Fusion partner gene information | Fusion gene name: LUC7L3-CACNA1H |
FusionPDB ID: 50341 | FusionGDB2.0 ID: 50341 | | Hgene | Tgene | Gene symbol | LUC7L3 | CACNA1H | Gene ID | 51747 | 8912 | Gene name | LUC7 like 3 pre-mRNA splicing factor | calcium voltage-gated channel subunit alpha1 H |
Synonyms | CRA|CREAP-1|CROP|LUC7A|OA48-18|hLuc7A | CACNA1HB|Cav3.2|ECA6|EIG6|HALD4 |
Cytomap | 17q21.33 | 16p13.3 |
Type of gene | protein-coding | protein-coding |
Description | luc7-like protein 3CRE-associated protein 1LUC7-like 3cAMP regulatory element-associated protein 1cisplatin resistance-associated-overexpressed proteinokadaic acid-inducible phosphoprotein OA48-18 | voltage-dependent T-type calcium channel subunit alpha-1Hcalcium channel, voltage-dependent, T type, alpha 1H subunitcalcium channel, voltage-dependent, T type, alpha 1Hb subunitlow-voltage-activated calcium channel alpha1 3.2 subunitlow-voltage-activ |
Modification date | 20200313 | 20200313 |
UniProtAcc | O95232 Main function of 5'-partner protein: FUNCTION: Binds cAMP regulatory element DNA sequence. May play a role in RNA splicing. {ECO:0000269|PubMed:16462885}. | O95180 Main function of 5'-partner protein: FUNCTION: Voltage-sensitive calcium channel that gives rise to T-type calcium currents. T-type calcium channels belong to the 'low-voltage activated (LVA)' group. A particularity of this type of channel is an opening at quite negative potentials, and a voltage-dependent inactivation (PubMed:9670923, PubMed:9930755, PubMed:27149520). T-type channels serve pacemaking functions in both central neurons and cardiac nodal cells and support calcium signaling in secretory cells and vascular smooth muscle (Probable). They may also be involved in the modulation of firing patterns of neurons (PubMed:15048902). In the adrenal zona glomerulosa, participates in the signaling pathway leading to aldosterone production in response to either AGT/angiotensin II, or hyperkalemia (PubMed:25907736, PubMed:27729216). {ECO:0000269|PubMed:24277868, ECO:0000269|PubMed:25907736, ECO:0000269|PubMed:27149520, ECO:0000269|PubMed:27729216, ECO:0000269|PubMed:9670923, ECO:0000269|PubMed:9930755, ECO:0000305, ECO:0000305|PubMed:15048902}. |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000240304, ENST00000393227, ENST00000505658, ENST00000544170, ENST00000311571, ENST00000503798,
| ENST00000348261, ENST00000358590, ENST00000565831, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 18 X 13 X 8=1872 | 9 X 9 X 4=324 |
# samples | 22 | 9 |
** MAII score | log2(22/1872*10)=-3.08900500605875 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/324*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Fusion gene context | PubMed: LUC7L3 [Title/Abstract] AND CACNA1H [Title/Abstract] AND fusion [Title/Abstract] |
Fusion neoantigen context | PubMed: LUC7L3 [Title/Abstract] AND CACNA1H [Title/Abstract] AND neoantigen [Title/Abstract] |
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | LUC7L3(48819092)-CACNA1H(1251662), # samples:1
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Anticipated loss of major functional domain due to fusion event. | LUC7L3-CACNA1H seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. LUC7L3-CACNA1H seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. LUC7L3-CACNA1H seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. LUC7L3-CACNA1H seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1291_1313 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS1 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1332_1352 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS2 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1363_1382 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS3 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1397_1418 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS4 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1429_1452 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS5 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1530_1555 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS6 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1617_1637 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS1 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1652_1673 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS2 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1681_1699 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS3 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1714_1737 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS4 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1752_1772 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS5 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 1836_1863 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS6 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 794_814 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS1 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 828_849 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS2 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 856_874 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS3 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 883_906 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS4 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 918_938 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS5 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000348261 | | 7 | 35 | 991_1015 | 0 | 2354.0 | Transmembrane | Helical%3B Name%3DS6 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1291_1313 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS1 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1332_1352 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS2 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1363_1382 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS3 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1397_1418 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS4 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1429_1452 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS5 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1530_1555 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS6 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1617_1637 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS1 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1652_1673 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS2 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1681_1699 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS3 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1714_1737 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS4 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1752_1772 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS5 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 1836_1863 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS6 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 794_814 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS1 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 828_849 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS2 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 856_874 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS3 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 883_906 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS4 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 918_938 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS5 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000358590 | | 7 | 34 | 991_1015 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS6 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1291_1313 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS1 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1332_1352 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS2 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1363_1382 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS3 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1397_1418 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS4 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1429_1452 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS5 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1530_1555 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS6 of repeat III |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1617_1637 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS1 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1652_1673 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS2 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1681_1699 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS3 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1714_1737 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS4 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1752_1772 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS5 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 1836_1863 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS6 of repeat IV |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 794_814 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS1 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 828_849 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS2 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 856_874 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS3 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 883_906 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS4 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 918_938 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS5 of repeat II |
Tgene | CACNA1H | chr17:48819092 | chr16:1251662 | ENST00000565831 | | 6 | 33 | 991_1015 | 0 | 2348.0 | Transmembrane | Helical%3B Name%3DS6 of repeat II |