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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: 5640

FusionGeneSummary for CATSPERB_SPTB

check button Fusion gene summary
Fusion gene informationFusion gene name: CATSPERB_SPTB
Fusion gene ID: 5640
HgeneTgene
Gene symbol

CATSPERB

SPTB

Gene ID

79820

6710

Gene namecation channel sperm associated auxiliary subunit betaspectrin beta, erythrocytic
SynonymsC14orf161|CatSper(beta)EL3|HS2|HSPTB1|SPH2
Cytomap

14q32.12

14q23.3

Type of geneprotein-codingprotein-coding
Descriptioncation channel sperm-associated protein subunit betacatSper-betacation channel, sperm associated betacatsper channel auxiliary subunit betaspectrin beta chain, erythrocyticSp betabeta-I spectrinmembrane cytoskeletal proteinspectrin beta Tandilspectrin beta chain, erythrocyte
Modification date2018052320180519
UniProtAcc

Q9H7T0

P11277

Ensembl transtripts involved in fusion geneENST00000256343, ENST00000389722, 
ENST00000556626, ENST00000389721, 
ENST00000542895, ENST00000389720, 
ENST00000342835, 
Fusion gene scores* DoF score6 X 7 X 4=1683 X 3 X 2=18
# samples 103
** MAII scorelog2(10/168*10)=-0.748461233004036
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: CATSPERB [Title/Abstract] AND SPTB [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
TCGALDBRCATCGA-A2-A4RY-01ACATSPERBchr14

92105440

-SPTBchr14

65241245

-
* 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
Frame-shiftENST00000256343ENST00000389722CATSPERBchr14

92105440

-SPTBchr14

65241245

-
Frame-shiftENST00000256343ENST00000556626CATSPERBchr14

92105440

-SPTBchr14

65241245

-
Frame-shiftENST00000256343ENST00000389721CATSPERBchr14

92105440

-SPTBchr14

65241245

-
Frame-shiftENST00000256343ENST00000542895CATSPERBchr14

92105440

-SPTBchr14

65241245

-
Frame-shiftENST00000256343ENST00000389720CATSPERBchr14

92105440

-SPTBchr14

65241245

-
5CDS-intronENST00000256343ENST00000342835CATSPERBchr14

92105440

-SPTBchr14

65241245

-

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FusionProtFeatures for CATSPERB_SPTB


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

Q9H7T0

SPTB

P11277

Probably involved in sperm cell hyperactivation via itsassociation with CATSPER1. Sperm cell hyperactivation is neededfor sperm motility which is essential late in the preparation ofsperm for fertilization. {ECO:0000250|UniProtKB:A2RTF1}. Spectrin is the major constituent of the cytoskeletalnetwork underlying the erythrocyte plasma membrane. It associateswith band 4.1 and actin to form the cytoskeletal superstructure ofthe erythrocyte plasma membrane.

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 CATSPERB_SPTB


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 CATSPERB_SPTB


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
CATSPERBSPTBANK1, ADD1, SPTAN1, SPTA1, EPB41, NCAM1, LSM5, RASA3, YWHAQ, RHOD, RAB40AL, TXNDC5, SH2D2A, STAT1, GAN, GLB1L2, CPLX4, CRP, ZBTB12, MRPL38, NMNAT3


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 CATSPERB_SPTB


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 CATSPERB_SPTB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPTBC0037889Hereditary spherocytosis2CTD_human;ORPHANET
TgeneSPTBC0002878Anemia, Hemolytic1CTD_human;HPO
TgeneSPTBC0002891Anemia, Neonatal1CTD_human
TgeneSPTBC0013902Elliptocytosis, Hereditary1CTD_human;ORPHANET
TgeneSPTBC2674219SPHEROCYTOSIS, HEREDITARY, 21UNIPROT