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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: 35619

FusionGeneSummary for SPECC1L_BCL2L13

check button Fusion gene summary
Fusion gene informationFusion gene name: SPECC1L_BCL2L13
Fusion gene ID: 35619
HgeneTgene
Gene symbol

SPECC1L

BCL2L13

Gene ID

23384

23786

Gene namesperm antigen with calponin homology and coiled-coil domains 1 likeBCL2 like 13
SynonymsCYTSA|GBBB2|OBLFC1BCL-RAMBO|Bcl2-L-13|MIL1
Cytomap

22q11.23

22q11.21

Type of geneprotein-codingprotein-coding
Descriptioncytospin-ASPECC1-like proteincytokinesis and spindle organization Arenal carcinoma antigen NY-REN-22bcl-2-like protein 13BCL2-like 13 (apoptosis facilitator)
Modification date2018052320180523
UniProtAcc

Q69YQ0

Q9BXK5

Ensembl transtripts involved in fusion geneENST00000437398, ENST00000314328, 
ENST00000541492, ENST00000416735, 
ENST00000399782, ENST00000317582, 
ENST00000543133, ENST00000538149, 
ENST00000337612, ENST00000493680, 
ENST00000355028, ENST00000418951, 
ENST00000485631, 
Fusion gene scores* DoF score15 X 6 X 11=9907 X 7 X 5=245
# samples 158
** MAII scorelog2(15/990*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPECC1L [Title/Abstract] AND BCL2L13 [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
HgeneSPECC1L

GO:0007155

cell adhesion

21703590


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
TCGALDLUADTCGA-44-6774-01ASPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
* 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-3CDSENST00000437398ENST00000399782SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-3CDSENST00000437398ENST00000317582SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-5UTRENST00000437398ENST00000543133SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000437398ENST00000538149SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000437398ENST00000337612SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000437398ENST00000493680SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000437398ENST00000355028SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000437398ENST00000418951SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000437398ENST00000485631SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-3CDSENST00000314328ENST00000399782SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-3CDSENST00000314328ENST00000317582SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-5UTRENST00000314328ENST00000543133SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000314328ENST00000538149SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000314328ENST00000337612SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000314328ENST00000493680SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000314328ENST00000355028SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000314328ENST00000418951SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000314328ENST00000485631SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-3CDSENST00000541492ENST00000399782SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-3CDSENST00000541492ENST00000317582SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-5UTRENST00000541492ENST00000543133SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000541492ENST00000538149SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000541492ENST00000337612SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000541492ENST00000493680SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000541492ENST00000355028SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000541492ENST00000418951SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
5UTR-intronENST00000541492ENST00000485631SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-3CDSENST00000416735ENST00000399782SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-3CDSENST00000416735ENST00000317582SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-5UTRENST00000416735ENST00000543133SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-intronENST00000416735ENST00000538149SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-intronENST00000416735ENST00000337612SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-intronENST00000416735ENST00000493680SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-intronENST00000416735ENST00000355028SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-intronENST00000416735ENST00000418951SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+
3UTR-intronENST00000416735ENST00000485631SPECC1Lchr22

24666951

+BCL2L13chr22

18178907

+

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FusionProtFeatures for SPECC1L_BCL2L13


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPECC1L

Q69YQ0

BCL2L13

Q9BXK5

Involved in cytokinesis and spindle organization. Mayplay a role in actin cytoskeleton organization and microtubulestabilization and hence required for proper cell adhesion andmigration. {ECO:0000269|PubMed:21703590}. May promote the activation of caspase-3 and apoptosis.

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 SPECC1L_BCL2L13


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 SPECC1L_BCL2L13


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
SPECC1LAPC, UBE2I, GLIS2, FBXO25, KIAA0368, UBC, PAN2, CCDC8, LUZP4, SLC25A41, ZNF219, KCTD17, FSD1, NFKBIA, LRFN4, RCN1, OBFC1, AP2M1, CHRNA9, SLC30A6, SPC25, HERC2, CAPZA2, CDK2, DBN1, MYH9, PPP1CB, IQGAP1, PDLIM7, SYNPO, ANLN, MYO5C, MYO19, MYO18A, C10orf2, LPXN, VAV1, ATMIN, ZNF785, G2E3, DUSP22, FEZ1, CCNJ, FSCN2, RPL15, G3BP1BCL2L13GABARAPL2, APP, NINJ2, UPK1B, VAMP4, VAMP3, BET1, PLLP, TMUB2, TMEM128, TMEM86B, SOD1, SLC7A1, MTNR1B


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 SPECC1L_BCL2L13


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 SPECC1L_BCL2L13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPECC1LC1801950Opitz-G syndrome, type 21ORPHANET;UNIPROT
HgeneSPECC1LC1838348Oculomaxillofacial dysostosis1ORPHANET;UNIPROT