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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: 35637

FusionGeneSummary for SPECC1_STAMBP

check button Fusion gene summary
Fusion gene informationFusion gene name: SPECC1_STAMBP
Fusion gene ID: 35637
HgeneTgene
Gene symbol

SPECC1

STAMBP

Gene ID

92521

10617

Gene namesperm antigen with calponin homology and coiled-coil domains 1STAM binding protein
SynonymsCYTSB|HCMOGT-1|HCMOGT1|NSPAMSH|MICCAP
Cytomap

17p11.2

2p13.1

Type of geneprotein-codingprotein-coding
Descriptioncytospin-BNSP5cytokinesis and spindle organization Bnuclear structure protein 5sperm antigen HCMOGT-1sperm antigen with calponin-like and coiled coil domains 1structure protein NSP5a3astructure protein NSP5a3bstructure protein NSP5b3astructure prSTAM-binding proteinassociated molecule with the SH3 domain of STAMendosome-associated ubiquitin isopeptidasetesticular secretory protein Li 54
Modification date2018052320180523
UniProtAcc

Q5M775

O95630

Ensembl transtripts involved in fusion geneENST00000472876, ENST00000395527, 
ENST00000395529, ENST00000261503, 
ENST00000395530, ENST00000536879, 
ENST00000395522, ENST00000395525, 
ENST00000584527, 
ENST00000339566, 
ENST00000409707, ENST00000394073, 
ENST00000394070, ENST00000536064, 
ENST00000486458, 
Fusion gene scores* DoF score6 X 6 X 3=1083 X 4 X 4=48
# samples 64
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPECC1 [Title/Abstract] AND STAMBP [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
TCGALDUCECTCGA-E6-A8L9-01ASPECC1chr17

20163607

+STAMBPchr2

74100479

+
* 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-intronENST00000472876ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-3UTRENST00000472876ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000472876ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000472876ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000472876ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000472876ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395527ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000395527ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395527ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395527ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395527ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395527ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395529ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-3UTRENST00000395529ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395529ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395529ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395529ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395529ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000261503ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000261503ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000261503ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000261503ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000261503ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000261503ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395530ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000395530ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395530ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395530ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395530ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000395530ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000536879ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-3UTRENST00000536879ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000536879ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000536879ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000536879ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
5CDS-intronENST00000536879ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395522ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-3UTRENST00000395522ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395522ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395522ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395522ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395522ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395525ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-3UTRENST00000395525ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395525ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395525ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395525ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000395525ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000584527ENST00000339566SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-3UTRENST00000584527ENST00000409707SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000584527ENST00000394073SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000584527ENST00000394070SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000584527ENST00000536064SPECC1chr17

20163607

+STAMBPchr2

74100479

+
intron-intronENST00000584527ENST00000486458SPECC1chr17

20163607

+STAMBPchr2

74100479

+

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FusionProtFeatures for SPECC1_STAMBP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPECC1

Q5M775

STAMBP

O95630

Zinc metalloprotease that specifically cleaves 'Lys-63'-linked polyubiquitin chains. Does not cleave 'Lys-48'-linkedpolyubiquitin chains (By similarity). Plays a role in signaltransduction for cell growth and MYC induction mediated by IL-2and GM-CSF. Potentiates BMP (bone morphogenetic protein) signalingby antagonizing the inhibitory action of SMAD6 and SMAD7. Has akey role in regulation of cell surface receptor-mediatedendocytosis and ubiquitin-dependent sorting of receptors tolysosomes. Endosomal localization of STAMBP is required forefficient EGFR degradation but not for its internalization (Bysimilarity). Involved in the negative regulation of PI3K-AKT-mTORand RAS-MAP signaling pathways. {ECO:0000250,ECO:0000269|PubMed:10383417, ECO:0000269|PubMed:11483516,ECO:0000269|PubMed:15314065, ECO:0000269|PubMed:17261583,ECO:0000269|PubMed:23542699}.

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 SPECC1_STAMBP


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 SPECC1_STAMBP


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
SPECC1DAXX, TRAF2, PAN2, HECW2, NXF1, CCDC8, RNF2, SLC25A41, CAPZA2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, RAB5A, IQGAP1, ACTR2, ATP6AP2, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, PCGF1, DPPA4, NANOG, POU5F1, CDH1, RAB11FIP4, PCDHGB1, PCDHB11STAMBPGRAP2, STAM2, RNF11, SMURF2, STAM, SMAD6, SMAD7, AFP, CLTA, GRB2, PIK3C2A, CLINT1, OTUB1, CHMP3, CHMP2A, CHMP1A, CHMP1B, CLTC, CHMP4A, CHMP4B, CHMP4C, UBC, UBE2S, TRAF6, CASR, ALAS1, AMN, UACA, CTNNBL1, MAP2K5, PJA1, USP21, USP28, TRIP13, NTPCR, CYP2C9, CHMP5, ITGA5, SPG7, FDPS, VAMP8, MAP3K2, TNFRSF1A, GJA1, ODF3L1, CLTCL1, GAK, CDKL3, PTPN11, CCDC58, PSMD7, GTSE1, RNASEH2B, KIF7, TP53, STAMBPL1, BMP2K, RALBP1, RDH12, AP2A1, VTI1B, SLC25A41, IGHG2, IL1RL2


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 SPECC1_STAMBP


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 SPECC1_STAMBP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSTAMBPC0006111Brain Diseases1CTD_human
TgeneSTAMBPC0008073Developmental Disabilities1CTD_human
TgeneSTAMBPC0014544Epilepsy1CTD_human;HPO
TgeneSTAMBPC0025958Microcephaly1CTD_human
TgeneSTAMBPC1842180CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION (disorder)1CTD_human
TgeneSTAMBPC3280296Microcephaly-capillary malformation syndrome1ORPHANET;UNIPROT