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in Kim Lab

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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:CACNA2D1-NAALADL2 (FusionGDB2 ID:HG781TG254827)

Fusion Gene Summary for CACNA2D1-NAALADL2

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA2D1-NAALADL2
Fusion gene ID: hg781tg254827
HgeneTgene
Gene symbol

CACNA2D1

NAALADL2

Gene ID

781

254827

Gene namecalcium voltage-gated channel auxiliary subunit alpha2delta 1N-acetylated alpha-linked acidic dipeptidase like 2
SynonymsCACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3-
Cytomap('CACNA2D1')('NAALADL2')

7q21.11

3q26.31

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent calcium channel subunit alpha-2/delta-1calcium channel, L type, alpha 2 polypeptidecalcium channel, voltage-dependent, alpha 2/delta subunit 1dihydropyridine-sensitive L-type, calcium channel alpha-2/delta subunitvoltage-gated calciuinactive N-acetylated-alpha-linked acidic dipeptidase-like protein 2N-acetylated alpha-linked acidic dipeptidase 2NAALADase L2glutamate carboxypeptidase II-type non-peptidase homologue
Modification date2020031320200313
UniProtAcc.

Q58DX5

Ensembl transtripts involved in fusion geneENST00000356253, ENST00000356860, 
ENST00000423588, ENST00000464354, 
ENST00000535308, 
Fusion gene scores* DoF score6 X 8 X 4=19221 X 16 X 9=3024
# samples 924
** MAII scorelog2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/3024*10)=-3.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNA2D1 [Title/Abstract] AND NAALADL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNA2D1(81964451)-NAALADL2(175455094), # samples:3
Anticipated loss of major functional domain due to fusion event.CACNA2D1-NAALADL2 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.
CACNA2D1-NAALADL2 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.
* 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
HgeneCACNA2D1

GO:0006816

calcium ion transport

1309651|11160515

HgeneCACNA2D1

GO:0051924

regulation of calcium ion transport

1309651


check buttonFusion gene breakpoints across CACNA2D1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across NAALADL2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4HNSCTCGA-CN-4723-01ACACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
ChimerDB4HNSCTCGA-CN-4723CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+


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Fusion Gene ORF analysis for CACNA2D1-NAALADL2

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
5CDS-intronENST00000356253ENST00000473253CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
5CDS-intronENST00000356860ENST00000473253CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
5CDS-intronENST00000423588ENST00000473253CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
In-frameENST00000356253ENST00000454872CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
In-frameENST00000356860ENST00000454872CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
In-frameENST00000423588ENST00000454872CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
intron-3CDSENST00000464354ENST00000454872CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
intron-3CDSENST00000535308ENST00000454872CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
intron-intronENST00000464354ENST00000473253CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+
intron-intronENST00000535308ENST00000473253CACNA2D1chr7

81964451

-NAALADL2chr3

175455094

+

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)
ENST00000356860CACNA2D1chr781964451-ENST00000454872NAALADL2chr3175455094+35626333391124261
ENST00000356253CACNA2D1chr781964451-ENST00000454872NAALADL2chr3175455094+34795502561041261
ENST00000423588CACNA2D1chr781964451-ENST00000454872NAALADL2chr3175455094+34805512571042261

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
ENST00000356860ENST00000454872CACNA2D1chr781964451-NAALADL2chr3175455094+0.0004583390.99954164
ENST00000356253ENST00000454872CACNA2D1chr781964451-NAALADL2chr3175455094+0.0004172620.9995827
ENST00000423588ENST00000454872CACNA2D1chr781964451-NAALADL2chr3175455094+0.000417970.999582

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Fusion Genomic Features for CACNA2D1-NAALADL2


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)
CACNA2D1chr781964450-NAALADL2chr3175455093+3.36E-081
CACNA2D1chr781964450-NAALADL2chr3175455093+3.36E-081
CACNA2D1chr781964450-NAALADL2chr3175455093+3.36E-081
CACNA2D1chr781964450-NAALADL2chr3175455093+3.36E-081

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for CACNA2D1-NAALADL2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:81964451/chr3:175455094)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.NAALADL2

Q58DX5

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: May be catalytically inactive.

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
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356253-339253_430981104.0DomainVWFA
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356253-339446_556981104.0DomainNote=Cache
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356860-339253_430981092.0DomainVWFA
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356860-339446_556981092.0DomainNote=Cache
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356253-339259_263981104.0MotifNote=MIDAS-like motif
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356860-339259_263981092.0MotifNote=MIDAS-like motif
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356253-3391095_1103981104.0Topological domainCytoplasmic
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356253-33925_1073981104.0Topological domainExtracellular
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356860-3391095_1103981092.0Topological domainCytoplasmic
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356860-33925_1073981092.0Topological domainExtracellular
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356253-3391074_1094981104.0TransmembraneHelical
HgeneCACNA2D1chr7:81964451chr3:175455094ENST00000356860-3391074_1094981092.0TransmembraneHelical
TgeneNAALADL2chr7:81964451chr3:175455094ENST000004548721014143_795632796.0Topological domainExtracellular
TgeneNAALADL2chr7:81964451chr3:175455094ENST0000045487210141_121632796.0Topological domainCytoplasmic
TgeneNAALADL2chr7:81964451chr3:175455094ENST000004548721014122_142632796.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for CACNA2D1-NAALADL2


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.
>12355_12355_1_CACNA2D1-NAALADL2_CACNA2D1_chr7_81964451_ENST00000356253_NAALADL2_chr3_175455094_ENST00000454872_length(transcript)=3479nt_BP=550nt
CGGCGGAGGCAAGGCGGCCGCGGCGCGGAGCAGCCGACGCACGCTAGTGGGTCCGCCCGCCACCGCCCCTTCCTCGGCGTCCGCTCCCGC
CCTTGCCGTCCCCCGCGCGGCTCCGCGCCTCGGGCCCCGGGCGCAGCCAGCCCTCCAGACGCCCGCGGTCCCGGCGGCGTGTGCTGCTCT
TCCTCCGCCCGCGGTTTCCAGCGCCGCTCCTTCCCCCGCTTGGGCAGGGAGGGGGCATTGATCTTCGATCGCGAAGATGGCTGCTGGCTG
CCTGCTGGCCTTGACTCTGACACTTTTCCAATCTTTGCTCATCGGCCCCTCGTCGGAGGAGCCGTTCCCTTCGGCCGTCACTATCAAATC
ATGGGTGGATAAGATGCAAGAAGACCTTGTCACACTGGCAAAAACAGCAAGTGGAGTCAATCAGCTTGTTGATATTTATGAGAAATATCA
AGATTTGTATACTGTGGAACCAAATAATGCACGCCAGCTGGTAGAAATTGCAGCCAGGGATATTGAGAAACTTCTGAGCAACAGATCTAA
AGCCCTGGTGCTCTCAGGAGAAGTGATTTTGCAAATTGCCAACGAACCTGTTCTGCCCTTTAATGCACTTGATATAGCTTTAGAAGTTCA
AAACAACCTTAAAGGTGATCAACCCAACACTCATCAACTGTTAGCCATGGCGTTACGCCTGCGGGAGAGTGCTGAACTTTTTCAGTCTGA
TGAGATGCGACCTGCTAATGATCCCAAGGAGAGAGCACCCATCCGCATCCGGATGCTGAATGACATTCTCCAAGACATGGAGAAAAGCTT
TCTGGTAAAGCAGGCACCACCAGGTTTTTATAGAAACATCCTCTACCACCTTGATGAAAAGACAAGCCGGTTTTCAATACTTATAGAGGC
TTGGGAACACTGCAAACCCCTTGCATCAAATGAGACCCTTCAAGAAGCCCTGTCAGAGGTGTTGAACAGCATTAATTCAGCTCAGGTTTA
CTTCAAAGCAGGACTTGATGTGTTCAAGAGTGTCTTGGATGGGAAGAATTGAGAAAACTCTGAGCATTTTTAAAAGTTTGTTTACAATTC
CACAAGCAAAAGCTCTAATTTAACCAGATTTTCTGACATTGAAGGCTTATTTTCCCCAATGGCTTTTTGACAAGTATAAAGCTATTATTA
CATTGTATTTTTTAAATGTAAATATAGAAAGAACATTTTGCACATTTAATATTTTTCTTATATCTACATTTCTGAATATGTAAAGCAAGT
TATTGAAATAGGACTTAAGAATTACCTATTAAAAAGAAATCTGATATATAAAAATATGTACTATTTTAAGGAAAAATTTCCAAGAAGTTC
TGGACTATCTTTGTTCCTATGGGGAGGGCATATAGGAACACAGTTTATTCTCTCTGATAGAGCTATTAATGACTTAGTTTCTGTAAAAGA
AATGGAGAGTTGATATGGTTCAGATTAACTTCACTATTAAGTGTTCAATATGAAGAATTCAAGTATTCTGACTGAGTGATTGGTTGACCT
AAACCACTTTGAATGTTTCTATTTTATGAAATGAAGTTTCTCTTCTTAACACAACTAGATGTAGTAATACACTGGTTATGAAATTGTATT
TTTTTAAGTATTAATGAAAAAAGAGCCATAAGCATTCCAGGAGAAAATCTCAAGGGAGCTACATAGAGCAATTTAAATGCAAATTTTTTT
CCTAACAACTTACAAGGTGACTAGCTTTGAAACCCCTAATTTGCCTCAGTTGATTTTCTAAGAATTTCAGGAGTGATGTATGTCTTAAGA
GGGAGAAAAAAATATTTCTTATTACTTTTTCTCTTGTTTCTGTTGGAAACACTGAAGCAGGGACTCTAAAATGAAAGCATCTCACATTGG
TTTTCTTTCTTGTATCTTTTCTGAAACTCCTTGCTGTAAGGCAGCTTTCTCAGAGTACTATATATTTTCAACAGTAAAGTAGCAGAGTTT
CTCTTTGAAACCCAAAATGTCTTCTAAAGAATCAAATTTCTATTTCTGCCTCTGACAAAAAGAACTTACTATGAAAGAAATAGTTGTTTT
ATCAATAAAAGCCCCTTAATATTATGAAGAAACTTTTCATATTTTTTCTTCTTTATCCTTAATTGTGACTAAGATGGAAATCTAGAAAAT
ATTCATGCTTCTAAGTTTCTGCAGTGTTACTGTAAGAGAGTGTCTCGTCTACACTTCAGTTCTTCTCTCATGTGGAAAACTAAGCTTTTT
ATATTGACATTGCCATTGAATAGCTCTAGCAACTATTATTATTCCCCCAAACCCTAAAATTCTACCTATTAGGTGTCAGGTTAAAGTTCT
AATTTATCTTTAGAAATTTATGTGAAAAATGGTTTTCCTATACTGGATAAAGCAATTCCCCTTAGGAAACATAGCCTCAGAGTATTTCAT
ATAAATTTTCTCTATCTAATTCAAACATATCTCCCCATGATACACCGCCAGAGTGACATTGCAGACAGTCTGTGTATGTTTAAATTTTCA
CTTTTTATGGATGAGCATAAACCTAGTCTTAGTTTAAAGGCAAACTAAAGTTGAGGGGAAATAATTAATCAATACTGATTAATTGATTTA
TAAGGTTCAACACTGTCTACCCTAAATAATTTTTATATGCTCAAGGCAAAGCAGGGAATAGAGGCAATTAGCTAGATAATTCAAGCAGAA
ATCCATTTTCATCGAAATTGCCTGTGTGCACATATTTTTAGATGAAAAATGAAACTACCTTACAATATTATTTTTTTAACCAATGTATTT
GTTTGCAAACATTTGCCATGTTGAAGAGTGTGTATAGGAAAGGTCTAGAAATAAATAGGCTTGTGCATACCTAGGCATTCATGCTCTTTC
TTCCTCTTCAGAGATCATCAGAAAAGAGGTGGGAATACACAAGCAGGTGCATGTAAGCCCAAAAGCTAGAAAGCCTTATATTTAACCAAA
GGTTGATGTGTTCATTCCAGTTATTCACTTACAGATGAAACTAAAACAAATAAAGGCAAGCTATTATCAGTTTGGTAGTTCATTATTTTA
GAACAAATTTCTAAATTAATTTATTCCCATAACCTACAATAGCACTGAGAACAGAAAACATGTTTCTTCTTCATTTTGTTTAAAGATTGC
GTACCTAGGTAAGTCACACTGTATAGATAAAAACCTTCTTCTGTATTCCTCACCTCTAAATTATATGTTATTTGCTATTTGAAAACTGTA
GTTAACTATGGTTTTTTATTAGTCTATTAAAAGATACGTGGAGATATTAAATTATACCTAAAGCAGACGTCCAACAAATTCTGTACATGC
TGCTTTACATCTTTGCAACAAACCTCTTAACTAGCAGCATTATTTCTATAGTGTGATTACCTGAGGGTGCCTCCAAATGTATATCATTTC

>12355_12355_1_CACNA2D1-NAALADL2_CACNA2D1_chr7_81964451_ENST00000356253_NAALADL2_chr3_175455094_ENST00000454872_length(amino acids)=261AA_BP=93
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLL
SNRSKALVLSGEVILQIANEPVLPFNALDIALEVQNNLKGDQPNTHQLLAMALRLRESAELFQSDEMRPANDPKERAPIRIRMLNDILQD

--------------------------------------------------------------
>12355_12355_2_CACNA2D1-NAALADL2_CACNA2D1_chr7_81964451_ENST00000356860_NAALADL2_chr3_175455094_ENST00000454872_length(transcript)=3562nt_BP=633nt
AGGGAGGAAACCGAGAGGGAGAGCGAGAGCGCGCGAGCGCCGGCGGGCTCGCCGAGGTCTGTTTCCAAAGTCGCCCTTGATGGCGGCGGA
GGCAAGGCGGCCGCGGCGCGGAGCAGCCGACGCACGCTAGTGGGTCCGCCCGCCACCGCCCCTTCCTCGGCGTCCGCTCCCGCCCTTGCC
GTCCCCCGCGCGGCTCCGCGCCTCGGGCCCCGGGCGCAGCCAGCCCTCCAGACGCCCGCGGTCCCGGCGGCGTGTGCTGCTCTTCCTCCG
CCCGCGGTTTCCAGCGCCGCTCCTTCCCCCGCTTGGGCAGGGAGGGGGCATTGATCTTCGATCGCGAAGATGGCTGCTGGCTGCCTGCTG
GCCTTGACTCTGACACTTTTCCAATCTTTGCTCATCGGCCCCTCGTCGGAGGAGCCGTTCCCTTCGGCCGTCACTATCAAATCATGGGTG
GATAAGATGCAAGAAGACCTTGTCACACTGGCAAAAACAGCAAGTGGAGTCAATCAGCTTGTTGATATTTATGAGAAATATCAAGATTTG
TATACTGTGGAACCAAATAATGCACGCCAGCTGGTAGAAATTGCAGCCAGGGATATTGAGAAACTTCTGAGCAACAGATCTAAAGCCCTG
GTGCTCTCAGGAGAAGTGATTTTGCAAATTGCCAACGAACCTGTTCTGCCCTTTAATGCACTTGATATAGCTTTAGAAGTTCAAAACAAC
CTTAAAGGTGATCAACCCAACACTCATCAACTGTTAGCCATGGCGTTACGCCTGCGGGAGAGTGCTGAACTTTTTCAGTCTGATGAGATG
CGACCTGCTAATGATCCCAAGGAGAGAGCACCCATCCGCATCCGGATGCTGAATGACATTCTCCAAGACATGGAGAAAAGCTTTCTGGTA
AAGCAGGCACCACCAGGTTTTTATAGAAACATCCTCTACCACCTTGATGAAAAGACAAGCCGGTTTTCAATACTTATAGAGGCTTGGGAA
CACTGCAAACCCCTTGCATCAAATGAGACCCTTCAAGAAGCCCTGTCAGAGGTGTTGAACAGCATTAATTCAGCTCAGGTTTACTTCAAA
GCAGGACTTGATGTGTTCAAGAGTGTCTTGGATGGGAAGAATTGAGAAAACTCTGAGCATTTTTAAAAGTTTGTTTACAATTCCACAAGC
AAAAGCTCTAATTTAACCAGATTTTCTGACATTGAAGGCTTATTTTCCCCAATGGCTTTTTGACAAGTATAAAGCTATTATTACATTGTA
TTTTTTAAATGTAAATATAGAAAGAACATTTTGCACATTTAATATTTTTCTTATATCTACATTTCTGAATATGTAAAGCAAGTTATTGAA
ATAGGACTTAAGAATTACCTATTAAAAAGAAATCTGATATATAAAAATATGTACTATTTTAAGGAAAAATTTCCAAGAAGTTCTGGACTA
TCTTTGTTCCTATGGGGAGGGCATATAGGAACACAGTTTATTCTCTCTGATAGAGCTATTAATGACTTAGTTTCTGTAAAAGAAATGGAG
AGTTGATATGGTTCAGATTAACTTCACTATTAAGTGTTCAATATGAAGAATTCAAGTATTCTGACTGAGTGATTGGTTGACCTAAACCAC
TTTGAATGTTTCTATTTTATGAAATGAAGTTTCTCTTCTTAACACAACTAGATGTAGTAATACACTGGTTATGAAATTGTATTTTTTTAA
GTATTAATGAAAAAAGAGCCATAAGCATTCCAGGAGAAAATCTCAAGGGAGCTACATAGAGCAATTTAAATGCAAATTTTTTTCCTAACA
ACTTACAAGGTGACTAGCTTTGAAACCCCTAATTTGCCTCAGTTGATTTTCTAAGAATTTCAGGAGTGATGTATGTCTTAAGAGGGAGAA
AAAAATATTTCTTATTACTTTTTCTCTTGTTTCTGTTGGAAACACTGAAGCAGGGACTCTAAAATGAAAGCATCTCACATTGGTTTTCTT
TCTTGTATCTTTTCTGAAACTCCTTGCTGTAAGGCAGCTTTCTCAGAGTACTATATATTTTCAACAGTAAAGTAGCAGAGTTTCTCTTTG
AAACCCAAAATGTCTTCTAAAGAATCAAATTTCTATTTCTGCCTCTGACAAAAAGAACTTACTATGAAAGAAATAGTTGTTTTATCAATA
AAAGCCCCTTAATATTATGAAGAAACTTTTCATATTTTTTCTTCTTTATCCTTAATTGTGACTAAGATGGAAATCTAGAAAATATTCATG
CTTCTAAGTTTCTGCAGTGTTACTGTAAGAGAGTGTCTCGTCTACACTTCAGTTCTTCTCTCATGTGGAAAACTAAGCTTTTTATATTGA
CATTGCCATTGAATAGCTCTAGCAACTATTATTATTCCCCCAAACCCTAAAATTCTACCTATTAGGTGTCAGGTTAAAGTTCTAATTTAT
CTTTAGAAATTTATGTGAAAAATGGTTTTCCTATACTGGATAAAGCAATTCCCCTTAGGAAACATAGCCTCAGAGTATTTCATATAAATT
TTCTCTATCTAATTCAAACATATCTCCCCATGATACACCGCCAGAGTGACATTGCAGACAGTCTGTGTATGTTTAAATTTTCACTTTTTA
TGGATGAGCATAAACCTAGTCTTAGTTTAAAGGCAAACTAAAGTTGAGGGGAAATAATTAATCAATACTGATTAATTGATTTATAAGGTT
CAACACTGTCTACCCTAAATAATTTTTATATGCTCAAGGCAAAGCAGGGAATAGAGGCAATTAGCTAGATAATTCAAGCAGAAATCCATT
TTCATCGAAATTGCCTGTGTGCACATATTTTTAGATGAAAAATGAAACTACCTTACAATATTATTTTTTTAACCAATGTATTTGTTTGCA
AACATTTGCCATGTTGAAGAGTGTGTATAGGAAAGGTCTAGAAATAAATAGGCTTGTGCATACCTAGGCATTCATGCTCTTTCTTCCTCT
TCAGAGATCATCAGAAAAGAGGTGGGAATACACAAGCAGGTGCATGTAAGCCCAAAAGCTAGAAAGCCTTATATTTAACCAAAGGTTGAT
GTGTTCATTCCAGTTATTCACTTACAGATGAAACTAAAACAAATAAAGGCAAGCTATTATCAGTTTGGTAGTTCATTATTTTAGAACAAA
TTTCTAAATTAATTTATTCCCATAACCTACAATAGCACTGAGAACAGAAAACATGTTTCTTCTTCATTTTGTTTAAAGATTGCGTACCTA
GGTAAGTCACACTGTATAGATAAAAACCTTCTTCTGTATTCCTCACCTCTAAATTATATGTTATTTGCTATTTGAAAACTGTAGTTAACT
ATGGTTTTTTATTAGTCTATTAAAAGATACGTGGAGATATTAAATTATACCTAAAGCAGACGTCCAACAAATTCTGTACATGCTGCTTTA
CATCTTTGCAACAAACCTCTTAACTAGCAGCATTATTTCTATAGTGTGATTACCTGAGGGTGCCTCCAAATGTATATCATTTCACTCCCC

>12355_12355_2_CACNA2D1-NAALADL2_CACNA2D1_chr7_81964451_ENST00000356860_NAALADL2_chr3_175455094_ENST00000454872_length(amino acids)=261AA_BP=93
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLL
SNRSKALVLSGEVILQIANEPVLPFNALDIALEVQNNLKGDQPNTHQLLAMALRLRESAELFQSDEMRPANDPKERAPIRIRMLNDILQD

--------------------------------------------------------------
>12355_12355_3_CACNA2D1-NAALADL2_CACNA2D1_chr7_81964451_ENST00000423588_NAALADL2_chr3_175455094_ENST00000454872_length(transcript)=3480nt_BP=551nt
GCGGCGGAGGCAAGGCGGCCGCGGCGCGGAGCAGCCGACGCACGCTAGTGGGTCCGCCCGCCACCGCCCCTTCCTCGGCGTCCGCTCCCG
CCCTTGCCGTCCCCCGCGCGGCTCCGCGCCTCGGGCCCCGGGCGCAGCCAGCCCTCCAGACGCCCGCGGTCCCGGCGGCGTGTGCTGCTC
TTCCTCCGCCCGCGGTTTCCAGCGCCGCTCCTTCCCCCGCTTGGGCAGGGAGGGGGCATTGATCTTCGATCGCGAAGATGGCTGCTGGCT
GCCTGCTGGCCTTGACTCTGACACTTTTCCAATCTTTGCTCATCGGCCCCTCGTCGGAGGAGCCGTTCCCTTCGGCCGTCACTATCAAAT
CATGGGTGGATAAGATGCAAGAAGACCTTGTCACACTGGCAAAAACAGCAAGTGGAGTCAATCAGCTTGTTGATATTTATGAGAAATATC
AAGATTTGTATACTGTGGAACCAAATAATGCACGCCAGCTGGTAGAAATTGCAGCCAGGGATATTGAGAAACTTCTGAGCAACAGATCTA
AAGCCCTGGTGCTCTCAGGAGAAGTGATTTTGCAAATTGCCAACGAACCTGTTCTGCCCTTTAATGCACTTGATATAGCTTTAGAAGTTC
AAAACAACCTTAAAGGTGATCAACCCAACACTCATCAACTGTTAGCCATGGCGTTACGCCTGCGGGAGAGTGCTGAACTTTTTCAGTCTG
ATGAGATGCGACCTGCTAATGATCCCAAGGAGAGAGCACCCATCCGCATCCGGATGCTGAATGACATTCTCCAAGACATGGAGAAAAGCT
TTCTGGTAAAGCAGGCACCACCAGGTTTTTATAGAAACATCCTCTACCACCTTGATGAAAAGACAAGCCGGTTTTCAATACTTATAGAGG
CTTGGGAACACTGCAAACCCCTTGCATCAAATGAGACCCTTCAAGAAGCCCTGTCAGAGGTGTTGAACAGCATTAATTCAGCTCAGGTTT
ACTTCAAAGCAGGACTTGATGTGTTCAAGAGTGTCTTGGATGGGAAGAATTGAGAAAACTCTGAGCATTTTTAAAAGTTTGTTTACAATT
CCACAAGCAAAAGCTCTAATTTAACCAGATTTTCTGACATTGAAGGCTTATTTTCCCCAATGGCTTTTTGACAAGTATAAAGCTATTATT
ACATTGTATTTTTTAAATGTAAATATAGAAAGAACATTTTGCACATTTAATATTTTTCTTATATCTACATTTCTGAATATGTAAAGCAAG
TTATTGAAATAGGACTTAAGAATTACCTATTAAAAAGAAATCTGATATATAAAAATATGTACTATTTTAAGGAAAAATTTCCAAGAAGTT
CTGGACTATCTTTGTTCCTATGGGGAGGGCATATAGGAACACAGTTTATTCTCTCTGATAGAGCTATTAATGACTTAGTTTCTGTAAAAG
AAATGGAGAGTTGATATGGTTCAGATTAACTTCACTATTAAGTGTTCAATATGAAGAATTCAAGTATTCTGACTGAGTGATTGGTTGACC
TAAACCACTTTGAATGTTTCTATTTTATGAAATGAAGTTTCTCTTCTTAACACAACTAGATGTAGTAATACACTGGTTATGAAATTGTAT
TTTTTTAAGTATTAATGAAAAAAGAGCCATAAGCATTCCAGGAGAAAATCTCAAGGGAGCTACATAGAGCAATTTAAATGCAAATTTTTT
TCCTAACAACTTACAAGGTGACTAGCTTTGAAACCCCTAATTTGCCTCAGTTGATTTTCTAAGAATTTCAGGAGTGATGTATGTCTTAAG
AGGGAGAAAAAAATATTTCTTATTACTTTTTCTCTTGTTTCTGTTGGAAACACTGAAGCAGGGACTCTAAAATGAAAGCATCTCACATTG
GTTTTCTTTCTTGTATCTTTTCTGAAACTCCTTGCTGTAAGGCAGCTTTCTCAGAGTACTATATATTTTCAACAGTAAAGTAGCAGAGTT
TCTCTTTGAAACCCAAAATGTCTTCTAAAGAATCAAATTTCTATTTCTGCCTCTGACAAAAAGAACTTACTATGAAAGAAATAGTTGTTT
TATCAATAAAAGCCCCTTAATATTATGAAGAAACTTTTCATATTTTTTCTTCTTTATCCTTAATTGTGACTAAGATGGAAATCTAGAAAA
TATTCATGCTTCTAAGTTTCTGCAGTGTTACTGTAAGAGAGTGTCTCGTCTACACTTCAGTTCTTCTCTCATGTGGAAAACTAAGCTTTT
TATATTGACATTGCCATTGAATAGCTCTAGCAACTATTATTATTCCCCCAAACCCTAAAATTCTACCTATTAGGTGTCAGGTTAAAGTTC
TAATTTATCTTTAGAAATTTATGTGAAAAATGGTTTTCCTATACTGGATAAAGCAATTCCCCTTAGGAAACATAGCCTCAGAGTATTTCA
TATAAATTTTCTCTATCTAATTCAAACATATCTCCCCATGATACACCGCCAGAGTGACATTGCAGACAGTCTGTGTATGTTTAAATTTTC
ACTTTTTATGGATGAGCATAAACCTAGTCTTAGTTTAAAGGCAAACTAAAGTTGAGGGGAAATAATTAATCAATACTGATTAATTGATTT
ATAAGGTTCAACACTGTCTACCCTAAATAATTTTTATATGCTCAAGGCAAAGCAGGGAATAGAGGCAATTAGCTAGATAATTCAAGCAGA
AATCCATTTTCATCGAAATTGCCTGTGTGCACATATTTTTAGATGAAAAATGAAACTACCTTACAATATTATTTTTTTAACCAATGTATT
TGTTTGCAAACATTTGCCATGTTGAAGAGTGTGTATAGGAAAGGTCTAGAAATAAATAGGCTTGTGCATACCTAGGCATTCATGCTCTTT
CTTCCTCTTCAGAGATCATCAGAAAAGAGGTGGGAATACACAAGCAGGTGCATGTAAGCCCAAAAGCTAGAAAGCCTTATATTTAACCAA
AGGTTGATGTGTTCATTCCAGTTATTCACTTACAGATGAAACTAAAACAAATAAAGGCAAGCTATTATCAGTTTGGTAGTTCATTATTTT
AGAACAAATTTCTAAATTAATTTATTCCCATAACCTACAATAGCACTGAGAACAGAAAACATGTTTCTTCTTCATTTTGTTTAAAGATTG
CGTACCTAGGTAAGTCACACTGTATAGATAAAAACCTTCTTCTGTATTCCTCACCTCTAAATTATATGTTATTTGCTATTTGAAAACTGT
AGTTAACTATGGTTTTTTATTAGTCTATTAAAAGATACGTGGAGATATTAAATTATACCTAAAGCAGACGTCCAACAAATTCTGTACATG
CTGCTTTACATCTTTGCAACAAACCTCTTAACTAGCAGCATTATTTCTATAGTGTGATTACCTGAGGGTGCCTCCAAATGTATATCATTT

>12355_12355_3_CACNA2D1-NAALADL2_CACNA2D1_chr7_81964451_ENST00000423588_NAALADL2_chr3_175455094_ENST00000454872_length(amino acids)=261AA_BP=93
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLL
SNRSKALVLSGEVILQIANEPVLPFNALDIALEVQNNLKGDQPNTHQLLAMALRLRESAELFQSDEMRPANDPKERAPIRIRMLNDILQD

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Fusion Gene PPI Analysis for CACNA2D1-NAALADL2


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 CACNA2D1-NAALADL2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CACNA2D1-NAALADL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCACNA2D1C1142166Brugada Syndrome (disorder)6CLINGEN;GENOMICS_ENGLAND;ORPHANET
HgeneCACNA2D1C0027796Neuralgia4CTD_human
HgeneCACNA2D1C0038870Neuralgia, Supraorbital4CTD_human
HgeneCACNA2D1C0042656Neuralgia, Vidian4CTD_human
HgeneCACNA2D1C0234247Neuralgia, Atypical4CTD_human
HgeneCACNA2D1C0234249Neuralgia, Stump4CTD_human
HgeneCACNA2D1C0264893Nodal rhythm disorder4CLINGEN
HgeneCACNA2D1C0348626Other specified cardiac arrhythmias4CLINGEN
HgeneCACNA2D1C0423711Neuralgia, Perineal4CTD_human
HgeneCACNA2D1C0423712Neuralgia, Iliohypogastric Nerve4CTD_human
HgeneCACNA2D1C0428908Sinus Node Dysfunction (disorder)4CLINGEN
HgeneCACNA2D1C0751371Neuralgia, Ilioinguinal4CTD_human
HgeneCACNA2D1C0751372Nerve Pain4CTD_human
HgeneCACNA2D1C0751373Paroxysmal Nerve Pain4CTD_human
HgeneCACNA2D1C1399226Ectopic rhythm4CLINGEN
HgeneCACNA2D1C2748542CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)4CLINGEN
HgeneCACNA2D1C4551804Brugada Syndrome 14CLINGEN
HgeneCACNA2D1C0020429Hyperalgesia3CTD_human
HgeneCACNA2D1C0458247Allodynia3CTD_human
HgeneCACNA2D1C0751211Hyperalgesia, Primary3CTD_human
HgeneCACNA2D1C0751212Hyperalgesia, Secondary3CTD_human
HgeneCACNA2D1C0751213Tactile Allodynia3CTD_human
HgeneCACNA2D1C0751214Hyperalgesia, Thermal3CTD_human
HgeneCACNA2D1C2936719Mechanical Allodynia3CTD_human
HgeneCACNA2D1C0003811Cardiac Arrhythmia1GENOMICS_ENGLAND
HgeneCACNA2D1C0007102Malignant tumor of colon1CTD_human
HgeneCACNA2D1C0009375Colonic Neoplasms1CTD_human
HgeneCACNA2D1C0011071Sudden death1GENOMICS_ENGLAND
HgeneCACNA2D1C0020538Hypertensive disease1CTD_human
HgeneCACNA2D1C0030193Pain1CTD_human
HgeneCACNA2D1C0151879Shortened QT interval1GENOMICS_ENGLAND
HgeneCACNA2D1C0234230Pain, Burning1CTD_human
HgeneCACNA2D1C0234238Ache1CTD_human
HgeneCACNA2D1C0234254Radiating pain1CTD_human
HgeneCACNA2D1C0458257Pain, Splitting1CTD_human
HgeneCACNA2D1C0458259Pain, Crushing1CTD_human
HgeneCACNA2D1C0751407Pain, Migratory1CTD_human
HgeneCACNA2D1C0751408Suffering, Physical1CTD_human
HgeneCACNA2D1C1865020Short QT Syndrome 11ORPHANET