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Fusion gene ID: 18578 |
FusionGeneSummary for KIAA0319L_CIB2 |
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Fusion gene information | Fusion gene name: KIAA0319L_CIB2 | Fusion gene ID: 18578 | Hgene | Tgene | Gene symbol | KIAA0319L | CIB2 | Gene ID | 79932 | 10518 |
Gene name | KIAA0319 like | calcium and integrin binding family member 2 | |
Synonyms | AAVR|AAVRL | DFNB48|KIP2|USH1J | |
Cytomap | 1p34.3 | 15q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | dyslexia-associated protein KIAA0319-like proteinAAV receptorAAV receptor likeadeno-associated virus receptorpolycystic kidney disease 1-related | calcium and integrin-binding family member 2DNA-dependent protein kinase catalytic subunit-interacting protein 2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q8IZA0 | O75838 | |
Ensembl transtripts involved in fusion gene | ENST00000325722, ENST00000373266, ENST00000485551, | ENST00000258930, ENST00000539011, ENST00000557846, ENST00000560618, | |
Fusion gene scores | * DoF score | 14 X 8 X 10=1120 | 5 X 2 X 4=40 |
# samples | 14 | 5 | |
** MAII score | log2(14/1120*10)=-3 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). 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: KIAA0319L [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 | LIHC | TCGA-BW-A5NO-01A | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
* 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 |
5UTR-3CDS | ENST00000325722 | ENST00000258930 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
5UTR-5UTR | ENST00000325722 | ENST00000539011 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
5UTR-intron | ENST00000325722 | ENST00000557846 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
5UTR-5UTR | ENST00000325722 | ENST00000560618 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-3CDS | ENST00000373266 | ENST00000258930 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-5UTR | ENST00000373266 | ENST00000539011 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-intron | ENST00000373266 | ENST00000557846 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-5UTR | ENST00000373266 | ENST00000560618 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-3CDS | ENST00000485551 | ENST00000258930 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-5UTR | ENST00000485551 | ENST00000539011 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-intron | ENST00000485551 | ENST00000557846 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
intron-5UTR | ENST00000485551 | ENST00000560618 | KIAA0319L | chr1 | 36022808 | - | CIB2 | chr15 | 78403618 | - |
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FusionProtFeatures for KIAA0319L_CIB2 |
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Hgene | Tgene |
KIAA0319L | CIB2 |
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 |
- 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 KIAA0319L_CIB2 |
![]() (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 KIAA0319L_CIB2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KIAA0319L | SIAH1, LGALS3, CEACAM21, LGALS8, LGALS9, FCN1, GINM1, MMP3, PILRA, TMEM17, TMEM216, CD4, CCDC40, TMEM30B, MGAT4C, LACRT, LMAN2L, TMPRSS3, LRRTM1, ST8SIA4, PCDHB7, HLA-DRB1, SERPINA12 | 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 KIAA0319L_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 KIAA0319L_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 |