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Fusion gene ID: 7221 |
FusionGeneSummary for CIAO1_SH2D6 |
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Fusion gene information | Fusion gene name: CIAO1_SH2D6 | Fusion gene ID: 7221 | Hgene | Tgene | Gene symbol | CIAO1 | SH2D6 | Gene ID | 9391 | 284948 |
Gene name | cytosolic iron-sulfur assembly component 1 | SH2 domain containing 6 | |
Synonyms | CIA1|WDR39 | - | |
Cytomap | 2q11.2 | 2p11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | probable cytosolic iron-sulfur protein assembly protein CIAO1WD repeat domain 39WD repeat-containing protein 39WD40 protein Ciao1cytosolic iron-sulfur protein assembly 1 homolog | SH2 domain-containing protein 6 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O76071 | Q7Z4S9 | |
Ensembl transtripts involved in fusion gene | ENST00000488633, ENST00000469320, | ENST00000389938, ENST00000481426, ENST00000340326, | |
Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 1 X 1 X 1=1 |
# samples | 7 | 1 | |
** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: CIAO1 [Title/Abstract] AND SH2D6 [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 |
![]() (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 | LD | BLCA | TCGA-GD-A3OS-01A | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
* 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 |
5CDS-5UTR | ENST00000488633 | ENST00000389938 | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
5CDS-intron | ENST00000488633 | ENST00000481426 | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
5CDS-intron | ENST00000488633 | ENST00000340326 | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
3UTR-5UTR | ENST00000469320 | ENST00000389938 | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
3UTR-intron | ENST00000469320 | ENST00000481426 | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
3UTR-intron | ENST00000469320 | ENST00000340326 | CIAO1 | chr2 | 96933207 | + | SH2D6 | chr2 | 85649326 | + |
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FusionProtFeatures for CIAO1_SH2D6 |
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Hgene | Tgene |
CIAO1 | SH2D6 |
Key component of the cytosolic iron-sulfur proteinassembly (CIA) complex, a multiprotein complex that mediates theincorporation of iron-sulfur cluster into extramitochondrial Fe/Sproteins. Seems to specifically modulate the transactivationactivity of WT1. As part of the mitotic spindle-associated MMXDcomplex it may play a role in chromosome segregation.{ECO:0000255|HAMAP-Rule:MF_03037, ECO:0000269|PubMed:17937914,ECO:0000269|PubMed:20797633}. |
![]() * 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 CIAO1_SH2D6 |
![]() (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 CIAO1_SH2D6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CIAO1 | CCDC7, FAM96B, FAM96A, GAS8, CCAR2, MLF2, MCM5, USP11, DNAAF5, MYO1C, WDR5, WT1, APP, MMS19, SRPK1, CHD1L, ERCC2, IREB2, PHAX, UPF3B, WDR75, DPP8, DPP9, POLA2, POLE, TYW1, YAE1D1, TOE1, LEO1, WDR43, NUP35, ELP2, GLRX3, MRE11A, PLEKHA5, PPAT, UCKL1, TSC2, MAK16, ERP29, RTEL1, CNP, ABCE1, TSC1, PPIL4, WDR61, ELP3, POLA1, PAF1, EEPD1, ELP5, ELP6, CTU2, NSRP1, CDKAL1, SF1, CDC73, CTR9, FMNL3, ELP4, FMNL2, POLD1, NARFL, CTU1, UGDH, PRIM1, PRIM2, DNA2, GOLGA3, MEOX1, MPPED1, SLC30A4, WBP1, RSAD2, MTM1, CPLX3, FBXL5, RGS13 | SH2D6 |
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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 CIAO1_SH2D6 |
![]() (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 CIAO1_SH2D6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |