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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 CMC2 |
 Gene summary |
| Gene information | Gene symbol | CMC2 | Gene ID | 56942 |
| Gene name | C-X9-C motif containing 2 | |
| Synonyms | 2310061C15Rik|C16orf61|DC13 | |
| Cytomap | 16q23.2 | |
| Type of gene | protein-coding | |
| Description | COX assembly mitochondrial protein 2 homologC-x(9)-C motif containing 2 | |
| 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 CMC2 |
| 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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ENSG00000103121
| 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 | DOWN | ENST00000569666.5 | CMC2-221:retained_intron:CMC2 | 1.463617e+01 | -1.719092e+00 | 6.271818e-07 | 1.009163e-05 |
| CB | DOWN | ENST00000564249.5 | CMC2-208:protein_coding:CMC2 | 6.599811e+01 | -8.834465e-01 | 1.993425e-06 | 2.694049e-05 |
| CB | UP | ENST00000565108.5 | CMC2-209:protein_coding:CMC2 | 1.809853e+01 | 1.012501e+00 | 1.281147e-05 | 1.298332e-04 |
| CB | DOWN | ENST00000566918.5 | CMC2-217:lncRNA:CMC2 | 7.748142e+00 | -1.778919e+00 | 7.270369e-03 | 2.676951e-02 |
| TC | DOWN | ENST00000569666.5 | CMC2-221:retained_intron:CMC2 | 1.727716e+01 | -9.436356e-01 | 1.449044e-03 | 1.310495e-02 |
| TC | DOWN | ENST00000565613.5 | CMC2-211:nonsense_mediated_decay:CMC2 | 6.480009e+00 | -8.301388e-01 | 2.465373e-03 | 1.966865e-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 CMC2 |
| 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_111338 | chr16 | 80980770:80980879:80981806:80981877:80997314:80997429 | 80981806:80981877 |
| exon_skip_12551 | chr16 | 80978242:80978415:80980770:80980879:80981806:80981877 | 80980770:80980879 |
| exon_skip_146976 | chr16 | 80981806:80981877:80996923:80997020:80997314:80997429 | 80996923:80997020 |
| exon_skip_147344 | chr16 | 80981806:80981877:80997314:80997429:81006734:81006897 | 80997314:80997429 |
| exon_skip_168827 | chr16 | 80981806:80981877:80988540:80988596:80997314:80997429 | 80988540:80988596 |
| exon_skip_21980 | chr16 | 80997314:80997429:80998285:80998351:81006734:81006854 | 80998285:80998351 |
| exon_skip_246906 | chr16 | 80997314:80997429:80998285:80998354:81006734:81006875 | 80998285:80998354 |
| exon_skip_248313 | chr16 | 80975802:80976179:80980770:80980879:80981806:80981877 | 80980770:80980879 |
| exon_skip_55714 | chr16 | 80975802:80976179:80978242:80978415:80980770:80980879 | 80978242:80978415 |
| exon_skip_59116 | chr16 | 80976050:80976179:80980770:80980879:80997314:80997429 | 80980770:80980879 |
| exon_skip_65887 | chr16 | 80975802:80976179:80978242:80978415:80981806:80981877 | 80978242:80978415 |
| exon_skip_75595 | chr16 | 80981806:80981877:80991754:80991957:80997314:80997429 | 80991754:80991957 |
| 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 CMC2 |
| 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 |
| ENST00000565650 | 80998285 | 80998354 | 3UTR-3UTR |
| 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 |
| ENST00000565650 | 80998285 | 80998354 | 3UTR-3UTR |
| 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 |
| ENST00000565650 | 80998285 | 80998354 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for CMC2 |
p-ENSG00000103121_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 CMC2 |
| 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 | ENST00000565650 | 80998285 | 80998354 | hsa-miR-4482-3p | chr16:80998311-80998318 | 8mer-1a | chr16:80998297-80998318 | 145.00 | -14.06 |
| Mayo | ENST00000565650 | 80998285 | 80998354 | hsa-miR-3201 | chr16:80998332-80998339 | 8mer-1a | chr16:80998322-80998339 | 140.00 | -10.98 |
| Mayo | ENST00000565650 | 80998285 | 80998354 | hsa-miR-4791 | chr16:80998332-80998339 | 8mer-1a | chr16:80998322-80998339 | 140.00 | -10.98 |
| Mayo | ENST00000565650 | 80998285 | 80998354 | hsa-miR-218-1-3p | chr16:80998322-80998329 | 8mer-1a | chr16:80998315-80998336 | 152.00 | -13.79 |
| MSBB | ENST00000565650 | 80998285 | 80998354 | hsa-miR-4482-3p | chr16:80998311-80998318 | 8mer-1a | chr16:80998297-80998318 | 145.00 | -14.06 |
| MSBB | ENST00000565650 | 80998285 | 80998354 | hsa-miR-3201 | chr16:80998332-80998339 | 8mer-1a | chr16:80998322-80998339 | 140.00 | -10.98 |
| MSBB | ENST00000565650 | 80998285 | 80998354 | hsa-miR-4791 | chr16:80998332-80998339 | 8mer-1a | chr16:80998322-80998339 | 140.00 | -10.98 |
| MSBB | ENST00000565650 | 80998285 | 80998354 | hsa-miR-218-1-3p | chr16:80998322-80998329 | 8mer-1a | chr16:80998315-80998336 | 152.00 | -13.79 |
| ROSMAP | ENST00000565650 | 80998285 | 80998354 | hsa-miR-4482-3p | chr16:80998311-80998318 | 8mer-1a | chr16:80998297-80998318 | 145.00 | -14.06 |
| ROSMAP | ENST00000565650 | 80998285 | 80998354 | hsa-miR-3201 | chr16:80998332-80998339 | 8mer-1a | chr16:80998322-80998339 | 140.00 | -10.98 |
| ROSMAP | ENST00000565650 | 80998285 | 80998354 | hsa-miR-4791 | chr16:80998332-80998339 | 8mer-1a | chr16:80998322-80998339 | 140.00 | -10.98 |
| ROSMAP | ENST00000565650 | 80998285 | 80998354 | hsa-miR-218-1-3p | chr16:80998322-80998329 | 8mer-1a | chr16:80998315-80998336 | 152.00 | -13.79 |
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SNVs in the skipped exons for CMC2 |
| - 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 CMC2 |
| 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 CMC2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_111338 | rs10459872 | chr16:81061346 | 1.970583e-04 | 2.956468e-02 |
| TC | exon_skip_111338 | rs10459872 | chr16:81061346 | 1.787724e-06 | 5.715388e-04 |
| TC | exon_skip_111338 | rs1048194 | chr16:81031097 | 2.184200e-06 | 6.819011e-04 |
| TC | exon_skip_111338 | rs4324141 | chr16:81081220 | 2.184200e-06 | 6.819011e-04 |
| TC | exon_skip_111338 | rs2970077 | chr16:81041195 | 3.237568e-06 | 9.428838e-04 |
| TC | exon_skip_111338 | rs2602431 | chr16:81037092 | 2.843107e-05 | 5.840711e-03 |
| TC | exon_skip_111338 | rs2549899 | chr16:81055267 | 3.243260e-05 | 6.548693e-03 |
| TC | exon_skip_111338 | rs1549288 | chr16:81027156 | 9.472975e-05 | 1.569421e-02 |
| TC | exon_skip_59116 | rs35496593 | chr16:80945536 | 9.515475e-05 | 1.569421e-02 |
| HCC | exon_skip_111338 | rs1549288 | chr16:81027156 | 6.620147e-05 | 6.447430e-03 |
| HCC | exon_skip_111338 | rs2549860 | chr16:80993537 | 5.357823e-04 | 3.583823e-02 |
| DLPFC | exon_skip_111338 | rs11861190 | chr16:80898451 | 6.752391e-06 | 7.920924e-04 |
| DLPFC | exon_skip_111338 | rs2549860 | chr16:80993537 | 9.072406e-06 | 1.036581e-03 |
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Correlation with RNA binding proteins (RBPs) for CMC2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ZNF638 | exon_skip_21980 | -4.067113e-01 | 1.039085e-07 |
| DLPFC | EWSR1 | exon_skip_248313 | 4.006419e-01 | 1.175982e-14 |
| DLPFC | SRSF9 | exon_skip_248313 | 4.069529e-01 | 4.101204e-15 |
| IFG | EWSR1 | exon_skip_21980 | 4.165838e-01 | 3.065218e-02 |
| IFG | KHDRBS2 | exon_skip_246906 | 4.468949e-01 | 1.944005e-02 |
| TC | KHDRBS2 | exon_skip_21980 | 4.571168e-01 | 1.230336e-09 |
| TC | RALYL | exon_skip_21980 | 4.160962e-01 | 4.445245e-08 |
| TC | KHDRBS2 | exon_skip_246906 | 4.990192e-01 | 1.864680e-11 |
| TC | RALYL | exon_skip_246906 | 4.641882e-01 | 6.309164e-10 |
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RelatedDrugs for CMC2 |
| 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 CMC2 |
| 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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