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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for CADM4 |
Gene summary |
Gene information | Gene symbol | CADM4 | Gene ID | 199731 |
Gene name | cell adhesion molecule 4 | |
Synonyms | IGSF4C|NECL4|Necl-4|TSLL2|synCAM4 | |
Cytomap | 19q13.31 | |
Type of gene | protein-coding | |
Description | cell adhesion molecule 4TSLC1-like 2TSLC1-like protein 2immunoglobulin superfamily member 4Cnectin-like 4nectin-like protein 4 | |
Modification date | 20180519 | |
UniProtAcc | Q8NFZ8 | |
Context | PubMed: CADM4 [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 |
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Exon skipping events across known transcript of Ensembl for CADM4 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 CADM4 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CADM4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_319255 | 19 | 44127159:44127591:44128265:44128394:44129229:44129402 | 44128265:44128394 | ENSG00000105767.2 | ENST00000222374.2 |
exon_skip_319259 | 19 | 44129229:44129402:44130062:44130153:44130275:44130440 | 44130062:44130153 | ENSG00000105767.2 | ENST00000222374.2 |
exon_skip_319262 | 19 | 44130295:44130440:44130935:44131070:44131317:44131470 | 44130935:44131070 | ENSG00000105767.2 | ENST00000222374.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CADM4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_319255 | 19 | 44127159:44127591:44128265:44128394:44129229:44129402 | 44128265:44128394 | ENSG00000105767.2 | ENST00000222374.2 |
exon_skip_319259 | 19 | 44129229:44129402:44130062:44130153:44130275:44130440 | 44130062:44130153 | ENSG00000105767.2 | ENST00000222374.2 |
exon_skip_319262 | 19 | 44130295:44130440:44130935:44131070:44131317:44131470 | 44130935:44131070 | ENSG00000105767.2 | ENST00000222374.2 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CADM4 |
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 |
ENST00000222374 | 44130062 | 44130153 | Frame-shift |
ENST00000222374 | 44128265 | 44128394 | In-frame |
ENST00000222374 | 44130935 | 44131070 | In-frame |
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 |
ENST00000222374 | 44130062 | 44130153 | Frame-shift |
ENST00000222374 | 44128265 | 44128394 | In-frame |
ENST00000222374 | 44130935 | 44131070 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CADM4 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000222374 | 2195 | 388 | 44130935 | 44131070 | 414 | 548 | 121 | 166 |
ENST00000222374 | 2195 | 388 | 44128265 | 44128394 | 978 | 1106 | 309 | 352 |
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 |
ENST00000222374 | 2195 | 388 | 44130935 | 44131070 | 414 | 548 | 121 | 166 |
ENST00000222374 | 2195 | 388 | 44128265 | 44128394 | 978 | 1106 | 309 | 352 |
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 |
Q8NFZ8 | 121 | 166 | 21 | 388 | Chain | ID=PRO_0000291980;Note=Cell adhesion molecule 4 |
Q8NFZ8 | 121 | 166 | 145 | 199 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
Q8NFZ8 | 121 | 166 | 124 | 219 | Domain | Note=Ig-like C2-type 1 |
Q8NFZ8 | 121 | 166 | 21 | 324 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NFZ8 | 309 | 352 | 21 | 388 | Chain | ID=PRO_0000291980;Note=Cell adhesion molecule 4 |
Q8NFZ8 | 309 | 352 | 21 | 324 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NFZ8 | 309 | 352 | 346 | 388 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NFZ8 | 309 | 352 | 325 | 345 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
Q8NFZ8 | 121 | 166 | 21 | 388 | Chain | ID=PRO_0000291980;Note=Cell adhesion molecule 4 |
Q8NFZ8 | 121 | 166 | 145 | 199 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
Q8NFZ8 | 121 | 166 | 124 | 219 | Domain | Note=Ig-like C2-type 1 |
Q8NFZ8 | 121 | 166 | 21 | 324 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NFZ8 | 309 | 352 | 21 | 388 | Chain | ID=PRO_0000291980;Note=Cell adhesion molecule 4 |
Q8NFZ8 | 309 | 352 | 21 | 324 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NFZ8 | 309 | 352 | 346 | 388 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q8NFZ8 | 309 | 352 | 325 | 345 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CADM4 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
SKCM | TCGA-EE-A29P-06 | exon_skip_319262 | 44130936 | 44131070 | 44130962 | 44130962 | Nonsense_Mutation | C | T | p.W158* |
SKCM | TCGA-EE-A29P-06 | exon_skip_319262 | 44130936 | 44131070 | 44130962 | 44130962 | Nonsense_Mutation | C | T | p.W158X |
SARC | TCGA-3B-A9HL-01 | exon_skip_319259 | 44130063 | 44130153 | 44130154 | 44130154 | Splice_Site | C | G | e6-1 |
- 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 |
NCIH630_LARGE_INTESTINE | 44130063 | 44130153 | 44130146 | 44130146 | Frame_Shift_Del | G | - | p.P224fs |
42MGBA_CENTRAL_NERVOUS_SYSTEM | 44128266 | 44128394 | 44128275 | 44128275 | Missense_Mutation | G | A | p.R350W |
MFE319_ENDOMETRIUM | 44128266 | 44128394 | 44128284 | 44128284 | Missense_Mutation | A | G | p.C347R |
HCC15_LUNG | 44128266 | 44128394 | 44128304 | 44128304 | Missense_Mutation | A | G | p.V340A |
AN3CA_ENDOMETRIUM | 44128266 | 44128394 | 44128388 | 44128388 | Missense_Mutation | C | T | p.G312D |
SNUC5_LARGE_INTESTINE | 44130936 | 44131070 | 44130956 | 44130956 | Missense_Mutation | C | T | p.R160Q |
LNCAPCLONEFGC_PROSTATE | 44130936 | 44131070 | 44130983 | 44130983 | Missense_Mutation | C | T | p.R151H |
HEC6_ENDOMETRIUM | 44130936 | 44131070 | 44130996 | 44130996 | Missense_Mutation | C | T | p.V147I |
5637_URINARY_TRACT | 44130936 | 44131070 | 44130996 | 44130996 | Missense_Mutation | C | T | p.V147I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CADM4 |
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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CADM4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CADM4 |
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RelatedDrugs for CADM4 |
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 CADM4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |