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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 CDH13 |
 Gene summary |
| Gene information | Gene symbol | CDH13 | Gene ID | 1012 |
| Gene name | cadherin 13 | |
| Synonyms | CDHH|P105 | |
| Cytomap | 16q23.3 | |
| Type of gene | protein-coding | |
| Description | cadherin-13H-cadherin (heart)T-cadT-cadherincadherin 13, H-cadherin (heart)heart cadherin | |
| Modification date | 20180523 | |
| UniProtAcc | P55290 | |
| Context | PubMed: CDH13 [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 |
| CDH13 | GO:0002040 | sprouting angiogenesis | 16873731 |
| CDH13 | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | 10601632 |
| CDH13 | GO:0007162 | negative regulation of cell adhesion | 14729458 |
| CDH13 | GO:0008285 | negative regulation of cell proliferation | 10737605 |
| CDH13 | GO:0016339 | calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | 10601632 |
| CDH13 | GO:0030032 | lamellipodium assembly | 15703273 |
| CDH13 | GO:0030335 | positive regulation of cell migration | 14729458 |
| CDH13 | GO:0043542 | endothelial cell migration | 14729458 |
| CDH13 | GO:0043616 | keratinocyte proliferation | 15816843 |
| CDH13 | GO:0050850 | positive regulation of calcium-mediated signaling | 16013438 |
| CDH13 | GO:0050927 | positive regulation of positive chemotaxis | 16013438 |
| CDH13 | GO:0055096 | low-density lipoprotein particle mediated signaling | 16013438 |
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Exon skipping events across known transcript of Ensembl for CDH13 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 CDH13 |
| 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 CDH13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138962 | 16 | 82660697:82660742:82671225:82671372:82672964:82673070 | 82671225:82671372 | ENSG00000140945.11 | ENST00000569455.1 |
| exon_skip_138966 | 16 | 82660697:82660742:82672964:82673070:82891966:82892078 | 82672964:82673070 | ENSG00000140945.11 | ENST00000268613.10 |
| exon_skip_138968 | 16 | 82660697:82660742:82738666:82738879:82891966:82892078 | 82738666:82738879 | ENSG00000140945.11 | ENST00000562601.1 |
| exon_skip_138969 | 16 | 82660573:82660742:82752966:82753080:82891966:82892078 | 82752966:82753080 | ENSG00000140945.11 | ENST00000568770.1 |
| exon_skip_138971 | 16 | 82660697:82660742:82891966:82892078:83065614:83065664 | 82891966:82892078 | ENSG00000140945.11 | ENST00000565636.1,ENST00000566333.1,ENST00000446376.2,ENST00000431540.3,ENST00000428848.3 |
| exon_skip_138972 | 16 | 82660697:82660742:82891966:82892078:83158989:83159106 | 82891966:82892078 | ENSG00000140945.11 | ENST00000539548.2 |
| exon_skip_138979 | 16 | 82891966:82892078:83056617:83056699:83065614:83065726 | 83056617:83056699 | ENSG00000140945.11 | ENST00000568770.1 |
| exon_skip_138980 | 16 | 82891966:82892078:83065614:83065823:83158989:83159106 | 83065614:83065823 | ENSG00000140945.11 | ENST00000565636.1,ENST00000268613.10,ENST00000566620.1,ENST00000446376.2,ENST00000431540.3 |
| exon_skip_138981 | 16 | 83065614:83065823:83158989:83159106:83250949:83251102 | 83158989:83159106 | ENSG00000140945.11 | ENST00000268613.10,ENST00000569454.1,ENST00000566620.1 |
| exon_skip_138982 | 16 | 83158989:83159106:83250949:83251102:83378466:83378611 | 83250949:83251102 | ENSG00000140945.11 | ENST00000268613.10,ENST00000569454.1,ENST00000566620.1,ENST00000539548.2 |
| exon_skip_138984 | 16 | 83520081:83520260:83636058:83636199:83704394:83704486 | 83636058:83636199 | ENSG00000140945.11 | ENST00000268613.10,ENST00000566620.1,ENST00000539548.2,ENST00000428848.3 |
| exon_skip_138987 | 16 | 83813572:83813806:83816858:83817077:83828627:83828682 | 83816858:83817077 | ENSG00000140945.11 | ENST00000268613.10,ENST00000566620.1,ENST00000539548.2,ENST00000428848.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDH13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_138962 | 16 | 82660697:82660742:82671225:82671372:82672964:82673070 | 82671225:82671372 | ENSG00000140945.11 | ENST00000569455.1 |
| exon_skip_138966 | 16 | 82660697:82660742:82672964:82673070:82891966:82892078 | 82672964:82673070 | ENSG00000140945.11 | ENST00000268613.10 |
| exon_skip_138968 | 16 | 82660697:82660742:82738666:82738879:82891966:82892078 | 82738666:82738879 | ENSG00000140945.11 | ENST00000562601.1 |
| exon_skip_138969 | 16 | 82660573:82660742:82752966:82753080:82891966:82892078 | 82752966:82753080 | ENSG00000140945.11 | ENST00000568770.1 |
| exon_skip_138971 | 16 | 82660697:82660742:82891966:82892078:83065614:83065664 | 82891966:82892078 | ENSG00000140945.11 | ENST00000565636.1,ENST00000431540.3,ENST00000428848.3,ENST00000566333.1,ENST00000446376.2 |
| exon_skip_138972 | 16 | 82660697:82660742:82891966:82892078:83158989:83159106 | 82891966:82892078 | ENSG00000140945.11 | ENST00000539548.2 |
| exon_skip_138979 | 16 | 82891966:82892078:83056617:83056699:83065614:83065726 | 83056617:83056699 | ENSG00000140945.11 | ENST00000568770.1 |
| exon_skip_138980 | 16 | 82891966:82892078:83065614:83065823:83158989:83159106 | 83065614:83065823 | ENSG00000140945.11 | ENST00000566620.1,ENST00000268613.10,ENST00000565636.1,ENST00000431540.3,ENST00000446376.2 |
| exon_skip_138981 | 16 | 83065614:83065823:83158989:83159106:83250949:83251102 | 83158989:83159106 | ENSG00000140945.11 | ENST00000566620.1,ENST00000268613.10,ENST00000569454.1 |
| exon_skip_138982 | 16 | 83158989:83159106:83250949:83251102:83378466:83378611 | 83250949:83251102 | ENSG00000140945.11 | ENST00000566620.1,ENST00000268613.10,ENST00000539548.2,ENST00000569454.1 |
| exon_skip_138984 | 16 | 83520081:83520260:83636058:83636199:83704394:83704486 | 83636058:83636199 | ENSG00000140945.11 | ENST00000566620.1,ENST00000268613.10,ENST00000428848.3,ENST00000539548.2 |
| exon_skip_138987 | 16 | 83813572:83813806:83816858:83817077:83828627:83828682 | 83816858:83817077 | ENSG00000140945.11 | ENST00000566620.1,ENST00000268613.10,ENST00000428848.3,ENST00000539548.2 |
| 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 CDH13 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CDH13 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for CDH13 |
| - 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-DD-A3A0-01 | exon_skip_138980 | 83065615 | 83065823 | 83065637 | 83065637 | Frame_Shift_Del | A | - | p.G60fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_138980 | 83065615 | 83065823 | 83065698 | 83065698 | Frame_Shift_Del | T | - | p.L81fs |
| COAD | TCGA-A6-6653-01 | exon_skip_138980 | 83065615 | 83065823 | 83065794 | 83065794 | Frame_Shift_Del | G | - | p.V112fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_138980 | 83065615 | 83065823 | 83065794 | 83065794 | Frame_Shift_Del | G | - | p.V159fs |
| LGG | TCGA-P5-A5EZ-01 | exon_skip_138982 | 83250950 | 83251102 | 83251008 | 83251009 | Frame_Shift_Del | AT | - | p.D181fs |
| KICH | TCGA-KN-8422-01 | exon_skip_138984 | 83636059 | 83636199 | 83636109 | 83636110 | Frame_Shift_Ins | - | G | p.A384fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_138982 | 83250950 | 83251102 | 83251040 | 83251040 | Nonsense_Mutation | G | T | p.E192* |
| SKCM | TCGA-ER-A19S-06 | exon_skip_138984 | 83636059 | 83636199 | 83636110 | 83636110 | Nonsense_Mutation | G | T | p.G338* |
| SKCM | TCGA-ER-A19S-06 | exon_skip_138984 | 83636059 | 83636199 | 83636110 | 83636110 | Nonsense_Mutation | G | T | p.G385X |
| LUAD | TCGA-80-5607-01 | exon_skip_138987 | 83816859 | 83817077 | 83816885 | 83816885 | Nonsense_Mutation | C | T | p.Q648* |
| - 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 |
| C33A_CERVIX | 83065615 | 83065823 | 83065756 | 83065756 | Frame_Shift_Del | C | - | p.T100fs |
| RL952_ENDOMETRIUM | 83065615 | 83065823 | 83065756 | 83065756 | Frame_Shift_Del | C | - | p.T100fs |
| SNU1040_LARGE_INTESTINE | 83065615 | 83065823 | 83065756 | 83065756 | Frame_Shift_Del | C | - | p.T100fs |
| CME1_SOFT_TISSUE | 83065615 | 83065823 | 83065758 | 83065758 | Missense_Mutation | C | T | p.P101S |
| HEC1A_ENDOMETRIUM | 83065615 | 83065823 | 83065765 | 83065765 | Missense_Mutation | C | T | p.A103V |
| HEY_OVARY | 83065615 | 83065823 | 83065775 | 83065775 | Missense_Mutation | G | A | p.M106I |
| EW11_BONE | 83065615 | 83065823 | 83065819 | 83065819 | Missense_Mutation | T | C | p.L121S |
| KS1_CENTRAL_NERVOUS_SYSTEM | 83250950 | 83251102 | 83250980 | 83250980 | Missense_Mutation | A | G | p.K172E |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 83250950 | 83251102 | 83251068 | 83251068 | Missense_Mutation | G | A | p.R201Q |
| NCIH513_PLEURA | 83250950 | 83251102 | 83251080 | 83251080 | Missense_Mutation | G | C | p.R205T |
| HEC251_ENDOMETRIUM | 83636059 | 83636199 | 83636101 | 83636101 | Missense_Mutation | G | T | p.D335Y |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 83636059 | 83636199 | 83636152 | 83636152 | Missense_Mutation | A | G | p.M352V |
| SH10TC_STOMACH | 83636059 | 83636199 | 83636197 | 83636197 | Missense_Mutation | G | A | p.E367K |
| JHU028_LUNG | 83816859 | 83817077 | 83816963 | 83816963 | Missense_Mutation | G | C | p.D674H |
| LNCAPCLONEFGC_PROSTATE | 83816859 | 83817077 | 83817009 | 83817009 | Missense_Mutation | G | A | p.C689Y |
| GP2D_LARGE_INTESTINE | 83816859 | 83817077 | 83817014 | 83817014 | Missense_Mutation | G | A | p.A691T |
| GP2D_LARGE_INTESTINE | 83816859 | 83817077 | 83817020 | 83817020 | Missense_Mutation | G | A | p.G693R |
| GP5D_LARGE_INTESTINE | 83816859 | 83817077 | 83817020 | 83817020 | Missense_Mutation | G | A | p.G693R |
| KU1919_URINARY_TRACT | 83816859 | 83817077 | 83817023 | 83817023 | Missense_Mutation | G | T | p.A694S |
| SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 83816859 | 83817077 | 83816859 | 83816859 | Splice_Site | A | C | p.N639T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDH13 |
| 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_138980 | 16 | 82891966:82892078:83065614:83065823:83158989:83159106 | 83065614:83065823 | ENST00000565636.1,ENST00000268613.10,ENST00000566620.1,ENST00000446376.2,ENST00000431540.3 | LGG | rs6565105 | chr16:83065664 | G/A | 1.53e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDH13 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDH13 |
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RelatedDrugs for CDH13 |
| 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 CDH13 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CDH13 | C0001973 | Alcoholic Intoxication, Chronic | 3 | PSYGENET |
| CDH13 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| CDH13 | C2239176 | Liver carcinoma | 2 | CTD_human |
| CDH13 | C0004763 | Barrett Esophagus | 1 | CTD_human |
| CDH13 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| CDH13 | C0011570 | Mental Depression | 1 | PSYGENET |
| CDH13 | C0011581 | Depressive disorder | 1 | PSYGENET |
| CDH13 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| CDH13 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| CDH13 | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| CDH13 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
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