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Fusion gene ID: 16194 |
FusionGeneSummary for HIP1_SLC30A5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HIP1_SLC30A5 | Fusion gene ID: 16194 | Hgene | Tgene | Gene symbol | HIP1 | SLC30A5 | Gene ID | 3092 | 64924 |
| Gene name | huntingtin interacting protein 1 | solute carrier family 30 member 5 | |
| Synonyms | HIP-I|ILWEQ|SHON|SHONbeta|SHONgamma | ZNT5|ZNTL1|ZTL1|ZnT-5 | |
| Cytomap | 7q11.23 | 5q13.1-q13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | huntingtin-interacting protein 1huntingtin-interacting protein I | zinc transporter 5solute carrier family 30 (zinc transporter), member 5zinc transporter ZTL1znT-like transporter 1 | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | O00291 | Q8TAD4 | |
| Ensembl transtripts involved in fusion gene | ENST00000336926, ENST00000434438, ENST00000479835, | ENST00000396591, ENST00000380860, ENST00000502979, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HIP1 [Title/Abstract] AND SLC30A5 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | HIP1 | GO:0006915 | apoptotic process | 11788820 |
| Hgene | HIP1 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 11788820 |
| Hgene | HIP1 | GO:0042981 | regulation of apoptotic process | 11788820 |
| Hgene | HIP1 | GO:0048268 | clathrin coat assembly | 11577110|11889126 |
| Hgene | HIP1 | GO:0050821 | protein stabilization | 14732715 |
| Hgene | HIP1 | GO:0097190 | apoptotic signaling pathway | 11007801 |
| Tgene | SLC30A5 | GO:0006824 | cobalt ion transport | 10330022|11937503 |
| Tgene | SLC30A5 | GO:0006829 | zinc ion transport | 10330022|11937503 |
| Tgene | SLC30A5 | GO:0006882 | cellular zinc ion homeostasis | 11937503 |
| Tgene | SLC30A5 | GO:0010043 | response to zinc ion | 11937503 |
| Fusion gene information from three resources (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 | SKCM | TCGA-EE-A17Z-06A | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 | ENST00000336926 | ENST00000396591 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| 5CDS-intron | ENST00000336926 | ENST00000380860 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| 5CDS-intron | ENST00000336926 | ENST00000502979 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| Frame-shift | ENST00000434438 | ENST00000396591 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| 5CDS-intron | ENST00000434438 | ENST00000380860 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| 5CDS-intron | ENST00000434438 | ENST00000502979 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| intron-3CDS | ENST00000479835 | ENST00000396591 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| intron-intron | ENST00000479835 | ENST00000380860 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
| intron-intron | ENST00000479835 | ENST00000502979 | HIP1 | chr7 | 75210553 | - | SLC30A5 | chr5 | 68425274 | + |
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FusionProtFeatures for HIP1_SLC30A5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HIP1 | SLC30A5 |
| Plays a role in clathrin-mediated endocytosis andtrafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126).Involved in regulating AMPA receptor trafficking in the centralnervous system in an NMDA-dependent manner (By similarity).Regulates presynaptic nerve terminal activity (By similarity).Enhances androgen receptor (AR)-mediated transcription(PubMed:16027218). May act as a proapoptotic protein that inducescell death by acting through the intrinsic apoptosis pathway(PubMed:11007801). Binds 3-phosphoinositides (via ENTH domain)(PubMed:14732715). May act through the ENTH domain to promote cellsurvival by stabilizing receptor tyrosine kinases followingligand-induced endocytosis (PubMed:14732715). May play afunctional role in the cell filament networks (PubMed:18790740).May be required for differentiation, proliferation, and/orsurvival of somatic and germline progenitors (PubMed:11007801,PubMed:12163454). {ECO:0000250|UniProtKB:Q8VD75,ECO:0000269|PubMed:11007801, ECO:0000269|PubMed:11532990,ECO:0000269|PubMed:11577110, ECO:0000269|PubMed:11889126,ECO:0000269|PubMed:12163454, ECO:0000269|PubMed:14732715,ECO:0000269|PubMed:16027218, ECO:0000269|PubMed:18790740,ECO:0000269|PubMed:9147654}. | Functions as a zinc transporter. May be a transporter ofzinc into beta cells in order to form insulin crystals. Partlyregulates cellular zinc homeostasis. Required with ZNT7 for theactivation of zinc-requiring enzymes, alkaline phosphatases(ALPs). Transports zinc into the lumens of the Golgi apparatus andvesicular compartments where ALPs locate, thus, converting apoALPsto holoALPs. Required with ZNT6 and ZNT7 for the activation ofTNAP. {ECO:0000269|PubMed:11904301, ECO:0000269|PubMed:11937503,ECO:0000269|PubMed:15276077, ECO:0000269|PubMed:15525635,ECO:0000269|PubMed:15994300}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 HIP1_SLC30A5 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 HIP1_SLC30A5 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| HIP1 | PFDN1, RPS10, EIF6, HTT, HIP1R, CLTC, IFT57, CASP8, MAPK6, ITSN1, BFAR, FBXO25, HIP1, REL, DAZAP2, MAP3K1, CCDC67, NTRK1, TMEM17, GAK, MYH9, GTSE1, SMURF1, EGFR, CPNE2, TRIM25 | SLC30A5 | ELAVL1, SRSF1, ATP6V1B1, ATP6V0A1, TCIRG1, NT5E, HNRNPD, ABCC2, VAMP2, ATP6V1E1, DNM2, SLC30A6, RIC3, B3GNT3, LPAR1, CHRNA9, CLPSL1, TCTN3, TMEM17, TMEM216, SPPL2B, CSGALNACT2, FPR2, CYB5D2, TPRA1, CD79B, CD70, MAS1, IPPK, FUT3, DPEP1, CD83, IL1R2 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HIP1_SLC30A5 |
| Drugs targeting genes involved in this fusion gene. (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 HIP1_SLC30A5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HIP1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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