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Fusion gene ID: 5794 |
FusionGeneSummary for CCDC138_GFRAL |
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Fusion gene information | Fusion gene name: CCDC138_GFRAL | Fusion gene ID: 5794 | Hgene | Tgene | Gene symbol | CCDC138 | GFRAL | Gene ID | 165055 | 389400 |
Gene name | coiled-coil domain containing 138 | GDNF family receptor alpha like | |
Synonyms | - | C6orf144|GRAL|UNQ9356|bA360D14.1 | |
Cytomap | 2q13 | 6p12.1 | |
Type of gene | protein-coding | protein-coding | |
Description | coiled-coil domain-containing protein 138 | GDNF family receptor alpha-likeIVFI9356 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q96M89 | Q6UXV0 | |
Ensembl transtripts involved in fusion gene | ENST00000412964, ENST00000295124, ENST00000470608, | ENST00000340465, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 1 X 1 X 1=1 |
# samples | 1 | 1 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: CCDC138 [Title/Abstract] AND GFRAL [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 | GFRAL | GO:0000187 | activation of MAPK activity | 28953886 |
Tgene | GFRAL | GO:0035860 | glial cell-derived neurotrophic factor receptor signaling pathway | 28953886 |
Tgene | GFRAL | GO:0043410 | positive regulation of MAPK cascade | 28846099 |
Tgene | GFRAL | GO:0051897 | positive regulation of protein kinase B signaling | 28846097 |
![]() (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-C8-A12U-01A | CCDC138 | chr2 | 109432561 | + | GFRAL | chr6 | 55263978 | + |
* 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 | ENST00000412964 | ENST00000340465 | CCDC138 | chr2 | 109432561 | + | GFRAL | chr6 | 55263978 | + |
Frame-shift | ENST00000295124 | ENST00000340465 | CCDC138 | chr2 | 109432561 | + | GFRAL | chr6 | 55263978 | + |
intron-3CDS | ENST00000470608 | ENST00000340465 | CCDC138 | chr2 | 109432561 | + | GFRAL | chr6 | 55263978 | + |
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FusionProtFeatures for CCDC138_GFRAL |
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Hgene | Tgene |
CCDC138 | GFRAL |
Brainstem-restricted receptor for GDF15 which regulatesfood intake, energy expenditure and body weight in response tometabolic and toxin-induced stresses (PubMed:28953886,PubMed:28846097, PubMed:28846098, PubMed:28846099). Uponinteraction with its ligand, GDF15, interacts with RET and inducescellular signaling through activation of MAPK- and AKT- signalingpathways. {ECO:0000269|PubMed:28846097,ECO:0000269|PubMed:28846098, ECO:0000269|PubMed:28846099,ECO:0000269|PubMed:28953886}. |
![]() * 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 CCDC138_GFRAL |
![]() (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 CCDC138_GFRAL |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CCDC138 | SAV1, STX12, DCTN2, BTRC, CEP63, KIAA0753, CCDC14, MED4, CEP290, CEP162, PCM1, SSX2IP, AHI1, OFD1, CC2D2A, CEP170, CEP104, CEP120, CEP152, SPICE1, CEP128, CEP135, CEP89, CNTRL, NINL, NIN, ODF2, RPGRIP1L, SCLT1, POC5, LCA5, SASS6, CENPJ, FGFR1OP, PTPN22, TPTE2, PAK7 | GFRAL |
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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 CCDC138_GFRAL |
![]() (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 CCDC138_GFRAL |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |