|
Fusion gene ID: 397 |
FusionGeneSummary for ACLY_NEUROD2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ACLY_NEUROD2 | Fusion gene ID: 397 | Hgene | Tgene | Gene symbol | ACLY | NEUROD2 | Gene ID | 47 | 4761 |
Gene name | ATP citrate lyase | neuronal differentiation 2 | |
Synonyms | ACL|ATPCL|CLATP | NDRF|bHLHa1 | |
Cytomap | 17q21.2 | 17q12 | |
Type of gene | protein-coding | protein-coding | |
Description | ATP-citrate synthaseATP-citrate (pro-S-)-lyasecitrate cleavage enzyme | neurogenic differentiation factor 2class A basic helix-loop-helix protein 1neuroD-related factorneurogenic basic-helix-loop-helix proteinneurogenic differentiation 2 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P53396 | Q15784 | |
Ensembl transtripts involved in fusion gene | ENST00000352035, ENST00000590151, ENST00000353196, ENST00000537919, ENST00000393896, ENST00000588779, | ENST00000302584, | |
Fusion gene scores | * DoF score | 4 X 5 X 3=60 | 6 X 2 X 3=36 |
# samples | 5 | 6 | |
** MAII score | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ACLY [Title/Abstract] AND NEUROD2 [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 | ACLY | GO:0006085 | acetyl-CoA biosynthetic process | 1371749 |
Hgene | ACLY | GO:0006101 | citrate metabolic process | 1371749 |
Hgene | ACLY | GO:0006107 | oxaloacetate metabolic process | 1371749 |
Hgene | ACLY | GO:0008610 | lipid biosynthetic process | 23932781 |
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 | ESCA | TCGA-VR-AA4D-01A | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
* 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 |
5CDS-5UTR | ENST00000352035 | ENST00000302584 | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
5CDS-5UTR | ENST00000590151 | ENST00000302584 | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
5CDS-5UTR | ENST00000353196 | ENST00000302584 | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
5CDS-5UTR | ENST00000537919 | ENST00000302584 | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
5CDS-5UTR | ENST00000393896 | ENST00000302584 | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
intron-5UTR | ENST00000588779 | ENST00000302584 | ACLY | chr17 | 40039375 | - | NEUROD2 | chr17 | 37762857 | - |
Top |
FusionProtFeatures for ACLY_NEUROD2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ACLY | NEUROD2 |
ATP-citrate synthase is the primary enzyme responsiblefor the synthesis of cytosolic acetyl-CoA in many tissues. Has acentral role in de novo lipid synthesis. In nervous tissue it maybe involved in the biosynthesis of acetylcholine.{ECO:0000269|PubMed:23932781}. | Transcriptional regulator implicated in neuronaldetermination. Mediates calcium-dependent transcription activationby binding to E box-containing promoter. Critical factor essentialfor the repression of the genetic program for neuronaldifferentiation; prevents the formation of synaptic vesicleclustering at active zone to the presynaptic membrane inpostmitotic neurons. Induces transcription of ZEB1, which in turnrepresses neuronal differentiation by down-regulating RESTexpression. Plays a role in the establishment and maturation ofthalamocortical connections; involved in the segregation ofthalamic afferents into distinct barrel domains within layer VI ofthe somatosensory cortex. Involved in the development of thecerebellar and hippocampal granular neurons, neurons in thebasolateral nucleus of amygdala and the hypothalamic-pituitaryaxis. Associates with chromatin to the DPYSL3 E box-containingpromoter (By similarity). {ECO:0000250}. |
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 ACLY_NEUROD2 |
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 ACLY_NEUROD2 |
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 |
ACLY | TFE3, IKBKE, PRKAB1, GSK3B, NME2, HGS, TERF1, TERF2, HDAC5, SIRT7, ISG15, CUL3, CUL2, CAND1, SHC1, APP, UBC, FN1, CDKN2A, BAG3, KPNA2, KPNA4, PPP6C, PRMT1, SRRT, MAGED2, MCM2, MCM6, NCL, WWOX, ASB15, TRIM25, STAU1, HUWE1, UBR4, KAT2B, SIRT2, CUL7, OBSL1, CCDC8, SIRT6, CTH, EEF1D, PYGB, CS, HNRNPK, NAPRT, NUP210L, RPE, SDHA, SDHB, STIP1, NTRK1, AHSA1, NUP107, ATF6, CRY1, CRY2, FBXW7, USP13, DERL1, ZNF746, DDIAS, DUSP13, DNM1L, BRCA1 | NEUROD2 | PKN1, TK1 |
- 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 ACLY_NEUROD2 |
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 ACLY_NEUROD2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACLY | C0018801 | Heart failure | 1 | CTD_human |
Hgene | ACLY | C0028754 | Obesity | 1 | CTD_human |
Hgene | ACLY | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | NEUROD2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |