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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 CACNA1B |
 Gene summary |
| Gene information | Gene symbol | CACNA1B | Gene ID | 774 |
| Gene name | calcium voltage-gated channel subunit alpha1 B | |
| Synonyms | BIII|CACNL1A5|CACNN|Cav2.2|DYT23 | |
| Cytomap | 9q34.3 | |
| Type of gene | protein-coding | |
| Description | voltage-dependent N-type calcium channel subunit alpha-1BCav2.2 voltage-gated Ca2+ channelbrain calcium channel IIIcalcium channel alpha12.2 subunitcalcium channel, L type, alpha-1 polypeptidecalcium channel, voltage-dependent, L type, alpha 1B subun | |
| Modification date | 20180523 | |
| UniProtAcc | Q00975 | |
| Context | PubMed: CACNA1B [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 CACNA1B 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 CACNA1B |
| 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 CACNA1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_502249 | 9 | 140852049:140852139:140865834:140866044:140870358:140870471 | 140865834:140866044 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371357.1,ENST00000371363.1,ENST00000371372.1,ENST00000277549.5,ENST00000371355.4 |
| exon_skip_502250 | 9 | 140907580:140907687:140911590:140911653:140917462:140917562 | 140911590:140911653 | ENSG00000148408.8 | ENST00000277550.3 |
| exon_skip_502255 | 9 | 140919406:140919624:140934998:140935124:140938225:140938352 | 140934998:140935124 | ENSG00000148408.8 | ENST00000545473.1 |
| exon_skip_502256 | 9 | 140919406:140919624:140938225:140938352:140941355:140941485 | 140938225:140938352 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371357.1,ENST00000371363.1,ENST00000371372.1,ENST00000277549.5,ENST00000371355.4 |
| exon_skip_502258 | 9 | 140941355:140941485:140941850:140941910:140943660:140943749 | 140941850:140941910 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371357.1,ENST00000371363.1,ENST00000545473.1,ENST00000371372.1,ENST00000277549.5,ENST00000371355.4 |
| exon_skip_502259 | 9 | 140943660:140943767:140944526:140944538:140946543:140946640 | 140944526:140944538 | ENSG00000148408.8 | ENST00000277549.5 |
| exon_skip_502261 | 9 | 140952500:140952702:140953020:140953185:140953530:140953641 | 140953020:140953185 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371357.1,ENST00000371363.1,ENST00000371372.1,ENST00000277549.5,ENST00000371355.4 |
| exon_skip_502263 | 9 | 140954105:140954189:140964209:140964215:140967939:140968056 | 140964209:140964215 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1 |
| exon_skip_502264 | 9 | 140954105:140954189:140967939:140968056:140968452:140968518 | 140967939:140968056 | ENSG00000148408.8 | ENST00000371357.1,ENST00000371363.1,ENST00000277549.5 |
| exon_skip_502266 | 9 | 140972565:140972710:140990935:140991063:140997162:140997259 | 140990935:140991063 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371357.1,ENST00000371363.1,ENST00000371372.1,ENST00000277549.5,ENST00000371355.4 |
| exon_skip_502272 | 9 | 140991005:140991063:140995555:140995652:141000150:141000230 | 140995555:140995652 | ENSG00000148408.8 | ENST00000413253.1,ENST00000371365.2 |
| exon_skip_502273 | 9 | 140991005:140991063:140997162:140997259:141000150:141000230 | 140997162:140997259 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371357.1,ENST00000371363.1,ENST00000371372.1,ENST00000277549.5,ENST00000371355.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CACNA1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_502249 | 9 | 140852049:140852139:140865834:140866044:140870358:140870471 | 140865834:140866044 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1,ENST00000277549.5,ENST00000371363.1,ENST00000371357.1,ENST00000371355.4 |
| exon_skip_502250 | 9 | 140907580:140907687:140911590:140911653:140917462:140917562 | 140911590:140911653 | ENSG00000148408.8 | ENST00000277550.3 |
| exon_skip_502255 | 9 | 140919406:140919624:140934998:140935124:140938225:140938352 | 140934998:140935124 | ENSG00000148408.8 | ENST00000545473.1 |
| exon_skip_502256 | 9 | 140919406:140919624:140938225:140938352:140941355:140941485 | 140938225:140938352 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1,ENST00000277549.5,ENST00000371363.1,ENST00000371357.1,ENST00000371355.4 |
| exon_skip_502258 | 9 | 140941355:140941485:140941850:140941910:140943660:140943749 | 140941850:140941910 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1,ENST00000277549.5,ENST00000371363.1,ENST00000371357.1,ENST00000371355.4,ENST00000545473.1 |
| exon_skip_502259 | 9 | 140943660:140943767:140944526:140944538:140946543:140946640 | 140944526:140944538 | ENSG00000148408.8 | ENST00000277549.5 |
| exon_skip_502263 | 9 | 140954105:140954189:140964209:140964215:140967939:140968056 | 140964209:140964215 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1 |
| exon_skip_502264 | 9 | 140954105:140954189:140967939:140968056:140968452:140968518 | 140967939:140968056 | ENSG00000148408.8 | ENST00000277549.5,ENST00000371363.1,ENST00000371357.1 |
| exon_skip_502266 | 9 | 140972565:140972710:140990935:140991063:140997162:140997259 | 140990935:140991063 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1,ENST00000277549.5,ENST00000371363.1,ENST00000371357.1,ENST00000371355.4 |
| exon_skip_502272 | 9 | 140991005:140991063:140995555:140995652:141000150:141000230 | 140995555:140995652 | ENSG00000148408.8 | ENST00000371365.2,ENST00000413253.1 |
| exon_skip_502273 | 9 | 140991005:140991063:140997162:140997259:141000150:141000230 | 140997162:140997259 | ENSG00000148408.8 | ENST00000277551.2,ENST00000371372.1,ENST00000277549.5,ENST00000371363.1,ENST00000371357.1,ENST00000371355.4 |
| 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 CACNA1B |
| 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 |
| ENST00000371372 | 140938225 | 140938352 | Frame-shift |
| ENST00000371372 | 140990935 | 140991063 | Frame-shift |
| ENST00000371372 | 140997162 | 140997259 | Frame-shift |
| ENST00000371372 | 140865834 | 140866044 | In-frame |
| ENST00000371372 | 140941850 | 140941910 | In-frame |
| ENST00000371372 | 140953020 | 140953185 | In-frame |
| ENST00000371372 | 140964209 | 140964215 | 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 |
| ENST00000371372 | 140938225 | 140938352 | Frame-shift |
| ENST00000371372 | 140990935 | 140991063 | Frame-shift |
| ENST00000371372 | 140997162 | 140997259 | Frame-shift |
| ENST00000371372 | 140865834 | 140866044 | In-frame |
| ENST00000371372 | 140941850 | 140941910 | In-frame |
| ENST00000371372 | 140964209 | 140964215 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CACNA1B |
| 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 |
| ENST00000371372 | 9807 | 2339 | 140865834 | 140866044 | 1479 | 1688 | 444 | 514 |
| ENST00000371372 | 9807 | 2339 | 140941850 | 140941910 | 3689 | 3748 | 1181 | 1201 |
| ENST00000371372 | 9807 | 2339 | 140953020 | 140953185 | 4454 | 4618 | 1436 | 1491 |
| 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 |
| ENST00000371372 | 9807 | 2339 | 140865834 | 140866044 | 1479 | 1688 | 444 | 514 |
| ENST00000371372 | 9807 | 2339 | 140941850 | 140941910 | 3689 | 3748 | 1181 | 1201 |
| 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 |
| Q00975 | 444 | 514 | 1 | 2339 | Chain | ID=PRO_0000053921;Note=Voltage-dependent N-type calcium channel subunit alpha-1B |
| Q00975 | 444 | 514 | 451 | 458 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 444 | 514 | 468 | 712 | Repeat | Note=II |
| Q00975 | 444 | 514 | 357 | 482 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 444 | 514 | 502 | 516 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 444 | 514 | 483 | 501 | Transmembrane | Note=Helical%3B Name%3DS1 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1181 | 1201 | 1 | 2339 | Chain | ID=PRO_0000053921;Note=Voltage-dependent N-type calcium channel subunit alpha-1B |
| Q00975 | 1181 | 1201 | 1137 | 1419 | Repeat | Note=III |
| Q00975 | 1181 | 1201 | 1170 | 1185 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1181 | 1201 | 1186 | 1205 | Transmembrane | Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1436 | 1491 | 1 | 2339 | Chain | ID=PRO_0000053921;Note=Voltage-dependent N-type calcium channel subunit alpha-1B |
| Q00975 | 1436 | 1491 | 1436 | 1436 | Natural variant | ID=VAR_048742;Note=E->K;Dbxref=dbSNP:rs12377346 |
| Q00975 | 1436 | 1491 | 1456 | 1711 | Repeat | Note=IV |
| Q00975 | 1436 | 1491 | 1417 | 1471 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1436 | 1491 | 1491 | 1505 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1436 | 1491 | 1472 | 1490 | Transmembrane | Note=Helical%3B Name%3DS1 of repeat IV;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 |
| Q00975 | 444 | 514 | 1 | 2339 | Chain | ID=PRO_0000053921;Note=Voltage-dependent N-type calcium channel subunit alpha-1B |
| Q00975 | 444 | 514 | 451 | 458 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 444 | 514 | 468 | 712 | Repeat | Note=II |
| Q00975 | 444 | 514 | 357 | 482 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 444 | 514 | 502 | 516 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 444 | 514 | 483 | 501 | Transmembrane | Note=Helical%3B Name%3DS1 of repeat II;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1181 | 1201 | 1 | 2339 | Chain | ID=PRO_0000053921;Note=Voltage-dependent N-type calcium channel subunit alpha-1B |
| Q00975 | 1181 | 1201 | 1137 | 1419 | Repeat | Note=III |
| Q00975 | 1181 | 1201 | 1170 | 1185 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q00975 | 1181 | 1201 | 1186 | 1205 | Transmembrane | Note=Helical%3B Name%3DS2 of repeat III;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CACNA1B |
| - 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 |
| BRCA | TCGA-BH-A0BM-01 | exon_skip_502249 | 140865835 | 140866044 | 140866030 | 140866030 | Frame_Shift_Del | T | - | p.T511fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_502256 | 140938226 | 140938352 | 140938299 | 140938299 | Frame_Shift_Del | C | - | p.G312fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_502261 | 140953021 | 140953185 | 140953126 | 140953126 | Frame_Shift_Del | C | - | p.P668fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_502266 | 140990936 | 140991063 | 140990953 | 140990953 | Frame_Shift_Del | G | - | p.V898fs |
| LUAD | TCGA-NJ-A4YP-01 | exon_skip_502272 | 140995556 | 140995652 | 140995585 | 140995586 | Frame_Shift_Ins | - | T | p.I115fs |
| BLCA | TCGA-UY-A9PF-01 | exon_skip_502249 | 140865835 | 140866044 | 140865958 | 140865958 | Nonsense_Mutation | G | A | p.W486* |
| BLCA | TCGA-FT-A61P-01 | exon_skip_502250 | 140911591 | 140911653 | 140911629 | 140911629 | Nonsense_Mutation | C | G | p.S60* |
| LUAD | TCGA-NJ-A4YI-01 | exon_skip_502261 | 140953021 | 140953185 | 140953137 | 140953137 | Nonsense_Mutation | C | A | p.Y671* |
| SKCM | TCGA-D9-A1JW-06 | exon_skip_502266 | 140990936 | 140991063 | 140991040 | 140991040 | Nonsense_Mutation | G | A | p.W1733X |
| SKCM | TCGA-D9-A1JW-06 | exon_skip_502266 | 140990936 | 140991063 | 140991040 | 140991040 | Nonsense_Mutation | G | A | p.W927* |
| STAD | TCGA-CG-5721-01 | exon_skip_502264 | 140967940 | 140968056 | 140968057 | 140968057 | Splice_Site | G | A | . |
| STAD | TCGA-CG-5721-01 | exon_skip_502264 | 140967940 | 140968056 | 140968057 | 140968057 | Splice_Site | G | A | p.K1597_splice |
| - 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 |
| HKA1_SKIN | 140865835 | 140866044 | 140865870 | 140865870 | Frame_Shift_Del | A | - | p.K457fs |
| HT115_LARGE_INTESTINE | 140865835 | 140866044 | 140865846 | 140865846 | Missense_Mutation | G | A | p.A449T |
| HCC2450_LUNG | 140865835 | 140866044 | 140865876 | 140865876 | Missense_Mutation | G | C | p.E459Q |
| SNU1040_LARGE_INTESTINE | 140865835 | 140866044 | 140865895 | 140865895 | Missense_Mutation | G | A | p.R465Q |
| SNB75_CENTRAL_NERVOUS_SYSTEM | 140865835 | 140866044 | 140866023 | 140866023 | Missense_Mutation | C | T | p.R508W |
| PACADD137_PANCREAS | 140938226 | 140938352 | 140938270 | 140938270 | Missense_Mutation | G | A | p.V1111M |
| NCIH1436_LUNG | 140938226 | 140938352 | 140938280 | 140938280 | Missense_Mutation | A | T | p.D1114V |
| NCIH2342_LUNG | 140938226 | 140938352 | 140938300 | 140938300 | Missense_Mutation | C | A | p.P1121T |
| HCC1143_BREAST | 140938226 | 140938352 | 140938312 | 140938312 | Missense_Mutation | G | A | p.V1125I |
| HEC251_ENDOMETRIUM | 140938226 | 140938352 | 140938312 | 140938312 | Missense_Mutation | G | A | p.V1125I |
| HCC1143_MATCHED_NORMAL_TISSUE | 140938226 | 140938352 | 140938312 | 140938312 | Missense_Mutation | G | A | p.V1125I |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 140941851 | 140941910 | 140941876 | 140941876 | Missense_Mutation | T | A | p.F1190Y |
| HEC59_ENDOMETRIUM | 140953021 | 140953185 | 140953067 | 140953067 | Missense_Mutation | A | G | p.Y1452C |
| HEC6_ENDOMETRIUM | 140953021 | 140953185 | 140953091 | 140953091 | Missense_Mutation | T | A | p.F1460Y |
| SNU1040_LARGE_INTESTINE | 140953021 | 140953185 | 140953147 | 140953147 | Missense_Mutation | G | A | p.A1479T |
| SW626_OVARY | 140967940 | 140968056 | 140967967 | 140967967 | Missense_Mutation | C | T | p.R1568C |
| OC316_OVARY | 140967940 | 140968056 | 140967983 | 140967983 | Missense_Mutation | C | T | p.A1573V |
| OC314_OVARY | 140967940 | 140968056 | 140967983 | 140967983 | Missense_Mutation | C | T | p.A1573V |
| SNU1040_LARGE_INTESTINE | 140967940 | 140968056 | 140968004 | 140968004 | Missense_Mutation | G | A | p.R1580H |
| SW756_CERVIX | 140990936 | 140991063 | 140991020 | 140991020 | Missense_Mutation | G | C | p.D1727H |
| KYAE1_OESOPHAGUS | 140990936 | 140991063 | 140991025 | 140991025 | Missense_Mutation | G | C | p.E1728D |
| RKO_LARGE_INTESTINE | 140990936 | 140991063 | 140991040 | 140991040 | Missense_Mutation | G | T | p.W1733C |
| HEC251_ENDOMETRIUM | 140997163 | 140997259 | 140997173 | 140997173 | Missense_Mutation | A | T | p.S1745C |
| MELHO_SKIN | 140997163 | 140997259 | 140997180 | 140997180 | Missense_Mutation | A | G | p.N1747S |
| HCT116_LARGE_INTESTINE | 140997163 | 140997259 | 140997183 | 140997183 | Missense_Mutation | A | G | p.D1748G |
| ACCMESO1_PLEURA | 140997163 | 140997259 | 140997206 | 140997206 | Missense_Mutation | A | T | p.M1756L |
| MET2B | 140953021 | 140953185 | 140953107 | 140953107 | Nonsense_Mutation | G | A | p.W1465* |
| SKMEL31_SKIN | 140997163 | 140997259 | 140997163 | 140997164 | Splice_Site | TG | CA | p.G1742R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CACNA1B |
| 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 CACNA1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CACNA1B |
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RelatedDrugs for CACNA1B |
| 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 |
| Q00975 | DB00381 | Amlodipine | Voltage-dependent N-type calcium channel subunit alpha-1B | small molecule | approved | |
| Q00975 | DB00661 | Verapamil | Voltage-dependent N-type calcium channel subunit alpha-1B | small molecule | approved | |
| Q00975 | DB00996 | Gabapentin | Voltage-dependent N-type calcium channel subunit alpha-1B | small molecule | approved|investigational | |
| Q00975 | DB01202 | Levetiracetam | Voltage-dependent N-type calcium channel subunit alpha-1B | small molecule | approved|investigational |
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RelatedDiseases for CACNA1B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CACNA1B | C0036341 | Schizophrenia | 2 | PSYGENET |
| CACNA1B | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| CACNA1B | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| CACNA1B | C3538999 | DYSTONIA 23 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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