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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1471

FusionGeneSummary for ALDH2_ACTB

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH2_ACTB
Fusion gene ID: 1471
HgeneTgene
Gene symbol

ALDH2

ACTB

Gene ID

217

60

Gene namealdehyde dehydrogenase 2 family memberactin beta
SynonymsALDH-E2|ALDHI|ALDMBRWS1|PS1TP5BP1
Cytomap

12q24.12

7p22.1

Type of geneprotein-codingprotein-coding
Descriptionaldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)liver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin
Modification date2018052720180522
UniProtAcc

P05091

P60709

Ensembl transtripts involved in fusion geneENST00000416293, ENST00000261733, 
ENST00000464611, ENST00000331789, 
Fusion gene scores* DoF score7 X 6 X 5=21010 X 10 X 3=300
# samples 711
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/300*10)=-1.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH2 [Title/Abstract] AND ACTB [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
TgeneACTB

GO:0098974

postsynaptic actin cytoskeleton organization

18341992


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
TCGALDACCTCGA-OR-A5KY-01AALDH2chr12

112236046

+ACTBchr7

5569294

-
* 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
5CDS-intronENST00000416293ENST00000464611ALDH2chr12

112236046

+ACTBchr7

5569294

-
5CDS-5UTRENST00000416293ENST00000331789ALDH2chr12

112236046

+ACTBchr7

5569294

-
5CDS-intronENST00000261733ENST00000464611ALDH2chr12

112236046

+ACTBchr7

5569294

-
5CDS-5UTRENST00000261733ENST00000331789ALDH2chr12

112236046

+ACTBchr7

5569294

-

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FusionProtFeatures for ALDH2_ACTB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALDH2

P05091

ACTB

P60709


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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ALDH2_ACTB


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ALDH2_ACTB


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
ALDH2UNC119, SLC35F6, IGSF21, CRMP1, C14orf1, EIF6, HSPE1, HSPD1, UBA5, ICT1, CUL3, APP, ALDH1A1, RPL13A, SERPINB5, IGKC, ALDH1A2, ALDH6A1, FGB, SERPINA1, TF, FGG, IGHG1, IGHG3, IGHG4, APOA1, FGA, CALML5, BTRC, LDHA, LDHAL6A, LDHB, RPE, SOD2, ESD, PDCD6IP, PGM1, UQCRC2, NTRK1, HSPB2, IGHA1, RPL11, ARID1A, XRCC3, ATAD5, APC, PHB2, RAD23B, SIRT3ACTBCFL1, CFL2, ACTB, DSTN, ACTG1, NCALD, RAB8B, MYC, SMARCA4, SMARCE1, SMARCC2, NCF1, RAC1, RAC2, PFN1, PCYT1B, CCT5, CCT2, SSH1, SSH2, SPTBN2, RUVBL2, MEPCE, RUVBL1, PSTPIP1, INO80, BCL7C, MGMT, CENPA, CARM1, EMD, MORF4L1, MORF4L2, MRGBP, ESR1, ACTR3, ACTR2, DMAP1, KAT5, CBL, UCHL5, SMN1, AGO4, SMAD3, TJP1, YWHAQ, PSMA3, BCL2L1, H2AFX, AIMP2, TK1, CDKN1A, FABP4, RCC1, TTR, ANXA7, HMMR, CTGF, POLR2A, TAF11, PCK1, VHL, PROM1, ATF3, HNRNPU, ELAVL1, ARRB2, ANGPTL4, DHX9, ERG, FBXO25, TINF2, ACD, POT1, PPP1CC, PPP1CA, CUL3, CUL5, CUL2, CDK2, CUL1, COPS5, COPS6, CAND1, NEDD8, OSTF1, SHBG, MYOC, MKL1, LRRK2, SLC6A2, SNCA, UBASH3B, GRB2, PIK3R2, SHC1, CRK, EPS15, AP2M1, CYBB, IQGAP1, NSMAF, AKT1, ABLIM1, FPR1, A2M, MYH11, CORO1C, FHOD1, MAGOH, EIF4A3, HNF1A, SMURF1, VCP, TRAF3IP1, ERBB2, POLR1B, ESR2, FN1, VCAM1, HCK, DAB2, IQCB1, OTUB1, SMAD9, UBL4A, ITGA4, SVIL, PHB, BBS4, MAP1A, MAP2, NOS3, SLC12A3, DTNA, PAN2, PLG, ICAM1, CD81, ICAM3, MAPK7, AR, MYH9, ACE, RAD52, ENC1, CAV1, EP300, CSNK2B, KHDRBS1, PROSER2, RPL10A, COTL1, HNRNPD, PARK2, CDKN2A, RPA1, RPA2, RPA3, ASB9, ASB12, ZBTB1, HSPA5, ERRFI1, LGR4, CORO7, IVNS1ABP, STAU1, AMOT, HAUS1, CEP250, LGALS3BP, NEDD1, TP53, TUBG1, TUBGCP2, TUBGCP3, FUS, PA2G4, HDAC6, EHHADH, CAP2, WDYHV1, ALK, KAT2B, MDM2, ADA, MAGEA10, TPST1, LMX1B, USP46, DUSP19, HOXB5, HOMER1, PRSS23, HSD17B3, PNMA1, SLC30A6, HNRNPA1, SAMHD1, UNK, CORO1B, CAD, EEF1A1, EEF1A2, YARS, SCARNA22, HSPB2, TCP1, SRPK2, FLNA, PPP1CB, RAB2A, SYNPO, LIMA1, MYO18A, TRIM15, UBE3A, SKI, SNW1, CDC5L, ERBB3, EGFR, EPC1, MBTD1, PTPN1, GC, PHACTR2, PFN2, THRB, TMOD3, REG3A, DBN1, NEXN, TMCC2, COBL, CAP1, TWF2, RNASE3, SFXN5, NPB, SLC25A11, RPL15, PLEKHG6, PPIAL4G, CDK10, SCGB1A1, POLH, RIC3, NUS1, ACP1, IL1RL2, DUSP10, NXF5, THAP4, ZNF695, HTR1E, LSP1, RPS27, MEIS2, FBXL5, DEFA6, CLEC2D, UQCRB, TPGS2, CTNNB1, MTNR1A, CYLD, CCND2, FAM107A, HEY1, TES


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


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


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RelatedDrugs for ALDH2_ACTB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH2P05091DB00822DisulfiramAldehyde dehydrogenase, mitochondrialsmall moleculeapproved

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RelatedDiseases for ALDH2_ACTB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
HgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
HgeneALDH2C0085762Alcohol abuse5PSYGENET
HgeneALDH2C0393756Hangover from alcohol4PSYGENET
HgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
HgeneALDH2C0004096Asthma2CTD_human
HgeneALDH2C0005586Bipolar Disorder2PSYGENET
HgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneALDH2C0009404Colorectal Neoplasms1CTD_human
HgeneALDH2C0014859Esophageal Neoplasms1CTD_human
HgeneALDH2C0016382Flushing1CTD_human
HgeneALDH2C0021364Male infertility1CTD_human
HgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH2C0028796Dermatitis, Occupational1CTD_human
HgeneALDH2C0032927Precancerous Conditions1CTD_human
HgeneALDH2C0042373Vascular Diseases1CTD_human
HgeneALDH2C0242973Ventricular Dysfunction1CTD_human
HgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
HgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
HgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
HgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human
TgeneACTBC2239176Liver carcinoma2CTD_human
TgeneACTBC0005586Bipolar Disorder1PSYGENET
TgeneACTBC0009363Congenital ocular coloboma (disorder)1CTD_human
TgeneACTBC0013393Dysostoses1CTD_human
TgeneACTBC0013421Dystonia1CTD_human
TgeneACTBC0014859Esophageal Neoplasms1CTD_human
TgeneACTBC0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
TgeneACTBC0024121Lung Neoplasms1CTD_human
TgeneACTBC0024667Animal Mammary Neoplasms1CTD_human
TgeneACTBC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneACTBC0027626Neoplasm Invasiveness1CTD_human
TgeneACTBC0029408Degenerative polyarthritis1CTD_human
TgeneACTBC0036341Schizophrenia1PSYGENET
TgeneACTBC0151744Myocardial Ischemia1CTD_human
TgeneACTBC0242184Hypoxia1CTD_human
TgeneACTBC0376634Craniofacial Abnormalities1CTD_human
TgeneACTBC0497552Congenital neurologic anomalies1CTD_human
TgeneACTBC1846331Juvenile-onset dystonia1CTD_human;ORPHANET;UNIPROT
TgeneACTBC1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET;UNIPROT