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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: 38268

FusionGeneSummary for TMBIM6_GPM6A

check button Fusion gene summary
Fusion gene informationFusion gene name: TMBIM6_GPM6A
Fusion gene ID: 38268
HgeneTgene
Gene symbol

TMBIM6

GPM6A

Gene ID

7009

2823

Gene nametransmembrane BAX inhibitor motif containing 6glycoprotein M6A
SynonymsBAXI1|BI-1|TEGTGPM6|M6A
Cytomap

12q13.12

4q34.2

Type of geneprotein-codingprotein-coding
Descriptionbax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6neuronal membrane glycoprotein M6-a
Modification date2018051920180523
UniProtAcc

P55061

P51674

Ensembl transtripts involved in fusion geneENST00000548589, ENST00000552699, 
ENST00000267115, ENST00000549385, 
ENST00000423828, ENST00000395006, 
ENST00000547798, 		ENST00000280187, 
ENST00000393658, ENST00000506894, 
ENST00000515090, ENST00000506219, 
Fusion gene scores* DoF score11 X 15 X 6=9904 X 4 X 2=32
# samples 184
** MAII scorelog2(18/990*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMBIM6 [Title/Abstract] AND GPM6A [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
HgeneTMBIM6

GO:0010523

negative regulation of calcium ion transport into cytosol

26582200

HgeneTMBIM6

GO:0032091

negative regulation of protein binding

19328063

HgeneTMBIM6

GO:0060702

negative regulation of endoribonuclease activity

19328063

HgeneTMBIM6

GO:1902065

response to L-glutamate

21075086

HgeneTMBIM6

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

21075086

HgeneTMBIM6

GO:1903298

negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway

21075086

HgeneTMBIM6

GO:2001234

negative regulation of apoptotic signaling pathway

21075086

TgeneGPM6A

GO:0001764

neuron migration

19298174

TgeneGPM6A

GO:0048863

stem cell differentiation

19298174


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
ChiTaRS3.1DA189160TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
* 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-intronENST00000548589ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000548589ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000548589ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000548589ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000548589ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000552699ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000552699ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000552699ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000552699ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000552699ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000267115ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000267115ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000267115ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000267115ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000267115ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000549385ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000549385ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000549385ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000549385ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000549385ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000423828ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000423828ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000423828ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000423828ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
5UTR-intronENST00000423828ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000395006ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000395006ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000395006ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000395006ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000395006ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000547798ENST00000280187TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000547798ENST00000393658TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000547798ENST00000506894TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000547798ENST00000515090TMBIM6chr12

50135841

+GPM6Achr4

176924296

-
intron-intronENST00000547798ENST00000506219TMBIM6chr12

50135841

+GPM6Achr4

176924296

-

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FusionProtFeatures for TMBIM6_GPM6A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMBIM6

P55061

GPM6A

P51674

Suppressor of apoptosis (PubMed:21075086). Modulatesunfolded protein response signaling (PubMed:21075086). ModulatesER calcium homeostasis by acting as a calcium-leak channel(PubMed:22128171). Negatively regulates autophagy andautophagosome formation, especially during periods of nutrientdeprivation, and reduces cell survival during starvation (Bysimilarity). {ECO:0000250|UniProtKB:Q9D2C7,ECO:0000269|PubMed:21075086, ECO:0000269|PubMed:22128171}. Involved in neuronal differentiation, includingdifferentiation and migration of neuronal stem cells. Plays a rolein neuronal plasticity and is involved in neurite and filopodiaoutgrowth, filopodia motility and probably synapse formation.GPM6A-induced filopodia formation involves mitogen-activatedprotein kinase (MAPK) and Src signaling pathways. May be involvedin neuronal NGF-dependent Ca(2+) influx. May be involved inregulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization andrecycling of mu-type opioid receptor.{ECO:0000269|PubMed:19298174}.

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 TMBIM6_GPM6A


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 TMBIM6_GPM6A


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


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 TMBIM6_GPM6A


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 TMBIM6_GPM6A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGPM6AC0036341Schizophrenia1PSYGENET