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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: 30538

FusionGeneSummary for RASAL2_SARDH

check button Fusion gene summary
Fusion gene informationFusion gene name: RASAL2_SARDH
Fusion gene ID: 30538
HgeneTgene
Gene symbol

RASAL2

SARDH

Gene ID

9462

1757

Gene nameRAS protein activator like 2sarcosine dehydrogenase
SynonymsNGAPBPR-2|DMGDHL1|SAR|SARD|SDH
Cytomap

1q25.2

9q34.2

Type of geneprotein-codingprotein-coding
Descriptionras GTPase-activating protein nGAPRASAL2/ACVR1 fusionRas protein activator like 1sarcosine dehydrogenase, mitochondrialdimethylglycine dehydrogenase-like 1
Modification date2018052220180523
UniProtAcc

Q9UJF2

Q9UL12

Ensembl transtripts involved in fusion geneENST00000448150, ENST00000367649, 
ENST00000465723, ENST00000462775, 
ENST00000371872, ENST00000439388, 
ENST00000422262, ENST00000371868, 
ENST00000469828, ENST00000371867, 
ENST00000298628, 
Fusion gene scores* DoF score12 X 8 X 8=7683 X 3 X 2=18
# samples 133
** MAII scorelog2(13/768*10)=-2.5625946876927
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RASAL2 [Title/Abstract] AND SARDH [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

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
ChiTaRS3.1DA839467RASAL2chr1

178443270

+SARDHchr9

136567650

-
* 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
3UTR-intronENST00000448150ENST00000371872RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000448150ENST00000439388RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000448150ENST00000422262RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000448150ENST00000371868RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000448150ENST00000469828RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000448150ENST00000371867RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000448150ENST00000298628RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000371872RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000439388RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000422262RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000371868RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000469828RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000371867RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000367649ENST00000298628RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000371872RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000439388RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000422262RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000371868RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000469828RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000371867RASAL2chr1

178443270

+SARDHchr9

136567650

-
intron-intronENST00000465723ENST00000298628RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000371872RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000439388RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000422262RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000371868RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000469828RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000371867RASAL2chr1

178443270

+SARDHchr9

136567650

-
3UTR-intronENST00000462775ENST00000298628RASAL2chr1

178443270

+SARDHchr9

136567650

-

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FusionProtFeatures for RASAL2_SARDH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RASAL2

Q9UJF2

SARDH

Q9UL12

Inhibitory regulator of the Ras-cyclic AMP pathway.

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 RASAL2_SARDH


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 RASAL2_SARDH


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 RASAL2_SARDH


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 RASAL2_SARDH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSARDHC0242184Hypoxia1CTD_human
TgeneSARDHC0268563Sarcosinemia1CTD_human;ORPHANET;UNIPROT