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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: 38423

FusionGeneSummary for TMEM135_GPD1L

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM135_GPD1L
Fusion gene ID: 38423
HgeneTgene
Gene symbol

TMEM135

GPD1L

Gene ID

65084

23171

Gene nametransmembrane protein 135glycerol-3-phosphate dehydrogenase 1 like
SynonymsPMP52GPD1-L
Cytomap

11q14.2

3p22.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 135peroxisomal membrane protein 52glycerol-3-phosphate dehydrogenase 1-like protein
Modification date2018051920180519
UniProtAcc

Q86UB9

Q8N335

Ensembl transtripts involved in fusion geneENST00000340353, ENST00000532959, 
ENST00000305494, ENST00000535167, 
ENST00000355734, 
ENST00000282541, 
Fusion gene scores* DoF score12 X 6 X 7=5046 X 3 X 6=108
# samples 147
** MAII scorelog2(14/504*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM135 [Title/Abstract] AND GPD1L [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
TCGARVLGGTCGA-FG-5963-02ATMEM135chr11

86749228

+GPD1Lchr3

32169568

+
TCGARVLGGTCGA-FG-5963-01ATMEM135chr11

86749228

+GPD1Lchr3

32169568

+
* 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-shiftENST00000340353ENST00000282541TMEM135chr11

86749228

+GPD1Lchr3

32169568

+
intron-3CDSENST00000532959ENST00000282541TMEM135chr11

86749228

+GPD1Lchr3

32169568

+
Frame-shiftENST00000305494ENST00000282541TMEM135chr11

86749228

+GPD1Lchr3

32169568

+
5UTR-3CDSENST00000535167ENST00000282541TMEM135chr11

86749228

+GPD1Lchr3

32169568

+
Frame-shiftENST00000355734ENST00000282541TMEM135chr11

86749228

+GPD1Lchr3

32169568

+

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FusionProtFeatures for TMEM135_GPD1L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM135

Q86UB9

GPD1L

Q8N335

Involved in mitochondrial metabolism by regulating thebalance between mitochondrial fusion and fission. May act as aregulator of mitochondrial fission that promotes DNM1L-dependentfission through activation of DNM1L. May be involved in peroxisomeorganization. {ECO:0000250|UniProtKB:Q5U4F4,ECO:0000250|UniProtKB:Q9CYV5}. Plays a role in regulating cardiac sodium current;decreased enzymatic activity with resulting increased levels ofglycerol 3-phosphate activating the DPD1L-dependent SCN5Aphosphorylation pathway, may ultimately lead to decreased sodiumcurrent; cardiac sodium current may also be reduced due toalterations of NAD(H) balance induced by DPD1L.{ECO:0000269|PubMed:19666841, ECO:0000269|PubMed:19745168}.

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 TMEM135_GPD1L


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 TMEM135_GPD1L


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
TMEM135SMPD3GPD1LELAVL1, BSG, FAS, PALM2, ART3, ISLR, TGOLN2, ALDOA, ALDOC, CYCS, GNPNAT1, ACO2, CKMT1A, CKMT1B, FH, GAPDH, GPT2, MYH7B, PHGDH, PYCRL, PGM1, TPI1, UPP1, GPD1, LAMP2, FAM174A, C1orf85, CCL5, DKKL1


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 TMEM135_GPD1L


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 TMEM135_GPD1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMEM135C3714756Intellectual Disability1CTD_human
TgeneGPD1LC2673193Brugada Syndrome 23CTD_human;UNIPROT
TgeneGPD1LC0038644Sudden infant death syndrome2UNIPROT
TgeneGPD1LC0015695Fatty Liver1CTD_human