![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 1505 |
FusionGeneSummary for ALDOA_COL1A1 |
![]() |
Fusion gene information | Fusion gene name: ALDOA_COL1A1 | Fusion gene ID: 1505 | Hgene | Tgene | Gene symbol | ALDOA | COL1A1 | Gene ID | 226 | 1277 |
Gene name | aldolase, fructose-bisphosphate A | collagen type I alpha 1 chain | |
Synonyms | ALDA|GSD12|HEL-S-87p | EDSARTH1|EDSC|OI1|OI2|OI3|OI4 | |
Cytomap | 16p11.2 | 17q21.33 | |
Type of gene | protein-coding | protein-coding | |
Description | fructose-bisphosphate aldolase Aaldolase A, fructose-bisphosphateepididymis secretory sperm binding protein Li 87pfructose-1,6-bisphosphate triosephosphate-lyaselung cancer antigen NY-LU-1muscle-type aldolase | collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro | |
Modification date | 20180522 | 20180527 | |
UniProtAcc | P04075 | P02452 | |
Ensembl transtripts involved in fusion gene | ENST00000338110, ENST00000395248, ENST00000575627, ENST00000566897, ENST00000569545, ENST00000563060, ENST00000412304, ENST00000564546, ENST00000564595, ENST00000569798, ENST00000395240, | ENST00000225964, | |
Fusion gene scores | * DoF score | 17 X 7 X 10=1190 | 25 X 35 X 6=5250 |
# samples | 20 | 39 | |
** MAII score | log2(20/1190*10)=-2.57288966842058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(39/5250*10)=-3.75077139369124 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ALDOA [Title/Abstract] AND COL1A1 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ALDOA | GO:0008360 | regulation of cell shape | 9244396 |
Hgene | ALDOA | GO:0030388 | fructose 1,6-bisphosphate metabolic process | 9244396|14766013 |
Tgene | COL1A1 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 20018240 |
Tgene | COL1A1 | GO:0030335 | positive regulation of cell migration | 20018240 |
Tgene | COL1A1 | GO:0034504 | protein localization to nucleus | 20018240 |
Tgene | COL1A1 | GO:0045893 | positive regulation of transcription, DNA-templated | 20018240 |
Tgene | COL1A1 | GO:0090263 | positive regulation of canonical Wnt signaling pathway | 20018240 |
![]() (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 | BRCA | TCGA-AC-A3W7-01A | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
TCGA | LD | BRCA | TCGA-E2-A15E-01A | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
* 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 |
intron-3CDS | ENST00000338110 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
intron-3CDS | ENST00000395248 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
intron-3CDS | ENST00000575627 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
intron-3CDS | ENST00000566897 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
5UTR-3CDS | ENST00000569545 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
intron-3CDS | ENST00000563060 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
intron-3CDS | ENST00000412304 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
5UTR-3CDS | ENST00000564546 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
5UTR-3CDS | ENST00000564595 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
5UTR-3CDS | ENST00000569798 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
5UTR-3CDS | ENST00000395240 | ENST00000225964 | ALDOA | chr16 | 30077248 | + | COL1A1 | chr17 | 48272691 | - |
Frame-shift | ENST00000338110 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000395248 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
intron-3CDS | ENST00000575627 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000566897 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000569545 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000563060 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000412304 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000564546 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000564595 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000569798 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Frame-shift | ENST00000395240 | ENST00000225964 | ALDOA | chr16 | 30080021 | + | COL1A1 | chr17 | 48271808 | - |
Top |
FusionProtFeatures for ALDOA_COL1A1 |
![]() |
Hgene | Tgene |
ALDOA | COL1A1 |
Plays a key role in glycolysis and gluconeogenesis. Inaddition, may also function as scaffolding protein (Bysimilarity). {ECO:0000250}. |
![]() * 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 ALDOA_COL1A1 |
![]() (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 ALDOA_COL1A1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ALDOA | XRN1, FANCA, ATP6V1E1, PLD2, USP15, OSBPL10, EGFR, TRIM63, PSMD4, H2AFX, CACNA1A, HDAC5, PCNA, PSMA3, MYC, ISG15, TERF1, CUL3, CUL4B, CUL2, CDK2, MYOC, AKT1, PGK1, ALDOC, HSPD1, LGALS1, LIG4, HSP90AA1, HSP90AB1, VCAM1, FN1, ATF2, IQCB1, MLH1, VCPKMT, ITGA4, RAD52, ALDOB, ALDOA, BCAT2, GALNT6, PIAS4, CS, TNPO3, ADRB2, HUWE1, FUS, IFNA4, SUZ12, HNRNPA1, ACAA2, ACTN4, ACO2, ADI1, ARHGDIA, ASS1, CFL1, COX4I1, ECHS1, FKBP2, GPD1L, GPX4, HSD17B10, IMPA2, ISYNA1, LMAN1, MAP2K7, MYH7B, PKM, SUMO2, TAGLN, TAGLN2, TKT, TRAP1, ATP5J, CKB, CKMT1B, CKMT1A, CKMT2, DUT, ENO1, FABP5, FH, FKBP7, GAPDH, GLO1, HSPE1, KCNAB2, LDHA, LTA4H, NDUFS4, PGAM2, PREP, SOD2, SUMO4, TALDO1, UMPS, NTRK1, HSPB2, SRPK2, AHSA1, CDK2AP1, NCSTN, NCAPH, VPS18, DRC1, MCM2, CDC73, CDH1, CARM1, DNM1L, SOAT1, SOD1, TRIM25, BRCA1 | COL1A1 | IGFBP3, TXN, ITGA2, ITGB1, NID1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ALDOA_COL1A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | ALDOA | P04075 | DB01593 | Zinc | Fructose-bisphosphate aldolase A | small molecule | approved|investigational |
Hgene | ALDOA | P04075 | DB11638 | Artenimol | Fructose-bisphosphate aldolase A | small molecule | approved|investigational |
Tgene | COL1A1 | P02452 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(I) chain | biotech | approved|investigational |
Tgene | COL1A1 | P02452 | DB13133 | Von Willebrand Factor Human | Collagen alpha-1(I) chain | biotech | approved|investigational |
Top |
RelatedDiseases for ALDOA_COL1A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ALDOA | C0272066 | Glycogen Storage Disease XII | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | ALDOA | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | ALDOA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
Hgene | ALDOA | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | ALDOA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Hgene | ALDOA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | COL1A1 | C0268358 | Osteogenesis imperfecta, dominant perinatal lethal | 39 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A1 | C0268362 | Osteogenesis imperfecta type III (disorder) | 18 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A1 | C0268363 | Osteogenesis imperfecta type IV (disorder) | 14 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A1 | C0023931 | Lobstein's Disease | 12 | ORPHANET;UNIPROT |
Tgene | COL1A1 | C0023890 | Liver Cirrhosis | 4 | CTD_human |
Tgene | COL1A1 | C0023893 | Liver Cirrhosis, Experimental | 3 | CTD_human |
Tgene | COL1A1 | C4225429 | Ehlers-Danlos syndrome classic type | 2 | UNIPROT |
Tgene | COL1A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Tgene | COL1A1 | C0002949 | Aneurysm, Dissecting | 1 | CTD_human |
Tgene | COL1A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Tgene | COL1A1 | C0004364 | Autoimmune Diseases | 1 | CTD_human |
Tgene | COL1A1 | C0006663 | Calcinosis | 1 | CTD_human |
Tgene | COL1A1 | C0008311 | Cholangitis | 1 | CTD_human |
Tgene | COL1A1 | C0016059 | Fibrosis | 1 | CTD_human |
Tgene | COL1A1 | C0018824 | Heart valve disease | 1 | CTD_human |
Tgene | COL1A1 | C0020497 | Cortical Congenital Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL1A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | COL1A1 | C0022548 | Keloid | 1 | CTD_human |
Tgene | COL1A1 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Tgene | COL1A1 | C0029172 | Oral Submucous Fibrosis | 1 | CTD_human |
Tgene | COL1A1 | C0029434 | Osteogenesis Imperfecta | 1 | CTD_human |
Tgene | COL1A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Tgene | COL1A1 | C1619692 | Nephrogenic Fibrosing Dermopathy | 1 | CTD_human |