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Fusion gene ID: 5470 |
FusionGeneSummary for CAPN6_DCX |
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Fusion gene information | Fusion gene name: CAPN6_DCX | Fusion gene ID: 5470 | Hgene | Tgene | Gene symbol | CAPN6 | DCX | Gene ID | 827 | 1641 |
Gene name | calpain 6 | doublecortin | |
Synonyms | CANPX|CAPNX|CalpM|DJ914P14.1 | DBCN|DC|LISX|SCLH|XLIS | |
Cytomap | Xq23 | Xq23 | |
Type of gene | protein-coding | protein-coding | |
Description | calpain-6calpain-like protease X-linkedcalpamodulin | neuronal migration protein doublecortindoublecortexdoublinlis-Xlissencephalin-X | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9Y6Q1 | O43602 | |
Ensembl transtripts involved in fusion gene | ENST00000324068, ENST00000541758, | ENST00000371993, ENST00000356915, ENST00000338081, ENST00000356220, ENST00000488120, ENST00000496551, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
# samples | 2 | 2 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | DCX | GO:0001764 | neuron migration | 14741102 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BRCA | TCGA-E2-A14N-01A | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000324068 | ENST00000371993 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
In-frame | ENST00000324068 | ENST00000356915 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
In-frame | ENST00000324068 | ENST00000338081 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
In-frame | ENST00000324068 | ENST00000356220 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
Frame-shift | ENST00000324068 | ENST00000488120 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
5CDS-intron | ENST00000324068 | ENST00000496551 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
Frame-shift | ENST00000541758 | ENST00000371993 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
Frame-shift | ENST00000541758 | ENST00000356915 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
Frame-shift | ENST00000541758 | ENST00000338081 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
Frame-shift | ENST00000541758 | ENST00000356220 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
Frame-shift | ENST00000541758 | ENST00000488120 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
5CDS-intron | ENST00000541758 | ENST00000496551 | CAPN6 | chrX | 110490596 | - | DCX | chrX | 110544971 | - |
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FusionProtFeatures for CAPN6_DCX |
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Hgene | Tgene |
CAPN6 | DCX |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CAPN6_DCX |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CAPN6 | SYNE2, BAZ1A, CEP162, SUN1, LRFN4, UBA6, CHRAC1, FLNA, HECTD1, BICD2, FAM101B, GLDC | DCX | PAFAH1B1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CAPN6_DCX |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CAPN6_DCX |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DCX | C1848199 | X-Linked Lissencephaly | 11 | ORPHANET;UNIPROT |