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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CACNA1D-GOLGB1 (FusionGDB2 ID:12370)

Fusion Gene Summary for CACNA1D-GOLGB1

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA1D-GOLGB1
Fusion gene ID: 12370
HgeneTgene
Gene symbol

CACNA1D

GOLGB1

Gene ID

776

2804

Gene namecalcium voltage-gated channel subunit alpha1 Dgolgin B1
SynonymsCACH3|CACN4|CACNL1A2|CCHL1A2|Cav1.3|PASNA|SANDDGCP|GCP372|GOLIM1
Cytomap

3p21.1

3q13.33

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent L-type calcium channel subunit alpha-1Dcalcium channel, L type, alpha-1 polypeptidecalcium channel, neuroendocrine/brain-type, alpha 1 subunitcalcium channel, voltage-dependent, L type, alpha 1D subunitvoltage-gated calcium channel agolgin subfamily B member 1372 kDa Golgi complex-associated proteingiantingolgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1golgi integral membrane protein 1golgin B1, golgi integral membrane protein
Modification date2020031320200313
UniProtAcc

Q01668

Q14789

Ensembl transtripts involved in fusion geneENST00000350061, ENST00000288139, 
ENST00000422281, ENST00000498251, 
ENST00000540742, ENST00000544977, 
ENST00000340645, ENST00000393667, 
ENST00000472829, 
Fusion gene scores* DoF score11 X 9 X 5=49512 X 11 X 4=528
# samples 1513
** MAII scorelog2(15/495*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/528*10)=-2.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNA1D [Title/Abstract] AND GOLGB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNA1D(53603113)-GOLGB1(121413968), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCACNA1D

GO:0006816

calcium ion transport

11160515

HgeneCACNA1D

GO:0051928

positive regulation of calcium ion transport

1309651

HgeneCACNA1D

GO:0070509

calcium ion import

1309651


check buttonFusion gene breakpoints across CACNA1D (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GOLGB1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AFN165480CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-


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Fusion Gene ORF analysis for CACNA1D-GOLGB1

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000350061ENST00000340645CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000350061ENST00000393667CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-intronENST00000350061ENST00000472829CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000288139ENST00000340645CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000288139ENST00000393667CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-intronENST00000288139ENST00000472829CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000422281ENST00000340645CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000422281ENST00000393667CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-intronENST00000422281ENST00000472829CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000498251ENST00000340645CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000498251ENST00000393667CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-intronENST00000498251ENST00000472829CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000540742ENST00000340645CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000540742ENST00000393667CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-intronENST00000540742ENST00000472829CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000544977ENST00000340645CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-3CDSENST00000544977ENST00000393667CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-
intron-intronENST00000544977ENST00000472829CACNA1Dchr3

53603113

-GOLGB1chr3

121413968

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CACNA1D-GOLGB1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CACNA1D-GOLGB1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CACNA1D

Q01668

GOLGB1

Q14789

FUNCTION: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1D gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. {ECO:0000269|PubMed:18482979, ECO:0000269|PubMed:25620733, ECO:0000269|PubMed:28472301}.FUNCTION: May participate in forming intercisternal cross-bridges of the Golgi complex.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for CACNA1D-GOLGB1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CACNA1D-GOLGB1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CACNA1D-GOLGB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCACNA1DQ01668DB00401NisoldipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB00401NisoldipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB00401NisoldipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB00401NisoldipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB00401NisoldipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB00898EthanolSmall moleculeApproved
HgeneCACNA1DQ01668DB00898EthanolSmall moleculeApproved
HgeneCACNA1DQ01668DB00898EthanolSmall moleculeApproved
HgeneCACNA1DQ01668DB00898EthanolSmall moleculeApproved
HgeneCACNA1DQ01668DB00898EthanolSmall moleculeApproved
HgeneCACNA1DQ01668DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB01115NifedipineInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB04855DronedaroneInhibitorSmall moleculeApproved
HgeneCACNA1DQ01668DB00270IsradipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00270IsradipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00270IsradipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00270IsradipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00270IsradipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00393NimodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00568CinnarizineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00568CinnarizineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00568CinnarizineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00568CinnarizineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00568CinnarizineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00622NicardipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00622NicardipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00622NicardipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00622NicardipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB00622NicardipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01023FelodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01023FelodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01023FelodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01023FelodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01023FelodipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01054NitrendipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01054NitrendipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01054NitrendipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01054NitrendipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB01054NitrendipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB04920ClevidipineSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB04920ClevidipineSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB04920ClevidipineSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB04920ClevidipineSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB04920ClevidipineSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB06712NilvadipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB06712NilvadipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB06712NilvadipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB06712NilvadipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB06712NilvadipineInhibitorSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB09237LevamlodipineAntagonistSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB09237LevamlodipineAntagonistSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB09237LevamlodipineAntagonistSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB09237LevamlodipineAntagonistSmall moleculeApproved|Investigational
HgeneCACNA1DQ01668DB09237LevamlodipineAntagonistSmall moleculeApproved|Investigational

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Related Diseases for CACNA1D-GOLGB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA1DC3554018SINOATRIAL NODE DYSFUNCTION AND DEAFNESS5CLINGEN;GENOMICS_ENGLAND;ORPHANET
HgeneCACNA1DC0001430Adenoma2CTD_human
HgeneCACNA1DC0205646Adenoma, Basal Cell2CTD_human
HgeneCACNA1DC0205647Follicular adenoma2CTD_human
HgeneCACNA1DC0205648Adenoma, Microcystic2CTD_human
HgeneCACNA1DC0205649Adenoma, Monomorphic2CTD_human
HgeneCACNA1DC0205650Papillary adenoma2CTD_human
HgeneCACNA1DC0205651Adenoma, Trabecular2CTD_human
HgeneCACNA1DC3809609PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES2GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCACNA1DC0004331Auriculo-Ventricular Dissociation1CTD_human
HgeneCACNA1DC0005586Bipolar Disorder1CTD_human
HgeneCACNA1DC0005587Depression, Bipolar1CTD_human
HgeneCACNA1DC0011052Prelingual Deafness1CTD_human
HgeneCACNA1DC0011053Deafness1CTD_human
HgeneCACNA1DC0018794Heart Block1CTD_human
HgeneCACNA1DC0020428Hyperaldosteronism1CTD_human
HgeneCACNA1DC0024713Manic Disorder1CTD_human
HgeneCACNA1DC0037052Sick Sinus Syndrome1CTD_human
HgeneCACNA1DC0039240Supraventricular tachycardia1CTD_human
HgeneCACNA1DC0086395Hearing Loss, Extreme1CTD_human
HgeneCACNA1DC0338831Manic1CTD_human
HgeneCACNA1DC0428908Sinus Node Dysfunction (disorder)1CTD_human
HgeneCACNA1DC0428977Bradycardia1CTD_human
HgeneCACNA1DC0525045Mood Disorders1PSYGENET
HgeneCACNA1DC0581883Complete Hearing Loss1CTD_human
HgeneCACNA1DC0751068Deafness, Acquired1CTD_human
HgeneCACNA1DC1384514Conn Syndrome1CTD_human
HgeneCACNA1DC3665473Bilateral Deafness1CTD_human
HgeneCACNA1DC4082305Deaf Mutism1CTD_human