1 | 407 | 455 | 213 | 597 | Alternative sequence | ID=VSP_012745;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NHQ1 | 407 | 455 | 213 | 597 | Alternative sequence | ID=VSP_012745;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NHQ1 | 407 | 455 | 1 | 597 | Chain | ID=PRO_0000089497;Note=Centrosomal protein of 70 kDa |
| Q8NHQ1 | 407 | 455 | 1 | 597 | Chain | ID=PRO_0000089497;Note=Centrosomal protein of 70 kDa |
| 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 |
| Q8NHQ1 | 407 | 455 | 213 | 597 | Alternative sequence | ID=VSP_012745;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NHQ1 | 407 | 455 | 213 | 597 | Alternative sequence | ID=VSP_012745;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8NHQ1 | 407 | 455 | 1 | 597 | Chain | ID=PRO_0000089497;Note=Centrosomal protein of 70 kDa |
| Q8NHQ1 | 407 | 455 | 1 | 597 | Chain | ID=PRO_0000089497;Note=Centrosomal protein of 70 kDa |
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3'-UTR located exon skipping events that lost miRNA binding sites in CEP70 |
| 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 | ENST00000484888 | 138591854 | 138591956 | hsa-miR-1262 | chr3:138591919-138591926 | 8mer-1a | chr3:138591902-138591926 | 151.00 | -13.07 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-6736-5p | chr3:138591919-138591926 | 8mer-1a | chr3:138591902-138591926 | 151.00 | -13.07 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-4701-3p | chr3:138591919-138591926 | 8mer-1a | chr3:138591902-138591926 | 151.00 | -13.07 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-17-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-20a-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-526b-3p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-519d-3p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-93-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-106b-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-20b-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| Mayo | ENST00000484888 | 138591854 | 138591956 | hsa-miR-106a-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-1262 | chr3:138591919-138591926 | 8mer-1a | chr3:138591902-138591926 | 151.00 | -13.07 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-6736-5p | chr3:138591919-138591926 | 8mer-1a | chr3:138591902-138591926 | 151.00 | -13.07 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-4701-3p | chr3:138591919-138591926 | 8mer-1a | chr3:138591902-138591926 | 151.00 | -13.07 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-17-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-20a-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-526b-3p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-519d-3p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-93-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-106b-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-20b-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
| ROSMAP | ENST00000484888 | 138591854 | 138591956 | hsa-miR-106a-5p | chr3:138591877-138591884 | 8mer-1a | chr3:138591870-138591891 | 151.00 | -19.25 |
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SNVs in the skipped exons for CEP70 |
| - 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 CEP70 |
| 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 CEP70 |
| 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 CEP70 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_239365 | -4.116342e-01 | 1.666161e-07 |
| CB | RBM6 | exon_skip_239365 | -5.195128e-01 | 9.628168e-12 |
| CB | CNOT4 | exon_skip_239365 | -5.017784e-01 | 6.101653e-11 |
| CB | TRA2A | exon_skip_239365 | -5.883375e-01 | 2.437600e-15 |
| CB | TARDBP | exon_skip_94745 | -4.827717e-01 | 2.014977e-09 |
| CB | CNOT4 | exon_skip_94745 | -4.395596e-01 | 6.897453e-08 |
| CB | PCBP4 | exon_skip_94745 | 4.116051e-01 | 5.291866e-07 |
| CB | FUBP1 | exon_skip_94745 | -4.697282e-01 | 6.166702e-09 |
| IFG | DAZAP1 | exon_skip_239365 | -4.713366e-01 | 1.307383e-02 |
| IFG | PABPN1L | exon_skip_239365 | -5.927059e-01 | 1.122817e-03 |
| IFG | RBM6 | exon_skip_239365 | -4.177197e-01 | 3.015438e-02 |
| IFG | SRSF11 | exon_skip_239365 | -4.012443e-01 | 3.804676e-02 |
| IFG | CNOT4 | exon_skip_239365 | -4.350808e-01 | 2.332334e-02 |
| IFG | RBM5 | exon_skip_239365 | -4.887698e-01 | 9.681251e-03 |
| IFG | IGF2BP3 | exon_skip_239365 | -4.948051e-01 | 8.693753e-03 |
| IFG | MBNL1 | exon_skip_239365 | -4.788159e-01 | 1.151408e-02 |
| IFG | RBM47 | exon_skip_239365 | -4.526631e-01 | 1.774637e-02 |
| IFG | RBM46 | exon_skip_239365 | -5.672126e-01 | 2.033125e-03 |
| IFG | TRA2A | exon_skip_239365 | -5.388824e-01 | 3.729041e-03 |
| IFG | SNRNP70 | exon_skip_239365 | -5.241232e-01 | 5.012949e-03 |
| IFG | PABPC5 | exon_skip_239365 | -5.929381e-01 | 1.116507e-03 |
| IFG | PABPC1 | exon_skip_239365 | -4.998297e-01 | 7.937380e-03 |
| IFG | SRSF1 | exon_skip_239365 | -6.895635e-01 | 6.927556e-05 |
| IFG | SRSF9 | exon_skip_239365 | -4.214523e-01 | 2.856416e-02 |
| IFG | TARDBP | exon_skip_94745 | -4.029603e-01 | 3.715495e-02 |
| IFG | ELAVL1 | exon_skip_94745 | -4.560510e-01 | 1.680946e-02 |
| IFG | CNOT4 | exon_skip_94745 | -4.046825e-01 | 3.627680e-02 |
| IFG | IGF2BP3 | exon_skip_94745 | -5.648168e-01 | 2.144595e-03 |
| IFG | PCBP2 | exon_skip_94745 | -5.821562e-01 | 1.443975e-03 |
| IFG | FUBP1 | exon_skip_94745 | -5.657984e-01 | 2.098308e-03 |
| IFG | ENOX1 | exon_skip_94745 | -4.585667e-01 | 1.614044e-02 |
| IFG | PABPC4 | exon_skip_94745 | -4.106445e-01 | 3.336412e-02 |
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RelatedDrugs for CEP70 |
| 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 CEP70 |
| 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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