|
Fusion gene ID: 17604 |
FusionGeneSummary for INTS7_DTL |
Fusion gene summary |
Fusion gene information | Fusion gene name: INTS7_DTL | Fusion gene ID: 17604 | Hgene | Tgene | Gene symbol | INTS7 | DTL | Gene ID | 25896 | 51514 |
Gene name | integrator complex subunit 7 | denticleless E3 ubiquitin protein ligase homolog | |
Synonyms | C1orf73|INT7 | CDT2|DCAF2|L2DTL|RAMP | |
Cytomap | 1q32.3 | 1q32.3 | |
Type of gene | protein-coding | protein-coding | |
Description | integrator complex subunit 7 | denticleless protein homologDDB1- and CUL4-associated factor 2RA-regulated nuclear matrix-associated proteinlethal(2) denticleless protein homologretinoic acid-regulated nuclear matrix-associated protein | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9NVH2 | Q9NZJ0 | |
Ensembl transtripts involved in fusion gene | ENST00000469606, ENST00000366994, ENST00000366993, ENST00000366992, ENST00000440600, | ENST00000366991, ENST00000542077, ENST00000475419, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 3 X 3 X 3=27 |
# samples | 1 | 3 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: INTS7 [Title/Abstract] AND DTL [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 | INTS7 | GO:0016180 | snRNA processing | 16239144 |
Hgene | INTS7 | GO:0071479 | cellular response to ionizing radiation | 21659603 |
Tgene | DTL | GO:0000209 | protein polyubiquitination | 18794347 |
Tgene | DTL | GO:0006511 | ubiquitin-dependent protein catabolic process | 18794347 |
Tgene | DTL | GO:0006513 | protein monoubiquitination | 20129063 |
Tgene | DTL | GO:0006974 | cellular response to DNA damage stimulus | 20129063 |
Tgene | DTL | GO:0009411 | response to UV | 18794347 |
Tgene | DTL | GO:0019985 | translesion synthesis | 20129063 |
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 | RV | PRAD | TCGA-CH-5752-01A | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
* 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 |
5UTR-3CDS | ENST00000469606 | ENST00000366991 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
5UTR-3CDS | ENST00000469606 | ENST00000542077 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
5UTR-3UTR | ENST00000469606 | ENST00000475419 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000366994 | ENST00000366991 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000366994 | ENST00000542077 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
5CDS-3UTR | ENST00000366994 | ENST00000475419 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000366993 | ENST00000366991 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000366993 | ENST00000542077 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
5CDS-3UTR | ENST00000366993 | ENST00000475419 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000366992 | ENST00000366991 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000366992 | ENST00000542077 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
5CDS-3UTR | ENST00000366992 | ENST00000475419 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000440600 | ENST00000366991 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Frame-shift | ENST00000440600 | ENST00000542077 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
5CDS-3UTR | ENST00000440600 | ENST00000475419 | INTS7 | chr1 | 212208686 | - | DTL | chr1 | 212236226 | + |
Top |
FusionProtFeatures for INTS7_DTL |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
INTS7 | DTL |
Substrate-specific adapter of a DCX (DDB1-CUL4-X-box) E3ubiquitin-protein ligase complex required for cell cycle control,DNA damage response and translesion DNA synthesis. The DCX(DTL)complex, also named CRL4(CDT2) complex, mediates thepolyubiquitination and subsequent degradation of CDT1,CDKN1A/p21(CIP1), FBH1, KMT5A and SDE2 (PubMed:16861906,PubMed:16949367, PubMed:16964240, PubMed:17085480,PubMed:18703516, PubMed:18794347, PubMed:18794348,PubMed:19332548, PubMed:20129063, PubMed:23478441,PubMed:23478445, PubMed:23677613, PubMed:27906959). CDT1degradation in response to DNA damage is necessary to ensureproper cell cycle regulation of DNA replication (PubMed:16861906,PubMed:16949367, PubMed:17085480). CDKN1A/p21(CIP1) degradationduring S phase or following UV irradiation is essential to controlreplication licensing (PubMed:18794348, PubMed:19332548). KMT5Adegradation is also important for a proper regulation ofmechanisms such as TGF-beta signaling, cell cycle progression, DNArepair and cell migration (PubMed:23478445). Most substratesrequire their interaction with PCNA for their polyubiquitination:substrates interact with PCNA via their PIP-box, and thosecontaining the 'K+4' motif in the PIP box, recruit the DCX(DTL)complex, leading to their degradation. In undamaged proliferatingcells, the DCX(DTL) complex also promotes the 'Lys-164'monoubiquitination of PCNA, thereby being involved in PCNA-dependent translesion DNA synthesis (PubMed:20129063,PubMed:23478441, PubMed:23478445, PubMed:23677613).{ECO:0000269|PubMed:16861906, ECO:0000269|PubMed:16949367,ECO:0000269|PubMed:16964240, ECO:0000269|PubMed:17085480,ECO:0000269|PubMed:18703516, ECO:0000269|PubMed:18794347,ECO:0000269|PubMed:18794348, ECO:0000269|PubMed:19332548,ECO:0000269|PubMed:20129063, ECO:0000269|PubMed:23478441,ECO:0000269|PubMed:23478445, ECO:0000269|PubMed:23677613,ECO:0000269|PubMed:27906959}. |
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 |
Top |
FusionGeneSequence for INTS7_DTL |
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). |
Top |
FusionGenePPI for INTS7_DTL |
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 |
INTS7 | RPAP2, INTS1, INTS3, INTS5, INTS6, SHFM1, INTS10, CTDP1, INTS2, INTS8, PAXIP1, SOX2, DCP2, SSBP1, HLA-DPA1, SPACA1, NRG1, SLAMF1, DLK1, TMEFF1, PRKCSH, VSIG4, FNDC4, FAF2, C7orf26, CPSF3L, ASUN, FGD1, HNRNPD, PML, RALA, BUB3, VPS26A, CKAP5, SYNCRIP, KIF1C, GOLT1B, ANLN, ACTR5, SCN3B, VSIG1, CD79B, PDCD1, TOR1AIP2, CLEC14A, PMEL, NTRK3, MGRN1, TNFRSF17, IL13RA2, TRIM25 | DTL | CDKN1A, COPS6, DDB1, CUL4B, CUL4A, WDR5, SETD8, KAT2A, PCNA, MSH6, MSH2, TP53, MDM2, COPS5, AURKB, TOB1, ATR, TUBG1, DDA1, COPS3, COPS4, CHEK1, CFTR, SHPRH, HLTF, RAD18, FBXO11, LYN, CDT1, FBXO18, TDG, YWHAE, YWHAQ, YWHAZ, YWHAB, YWHAG, YWHAH, SFN, UBE2D1, UBE2N, TCEAL1, C9orf41, ERCC5, UBE2I, COPS7A, WHSC1, RBX1, UBE2E2, UBE2E3, UBE2E1, POLD4, CCT3, PFDN2, CCT7, SSSCA1, COPS8, GLMN, PDDC1, CAMK2D, DEF8 |
- 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 |
Top |
RelatedDrugs for INTS7_DTL |
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 |
Top |
RelatedDiseases for INTS7_DTL |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DTL | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Tgene | DTL | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |