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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 5470

FusionGeneSummary for CAPN6_DCX

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPN6_DCX
Fusion gene ID: 5470
HgeneTgene
Gene symbol

CAPN6

DCX

Gene ID

827

1641

Gene namecalpain 6doublecortin
SynonymsCANPX|CAPNX|CalpM|DJ914P14.1DBCN|DC|LISX|SCLH|XLIS
Cytomap

Xq23

Xq23

Type of geneprotein-codingprotein-coding
Descriptioncalpain-6calpain-like protease X-linkedcalpamodulinneuronal migration protein doublecortindoublecortexdoublinlis-Xlissencephalin-X
Modification date2018052320180523
UniProtAcc

Q9Y6Q1

O43602

Ensembl transtripts involved in fusion geneENST00000324068, ENST00000541758, 
ENST00000371993, ENST00000356915, 
ENST00000338081, ENST00000356220, 
ENST00000488120, ENST00000496551, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: CAPN6 [Title/Abstract] AND DCX [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneDCX

GO:0001764

neuron migration

14741102


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-E2-A14N-01ACAPN6chrX

110490596

-DCXchrX

110544971

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000324068ENST00000371993CAPN6chrX

110490596

-DCXchrX

110544971

-
In-frameENST00000324068ENST00000356915CAPN6chrX

110490596

-DCXchrX

110544971

-
In-frameENST00000324068ENST00000338081CAPN6chrX

110490596

-DCXchrX

110544971

-
In-frameENST00000324068ENST00000356220CAPN6chrX

110490596

-DCXchrX

110544971

-
Frame-shiftENST00000324068ENST00000488120CAPN6chrX

110490596

-DCXchrX

110544971

-
5CDS-intronENST00000324068ENST00000496551CAPN6chrX

110490596

-DCXchrX

110544971

-
Frame-shiftENST00000541758ENST00000371993CAPN6chrX

110490596

-DCXchrX

110544971

-
Frame-shiftENST00000541758ENST00000356915CAPN6chrX

110490596

-DCXchrX

110544971

-
Frame-shiftENST00000541758ENST00000338081CAPN6chrX

110490596

-DCXchrX

110544971

-
Frame-shiftENST00000541758ENST00000356220CAPN6chrX

110490596

-DCXchrX

110544971

-
Frame-shiftENST00000541758ENST00000488120CAPN6chrX

110490596

-DCXchrX

110544971

-
5CDS-intronENST00000541758ENST00000496551CAPN6chrX

110490596

-DCXchrX

110544971

-

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FusionProtFeatures for CAPN6_DCX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAPN6

Q9Y6Q1

DCX

O43602

Microtubule-stabilizing protein that may be involved inthe regulation of microtubule dynamics and cytoskeletalorganization. May act as a regulator of RAC1 activity throughinteraction with ARHGEF2 to control lamellipodial formation andcell mobility. Does not seem to have protease activity as it haslost the active site residues (By similarity). {ECO:0000250,ECO:0000269|PubMed:17210638}. Microtubule-associated protein required for initialsteps of neuronal dispersion and cortex lamination during cerebralcortex development. May act by competing with the putativeneuronal protein kinase DCLK1 in binding to a target protein. Mayin that way participate in a signaling pathway that is crucial forneuronal interaction before and during migration, possibly as partof a calcium ion-dependent signal transduction pathway. May bepart with PAFAH1B1/LIS-1 of overlapping, but distinct, signalingpathways that promote neuronal migration.{ECO:0000269|PubMed:22359282}.

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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FusionGeneSequence for CAPN6_DCX


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CAPN6_DCX


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
CAPN6SYNE2, BAZ1A, CEP162, SUN1, LRFN4, UBA6, CHRAC1, FLNA, HECTD1, BICD2, FAM101B, GLDCDCXPAFAH1B1, DCX, USP9X, SPP1, TERF1, TINF2, ACD, POT1, PPP1CA, PPP1R9B, APP, FBXO25, TRIM23, GOLGA2, KIFC3, MEOX1, TRIM27, ZBTB5, CALCOCO2, IKZF1, SPAG5, MID2, RINT1, KRT40, KRTAP10-8, HAX1, NUFIP1, DCLK1, NMNAT3, DIS3, CUL1, NTRK1, DGUOK, NDUFA10, LGALS9C, RGL4, DPF3, AGTR1, DNAAF2, RNF13, MTERF2


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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RelatedDrugs for CAPN6_DCX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CAPN6_DCX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDCXC1848199X-Linked Lissencephaly11ORPHANET;UNIPROT