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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:CACNA2D1-PTPN12 (FusionGDB2 ID:12356)

Fusion Gene Summary for CACNA2D1-PTPN12

check button Fusion gene summary
Fusion gene informationFusion gene name: CACNA2D1-PTPN12
Fusion gene ID: 12356
HgeneTgene
Gene symbol

CACNA2D1

PTPN12

Gene ID

781

5782

Gene namecalcium voltage-gated channel auxiliary subunit alpha2delta 1protein tyrosine phosphatase non-receptor type 12
SynonymsCACNA2|CACNL2A|CCHL2A|LINC01112|lncRNA-N3PTP-PEST|PTPG1
Cytomap

7q21.11

7q11.23

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 calciutyrosine-protein phosphatase non-receptor type 12protein-tyrosine phosphatase G1
Modification date2020031320200329
UniProtAcc

P54289

.
Ensembl transtripts involved in fusion geneENST00000356253, ENST00000356860, 
ENST00000423588, ENST00000464354, 
ENST00000535308, 		ENST00000415482, 
ENST00000435495, ENST00000248594, 
Fusion gene scores* DoF score6 X 8 X 4=19214 X 11 X 7=1078
# samples 914
** MAII scorelog2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/1078*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CACNA2D1 [Title/Abstract] AND PTPN12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCACNA2D1(81964451)-PTPN12(77200395), # 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
HgeneCACNA2D1

GO:0006816

calcium ion transport

1309651|11160515

HgeneCACNA2D1

GO:0051924

regulation of calcium ion transport

1309651

TgenePTPN12

GO:0006470

protein dephosphorylation

27134172

TgenePTPN12

GO:0035335

peptidyl-tyrosine dephosphorylation

27134172


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 PTPN12 (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 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
ChimerDB4SARCTCGA-K1-A6RT-01ACACNA2D1chr7

81964451

-PTPN12chr7

77200395

+


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Fusion Gene ORF analysis for CACNA2D1-PTPN12

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-5UTRENST00000356253ENST00000415482CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
5CDS-5UTRENST00000356253ENST00000435495CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
5CDS-5UTRENST00000356860ENST00000415482CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
5CDS-5UTRENST00000356860ENST00000435495CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
5CDS-5UTRENST00000423588ENST00000415482CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
5CDS-5UTRENST00000423588ENST00000435495CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
In-frameENST00000356253ENST00000248594CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
In-frameENST00000356860ENST00000248594CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
In-frameENST00000423588ENST00000248594CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
intron-3CDSENST00000464354ENST00000248594CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
intron-3CDSENST00000535308ENST00000248594CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
intron-5UTRENST00000464354ENST00000415482CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
intron-5UTRENST00000464354ENST00000435495CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
intron-5UTRENST00000535308ENST00000415482CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+
intron-5UTRENST00000535308ENST00000435495CACNA2D1chr7

81964451

-PTPN12chr7

77200395

+

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-ENST00000248594PTPN12chr777200395+36686333392876845
ENST00000356253CACNA2D1chr781964451-ENST00000248594PTPN12chr777200395+35855502562793845
ENST00000423588CACNA2D1chr781964451-ENST00000248594PTPN12chr777200395+35865512572794845

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
ENST00000356860ENST00000248594CACNA2D1chr781964451-PTPN12chr777200395+0.0002480060.999752
ENST00000356253ENST00000248594CACNA2D1chr781964451-PTPN12chr777200395+0.0002670080.99973303
ENST00000423588ENST00000248594CACNA2D1chr781964451-PTPN12chr777200395+0.0002670370.9997329

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Fusion Genomic Features for CACNA2D1-PTPN12


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-PTPN12chr777200394+3.59E-060.9999964
CACNA2D1chr781964450-PTPN12chr777200394+3.59E-060.9999964

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-PTPN12


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/chr7:77200395)
- 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
CACNA2D1

P54289

.
FUNCTION: The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Plays an important role in excitation-contraction coupling (By similarity). {ECO:0000250}.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}.

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
TgenePTPN12chr7:81964451chr7:77200395ENST0000043549501728_2930651.0DomainTyrosine-protein phosphatase
TgenePTPN12chr7:81964451chr7:77200395ENST00000248594018231_23733781.0RegionSubstrate binding
TgenePTPN12chr7:81964451chr7:77200395ENST0000024859401863_6733781.0RegionSubstrate binding
TgenePTPN12chr7:81964451chr7:77200395ENST00000435495017231_2370651.0RegionSubstrate binding
TgenePTPN12chr7:81964451chr7:77200395ENST0000043549501763_670651.0RegionSubstrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356253-339253_430981104.0DomainVWFA
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356253-339446_556981104.0DomainNote=Cache
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356860-339253_430981092.0DomainVWFA
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356860-339446_556981092.0DomainNote=Cache
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356253-339259_263981104.0MotifNote=MIDAS-like motif
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356860-339259_263981092.0MotifNote=MIDAS-like motif
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356253-3391095_1103981104.0Topological domainCytoplasmic
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356253-33925_1073981104.0Topological domainExtracellular
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356860-3391095_1103981092.0Topological domainCytoplasmic
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356860-33925_1073981092.0Topological domainExtracellular
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356253-3391074_1094981104.0TransmembraneHelical
HgeneCACNA2D1chr7:81964451chr7:77200395ENST00000356860-3391074_1094981092.0TransmembraneHelical
TgenePTPN12chr7:81964451chr7:77200395ENST0000024859401828_29333781.0DomainTyrosine-protein phosphatase


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Fusion Gene Sequence for CACNA2D1-PTPN12


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.
>12356_12356_1_CACNA2D1-PTPN12_CACNA2D1_chr7_81964451_ENST00000356253_PTPN12_chr7_77200395_ENST00000248594_length(transcript)=3585nt_BP=550nt
CGGCGGAGGCAAGGCGGCCGCGGCGCGGAGCAGCCGACGCACGCTAGTGGGTCCGCCCGCCACCGCCCCTTCCTCGGCGTCCGCTCCCGC
CCTTGCCGTCCCCCGCGCGGCTCCGCGCCTCGGGCCCCGGGCGCAGCCAGCCCTCCAGACGCCCGCGGTCCCGGCGGCGTGTGCTGCTCT
TCCTCCGCCCGCGGTTTCCAGCGCCGCTCCTTCCCCCGCTTGGGCAGGGAGGGGGCATTGATCTTCGATCGCGAAGATGGCTGCTGGCTG
CCTGCTGGCCTTGACTCTGACACTTTTCCAATCTTTGCTCATCGGCCCCTCGTCGGAGGAGCCGTTCCCTTCGGCCGTCACTATCAAATC
ATGGGTGGATAAGATGCAAGAAGACCTTGTCACACTGGCAAAAACAGCAAGTGGAGTCAATCAGCTTGTTGATATTTATGAGAAATATCA
AGATTTGTATACTGTGGAACCAAATAATGCACGCCAGCTGGTAGAAATTGCAGCCAGGGATATTGAGAAACTTCTGAGCAACAGATCTAA
AGCCCTGGTGCGGTTAAGAAGATTGTCTACCAAATATAGAACAGAAAAGATATATCCCACAGCCACTGGAGAAAAAGAAGAAAATGTTAA
AAAGAACAGATACAAGGACATACTGCCATTTGATCACAGCCGAGTTAAATTGACATTAAAGACTCCTTCACAAGATTCAGACTATATCAA
TGCAAATTTTATAAAGGGCGTCTATGGGCCAAAAGCATATGTAGCAACTCAAGGACCTTTAGCAAATACAGTAATAGATTTTTGGAGGAT
GATATGGGAGTATAATGTTGTGATCATTGTAATGGCCTGCCGAGAATTTGAGATGGGAAGGAAAAAATGTGAGCGCTATTGGCCTTTGTA
TGGAGAAGACCCCATAACGTTTGCACCATTTAAAATTTCTTGTGAGGATGAACAAGCAAGAACAGACTACTTCATCAGGACACTCTTACT
TGAATTTCAAAATGAATCTCGTAGGCTGTATCAGTTTCATTATGTGAACTGGCCAGACCATGATGTTCCTTCATCATTTGATTCTATTCT
GGACATGATAAGCTTAATGAGGAAATATCAAGAACATGAAGATGTTCCTATTTGTATTCATTGCAGTGCAGGCTGTGGAAGAACAGGTGC
CATTTGTGCCATAGATTATACGTGGAATTTACTAAAAGCTGGGAAAATACCAGAGGAATTTAATGTATTTAATTTAATACAAGAAATGAG
AACACAAAGGCATTCTGCAGTACAAACAAAGGAGCAATATGAACTTGTTCATAGAGCTATTGCCCAACTGTTTGAAAAACAGCTACAACT
ATATGAAATTCATGGAGCTCAGAAAATTGCTGATGGAGTGAATGAAATTAACACTGAAAACATGGTCAGCTCCATAGAGCCTGAAAAACA
AGATTCTCCTCCTCCAAAACCACCAAGGACCCGCAGTTGCCTTGTTGAAGGGGATGCTAAAGAAGAAATACTGCAGCCACCGGAACCTCA
TCCAGTGCCACCCATCTTGACACCTTCTCCCCCTTCAGCTTTTCCAACAGTCACTACTGTGTGGCAGGACAATGATAGATACCATCCAAA
GCCAGTGTTGCATATGGTTTCATCAGAACAACATTCAGCAGACCTCAACAGAAACTATAGTAAATCAACAGAACTTCCAGGGAAAAATGA
ATCAACAATTGAACAGATAGATAAAAAATTGGAACGAAATTTAAGTTTTGAGATTAAGAAGGTCCCTCTCCAAGAGGGACCAAAAAGTTT
TGATGGGAACACACTTTTGAATAGGGGACATGCAATTAAAATTAAATCTGCTTCACCTTGTATAGCTGATAAAATCTCTAAGCCACAGGA
ATTAAGTTCAGATCTAAATGTCGGTGATACTTCCCAGAATTCTTGTGTGGACTGCAGTGTAACACAATCAAACAAAGTTTCAGTTACTCC
ACCAGAAGAATCCCAGAATTCAGACACACCTCCAAGGCCAGACCGCTTGCCTCTTGATGAGAAAGGACATGTAACGTGGTCATTTCATGG
ACCTGAAAATGCCATACCCATACCTGATTTATCTGAAGGCAATTCCTCAGATATCAACTATCAAACTAGGAAAACTGTGAGTTTAACACC
AAGTCCTACAACACAAGTTGAAACACCTGATCTTGTGGATCATGATAACACTTCACCACTCTTCAGAACACCCCTCAGTTTTACTAATCC
ACTTCACTCTGATGACTCAGACTCAGATGAAAGAAACTCTGATGGTGCTGTGACCCAGAATAAAACTAATATTTCAACAGCAAGTGCCAC
AGTTTCTGCTGCCACTAGTACTGAAAGCATTTCTACTAGGAAAGTATTGCCAATGTCCATTGCTAGACATAATATAGCAGGAACAACACA
TTCAGGTGCTGAAAAAGATGTTGATGTTAGTGAAGATTCACCTCCTCCCCTACCTGAAAGAACTCCTGAATCGTTTGTGTTAGCAAGTGA
ACATAATACACCTGTAAGATCGGAATGGAGTGAACTTCAAAGTCAGGAACGATCTGAACAAAAAAAGTCTGAAGGCTTGATAACCTCTGA
AAATGAGAAATGTGATCATCCAGCGGGAGGTATTCACTATGAAATGTGCATAGAATGTCCACCTACTTTCAGTGACAAGAGAGAACAAAT
ATCAGAAAATCCAACAGAAGCCACAGATATTGGTTTTGGTAATCGATGTGGAAAACCCAAAGGACCAAGAGATCCACCTTCAGAATGGAC
ATGATTCAGGGAGCTAGAAGACACTTTAAGTTATACTGGAAAATTCAGGTGCCACTGAAAGCCAGATTTATAGTATTCCATCTTTAATAT
GTGGGACTAACAGCAGTGTAGATTGTTACCTTAATATTTTTTGCTGGGACCATCTACCTGCCTTATACTACACTTAGGAAAAAGTATTAC
ATATGGTTTATTTTGAAACTTCAAGTATTATTGCCTTAATGTCTCTTAACCCTGTTACACGCTGCTTGTAGACATGTTAATATAGTAATA
CCTTTATGATATATTGAGTTTAAGGACTACTCTTTTTCTGTTTTATCATGTATGCATTATTTTGTATATGTACAGGGCAAGTAGGTATAT
AATTTGATAAAGTTGCAATTGAAATATTATTAACAGAAGATGTAAGAAATTTCTGCATGGTCTAAATCTTTGTGTACTTTATTTGTAAAT
TATTTGCCCTGGAGTTTTAGAAAATAGTTTCTGAATTTTAAACTTGCTGGATTCATGCAGCCAGCTTTGCAGGTTATCAGAGATCAAAGA
TTGTAATAATAATTTTGTAAATTGTAAGCAAAAAGTTATTTTTATATTATATACAGTCTAATTGTTCATCCTAATTGTTCCTGTTTTCAT
CTAGTCAGAGATTCAGTAAGTGCCTTGGAACAATATTGAATTCTCTTAGCTTGTGTGTGTTTCTTTAATATTTGAACTCAAGTGGGATTA

>12356_12356_1_CACNA2D1-PTPN12_CACNA2D1_chr7_81964451_ENST00000356253_PTPN12_chr7_77200395_ENST00000248594_length(amino acids)=845AA_BP=98
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLL
SNRSKALVRLRRLSTKYRTEKIYPTATGEKEENVKKNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVI
DFWRMIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSS
FDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFE
KQLQLYEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDND
RYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKI
SKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHGPENAIPIPDLSEGNSSDINYQTRKT
VSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNI
AGTTHSGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSENEKCDHPAGGIHYEMCIECPPTFSD

--------------------------------------------------------------
>12356_12356_2_CACNA2D1-PTPN12_CACNA2D1_chr7_81964451_ENST00000356860_PTPN12_chr7_77200395_ENST00000248594_length(transcript)=3668nt_BP=633nt
AGGGAGGAAACCGAGAGGGAGAGCGAGAGCGCGCGAGCGCCGGCGGGCTCGCCGAGGTCTGTTTCCAAAGTCGCCCTTGATGGCGGCGGA
GGCAAGGCGGCCGCGGCGCGGAGCAGCCGACGCACGCTAGTGGGTCCGCCCGCCACCGCCCCTTCCTCGGCGTCCGCTCCCGCCCTTGCC
GTCCCCCGCGCGGCTCCGCGCCTCGGGCCCCGGGCGCAGCCAGCCCTCCAGACGCCCGCGGTCCCGGCGGCGTGTGCTGCTCTTCCTCCG
CCCGCGGTTTCCAGCGCCGCTCCTTCCCCCGCTTGGGCAGGGAGGGGGCATTGATCTTCGATCGCGAAGATGGCTGCTGGCTGCCTGCTG
GCCTTGACTCTGACACTTTTCCAATCTTTGCTCATCGGCCCCTCGTCGGAGGAGCCGTTCCCTTCGGCCGTCACTATCAAATCATGGGTG
GATAAGATGCAAGAAGACCTTGTCACACTGGCAAAAACAGCAAGTGGAGTCAATCAGCTTGTTGATATTTATGAGAAATATCAAGATTTG
TATACTGTGGAACCAAATAATGCACGCCAGCTGGTAGAAATTGCAGCCAGGGATATTGAGAAACTTCTGAGCAACAGATCTAAAGCCCTG
GTGCGGTTAAGAAGATTGTCTACCAAATATAGAACAGAAAAGATATATCCCACAGCCACTGGAGAAAAAGAAGAAAATGTTAAAAAGAAC
AGATACAAGGACATACTGCCATTTGATCACAGCCGAGTTAAATTGACATTAAAGACTCCTTCACAAGATTCAGACTATATCAATGCAAAT
TTTATAAAGGGCGTCTATGGGCCAAAAGCATATGTAGCAACTCAAGGACCTTTAGCAAATACAGTAATAGATTTTTGGAGGATGATATGG
GAGTATAATGTTGTGATCATTGTAATGGCCTGCCGAGAATTTGAGATGGGAAGGAAAAAATGTGAGCGCTATTGGCCTTTGTATGGAGAA
GACCCCATAACGTTTGCACCATTTAAAATTTCTTGTGAGGATGAACAAGCAAGAACAGACTACTTCATCAGGACACTCTTACTTGAATTT
CAAAATGAATCTCGTAGGCTGTATCAGTTTCATTATGTGAACTGGCCAGACCATGATGTTCCTTCATCATTTGATTCTATTCTGGACATG
ATAAGCTTAATGAGGAAATATCAAGAACATGAAGATGTTCCTATTTGTATTCATTGCAGTGCAGGCTGTGGAAGAACAGGTGCCATTTGT
GCCATAGATTATACGTGGAATTTACTAAAAGCTGGGAAAATACCAGAGGAATTTAATGTATTTAATTTAATACAAGAAATGAGAACACAA
AGGCATTCTGCAGTACAAACAAAGGAGCAATATGAACTTGTTCATAGAGCTATTGCCCAACTGTTTGAAAAACAGCTACAACTATATGAA
ATTCATGGAGCTCAGAAAATTGCTGATGGAGTGAATGAAATTAACACTGAAAACATGGTCAGCTCCATAGAGCCTGAAAAACAAGATTCT
CCTCCTCCAAAACCACCAAGGACCCGCAGTTGCCTTGTTGAAGGGGATGCTAAAGAAGAAATACTGCAGCCACCGGAACCTCATCCAGTG
CCACCCATCTTGACACCTTCTCCCCCTTCAGCTTTTCCAACAGTCACTACTGTGTGGCAGGACAATGATAGATACCATCCAAAGCCAGTG
TTGCATATGGTTTCATCAGAACAACATTCAGCAGACCTCAACAGAAACTATAGTAAATCAACAGAACTTCCAGGGAAAAATGAATCAACA
ATTGAACAGATAGATAAAAAATTGGAACGAAATTTAAGTTTTGAGATTAAGAAGGTCCCTCTCCAAGAGGGACCAAAAAGTTTTGATGGG
AACACACTTTTGAATAGGGGACATGCAATTAAAATTAAATCTGCTTCACCTTGTATAGCTGATAAAATCTCTAAGCCACAGGAATTAAGT
TCAGATCTAAATGTCGGTGATACTTCCCAGAATTCTTGTGTGGACTGCAGTGTAACACAATCAAACAAAGTTTCAGTTACTCCACCAGAA
GAATCCCAGAATTCAGACACACCTCCAAGGCCAGACCGCTTGCCTCTTGATGAGAAAGGACATGTAACGTGGTCATTTCATGGACCTGAA
AATGCCATACCCATACCTGATTTATCTGAAGGCAATTCCTCAGATATCAACTATCAAACTAGGAAAACTGTGAGTTTAACACCAAGTCCT
ACAACACAAGTTGAAACACCTGATCTTGTGGATCATGATAACACTTCACCACTCTTCAGAACACCCCTCAGTTTTACTAATCCACTTCAC
TCTGATGACTCAGACTCAGATGAAAGAAACTCTGATGGTGCTGTGACCCAGAATAAAACTAATATTTCAACAGCAAGTGCCACAGTTTCT
GCTGCCACTAGTACTGAAAGCATTTCTACTAGGAAAGTATTGCCAATGTCCATTGCTAGACATAATATAGCAGGAACAACACATTCAGGT
GCTGAAAAAGATGTTGATGTTAGTGAAGATTCACCTCCTCCCCTACCTGAAAGAACTCCTGAATCGTTTGTGTTAGCAAGTGAACATAAT
ACACCTGTAAGATCGGAATGGAGTGAACTTCAAAGTCAGGAACGATCTGAACAAAAAAAGTCTGAAGGCTTGATAACCTCTGAAAATGAG
AAATGTGATCATCCAGCGGGAGGTATTCACTATGAAATGTGCATAGAATGTCCACCTACTTTCAGTGACAAGAGAGAACAAATATCAGAA
AATCCAACAGAAGCCACAGATATTGGTTTTGGTAATCGATGTGGAAAACCCAAAGGACCAAGAGATCCACCTTCAGAATGGACATGATTC
AGGGAGCTAGAAGACACTTTAAGTTATACTGGAAAATTCAGGTGCCACTGAAAGCCAGATTTATAGTATTCCATCTTTAATATGTGGGAC
TAACAGCAGTGTAGATTGTTACCTTAATATTTTTTGCTGGGACCATCTACCTGCCTTATACTACACTTAGGAAAAAGTATTACATATGGT
TTATTTTGAAACTTCAAGTATTATTGCCTTAATGTCTCTTAACCCTGTTACACGCTGCTTGTAGACATGTTAATATAGTAATACCTTTAT
GATATATTGAGTTTAAGGACTACTCTTTTTCTGTTTTATCATGTATGCATTATTTTGTATATGTACAGGGCAAGTAGGTATATAATTTGA
TAAAGTTGCAATTGAAATATTATTAACAGAAGATGTAAGAAATTTCTGCATGGTCTAAATCTTTGTGTACTTTATTTGTAAATTATTTGC
CCTGGAGTTTTAGAAAATAGTTTCTGAATTTTAAACTTGCTGGATTCATGCAGCCAGCTTTGCAGGTTATCAGAGATCAAAGATTGTAAT
AATAATTTTGTAAATTGTAAGCAAAAAGTTATTTTTATATTATATACAGTCTAATTGTTCATCCTAATTGTTCCTGTTTTCATCTAGTCA
GAGATTCAGTAAGTGCCTTGGAACAATATTGAATTCTCTTAGCTTGTGTGTGTTTCTTTAATATTTGAACTCAAGTGGGATTAGAAGACT

>12356_12356_2_CACNA2D1-PTPN12_CACNA2D1_chr7_81964451_ENST00000356860_PTPN12_chr7_77200395_ENST00000248594_length(amino acids)=845AA_BP=98
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLL
SNRSKALVRLRRLSTKYRTEKIYPTATGEKEENVKKNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVI
DFWRMIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSS
FDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFE
KQLQLYEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDND
RYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKI
SKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHGPENAIPIPDLSEGNSSDINYQTRKT
VSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNI
AGTTHSGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSENEKCDHPAGGIHYEMCIECPPTFSD

--------------------------------------------------------------
>12356_12356_3_CACNA2D1-PTPN12_CACNA2D1_chr7_81964451_ENST00000423588_PTPN12_chr7_77200395_ENST00000248594_length(transcript)=3586nt_BP=551nt
GCGGCGGAGGCAAGGCGGCCGCGGCGCGGAGCAGCCGACGCACGCTAGTGGGTCCGCCCGCCACCGCCCCTTCCTCGGCGTCCGCTCCCG
CCCTTGCCGTCCCCCGCGCGGCTCCGCGCCTCGGGCCCCGGGCGCAGCCAGCCCTCCAGACGCCCGCGGTCCCGGCGGCGTGTGCTGCTC
TTCCTCCGCCCGCGGTTTCCAGCGCCGCTCCTTCCCCCGCTTGGGCAGGGAGGGGGCATTGATCTTCGATCGCGAAGATGGCTGCTGGCT
GCCTGCTGGCCTTGACTCTGACACTTTTCCAATCTTTGCTCATCGGCCCCTCGTCGGAGGAGCCGTTCCCTTCGGCCGTCACTATCAAAT
CATGGGTGGATAAGATGCAAGAAGACCTTGTCACACTGGCAAAAACAGCAAGTGGAGTCAATCAGCTTGTTGATATTTATGAGAAATATC
AAGATTTGTATACTGTGGAACCAAATAATGCACGCCAGCTGGTAGAAATTGCAGCCAGGGATATTGAGAAACTTCTGAGCAACAGATCTA
AAGCCCTGGTGCGGTTAAGAAGATTGTCTACCAAATATAGAACAGAAAAGATATATCCCACAGCCACTGGAGAAAAAGAAGAAAATGTTA
AAAAGAACAGATACAAGGACATACTGCCATTTGATCACAGCCGAGTTAAATTGACATTAAAGACTCCTTCACAAGATTCAGACTATATCA
ATGCAAATTTTATAAAGGGCGTCTATGGGCCAAAAGCATATGTAGCAACTCAAGGACCTTTAGCAAATACAGTAATAGATTTTTGGAGGA
TGATATGGGAGTATAATGTTGTGATCATTGTAATGGCCTGCCGAGAATTTGAGATGGGAAGGAAAAAATGTGAGCGCTATTGGCCTTTGT
ATGGAGAAGACCCCATAACGTTTGCACCATTTAAAATTTCTTGTGAGGATGAACAAGCAAGAACAGACTACTTCATCAGGACACTCTTAC
TTGAATTTCAAAATGAATCTCGTAGGCTGTATCAGTTTCATTATGTGAACTGGCCAGACCATGATGTTCCTTCATCATTTGATTCTATTC
TGGACATGATAAGCTTAATGAGGAAATATCAAGAACATGAAGATGTTCCTATTTGTATTCATTGCAGTGCAGGCTGTGGAAGAACAGGTG
CCATTTGTGCCATAGATTATACGTGGAATTTACTAAAAGCTGGGAAAATACCAGAGGAATTTAATGTATTTAATTTAATACAAGAAATGA
GAACACAAAGGCATTCTGCAGTACAAACAAAGGAGCAATATGAACTTGTTCATAGAGCTATTGCCCAACTGTTTGAAAAACAGCTACAAC
TATATGAAATTCATGGAGCTCAGAAAATTGCTGATGGAGTGAATGAAATTAACACTGAAAACATGGTCAGCTCCATAGAGCCTGAAAAAC
AAGATTCTCCTCCTCCAAAACCACCAAGGACCCGCAGTTGCCTTGTTGAAGGGGATGCTAAAGAAGAAATACTGCAGCCACCGGAACCTC
ATCCAGTGCCACCCATCTTGACACCTTCTCCCCCTTCAGCTTTTCCAACAGTCACTACTGTGTGGCAGGACAATGATAGATACCATCCAA
AGCCAGTGTTGCATATGGTTTCATCAGAACAACATTCAGCAGACCTCAACAGAAACTATAGTAAATCAACAGAACTTCCAGGGAAAAATG
AATCAACAATTGAACAGATAGATAAAAAATTGGAACGAAATTTAAGTTTTGAGATTAAGAAGGTCCCTCTCCAAGAGGGACCAAAAAGTT
TTGATGGGAACACACTTTTGAATAGGGGACATGCAATTAAAATTAAATCTGCTTCACCTTGTATAGCTGATAAAATCTCTAAGCCACAGG
AATTAAGTTCAGATCTAAATGTCGGTGATACTTCCCAGAATTCTTGTGTGGACTGCAGTGTAACACAATCAAACAAAGTTTCAGTTACTC
CACCAGAAGAATCCCAGAATTCAGACACACCTCCAAGGCCAGACCGCTTGCCTCTTGATGAGAAAGGACATGTAACGTGGTCATTTCATG
GACCTGAAAATGCCATACCCATACCTGATTTATCTGAAGGCAATTCCTCAGATATCAACTATCAAACTAGGAAAACTGTGAGTTTAACAC
CAAGTCCTACAACACAAGTTGAAACACCTGATCTTGTGGATCATGATAACACTTCACCACTCTTCAGAACACCCCTCAGTTTTACTAATC
CACTTCACTCTGATGACTCAGACTCAGATGAAAGAAACTCTGATGGTGCTGTGACCCAGAATAAAACTAATATTTCAACAGCAAGTGCCA
CAGTTTCTGCTGCCACTAGTACTGAAAGCATTTCTACTAGGAAAGTATTGCCAATGTCCATTGCTAGACATAATATAGCAGGAACAACAC
ATTCAGGTGCTGAAAAAGATGTTGATGTTAGTGAAGATTCACCTCCTCCCCTACCTGAAAGAACTCCTGAATCGTTTGTGTTAGCAAGTG
AACATAATACACCTGTAAGATCGGAATGGAGTGAACTTCAAAGTCAGGAACGATCTGAACAAAAAAAGTCTGAAGGCTTGATAACCTCTG
AAAATGAGAAATGTGATCATCCAGCGGGAGGTATTCACTATGAAATGTGCATAGAATGTCCACCTACTTTCAGTGACAAGAGAGAACAAA
TATCAGAAAATCCAACAGAAGCCACAGATATTGGTTTTGGTAATCGATGTGGAAAACCCAAAGGACCAAGAGATCCACCTTCAGAATGGA
CATGATTCAGGGAGCTAGAAGACACTTTAAGTTATACTGGAAAATTCAGGTGCCACTGAAAGCCAGATTTATAGTATTCCATCTTTAATA
TGTGGGACTAACAGCAGTGTAGATTGTTACCTTAATATTTTTTGCTGGGACCATCTACCTGCCTTATACTACACTTAGGAAAAAGTATTA
CATATGGTTTATTTTGAAACTTCAAGTATTATTGCCTTAATGTCTCTTAACCCTGTTACACGCTGCTTGTAGACATGTTAATATAGTAAT
ACCTTTATGATATATTGAGTTTAAGGACTACTCTTTTTCTGTTTTATCATGTATGCATTATTTTGTATATGTACAGGGCAAGTAGGTATA
TAATTTGATAAAGTTGCAATTGAAATATTATTAACAGAAGATGTAAGAAATTTCTGCATGGTCTAAATCTTTGTGTACTTTATTTGTAAA
TTATTTGCCCTGGAGTTTTAGAAAATAGTTTCTGAATTTTAAACTTGCTGGATTCATGCAGCCAGCTTTGCAGGTTATCAGAGATCAAAG
ATTGTAATAATAATTTTGTAAATTGTAAGCAAAAAGTTATTTTTATATTATATACAGTCTAATTGTTCATCCTAATTGTTCCTGTTTTCA
TCTAGTCAGAGATTCAGTAAGTGCCTTGGAACAATATTGAATTCTCTTAGCTTGTGTGTGTTTCTTTAATATTTGAACTCAAGTGGGATT

>12356_12356_3_CACNA2D1-PTPN12_CACNA2D1_chr7_81964451_ENST00000423588_PTPN12_chr7_77200395_ENST00000248594_length(amino acids)=845AA_BP=98
MAAGCLLALTLTLFQSLLIGPSSEEPFPSAVTIKSWVDKMQEDLVTLAKTASGVNQLVDIYEKYQDLYTVEPNNARQLVEIAARDIEKLL
SNRSKALVRLRRLSTKYRTEKIYPTATGEKEENVKKNRYKDILPFDHSRVKLTLKTPSQDSDYINANFIKGVYGPKAYVATQGPLANTVI
DFWRMIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSS
FDSILDMISLMRKYQEHEDVPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFE
KQLQLYEIHGAQKIADGVNEINTENMVSSIEPEKQDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDND
RYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNLSFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKI
SKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFHGPENAIPIPDLSEGNSSDINYQTRKT
VSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRKVLPMSIARHNI
AGTTHSGAEKDVDVSEDSPPPLPERTPESFVLASEHNTPVRSEWSELQSQERSEQKKSEGLITSENEKCDHPAGGIHYEMCIECPPTFSD

--------------------------------------------------------------

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Fusion Gene PPI Analysis for CACNA2D1-PTPN12


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
TgenePTPN12chr7:81964451chr7:77200395ENST00000248594018345_43833.0781.0TGFB1I1
TgenePTPN12chr7:81964451chr7:77200395ENST00000435495017345_4380651.0TGFB1I1


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-PTPN12


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-PTPN12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource