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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: 35662

FusionGeneSummary for SPG20_SOHLH2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPG20_SOHLH2
Fusion gene ID: 35662
HgeneTgene
Gene symbol

SPG20

SOHLH2

Gene ID

54937

Gene namespermatogenesis and oogenesis specific basic helix-loop-helix 2
SynonymsSOSF2|SPATA28|TEB1|bHLHe81
Cytomap

13q13.3

Type of geneprotein-coding
Descriptionspermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2spermatogenesis associated 28testicular secretory protein Li 50testicular secretory protein Li 51
Modification date20180523
UniProtAcc

Q9NX45

Ensembl transtripts involved in fusion geneENST00000438666, ENST00000451493, 
ENST00000355182, ENST00000494062, 
ENST00000495510, 
ENST00000554962, 
ENST00000379881, ENST00000317764, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: SPG20 [Title/Abstract] AND SOHLH2 [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
TCGALDOVTCGA-29-1785-01ASPG20chr13

36920362

-SOHLH2chr13

36776230

-
* 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
5UTR-3CDSENST00000438666ENST00000554962SPG20chr13

36920362

-SOHLH2chr13

36776230

-
5UTR-3CDSENST00000438666ENST00000379881SPG20chr13

36920362

-SOHLH2chr13

36776230

-
5UTR-3CDSENST00000438666ENST00000317764SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000451493ENST00000554962SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000451493ENST00000379881SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000451493ENST00000317764SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000355182ENST00000554962SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000355182ENST00000379881SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000355182ENST00000317764SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000494062ENST00000554962SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000494062ENST00000379881SPG20chr13

36920362

-SOHLH2chr13

36776230

-
intron-3CDSENST00000494062ENST00000317764SPG20chr13

36920362

-SOHLH2chr13

36776230

-
5UTR-3CDSENST00000495510ENST00000554962SPG20chr13

36920362

-SOHLH2chr13

36776230

-
5UTR-3CDSENST00000495510ENST00000379881SPG20chr13

36920362

-SOHLH2chr13

36776230

-
5UTR-3CDSENST00000495510ENST00000317764SPG20chr13

36920362

-SOHLH2chr13

36776230

-

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FusionProtFeatures for SPG20_SOHLH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPG20

SOHLH2

Q9NX45

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Transcription regulator of both male and female germlinedifferentiation. Suppresses genes involved in spermatogonial stemcells maintenance, and induces genes important for spermatogonialdifferentiation. Coordinates oocyte differentiation withoutaffecting meiosis I (By similarity).{ECO:0000250|UniProtKB:Q6IUP1, ECO:0000250|UniProtKB:Q9D489}.

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 SPG20_SOHLH2


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 SPG20_SOHLH2


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
SPG20TUBA1A, UBC, HSPA5, HSPA9, HSPD1, ITCH, WWP1, DYNC1H1, KIF5B, KLC2, VIM, COPA, CLTC, LMNB1, KPNB1, NCL, AIFM1, HADHA, ACSL4, ACSL3, WWP2, SMURF1, SMURF2, PLIN3, EPS15, APP, ZFYVE9, WWOX, MAP3K1, DPH5, HYPK, RAD23B, MED20, CETN2, SEC16A, COQ9, CISD3, POLK, HECW2SOHLH2TCEB3B


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 SPG20_SOHLH2


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 SPG20_SOHLH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource