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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 BCAM |
 Gene summary |
| Gene information | Gene symbol | BCAM | Gene ID | 4059 |
| Gene name | basal cell adhesion molecule (Lutheran blood group) | |
| Synonyms | AU|CD239|LU|MSK19 | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | basal cell adhesion moleculeAuberger b antigenB-CAM cell surface glycoproteinB-cell adhesion moleculeF8/G253 antigenLutheran blood group variant LUGAbasal cell adhesion molecule (Lu and Au blood groups) | |
| Modification date | 20180522 | |
| UniProtAcc | P50895 | |
| Context | PubMed: BCAM [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 BCAM 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 BCAM |
| 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 BCAM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308031 | 19 | 45316829:45316877:45317408:45317545:45317860:45317906 | 45317408:45317545 | ENSG00000187244.6 | ENST00000270233.6,ENST00000589651.1 |
| exon_skip_308037 | 19 | 45316694:45316877:45317860:45318017:45321778:45321894 | 45317860:45318017 | ENSG00000187244.6 | ENST00000590196.1 |
| exon_skip_308046 | 19 | 45321787:45321894:45321997:45322139:45322312:45322449 | 45321997:45322139 | ENSG00000187244.6 | ENST00000270233.6,ENST00000589651.1 |
| exon_skip_308050 | 19 | 45321997:45322139:45322312:45322449:45322602:45322747 | 45322312:45322449 | ENSG00000187244.6 | ENST00000270233.6,ENST00000589651.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCAM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_308031 | 19 | 45316829:45316877:45317408:45317545:45317860:45317906 | 45317408:45317545 | ENSG00000187244.6 | ENST00000589651.1,ENST00000270233.6 |
| exon_skip_308046 | 19 | 45321787:45321894:45321997:45322139:45322312:45322449 | 45321997:45322139 | ENSG00000187244.6 | ENST00000589651.1,ENST00000270233.6 |
| 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 BCAM |
| 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 |
| ENST00000270233 | 45317408 | 45317545 | Frame-shift |
| ENST00000270233 | 45321997 | 45322139 | Frame-shift |
| ENST00000270233 | 45322312 | 45322449 | Frame-shift |
| 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 |
| ENST00000270233 | 45317408 | 45317545 | Frame-shift |
| ENST00000270233 | 45321997 | 45322139 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BCAM |
| 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 BCAM |
| - 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-G3-A3CJ-01 | exon_skip_308037 | 45317861 | 45318017 | 45317896 | 45317896 | Frame_Shift_Del | G | - | p.E319fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_308046 | 45321998 | 45322139 | 45322007 | 45322007 | Frame_Shift_Del | C | - | p.P402fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_308046 | 45321998 | 45322139 | 45322096 | 45322096 | Frame_Shift_Del | C | - | p.V431fs |
| HNSC | TCGA-CN-5369-01 | exon_skip_308050 | 45322313 | 45322449 | 45322440 | 45322440 | Frame_Shift_Del | G | - | p.L488fs |
| LUAD | TCGA-95-7567-01 | exon_skip_308050 | 45322313 | 45322449 | 45322439 | 45322440 | Frame_Shift_Ins | - | G | p.L488fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_308050 | 45322313 | 45322449 | 45322439 | 45322440 | Frame_Shift_Ins | - | G | p.L488fs |
| UCEC | TCGA-B5-A0K7-01 | exon_skip_308050 | 45322313 | 45322449 | 45322439 | 45322440 | Frame_Shift_Ins | - | G | p.L488fs |
| LUSC | TCGA-66-2787-01 | exon_skip_308037 | 45317861 | 45318017 | 45317915 | 45317915 | Nonsense_Mutation | G | T | p.G326* |
| - 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 |
| OVK18_OVARY | 45322313 | 45322449 | 45322439 | 45322440 | Frame_Shift_Ins | - | G | p.LG488fs |
| 451LU_SKIN | 45317409 | 45317545 | 45317502 | 45317502 | Missense_Mutation | G | A | p.G293E |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45317409 | 45317545 | 45317504 | 45317504 | Missense_Mutation | G | C | p.D294H |
| TGW_AUTONOMIC_GANGLIA | 45317409 | 45317545 | 45317537 | 45317537 | Missense_Mutation | C | T | p.R305C |
| SNUC5_LARGE_INTESTINE | 45317861 | 45318017 | 45317928 | 45317928 | Missense_Mutation | G | C | p.G330A |
| SKCO1_LARGE_INTESTINE | 45321998 | 45322139 | 45322014 | 45322014 | Missense_Mutation | G | C | p.G404A |
| SNU175_LARGE_INTESTINE | 45321998 | 45322139 | 45322041 | 45322041 | Missense_Mutation | C | T | p.S413F |
| SNUC2A_LARGE_INTESTINE | 45322313 | 45322449 | 45322405 | 45322405 | Missense_Mutation | G | A | p.G477S |
| FADU_UPPER_AERODIGESTIVE_TRACT | 45322313 | 45322449 | 45322405 | 45322405 | Missense_Mutation | G | A | p.G477S |
| SNUC2B_LARGE_INTESTINE | 45322313 | 45322449 | 45322405 | 45322405 | Missense_Mutation | G | A | p.G477S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCAM |
| 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 BCAM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCAM |
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RelatedDrugs for BCAM |
| 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 BCAM |
| 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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