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Fusion gene ID: 10231 |
FusionGeneSummary for DNAJC17_CIB2 |
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Fusion gene information | Fusion gene name: DNAJC17_CIB2 | Fusion gene ID: 10231 | Hgene | Tgene | Gene symbol | DNAJC17 | CIB2 | Gene ID | 55192 | 10518 |
Gene name | DnaJ heat shock protein family (Hsp40) member C17 | calcium and integrin binding family member 2 | |
Synonyms | - | DFNB48|KIP2|USH1J | |
Cytomap | 15q15.1 | 15q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | dnaJ homolog subfamily C member 17DnaJ (Hsp40) homolog, subfamily C, member 17 | calcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9NVM6 | O75838 | |
Ensembl transtripts involved in fusion gene | ENST00000220496, ENST00000558727, | ENST00000258930, ENST00000539011, ENST00000557846, ENST00000560618, | |
Fusion gene scores | * DoF score | 5 X 2 X 5=50 | 5 X 2 X 4=40 |
# samples | 7 | 5 | |
** MAII score | log2(7/50*10)=0.485426827170242 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: DNAJC17 [Title/Abstract] AND CIB2 [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 | CIB2 | GO:0007204 | positive regulation of cytosolic calcium ion concentration | 23023331|26173970 |
Tgene | CIB2 | GO:0071318 | cellular response to ATP | 23023331|26173970 |
![]() (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 | LUAD | TCGA-55-1592-01A | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
* 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 |
In-frame | ENST00000220496 | ENST00000258930 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
5CDS-intron | ENST00000220496 | ENST00000539011 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
5CDS-intron | ENST00000220496 | ENST00000557846 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
5CDS-intron | ENST00000220496 | ENST00000560618 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
intron-3CDS | ENST00000558727 | ENST00000258930 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
intron-intron | ENST00000558727 | ENST00000539011 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
intron-intron | ENST00000558727 | ENST00000557846 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
intron-intron | ENST00000558727 | ENST00000560618 | DNAJC17 | chr15 | 41099567 | - | CIB2 | chr15 | 78416081 | - |
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FusionProtFeatures for DNAJC17_CIB2 |
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Hgene | Tgene |
DNAJC17 | CIB2 |
May negatively affect PAX8-induced thyroglobulin/TGtranscription. {ECO:0000250|UniProtKB:Q91WT4}. | Calcium-binding protein critical for properphotoreceptor cell maintenance and function. Plays a role inintracellular calcium homeostasis by decreasing ATP-inducedcalcium release (PubMed:23023331, PubMed:26173970,PubMed:26426422). May be involved in the mechanotransductionprocess (By similarity). {ECO:0000250,ECO:0000269|PubMed:23023331, ECO:0000269|PubMed:26173970,ECO:0000269|PubMed:26426422}. |
![]() * 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 |
Tgene | >CIB2 | chr15:41099567 | chr15:78416081 | ENST00000258930 | - | 0 | 6 | 116_127 | 17 | 188 | Calcium binding | 1 |
Tgene | >CIB2 | chr15:41099567 | chr15:78416081 | ENST00000258930 | - | 0 | 6 | 157_168 | 17 | 188 | Calcium binding | 2 |
Tgene | >CIB2 | chr15:41099567 | chr15:78416081 | ENST00000258930 | - | 0 | 6 | 103_138 | 17 | 188 | Domain | EF-hand 2 |
Tgene | >CIB2 | chr15:41099567 | chr15:78416081 | ENST00000258930 | - | 0 | 6 | 144_179 | 17 | 188 | Domain | EF-hand 3 |
Tgene | >CIB2 | chr15:41099567 | chr15:78416081 | ENST00000258930 | - | 0 | 6 | 66_101 | 17 | 188 | Domain | EF-hand 1 |
- 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 |
Hgene | >DNAJC17 | chr15:41099567 | chr15:78416081 | ENST00000220496 | - | 1 | 11 | 111_117 | 26 | 305 | Compositional bias | Note=Poly-Glu |
Hgene | >DNAJC17 | chr15:41099567 | chr15:78416081 | ENST00000220496 | - | 1 | 11 | 11_76 | 26 | 305 | Domain | J |
Hgene | >DNAJC17 | chr15:41099567 | chr15:78416081 | ENST00000220496 | - | 1 | 11 | 178_249 | 26 | 305 | Domain | Note=RRM |
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FusionGeneSequence for DNAJC17_CIB2 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_DNAJC17_ENST00000220496_chr15_41099567_-_CIB2_ENST00000258930_chr15_78416081_-_197aa MAVTKELLQMDLYALLGIEEKAADKEDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLIIQMPELRENPFKERIVAAFSED GEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTDNFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFED |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_DNAJC17_ENST00000220496_chr15_41099567_-_CIB2_ENST00000258930_chr15_78416081_-_591nt ATGGCAGTGACCAAGGAGCTCTTACAGATGGACCTGTACGCGCTGCTAGGCATTGAGGAGAAGGCAGCGGACAAAGAGGACTGCACCTTC TTCAATAAGAAGGACATCCTCAAGCTGCATTCGCGATTCTATGAGCTGGCCCCCAACCTCGTCCCAATGGACTACAGGAAGAGCCCCATC GTCCACGTGCCCATGAGCCTCATCATCCAGATGCCAGAGCTCCGGGAGAATCCCTTCAAAGAAAGGATCGTGGCGGCGTTTTCCGAGGAT GGTGAGGGGAACCTCACTTTCAACGACTTTGTGGACATGTTTTCCGTGCTCTGCGAGTCGGCTCCCCGAGAGCTCAAGGCAAACTATGCC TTCAAGATCTATGACTTCAACACTGACAACTTCATCTGCAAGGAGGACCTGGAGCTGACGCTGGCCCGGCTCACTAAGTCAGAGCTGGAT GAGGAGGAGGTGGTGCTTGTGTGCGACAAGGTCATTGAGGAGGCTGACTTGGACGGTGACGGCAAGCTGGGCTTTGCTGACTTCGAGGAC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_DNAJC17_ENST00000220496_chr15_41099567_-_CIB2_ENST00000258930_chr15_78416081_-_1327nt AGTTGTAGTACGAATCCGTCAGGCCGGAACCATGGCAGTGACCAAGGAGCTCTTACAGATGGACCTGTACGCGCTGCTAGGCATTGAGGA GAAGGCAGCGGACAAAGAGGACTGCACCTTCTTCAATAAGAAGGACATCCTCAAGCTGCATTCGCGATTCTATGAGCTGGCCCCCAACCT CGTCCCAATGGACTACAGGAAGAGCCCCATCGTCCACGTGCCCATGAGCCTCATCATCCAGATGCCAGAGCTCCGGGAGAATCCCTTCAA AGAAAGGATCGTGGCGGCGTTTTCCGAGGATGGTGAGGGGAACCTCACTTTCAACGACTTTGTGGACATGTTTTCCGTGCTCTGCGAGTC GGCTCCCCGAGAGCTCAAGGCAAACTATGCCTTCAAGATCTATGACTTCAACACTGACAACTTCATCTGCAAGGAGGACCTGGAGCTGAC GCTGGCCCGGCTCACTAAGTCAGAGCTGGATGAGGAGGAGGTGGTGCTTGTGTGCGACAAGGTCATTGAGGAGGCTGACTTGGACGGTGA CGGCAAGCTGGGCTTTGCTGACTTCGAGGACATGATTGCCAAGGCCCCTGACTTCCTCAGCACTTTCCACATCCGGATCTGAGGACACTG CCGAGGCTGTAGGGGCCTAGAAGTCCACCATCCTGCCCTGCAGTCACATGGGTGTGGCCTCCAAGCTCCCCAGGAAAGCAGTGGCAGCCT CTGGGGTTTACACCACAAATATATCCTGTGGCCCTTTCAGCAAAAAAAAAACCTTAACCAGGAAGGGGGCCTGTGAAGGTTAGGACCCTT CCCACAGCCCCGCTGTGGTCCAGCCCCGGGACCCATGGCCTCTCTCCAGGCCCTCCGCACCCCGCCCCATGCCCCAGTCCTTTCCTACTC CAGAAATGCTCCCCACCCCCCCAAAGAGGGAAAAGCAGATAACCCAACAGGAGGTGGTGGGGTCTGACGTGTCCAAGTGCTGGCAGACAC CCTGGTCACCCAGGACAGAGCGGAAAAAAAAAAAAGAGGTCAGGGTTTTAACGAGCTATGCAATCTTTTTCCAAAACCCAAGGTTGGGCT GCTTCCCACCCCTGCCTGTTCCCCTTCTCCCGGCCTCCTTCACAATGTGAAGCTGTGGGTGCAGTGGGCCCAAGGGCTCTTGCTCCTGTC TCTGCCTCTGGGTCATGAGTACCACCCTGCCTGCCTCCCCAACACCGTGGAATCCTCACTGGTGTGCTGTCCACAGATTTGTGAACTCCT |
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FusionGenePPI for DNAJC17_CIB2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DNAJC17 | PTH1R, C1orf123, C12orf10, DHX29, ELAC2, HSPA5, KIN, TRMT6, HSPA14, HSPA9, HSPH1, HYOU1, HIST1H2BG | CIB2 | EMC2 |
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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 DNAJC17_CIB2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CIB2 | O75838 | DB11093 | Calcium Citrate | Calcium and integrin-binding family member 2 | small molecule | approved |
Tgene | CIB2 | O75838 | DB11348 | Calcium Phosphate | Calcium and integrin-binding family member 2 | small molecule | approved |
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RelatedDiseases for DNAJC17_CIB2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CIB2 | C1836199 | DEAFNESS, AUTOSOMAL RECESSIVE 48 | 3 | UNIPROT |
Tgene | CIB2 | C3553944 | USHER SYNDROME, TYPE IJ | 1 | CTD_human;UNIPROT |