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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: 38267

FusionGeneSummary for TMBIM6_GLUL

check button Fusion gene summary
Fusion gene informationFusion gene name: TMBIM6_GLUL
Fusion gene ID: 38267
HgeneTgene
Gene symbol

TMBIM6

GLUL

Gene ID

7009

2752

Gene nametransmembrane BAX inhibitor motif containing 6glutamate-ammonia ligase
SynonymsBAXI1|BI-1|TEGTGLNS|GS|PIG43|PIG59
Cytomap

12q13.12

1q25.3

Type of geneprotein-codingprotein-coding
Descriptionbax inhibitor 1testis enhanced gene transcripttestis-enhanced gene transcript proteintransmembrane BAX inhibitor motif-containing protein 6glutamine synthetasecell proliferation-inducing protein 59glutamate decarboxylaseglutamine synthaseproliferation-inducing protein 43
Modification date2018051920180522
UniProtAcc

P55061

P15104

Ensembl transtripts involved in fusion geneENST00000548589, ENST00000552699, 
ENST00000267115, ENST00000549385, 
ENST00000423828, ENST00000395006, 
ENST00000547798, 		ENST00000331872, 
ENST00000417584, ENST00000311223, 
ENST00000491322, ENST00000339526, 
Fusion gene scores* DoF score11 X 15 X 6=99014 X 15 X 5=1050
# samples 1817
** MAII scorelog2(18/990*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1050*10)=-2.62678267641578
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMBIM6 [Title/Abstract] AND GLUL [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

TgeneGLUL

GO:0008283

cell proliferation

18662667


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
TCGALDGBMTCGA-06-A6S0-01ATMBIM6chr12

50152545

+GLULchr1

182357885

-
* 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-5UTRENST00000548589ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
intron-5UTRENST00000548589ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
intron-5UTRENST00000548589ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
intron-5UTRENST00000548589ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
intron-5UTRENST00000548589ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000552699ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000552699ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000552699ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000552699ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000552699ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000267115ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000267115ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000267115ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000267115ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000267115ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000549385ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000549385ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000549385ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000549385ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000549385ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000423828ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000423828ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000423828ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000423828ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000423828ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000395006ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000395006ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000395006ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000395006ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000395006ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000547798ENST00000331872TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000547798ENST00000417584TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000547798ENST00000311223TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000547798ENST00000491322TMBIM6chr12

50152545

+GLULchr1

182357885

-
5CDS-5UTRENST00000547798ENST00000339526TMBIM6chr12

50152545

+GLULchr1

182357885

-

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FusionProtFeatures for TMBIM6_GLUL


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

P55061

GLUL

P15104

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}. This enzyme has 2 functions: it catalyzes the productionof glutamine and 4-aminobutanoate (gamma-aminobutyric acid, GABA),the latter in a pyridoxal phosphate-independent manner (Bysimilarity). Essential for proliferation of fetal skinfibroblasts. {ECO:0000250, ECO:0000269|PubMed:18662667}.

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_GLUL


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_GLUL


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
TMBIM6BCL2, BFAR, CERS2, VTI1A, HSD11B1, POMK, SERINC2, CLEC5A, GLP1R, ADAM33, KIAA2013, ODF4, ASIC4, SPPL2B, RNF185, C5orf46, CLCC1, CHRND, TMCO3, MPPE1, IL17RC, TRPM8, ATG9A, ST8SIA4, TMEM63A, RNF170GLULPLEKHF2, GLUL, NUDT18, ND5, UBE2I, PIAS1, PIAS2, CASP8AP2, HIPK3, PIAS3, HIPK1, UBC, PPARD, RBBP6, SKIL, RABEPK, NFKB1, CYP39A1, FAM129B, ZFAND2B, NME7, DMXL2, TCHP, UBAP2, ASPSCR1, MCM2, HSD17B10, ZNRF1, CRBN, EP300, EGFR, C1orf94, TBC1D22B, TRIM25


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_GLUL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGLULP15104DB00130L-GlutamineGlutamine synthetasesmall moleculeapproved|investigational|nutraceutical
TgeneGLULP15104DB00142Glutamic AcidGlutamine synthetasesmall moleculeapproved|nutraceutical

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RelatedDiseases for TMBIM6_GLUL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGLULC0036341Schizophrenia4PSYGENET
TgeneGLULC0001973Alcoholic Intoxication, Chronic2PSYGENET
TgeneGLULC0023904Liver Neoplasms, Experimental2CTD_human
TgeneGLULC0011570Mental Depression1PSYGENET
TgeneGLULC0011581Depressive disorder1PSYGENET
TgeneGLULC0019151Hepatic Encephalopathy1CTD_human
TgeneGLULC0028754Obesity1CTD_human
TgeneGLULC0033975Psychotic Disorders1PSYGENET
TgeneGLULC0236663Alcohol withdrawal syndrome1PSYGENET
TgeneGLULC0525045Mood Disorders1PSYGENET
TgeneGLULC0752109Brain Diseases, Metabolic, Inborn1CTD_human
TgeneGLULC1864910Glutamine deficiency, congenital1CTD_human;ORPHANET;UNIPROT
TgeneGLULC2239176Liver carcinoma1CTD_human