FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 3133

FusionGeneSummary for ATF6_PCP4L1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATF6_PCP4L1
Fusion gene ID: 3133
HgeneTgene
Gene symbol

ATF6

PCP4L1

Gene ID

22926

654790

Gene nameactivating transcription factor 6Purkinje cell protein 4 like 1
SynonymsACHM7|ATF6AIQM1
Cytomap

1q23.3

1q23.3

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-dependent transcription factor ATF-6 alphacAMP-dependent transcription factor ATF-6 alphaPurkinje cell protein 4-like protein 1PCP4-like protein 1
Modification date2018052220180519
UniProtAcc

P18850

A6NKN8

Ensembl transtripts involved in fusion geneENST00000367942, ENST00000476437, 
ENST00000504449, 
Fusion gene scores* DoF score8 X 7 X 5=2802 X 1 X 2=4
# samples 72
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneATF6

GO:0043065

positive regulation of apoptotic process

14752510

HgeneATF6

GO:0045944

positive regulation of transcription by RNA polymerase II

14973138

HgeneATF6

GO:1903893

positive regulation of ATF6-mediated unfolded protein response

9837962

HgeneATF6

GO:1990440

positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress

11163209|11256944|16469704


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-44-7660-01AATF6chr1

161772062

+PCP4L1chr1

161253458

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000367942ENST00000504449ATF6chr1

161772062

+PCP4L1chr1

161253458

+
intron-3CDSENST00000476437ENST00000504449ATF6chr1

161772062

+PCP4L1chr1

161253458

+

Top

FusionProtFeatures for ATF6_PCP4L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATF6

P18850

PCP4L1

A6NKN8

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}.

check buttonRetention 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

download page

.

* 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.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716124_127303671Compositional biasNote=Poly-Ser
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+7161_150303671RegionNote=Transcription activation
TgenePCP4L1chr1:161772062chr1:161253458ENST00000504449+0345_68369DomainNote=IQ

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716325_328303671Compositional biasNote=Poly-Lys
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716463_466303671Compositional biasNote=Poly-Pro
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716306_369303671DomainbZIP
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716308_339303671RegionNote=Basic motif
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716348_355303671RegionNote=Leucine-zipper
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+7161_377303671Topological domainCytoplasmic
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716399_670303671Topological domainLumenal
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716378_398303671TransmembraneHelical%3B Signal-anchor for type II membrane protein


Top

FusionGeneSequence for ATF6_PCP4L1


check button 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.
>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


Top

FusionGenePPI for ATF6_PCP4L1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ATF6GTF2I, 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, TRIM25PCP4L1IQCB1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneATF6chr1:161772062chr1:161253458ENST00000367942+716468_589303671THBS4


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for ATF6_PCP4L1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ATF6_PCP4L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATF6C0003949Asbestosis1CTD_human
HgeneATF6C0009398Color vision defect1CTD_human
HgeneATF6C0022336Creutzfeldt-Jakob disease1CTD_human
HgeneATF6C0035334Retinitis Pigmentosa1CTD_human
HgeneATF6C0036457Scrapie1CTD_human
HgeneATF6C0085636Photophobia1CTD_human;HPO
HgeneATF6C0700501Congenital nystagmus1CTD_human
HgeneATF6C4225297ACHROMATOPSIA 71UNIPROT