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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: 34013

FusionGeneSummary for SLBP_TMEM129

check button Fusion gene summary
Fusion gene informationFusion gene name: SLBP_TMEM129
Fusion gene ID: 34013
HgeneTgene
Gene symbol

SLBP

TMEM129

Gene ID

7884

92305

Gene namestem-loop binding proteintransmembrane protein 129
SynonymsHBPD4S2561E
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionhistone RNA hairpin-binding proteinhairpin binding protein, histonehistone binding proteinhistone stem-loop binding proteinstem-loop (histone) binding proteinE3 ubiquitin-protein ligase TM129RING-type E3 ubiquitin transferase TM129transmembrane protein 129, E3 ubiquitin protein ligase
Modification date2018052320180523
UniProtAcc

Q14493

A0AVI4

Ensembl transtripts involved in fusion geneENST00000429429, ENST00000489418, 
ENST00000318386, ENST00000488267, 
ENST00000303277, ENST00000382936, 
ENST00000536901, 
Fusion gene scores* DoF score3 X 3 X 4=362 X 1 X 2=4
# samples 42
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: SLBP [Title/Abstract] AND TMEM129 [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
HgeneSLBP

GO:0051028

mRNA transport

19155325

TgeneTMEM129

GO:0000209

protein polyubiquitination

24807418


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-10-0937-01ASLBPchr4

1713601

-TMEM129chr4

1720353

-
* 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-3CDSENST00000429429ENST00000303277SLBPchr4

1713601

-TMEM129chr4

1720353

-
intron-3CDSENST00000429429ENST00000382936SLBPchr4

1713601

-TMEM129chr4

1720353

-
intron-3CDSENST00000429429ENST00000536901SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000489418ENST00000303277SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000489418ENST00000382936SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000489418ENST00000536901SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000318386ENST00000303277SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000318386ENST00000382936SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000318386ENST00000536901SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000488267ENST00000303277SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000488267ENST00000382936SLBPchr4

1713601

-TMEM129chr4

1720353

-
Frame-shiftENST00000488267ENST00000536901SLBPchr4

1713601

-TMEM129chr4

1720353

-

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FusionProtFeatures for SLBP_TMEM129


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

Q14493

TMEM129

A0AVI4

RNA-binding protein involved in the histone pre-mRNAprocessing. Binds the stem-loop structure of replication-dependenthistone pre-mRNAs and contributes to efficient 3'-end processingby stabilizing the complex between histone pre-mRNA and U7 smallnuclear ribonucleoprotein (snRNP), via the histone downstreamelement (HDE). Plays an important role in targeting mature histonemRNA from the nucleus to the cytoplasm and to the translationmachinery. Stabilizes mature histone mRNA and could be involved incell-cycle regulation of histone gene expression. Involved in themechanism by which growing oocytes accumulate histone proteinsthat support early embryogenesis. Binds to the 5' side of thestem-loop structure of histone pre-mRNAs.{ECO:0000269|PubMed:12588979, ECO:0000269|PubMed:19155325}. E3 ubiquitin-protein ligase involved in ER-associatedprotein degradation, preferentially associates with the E2 enzymeUBE2J2. Exploited by viral US11 proteins to mediate HLA class Iproteins degradation. {ECO:0000269|PubMed:24807418}.

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 SLBP_TMEM129


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 SLBP_TMEM129


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
SLBPERI1, ZNF473, UPF1, CDK4, CDK6, GSTM3, HIST1H2BG, TACC3, FEM1A, FEM1B, FEM1C, CUL2, NCBP1, CTIF, CCNF, CCNA2, DCAF11, CUL4A, SKP1, CDK1, CDK2, EIF4G1, ZCCHC6, MIF4GD, CSNK2A1, CSNK2A2, CUL1, P4HA3, ZFC3H1TMEM129PSMD4, UBE2D3, UBE2J2, DERL1, DERL2, VIMP, VCP, SEL1L, SYVN1, HLA-A, TMEM129, UBE2D1


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 SLBP_TMEM129


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 SLBP_TMEM129


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