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Fusion gene ID: 3133 |
FusionGeneSummary for ATF6_PCP4L1 |
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Fusion gene information | Fusion gene name: ATF6_PCP4L1 | Fusion gene ID: 3133 | Hgene | Tgene | Gene symbol | ATF6 | PCP4L1 | Gene ID | 22926 | 654790 |
Gene name | activating transcription factor 6 | Purkinje cell protein 4 like 1 | |
Synonyms | ACHM7|ATF6A | IQM1 | |
Cytomap | 1q23.3 | 1q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclic AMP-dependent transcription factor ATF-6 alphacAMP-dependent transcription factor ATF-6 alpha | Purkinje cell protein 4-like protein 1PCP4-like protein 1 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | P18850 | A6NKN8 | |
Ensembl transtripts involved in fusion gene | ENST00000367942, ENST00000476437, | ENST00000504449, | |
Fusion gene scores | * DoF score | 8 X 7 X 5=280 | 2 X 1 X 2=4 |
# samples | 7 | 2 | |
** MAII score | log2(7/280*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: ATF6 [Title/Abstract] AND PCP4L1 [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 |
Hgene | ATF6 | GO:0043065 | positive regulation of apoptotic process | 14752510 |
Hgene | ATF6 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 14973138 |
Hgene | ATF6 | GO:1903893 | positive regulation of ATF6-mediated unfolded protein response | 9837962 |
Hgene | ATF6 | GO:1990440 | positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress | 11163209|11256944|16469704 |
![]() (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-44-7660-01A | ATF6 | chr1 | 161772062 | + | PCP4L1 | chr1 | 161253458 | + |
* 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 | ENST00000367942 | ENST00000504449 | ATF6 | chr1 | 161772062 | + | PCP4L1 | chr1 | 161253458 | + |
intron-3CDS | ENST00000476437 | ENST00000504449 | ATF6 | chr1 | 161772062 | + | PCP4L1 | chr1 | 161253458 | + |
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FusionProtFeatures for ATF6_PCP4L1 |
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Hgene | Tgene |
ATF6 | PCP4L1 |
Transmembrane glycoprotein of the endoplasmic reticulumthat functions as a transcription activator and initiates theunfolded protein response (UPR) during endoplasmic reticulumstress. Cleaved upon ER stress, the N-terminal processed cyclicAMP-dependent transcription factor ATF-6 alpha translocates to thenucleus where it activates transcription of genes involved in theUPR. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress responseelement (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y toERSE. Could also be involved in activation of transcription by theserum response factor. May play a role in foveal development andcone function in the retina. {ECO:0000269|PubMed:10564271,ECO:0000269|PubMed:11158310, ECO:0000269|PubMed:11779464,ECO:0000269|PubMed:26029869}. |
![]() * 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 |
Hgene | ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 124_127 | 303 | 671 | Compositional bias | Note=Poly-Ser |
Hgene | ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 1_150 | 303 | 671 | Region | Note=Transcription activation |
Tgene | >PCP4L1 | chr1:161772062 | chr1:161253458 | ENST00000504449 | + | 0 | 3 | 45_68 | 3 | 69 | Domain | Note=IQ |
- 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 | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 325_328 | 303 | 671 | Compositional bias | Note=Poly-Lys |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 463_466 | 303 | 671 | Compositional bias | Note=Poly-Pro |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 306_369 | 303 | 671 | Domain | bZIP |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 308_339 | 303 | 671 | Region | Note=Basic motif |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 348_355 | 303 | 671 | Region | Note=Leucine-zipper |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 1_377 | 303 | 671 | Topological domain | Cytoplasmic |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 399_670 | 303 | 671 | Topological domain | Lumenal |
Hgene | >ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 378_398 | 303 | 671 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
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FusionGeneSequence for ATF6_PCP4L1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_ATF6_ENST00000367942_chr1_161772062_+_PCP4L1_ENST00000504449_chr1_161253458_+_369aa MGEPAGVAGTMESPFSPGLFHRLDEDWDSALFAELGYFTDTDELQLEAANETYENNFDNLDFDLDLMPWESDIWDINNQICTVKDIKAEP QPLSPASSSYSVSSPRSVDSYSSTQHVPEELDLSSSSQMSPLSLYGENSNSLSSAEPLKEDKPVTGPRNKTENGLTPKKKIQVNSKPSIQ PKPLLLPAAPKTQTNSSVPAKTIIIQTVPTLMPLAKQQPIISLQPAPTKGQTVLLSQPTVVQLQAPGVLPSAQPVLAVAGGVTQLPNHVV NVVPAPSANSPVNGKLSVTKPVLQSTMRNVGSDLNTKTSPATNQAAGQEEKGKAGNVKKAEEEEEIDIDLTAPETEKAALAIQGKFRRFQ |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ATF6_ENST00000367942_chr1_161772062_+_PCP4L1_ENST00000504449_chr1_161253458_+_1107nt ATGGGGGAGCCGGCTGGGGTTGCCGGCACCATGGAGTCACCTTTTAGCCCGGGACTCTTTCACAGGCTGGATGAAGATTGGGATTCTGCT CTCTTTGCTGAACTCGGTTATTTCACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTATGAAAACAATTTTGATAATCTT GATTTTGATTTGGATTTGATGCCTTGGGAGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCT CAGCCACTTTCTCCAGCCTCCTCAAGTTATTCAGTCTCGTCTCCTCGGTCAGTGGACTCTTATTCTTCAACTCAGCATGTTCCTGAGGAG TTGGATTTGTCTTCTAGTTCTCAGATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTCTCTTCAGCGGAGCCACTGAAGGAA GATAAGCCTGTCACTGGTCCTAGGAACAAGACTGAAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTCAATTCAG CCCAAGCCTTTATTGCTTCCAGCAGCACCCAAGACTCAAACAAACTCCAGTGTTCCAGCAAAAACCATCATTATTCAGACAGTACCAACG CTTATGCCATTGGCAAAGCAGCAACCAATTATCAGTTTACAACCTGCACCCACTAAAGGCCAGACGGTTTTGCTGTCTCAGCCTACTGTG GTACAACTTCAAGCACCTGGAGTTCTGCCCTCTGCTCAGCCAGTCCTTGCTGTTGCTGGGGGAGTCACACAGCTCCCTAATCACGTGGTG AATGTGGTACCAGCCCCTTCAGCGAATAGCCCAGTGAATGGAAAACTTTCCGTGACTAAACCTGTCCTACAAAGTACCATGAGAAATGTC GGTTCAGATCTTAATACCAAAACATCCCCAGCAACCAACCAGGCAGCTGGCCAAGAGGAAAAAGGAAAAGCTGGCAATGTCAAGAAGGCG GAGGAGGAGGAGGAGATTGACATTGATCTGACAGCACCAGAAACAGAGAAGGCTGCCCTTGCTATTCAGGGCAAGTTCCGGCGATTTCAG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ATF6_ENST00000367942_chr1_161772062_+_PCP4L1_ENST00000504449_chr1_161253458_+_2143nt TTTTGTCCGCCTGCCGCCGCCGTCCCAGATATTAATCACGGAGTTCCAGGGAGAAGGAACTTGTGAAATGGGGGAGCCGGCTGGGGTTGC CGGCACCATGGAGTCACCTTTTAGCCCGGGACTCTTTCACAGGCTGGATGAAGATTGGGATTCTGCTCTCTTTGCTGAACTCGGTTATTT CACAGACACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTATGAAAACAATTTTGATAATCTTGATTTTGATTTGGATTTGATGCC TTGGGAGTCAGACATTTGGGACATCAACAACCAAATCTGTACAGTTAAAGATATTAAGGCAGAACCTCAGCCACTTTCTCCAGCCTCCTC AAGTTATTCAGTCTCGTCTCCTCGGTCAGTGGACTCTTATTCTTCAACTCAGCATGTTCCTGAGGAGTTGGATTTGTCTTCTAGTTCTCA GATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAATAGTCTCTCTTCAGCGGAGCCACTGAAGGAAGATAAGCCTGTCACTGGTCCTAG GAACAAGACTGAAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTCAATTCAGCCCAAGCCTTTATTGCTTCCAGC AGCACCCAAGACTCAAACAAACTCCAGTGTTCCAGCAAAAACCATCATTATTCAGACAGTACCAACGCTTATGCCATTGGCAAAGCAGCA ACCAATTATCAGTTTACAACCTGCACCCACTAAAGGCCAGACGGTTTTGCTGTCTCAGCCTACTGTGGTACAACTTCAAGCACCTGGAGT TCTGCCCTCTGCTCAGCCAGTCCTTGCTGTTGCTGGGGGAGTCACACAGCTCCCTAATCACGTGGTGAATGTGGTACCAGCCCCTTCAGC GAATAGCCCAGTGAATGGAAAACTTTCCGTGACTAAACCTGTCCTACAAAGTACCATGAGAAATGTCGGTTCAGATCTTAATACCAAAAC ATCCCCAGCAACCAACCAGGCAGCTGGCCAAGAGGAAAAAGGAAAAGCTGGCAATGTCAAGAAGGCGGAGGAGGAGGAGGAGATTGACAT TGATCTGACAGCACCAGAAACAGAGAAGGCTGCCCTTGCTATTCAGGGCAAGTTCCGGCGATTTCAGAAAAGGAAAAAGGATCCCAGCTC CTGAATGGCCAGGCTTGCCCTTCACCTTCACCTTCATGCTGGTCCCTTCTCTCCCCTTCTCCACACCCATGTATCTTTATCCCTTGTCCC TCTAGCCTTTCCTTGAGGCAAGTTCAACCTTTATATACTCTTGTATCTGGCCCCCTCAAGCCATCACAGAAGTAGAGGCACAAGAGAGGT GGAGAAGATGAAGACTTCAATCAGCAGTCACTAGTCTAAGGGTGGAACAATTTCTTCTTGGTATAAGGTTCTTTGATCAGTAGCTATGCC TGCCCTGTAGGGCTAAACAAGAGGCTTCGAGGCTGAGAGATCTCCCCAAAGAACAATGTGGGAAGGAGGGGAAGGCTTTCAGAGTAGGGT GCCTGAGGGTGGGACATATGCACTGTTCTGCTAGTTACGGCATTCACACTTTAGGTAACATTTTTTTTCCCCTTCAGATCCTTCTGCACC AACTCCAACTTCCCCTCCCAGGATCTAAGCCACAGTGGGGACTGGAGCCTCGTTTTCCCCCTAGGCAGACCTAAATCAAGCAGCTTACCA CAATAGTGCATGCTGAGTAGATTAGTTCCAAGGAAGGGAGACTGGAATGCTGGTGTCAAGGAAAAGCCTCCCTCATCATCTAGTCTAAGA CCATAACGGGCAGAAGCATAAGAGGTTCCAGGGCCATAGGAGAATGAGAAGTAGGGCACATATAGGGAGGAAAGAAAAGTGAAGAAGGGG GAAATCTCTGAATTTTTTTACTGCTGGGAAAAGTGTACTACATGAAGGATGCTTGGGGCTTTGCTAACCTGCTCACCGCTAACCCTCCAA GTCTAACCATCCCCAGAGGCCACACAAACCAAGTGACTCCTGTAGTTCCCATTTGCCCCACTATGGAGTCAGGGCAAAAGTGGAATAGCC |
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FusionGenePPI for ATF6_PCP4L1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ATF6 | GTF2I, YY1, ATF6, ATF6B, NFYA, NFYC, SRF, CREB1, SREBF2, WFS1, SYVN1, UBC, SP1, APP, XBP1, BPGM, DDC, NNMT, TNFRSF1A, FBXO6, MAPK14, HLA-E, ERLEC1, APOD, SH3TC1, RFWD2, STK40, ACLY, PARG, PCDH20, CDH5, PCDHAC1, PCDHB11, GABRD, CLEC3A, CLEC2D, CD300E, OS9, MGAT4C, PCDHB16, LRRN2, TRIM25 | PCP4L1 | IQCB1 |
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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 |
Hgene | ATF6 | chr1:161772062 | chr1:161253458 | ENST00000367942 | + | 7 | 16 | 468_589 | 303 | 671 | THBS4 |
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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 ATF6_PCP4L1 |
![]() (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 ATF6_PCP4L1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATF6 | C0003949 | Asbestosis | 1 | CTD_human |
Hgene | ATF6 | C0009398 | Color vision defect | 1 | CTD_human |
Hgene | ATF6 | C0022336 | Creutzfeldt-Jakob disease | 1 | CTD_human |
Hgene | ATF6 | C0035334 | Retinitis Pigmentosa | 1 | CTD_human |
Hgene | ATF6 | C0036457 | Scrapie | 1 | CTD_human |
Hgene | ATF6 | C0085636 | Photophobia | 1 | CTD_human;HPO |
Hgene | ATF6 | C0700501 | Congenital nystagmus | 1 | CTD_human |
Hgene | ATF6 | C4225297 | ACHROMATOPSIA 7 | 1 | UNIPROT |