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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 SLC16A12 |
 Gene summary |
| Gene information | Gene symbol | SLC16A12 | Gene ID | 387700 |
| Gene name | solute carrier family 16 member 12 | |
| Synonyms | CJMG|CRT2|CTRCT47|MCT12 | |
| Cytomap | 10q23.31 | |
| Type of gene | protein-coding | |
| Description | monocarboxylate transporter 12creatine transporter 2monocarboxylic acid transporter 12 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6ZSM3 | |
| Context | PubMed: SLC16A12 [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 |
| SLC16A12 | GO:0015881 | creatine transmembrane transport | 23578822 |
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Exon skipping events across known transcript of Ensembl for SLC16A12 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 SLC16A12 |
| 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 SLC16A12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_52091 | 10 | 91190055:91193083:91195816:91196076:91198360:91198940 | 91195816:91196076 | ENSG00000152779.12 | ENST00000341233.4,ENST00000371790.4 |
| exon_skip_52095 | 10 | 91200864:91201008:91203512:91203616:91222135:91222381 | 91203512:91203616 | ENSG00000152779.12 | ENST00000341233.4,ENST00000371790.4 |
| exon_skip_52108 | 10 | 91222259:91222381:91294257:91294397:91295198:91295313 | 91294257:91294397 | ENSG00000152779.12 | ENST00000371790.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SLC16A12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_52091 | 10 | 91190055:91193083:91195816:91196076:91198360:91198940 | 91195816:91196076 | ENSG00000152779.12 | ENST00000341233.4,ENST00000371790.4 |
| exon_skip_52108 | 10 | 91222259:91222381:91294257:91294397:91295198:91295313 | 91294257:91294397 | ENSG00000152779.12 | ENST00000371790.4 |
| 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 SLC16A12 |
| 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 |
| ENST00000371790 | 91294257 | 91294397 | 3UTR-3UTR |
| ENST00000371790 | 91195816 | 91196076 | Frame-shift |
| ENST00000371790 | 91203512 | 91203616 | 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 |
| ENST00000371790 | 91294257 | 91294397 | 3UTR-3UTR |
| ENST00000371790 | 91195816 | 91196076 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SLC16A12 |
| 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 SLC16A12 |
| - 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-A1EG-01 | exon_skip_52091 | 91195817 | 91196076 | 91196002 | 91196002 | Frame_Shift_Del | G | - | p.P338fs |
| HNSC | TCGA-CN-4735-01 | exon_skip_52095 | 91203513 | 91203616 | 91203593 | 91203605 | Frame_Shift_Del | TCCACAAAAAAAA | - | p.I41fs |
| HNSC | TCGA-CN-4735-01 | exon_skip_52095 | 91203513 | 91203616 | 91203593 | 91203605 | Frame_Shift_Del | TCCACAAAAAAAA | - | p.IFFVE41fs |
| COAD | TCGA-AD-6895-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.V74fs |
| COAD | TCGA-D5-6930-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.V74fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.F43fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.F73fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.F43fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.F73fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203598 | Frame_Shift_Del | A | - | p.F73fs |
| STAD | TCGA-BR-8487-01 | exon_skip_52095 | 91203513 | 91203616 | 91203598 | 91203599 | Frame_Shift_Ins | - | A | p.F73fs |
| CESC | TCGA-C5-A1MK-01 | exon_skip_52091 | 91195817 | 91196076 | 91195879 | 91195879 | Nonsense_Mutation | G | C | p.S379* |
| CESC | TCGA-C5-A1MK-01 | exon_skip_52091 | 91195817 | 91196076 | 91195879 | 91195879 | Nonsense_Mutation | G | C | p.S409* |
| DLBC | TCGA-GS-A9U3-01 | exon_skip_52091 | 91195817 | 91196076 | 91195994 | 91195994 | Nonsense_Mutation | G | A | p.Q371X |
| SKCM | TCGA-EB-A41A-01 | exon_skip_52095 | 91203513 | 91203616 | 91203550 | 91203550 | Nonsense_Mutation | C | T | p.W59* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_52095 | 91203513 | 91203616 | 91203550 | 91203550 | Nonsense_Mutation | C | T | p.W89X |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 91195817 | 91196076 | 91195876 | 91195876 | Missense_Mutation | G | A | p.A380V |
| KE39_STOMACH | 91195817 | 91196076 | 91195960 | 91195960 | Missense_Mutation | G | A | p.T352I |
| SW48_LARGE_INTESTINE | 91195817 | 91196076 | 91195985 | 91195985 | Missense_Mutation | G | A | p.P344S |
| MDAMB361_BREAST | 91195817 | 91196076 | 91195988 | 91195988 | Missense_Mutation | G | A | p.L343F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SLC16A12 |
| 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 SLC16A12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SLC16A12 |
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RelatedDrugs for SLC16A12 |
| 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 SLC16A12 |
| 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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