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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: 1455

FusionGeneSummary for ALDH18A1_CALCOCO2

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH18A1_CALCOCO2
Fusion gene ID: 1455
HgeneTgene
Gene symbol

ALDH18A1

CALCOCO2

Gene ID

5832

10241

Gene namealdehyde dehydrogenase 18 family member A1calcium binding and coiled-coil domain 2
SynonymsADCL3|ARCL3A|GSAS|P5CS|PYCS|SPG9|SPG9A|SPG9BNDP52
Cytomap

10q24.1

17q21.32

Type of geneprotein-codingprotein-coding
Descriptiondelta-1-pyrroline-5-carboxylate synthaseSpastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux)aldehyde dehydrogenase family 18 member A1delta-1-pyrroline-5-carboxylate synthetasedelta1-pyrroline-5-carboxlate calcium-binding and coiled-coil domain-containing protein 2antigen nuclear dot 52 kDa proteinnuclear domain 10 protein 52nuclear domain 10 protein NDP52nuclear dot protein 52
Modification date2018052320180522
UniProtAcc

P54886

Q13137

Ensembl transtripts involved in fusion geneENST00000371224, ENST00000371221, 
ENST00000483788, 		ENST00000258947, 
ENST00000509507, ENST00000448105, 
ENST00000416445, ENST00000508679, 
ENST00000510997, 
Fusion gene scores* DoF score4 X 4 X 2=326 X 5 X 3=90
# samples 46
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH18A1 [Title/Abstract] AND CALCOCO2 [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
TgeneCALCOCO2

GO:0034341

response to interferon-gamma

9230084


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
ChiTaRS3.1EY198528ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
* 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
intron-3CDSENST00000371224ENST00000258947ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371224ENST00000509507ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371224ENST00000448105ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371224ENST00000416445ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371224ENST00000508679ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-intronENST00000371224ENST00000510997ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371221ENST00000258947ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371221ENST00000509507ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371221ENST00000448105ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371221ENST00000416445ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000371221ENST00000508679ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-intronENST00000371221ENST00000510997ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000483788ENST00000258947ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000483788ENST00000509507ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000483788ENST00000448105ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000483788ENST00000416445ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-3CDSENST00000483788ENST00000508679ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+
intron-intronENST00000483788ENST00000510997ALDH18A1chr10

97366159

-CALCOCO2chr17

46937745

+

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FusionProtFeatures for ALDH18A1_CALCOCO2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALDH18A1

P54886

CALCOCO2

Q13137


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 ALDH18A1_CALCOCO2


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 ALDH18A1_CALCOCO2


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


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 ALDH18A1_CALCOCO2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH18A1P54886DB00142Glutamic AcidDelta-1-pyrroline-5-carboxylate synthasesmall moleculeapproved|nutraceutical

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RelatedDiseases for ALDH18A1_CALCOCO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH18A1C0268354De Barsy syndrome6ORPHANET;UNIPROT
HgeneALDH18A1C1832669SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)2ORPHANET;UNIPROT
HgeneALDH18A1C4225268CUTIS LAXA, AUTOSOMAL DOMINANT 31UNIPROT
HgeneALDH18A1C4225272SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE1ORPHANET;UNIPROT