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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: 13300

FusionGeneSummary for FDXACB1_CRYAB

check button Fusion gene summary
Fusion gene informationFusion gene name: FDXACB1_CRYAB
Fusion gene ID: 13300
HgeneTgene
Gene symbol

FDXACB1

CRYAB

Gene ID

91893

1410

Gene nameferredoxin-fold anticodon binding domain containing 1crystallin alpha B
SynonymshCG_2033039CMD1II|CRYA2|CTPP2|CTRCT16|HEL-S-101|HSPB5|MFM2
Cytomap

11q23.1

11q23.1

Type of geneprotein-codingprotein-coding
Descriptionferredoxin-fold anticodon-binding domain-containing protein 1FDX-ACDB domain-containing protein 1hypothetical protein BC006136alpha-crystallin B chainepididymis secretory protein Li 101heat shock protein beta-5heat-shock 20 kD like-proteinrenal carcinoma antigen NY-REN-27rosenthal fiber component
Modification date2018052320180519
UniProtAcc

Q9BRP7

P02511

Ensembl transtripts involved in fusion geneENST00000260257, ENST00000542429, 
ENST00000526180, ENST00000533280, 
ENST00000525823, ENST00000533475, 
ENST00000527950, ENST00000227251, 
ENST00000531198, ENST00000533971, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 2=32
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FDXACB1 [Title/Abstract] AND CRYAB [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
TgeneCRYAB

GO:0032387

negative regulation of intracellular transport

14752512

TgeneCRYAB

GO:0032463

negative regulation of protein homooligomerization

23106396

TgeneCRYAB

GO:0043066

negative regulation of apoptotic process

14752512

TgeneCRYAB

GO:0051260

protein homooligomerization

16303126

TgeneCRYAB

GO:1905907

negative regulation of amyloid fibril formation

23106396


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
TCGARVOVTCGA-61-1740-01AFDXACB1chr11

111749685

-CRYABchr11

111782646

-
* 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-5UTRENST00000260257ENST00000526180FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-intronENST00000260257ENST00000533280FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-intronENST00000260257ENST00000525823FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-5UTRENST00000260257ENST00000533475FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-5UTRENST00000260257ENST00000527950FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-intronENST00000260257ENST00000227251FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-5UTRENST00000260257ENST00000531198FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5CDS-intronENST00000260257ENST00000533971FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-5UTRENST00000542429ENST00000526180FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-intronENST00000542429ENST00000533280FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-intronENST00000542429ENST00000525823FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-5UTRENST00000542429ENST00000533475FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-5UTRENST00000542429ENST00000527950FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-intronENST00000542429ENST00000227251FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-5UTRENST00000542429ENST00000531198FDXACB1chr11

111749685

-CRYABchr11

111782646

-
5UTR-intronENST00000542429ENST00000533971FDXACB1chr11

111749685

-CRYABchr11

111782646

-

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FusionProtFeatures for FDXACB1_CRYAB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FDXACB1

Q9BRP7

CRYAB

P02511

May contribute to the transparency and refractive indexof the lens. Has chaperone-like activity, preventing aggregationof various proteins under a wide range of stress conditions.

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 FDXACB1_CRYAB


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 FDXACB1_CRYAB


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
FDXACB1RBMXL2, TRAF2, THUMPD1, HERC4, RBMXL1CRYABBMPR2, CS, HSPB1, CRYAB, HSPB2, CRYAA, CRYBB2, CRYGC, PSMA3, HDAC1, PSMD4, CCND1, ADAM2, PRKAG3, TP53, HSPA4, APP, CRYGD, LALBA, MDH2, BCL2, FCGR2A, CD40LG, ALB, AVP, BAG3, HSPB8, LBH, SNCA, VEGFA, TTN, FGF2, NGF, INS, CTNNB1, CDH16, DES, GFAP, CASP3, BCL2L1, BAX, CRYBA1, MIP, UBE2D1, CDH1, CCL22, SMAD4, TRIM33, ASB5, CASP6, CASP7, CASP8, CASP9, CASP12, XIAP, SOD1, APOC2, B2M, HBA1, DDX20, CRADD, PIDD1, CASP2, ACOT7, TNPO2, MRPL11, TRAPPC6A, KRTAP8-1, KRTAP19-5, NYNRIN, SEH1L, GEMIN4, IQGAP3, CDC23, HNRNPUL2, GOPC, NUDT16L1, MAP1B, NEFL, TRAPPC2, PRELID1, SMCR8, FBXO21, CCDC85C, VPS33A, LENG8, CC2D1A, TRAPPC9, CCDC85B, FAM83D, RBM24, TMEM109, SORD, FOXD4, SCN5A, NEDD4L, LYZ, GDF5, PI4KA, MAS1, GMCL1, OAZ3, FCF1, TFG, GPBP1, G3BP1


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 FDXACB1_CRYAB


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

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RelatedDiseases for FDXACB1_CRYAB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCRYABC1837317Alpha-B Crystallinopathy3CTD_human;ORPHANET;UNIPROT
TgeneCRYABC3554649CARDIOMYOPATHY, DILATED, 1II2UNIPROT
TgeneCRYABC0007134Renal Cell Carcinoma1CTD_human
TgeneCRYABC0007137Squamous cell carcinoma1CTD_human
TgeneCRYABC0009375Colonic Neoplasms1CTD_human
TgeneCRYABC0014859Esophageal Neoplasms1CTD_human
TgeneCRYABC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCRYABC0026640Mouth Neoplasms1CTD_human
TgeneCRYABC0033578Prostatic Neoplasms1CTD_human
TgeneCRYABC0040411Tongue Neoplasms1CTD_human
TgeneCRYABC0086543Cataract1CTD_human;HPO
TgeneCRYABC0524851Neurodegenerative Disorders1CTD_human