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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: 11603

FusionGeneSummary for ENG_AK1

check button Fusion gene summary
Fusion gene informationFusion gene name: ENG_AK1
Fusion gene ID: 11603
HgeneTgene
Gene symbol

ENG

AK1

Gene ID

2022

203

Gene nameendoglinadenylate kinase 1
SynonymsEND|HHT1|ORW1HTL-S-58j
Cytomap

9q34.11

9q34.11

Type of geneprotein-codingprotein-coding
DescriptionendoglinCD105 antigenadenylate kinase isoenzyme 1ATP-AMP transphosphorylase 1ATP:AMP phosphotransferaseadenylate monophosphate kinasemyokinasetestis secretory sperm binding protein Li 58j
Modification date2018052720180519
UniProtAcc

P17813

P00568

Ensembl transtripts involved in fusion geneENST00000373203, ENST00000344849, 
ENST00000480266, 
ENST00000373176, 
ENST00000373156, ENST00000223836, 
Fusion gene scores* DoF score6 X 6 X 4=1442 X 2 X 3=12
# samples 73
** MAII scorelog2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ENG [Title/Abstract] AND AK1 [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
HgeneENG

GO:0001934

positive regulation of protein phosphorylation

12015308

HgeneENG

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

12015308

HgeneENG

GO:0017015

regulation of transforming growth factor beta receptor signaling pathway

15702480

HgeneENG

GO:0030336

negative regulation of cell migration

19736306

HgeneENG

GO:0030513

positive regulation of BMP signaling pathway

17068149

HgeneENG

GO:0031953

negative regulation of protein autophosphorylation

12015308

TgeneAK1

GO:0006165

nucleoside diphosphate phosphorylation

23416111

TgeneAK1

GO:0009142

nucleoside triphosphate biosynthetic process

23416111


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
TCGARVBRCATCGA-B6-A0I6-01AENGchr9

130605373

-AK1chr9

130630791

-
TCGALDGBMTCGA-4W-AA9S-01AENGchr9

130605373

-AK1chr9

130630791

-
* 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
In-frameENST00000373203ENST00000373176ENGchr9

130605373

-AK1chr9

130630791

-
In-frameENST00000373203ENST00000373156ENGchr9

130605373

-AK1chr9

130630791

-
In-frameENST00000373203ENST00000223836ENGchr9

130605373

-AK1chr9

130630791

-
In-frameENST00000344849ENST00000373176ENGchr9

130605373

-AK1chr9

130630791

-
In-frameENST00000344849ENST00000373156ENGchr9

130605373

-AK1chr9

130630791

-
In-frameENST00000344849ENST00000223836ENGchr9

130605373

-AK1chr9

130630791

-
intron-3CDSENST00000480266ENST00000373176ENGchr9

130605373

-AK1chr9

130630791

-
intron-3CDSENST00000480266ENST00000373156ENGchr9

130605373

-AK1chr9

130630791

-
intron-3CDSENST00000480266ENST00000223836ENGchr9

130605373

-AK1chr9

130630791

-

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FusionProtFeatures for ENG_AK1


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

P17813

AK1

P00568

Vascular endothelium glycoprotein that plays animportant role in the regulation of angiogenesis (PubMed:21737454,PubMed:23300529). Required for normal structure and integrity ofadult vasculature (PubMed:7894484). Regulates the migration ofvascular endothelial cells (PubMed:17540773). Required for normalextraembryonic angiogenesis and for embryonic heart development(By similarity). May regulate endothelial cell shape changes inresponse to blood flow, which drive vascular remodeling andestablishment of normal vascular morphology during angiogenesis(By similarity). May play a critical role in the binding ofendothelial cells to integrins and/or other RGD receptors(PubMed:1692830). Acts as TGF-beta coreceptor and is involved inthe TGF-beta/BMP signaling cascade that ultimately leads to theactivation of SMAD transcription factors (PubMed:8370410,PubMed:21737454, PubMed:22347366, PubMed:23300529). Required forGDF2/BMP9 signaling through SMAD1 in endothelial cells andmodulates TGFB1 signaling through SMAD3 (PubMed:21737454,PubMed:22347366, PubMed:23300529). {ECO:0000250|UniProtKB:Q63961,ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:21737454,ECO:0000269|PubMed:23300529, ECO:0000269|PubMed:7894484,ECO:0000269|PubMed:8370410, ECO:0000305|PubMed:1692830}. Catalyzes the reversible transfer of the terminalphosphate group between ATP and AMP. Also displays broadnucleoside diphosphate kinase activity. Plays an important role incellular energy homeostasis and in adenine nucleotide metabolism.{ECO:0000255|HAMAP-Rule:MF_03171, ECO:0000269|PubMed:23416111}.

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
HgeneENGchr9:130605373chr9:130630791ENST00000344849-21426_4673626RegionOR1%2C N-terminal part
HgeneENGchr9:130605373chr9:130630791ENST00000373203-21526_4673659RegionOR1%2C N-terminal part
TgeneAK1chr9:130605373chr9:130630791ENST00000373156-47131_141108195RegionLID
TgeneAK1chr9:130605373chr9:130630791ENST00000373176-47131_141108195RegionLID

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneENGchr9:130605373chr9:130630791ENST00000344849-214336_57673626Compositional biasNote=Ser/Thr-rich
HgeneENGchr9:130605373chr9:130630791ENST00000373203-215336_57673659Compositional biasNote=Ser/Thr-rich
HgeneENGchr9:130605373chr9:130630791ENST00000344849-214363_53373626DomainZP
HgeneENGchr9:130605373chr9:130630791ENST00000373203-215363_53373659DomainZP
HgeneENGchr9:130605373chr9:130630791ENST00000344849-214399_40173626MotifCell attachment site
HgeneENGchr9:130605373chr9:130630791ENST00000373203-215399_40173659MotifCell attachment site
HgeneENGchr9:130605373chr9:130630791ENST00000344849-214200_33073626RegionOR1%2C C-terminal part
HgeneENGchr9:130605373chr9:130630791ENST00000344849-21447_19973626RegionOR2
HgeneENGchr9:130605373chr9:130630791ENST00000373203-215200_33073659RegionOR1%2C C-terminal part
HgeneENGchr9:130605373chr9:130630791ENST00000373203-21547_19973659RegionOR2
HgeneENGchr9:130605373chr9:130630791ENST00000344849-21426_58673626Topological domainExtracellular
HgeneENGchr9:130605373chr9:130630791ENST00000344849-214612_65873626Topological domainCytoplasmic
HgeneENGchr9:130605373chr9:130630791ENST00000373203-21526_58673659Topological domainExtracellular
HgeneENGchr9:130605373chr9:130630791ENST00000373203-215612_65873659Topological domainCytoplasmic
HgeneENGchr9:130605373chr9:130630791ENST00000344849-214587_61173626TransmembraneHelical
HgeneENGchr9:130605373chr9:130630791ENST00000373203-215587_61173659TransmembraneHelical
TgeneAK1chr9:130605373chr9:130630791ENST00000373156-4718_23108195Nucleotide bindingATP
TgeneAK1chr9:130605373chr9:130630791ENST00000373156-4765_67108195Nucleotide bindingAMP
TgeneAK1chr9:130605373chr9:130630791ENST00000373156-4794_97108195Nucleotide bindingAMP
TgeneAK1chr9:130605373chr9:130630791ENST00000373176-4718_23108195Nucleotide bindingATP
TgeneAK1chr9:130605373chr9:130630791ENST00000373176-4765_67108195Nucleotide bindingAMP
TgeneAK1chr9:130605373chr9:130630791ENST00000373176-4794_97108195Nucleotide bindingAMP
TgeneAK1chr9:130605373chr9:130630791ENST00000373156-4738_67108195RegionNMPbind
TgeneAK1chr9:130605373chr9:130630791ENST00000373176-4738_67108195RegionNMPbind


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FusionGeneSequence for ENG_AK1


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 ENG_AK1


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
ENGTGFBR2, TGFBR1, ACVR1, ACVR2B, BMP7, BMP2, ACVR2A, TUFM, ACVRL1, TGFB3, TGFB1, ENGAK1KMT2C, FHL2, TRIM63, BRD4, TERF1, TERF2IP, TINF2, APP, IDH1, NXF1, DECR1, MRE11A, SLC12A2, TIA1, OGT, SUCLG2, CD2BP2, COBLL1, RAB11FIP2, GEMIN5, PCF11, NBAS, KDM3B, BUD13, CIRH1A, B3GALTL


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 ENG_AK1


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 ENG_AK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneENGC0039445Hereditary hemorrhagic telangiectasia12CTD_human;ORPHANET;UNIPROT
TgeneAK1C2675459Adenylate Kinase Deficiency, Hemolytic Anemia Due To3CTD_human;ORPHANET;UNIPROT
TgeneAK1C0151744Myocardial Ischemia1CTD_human
TgeneAK1C0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human