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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: 1213

FusionGeneSummary for AHI1_GLS

check button Fusion gene summary
Fusion gene informationFusion gene name: AHI1_GLS
Fusion gene ID: 1213
HgeneTgene
Gene symbol

AHI1

GLS

Gene ID

54806

27165

Gene nameAbelson helper integration site 1glutaminase 2
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1GA|GLS|LGA|hLGA
Cytomap

6q23.3

12q13.3

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domainsglutaminase liver isoform, mitochondrialL-glutamine amidohydrolasebreast cell glutaminaseglutaminase 2 (liver, mitochondrial)glutaminase Iphosphate-activated glutaminasephosphate-dependent glutaminase
Modification date2018051920180523
UniProtAcc

Q8N157

O94925

Ensembl transtripts involved in fusion geneENST00000367800, ENST00000457866, 
ENST00000417892, ENST00000327035, 
ENST00000488690, ENST00000367798, 
ENST00000528103, ENST00000534469, 
ENST00000531527, 		ENST00000320717, 
ENST00000338435, ENST00000409626, 
ENST00000409428, ENST00000409215, 
ENST00000471443, 
Fusion gene scores* DoF score6 X 7 X 4=1688 X 7 X 3=168
# samples 78
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHI1 [Title/Abstract] AND GLS [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
ChiTaRS3.1DA400572AHI1chr6

135818721

-GLSchr2

191765290

+
* 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
5UTR-3CDSENST00000367800ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000367800ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000367800ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000367800ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000367800ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000367800ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000457866ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000457866ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000457866ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000457866ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000457866ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000457866ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000417892ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000417892ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000417892ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000417892ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000417892ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000417892ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000327035ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000327035ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000327035ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000327035ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000327035ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000327035ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000488690ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000488690ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000488690ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000488690ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000488690ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000488690ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000367798ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000367798ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000367798ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000367798ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000367798ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000367798ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000528103ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000528103ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000528103ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000528103ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000528103ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000528103ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000534469ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
intron-3CDSENST00000534469ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000534469ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000534469ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000534469ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
intron-intronENST00000534469ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000531527ENST00000320717AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-3CDSENST00000531527ENST00000338435AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000531527ENST00000409626AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000531527ENST00000409428AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000531527ENST00000409215AHI1chr6

135818721

-GLSchr2

191765290

+
5UTR-intronENST00000531527ENST00000471443AHI1chr6

135818721

-GLSchr2

191765290

+

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FusionProtFeatures for AHI1_GLS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AHI1

Q8N157

GLS

O94925

Catalyzes the first reaction in the primary pathway forthe renal catabolism of glutamine. Plays a role in maintainingacid-base homeostasis. Regulates the levels of theneurotransmitter glutamate in the brain. Isoform 2 lacks catalyticactivity.

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 AHI1_GLS


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 AHI1_GLS


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
AHI1ELAVL1, KHDRBS1, DNM2, OFD1, PCM1, DSP, DVL1, ECD, HAUS8, IQCB1, MAPK9, MB21D2, NMT1, PPP2CA, PPP2R1A, PPP2R2A, SIRT2, SSX2IP, UNC45A, CEP131, CAD, CCDC138, LRRC49, MED4, PPP2R2B, SRP72, WRAP73, CC2D2A, DOCK5, PTPRQ, PIBF1, SLC9A3R2, PAFAH1B1, NINL, DCTN1, DCTN2GLSSNTA1, CUL5, ATXN10, ATF2, CAPN1, EIF5A, GDA, GNS, MVD, MYL12A, PEPD, MRPL43, METTL20, C21orf33, NUFIP1, MRPL4, PPA2, ATF6B, HMGCL, ETFA, MRM1, RARS2, TNF, OXLD1, UNK, SIRT5, MCM2, SPATA20, COQ9, PTPMT1, CISD3, CCL22, NDUFS7, SNRNP27, CFAP45, TRMT61B, YBEY, OTC, ACAD9, FGB, LAMP3, ATCAY


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 AHI1_GLS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGLSO94925DB00142Glutamic AcidGlutaminase kidney isoform, mitochondrialsmall moleculeapproved|nutraceutical

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RelatedDiseases for AHI1_GLS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHI1C1837713JOUBERT SYNDROME 35CTD_human;UNIPROT
HgeneAHI1C0004352Autistic Disorder1CTD_human
HgeneAHI1C0005586Bipolar Disorder1PSYGENET
HgeneAHI1C0007760Cerebellar Diseases1CTD_human
HgeneAHI1C0035304Retinal Degeneration1CTD_human
HgeneAHI1C0036341Schizophrenia1CTD_human
HgeneAHI1C0162538Immunoglobulin A deficiency (disorder)1CTD_human
HgeneAHI1C3714756Intellectual Disability1CTD_human;HPO
TgeneGLSC0000786Spontaneous abortion1CTD_human
TgeneGLSC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneGLSC0029408Degenerative polyarthritis1CTD_human
TgeneGLSC0036341Schizophrenia1PSYGENET