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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: 3169

FusionGeneSummary for ATG16L1_NGEF

check button Fusion gene summary
Fusion gene informationFusion gene name: ATG16L1_NGEF
Fusion gene ID: 3169
HgeneTgene
Gene symbol

ATG16L1

NGEF

Gene ID

55054

25791

Gene nameautophagy related 16 like 1neuronal guanine nucleotide exchange factor
SynonymsAPG16L|ATG16A|ATG16L|IBD10|WDR30ARHGEF27|EPHEXIN
Cytomap

2q37.1

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionautophagy-related protein 16-1APG16L betaATG16 autophagy related 16-like 1WD repeat domain 30ephexin-1eph-interacting exchange proteinephexin1
Modification date2018052920180519
UniProtAcc

Q676U5

Q8N5V2

Ensembl transtripts involved in fusion geneENST00000347464, ENST00000392017, 
ENST00000373525, ENST00000392020, 
ENST00000392018, ENST00000498620, 
ENST00000264051, ENST00000373552, 
ENST00000539537, ENST00000409079, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 4 X 3=36
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATG16L1 [Title/Abstract] AND NGEF [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-E1-A7Z2-01AATG16L1chr2

234202003

+NGEFchr2

233785295

-
* 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-shiftENST00000347464ENST00000264051ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000347464ENST00000373552ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000347464ENST00000539537ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000347464ENST00000409079ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000392017ENST00000264051ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000392017ENST00000373552ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000392017ENST00000539537ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000392017ENST00000409079ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000373525ENST00000264051ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000373525ENST00000373552ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000373525ENST00000539537ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000373525ENST00000409079ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000392020ENST00000264051ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000392020ENST00000373552ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000392020ENST00000539537ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000392020ENST00000409079ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000392018ENST00000264051ATG16L1chr2

234202003

+NGEFchr2

233785295

-
Frame-shiftENST00000392018ENST00000373552ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000392018ENST00000539537ATG16L1chr2

234202003

+NGEFchr2

233785295

-
5CDS-intronENST00000392018ENST00000409079ATG16L1chr2

234202003

+NGEFchr2

233785295

-
intron-3CDSENST00000498620ENST00000264051ATG16L1chr2

234202003

+NGEFchr2

233785295

-
intron-3CDSENST00000498620ENST00000373552ATG16L1chr2

234202003

+NGEFchr2

233785295

-
intron-intronENST00000498620ENST00000539537ATG16L1chr2

234202003

+NGEFchr2

233785295

-
intron-intronENST00000498620ENST00000409079ATG16L1chr2

234202003

+NGEFchr2

233785295

-

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FusionProtFeatures for ATG16L1_NGEF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATG16L1

Q676U5

NGEF

Q8N5V2

Acts as a guanine nucleotide exchange factor (GEF) whichdifferentially activates the GTPases RHOA, RAC1 and CDC42. Plays arole in axon guidance regulating ephrin-induced growth conecollapse and dendritic spine morphogenesis. Upon activation byephrin through EPHA4, the GEF activity switches toward RHOAresulting in its activation. Activated RHOA promotes coneretraction at the expense of RAC1- and CDC42-stimulated growthcone extension (By similarity). {ECO:0000250}.

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 ATG16L1_NGEF


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 ATG16L1_NGEF


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
ATG16L1ATG12, IKBKG, GAN, ATG5, AGPS, CCT7, CCT2, CCT3, SNAPC4, ATG3, MAP1LC3B, MAP1LC3C, ELAVL1, CLTC, HSPA4, FCGRT, AP2M1, RAB33B, RAB3D, RAB33A, RAB35, WDFY3, APP, SYNPO2, UBC, RB1CC1, TNK2, ATG13, ULK1, TMEM59, NOD2, TLR2, TRAF3IP3, DEDD2, WIPI2, MOV10, NXF1, ATG16L1, NOD1, PSMC3, SPC25, XPO1, MEFV, IRGM, DVL2, IKBIP, SCOC, PMF1, COLEC12, TRIP11, TRIM16, OPTNNGEFATP5C1, EPHA4, NUDT21, MRPL44, C7orf25, TAF1D, FAM118B, C8orf33, TFAP4, HCK, SH2D1A, PRKCD, SLC12A8, PRKCI, MRS2, ACTR1B, ACTR10


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 ATG16L1_NGEF


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 ATG16L1_NGEF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATG16L1C0010346Crohn Disease2CTD_human
HgeneATG16L1C0021390Inflammatory Bowel Diseases1CTD_human
HgeneATG16L1C1970207Inflammatory Bowel Disease 101CTD_human;UNIPROT