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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AAK1-YIPF1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AAK1-YIPF1
FusionPDB ID: 72
FusionGDB2.0 ID: 72
HgeneTgene
Gene symbol

AAK1

YIPF1

Gene ID

112268437

54432

Gene nameuncharacterized protein FLJ45252Yip1 domain family member 1
SynonymsAAK1DJ167A19.1|FinGER1
Cytomap

-

1p32.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein FLJ45252alternative protein AAK1protein YIPF1YIP1 family member 1
Modification date2020030320200313
UniProtAcc

Q2M2I8

.
Ensembl transtripts involved in fusion geneENST idsENST00000406297, ENST00000409068, 
ENST00000409085, ENST00000470281, 
ENST00000469457, ENST00000072644, 
ENST00000539954, ENST00000371399, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 13 X 11=27176 X 4 X 4=96
# samples 229
** MAII scorelog2(22/2717*10)=-3.62643913669732
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/96*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AAK1 [Title/Abstract] AND YIPF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AAK1(69870009)-YIPF1(54325826), # samples:1
AAK1(69870010)-YIPF1(54325826), # samples:1
Anticipated loss of major functional domain due to fusion event.AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
AAK1-YIPF1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across AAK1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across YIPF1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4GBMTCGA-28-5213-01AAAK1chr2

69870010

-YIPF1chr1

54325826

-
ChimerDB4GBMTCGA-28-5213AAK1chr2

69870009

-YIPF1chr1

54325826

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000409068AAK1chr269870009-ENST00000371399YIPF1chr154325826-11134775622187
ENST00000409085AAK1chr269870009-ENST00000371399YIPF1chr154325826-11765406252207
ENST00000406297AAK1chr269870009-ENST00000371399YIPF1chr154325826-11765406252207
ENST00000409068AAK1chr269870010-ENST00000371399YIPF1chr154325826-11134775622187
ENST00000409085AAK1chr269870010-ENST00000371399YIPF1chr154325826-11765406252207
ENST00000406297AAK1chr269870010-ENST00000371399YIPF1chr154325826-11765406252207

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000409068ENST00000371399AAK1chr269870009-YIPF1chr154325826-0.24275810.7572419
ENST00000409085ENST00000371399AAK1chr269870009-YIPF1chr154325826-0.137922170.86207783
ENST00000406297ENST00000371399AAK1chr269870009-YIPF1chr154325826-0.137922170.86207783
ENST00000409068ENST00000371399AAK1chr269870010-YIPF1chr154325826-0.24275810.7572419
ENST00000409085ENST00000371399AAK1chr269870010-YIPF1chr154325826-0.137922170.86207783
ENST00000406297ENST00000371399AAK1chr269870010-YIPF1chr154325826-0.137922170.86207783

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>72_72_1_AAK1-YIPF1_AAK1_chr2_69870009_ENST00000406297_YIPF1_chr1_54325826_ENST00000371399_length(amino acids)=207AA_BP=1
MDLAAATVWFGVAVVVGRWSISGASKKYAFRQHLVHCDLLSPDAEDSSDVATAQARGAAPSSAGAGAQARAALLSPGVEKLLHLANREQQ
SKIPMVSRFFFFFFFFKKRDPRISSQISPRRGATRIRPWGWGLREDAYRNMRVNRAAGPLLLQKAIRVSLNLRRLGGRRPATSPATLSRP

--------------------------------------------------------------

>72_72_2_AAK1-YIPF1_AAK1_chr2_69870009_ENST00000409068_YIPF1_chr1_54325826_ENST00000371399_length(amino acids)=187AA_BP=1
MDLAAATVWFGVAVVVGRWSISGASKKYAFRQHLVHCDLLSPDAEDSSDVATAQARGAAPSSAGAGAQARAALLSPGVEKLLHLANREQQ
SKIPMVSRFFFFFFFFKKRDPRISSQISPRRGATRIRPWGWGLREDAYRNMRVNRAAGPLLLQKAIRVSLNLRRLGGRRPATSPATLSRP

--------------------------------------------------------------

>72_72_3_AAK1-YIPF1_AAK1_chr2_69870009_ENST00000409085_YIPF1_chr1_54325826_ENST00000371399_length(amino acids)=207AA_BP=1
MDLAAATVWFGVAVVVGRWSISGASKKYAFRQHLVHCDLLSPDAEDSSDVATAQARGAAPSSAGAGAQARAALLSPGVEKLLHLANREQQ
SKIPMVSRFFFFFFFFKKRDPRISSQISPRRGATRIRPWGWGLREDAYRNMRVNRAAGPLLLQKAIRVSLNLRRLGGRRPATSPATLSRP

--------------------------------------------------------------

>72_72_4_AAK1-YIPF1_AAK1_chr2_69870010_ENST00000406297_YIPF1_chr1_54325826_ENST00000371399_length(amino acids)=207AA_BP=1
MDLAAATVWFGVAVVVGRWSISGASKKYAFRQHLVHCDLLSPDAEDSSDVATAQARGAAPSSAGAGAQARAALLSPGVEKLLHLANREQQ
SKIPMVSRFFFFFFFFKKRDPRISSQISPRRGATRIRPWGWGLREDAYRNMRVNRAAGPLLLQKAIRVSLNLRRLGGRRPATSPATLSRP

--------------------------------------------------------------

>72_72_5_AAK1-YIPF1_AAK1_chr2_69870010_ENST00000409068_YIPF1_chr1_54325826_ENST00000371399_length(amino acids)=187AA_BP=1
MDLAAATVWFGVAVVVGRWSISGASKKYAFRQHLVHCDLLSPDAEDSSDVATAQARGAAPSSAGAGAQARAALLSPGVEKLLHLANREQQ
SKIPMVSRFFFFFFFFKKRDPRISSQISPRRGATRIRPWGWGLREDAYRNMRVNRAAGPLLLQKAIRVSLNLRRLGGRRPATSPATLSRP

--------------------------------------------------------------

>72_72_6_AAK1-YIPF1_AAK1_chr2_69870010_ENST00000409085_YIPF1_chr1_54325826_ENST00000371399_length(amino acids)=207AA_BP=1
MDLAAATVWFGVAVVVGRWSISGASKKYAFRQHLVHCDLLSPDAEDSSDVATAQARGAAPSSAGAGAQARAALLSPGVEKLLHLANREQQ
SKIPMVSRFFFFFFFFKKRDPRISSQISPRRGATRIRPWGWGLREDAYRNMRVNRAAGPLLLQKAIRVSLNLRRLGGRRPATSPATLSRP

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:69870009/chr1:54325826)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AAK1

Q2M2I8

.
FUNCTION: Regulates clathrin-mediated endocytosis by phosphorylating the AP2M1/mu2 subunit of the adaptor protein complex 2 (AP-2) which ensures high affinity binding of AP-2 to cargo membrane proteins during the initial stages of endocytosis (PubMed:17494869, PubMed:11877457, PubMed:11877461, PubMed:12952931, PubMed:14617351, PubMed:25653444). Isoform 1 and isoform 2 display similar levels of kinase activity towards AP2M1 (PubMed:17494869). Preferentially, may phosphorylate substrates on threonine residues (PubMed:11877457, PubMed:18657069). Regulates phosphorylation of other AP-2 subunits as well as AP-2 localization and AP-2-mediated internalization of ligand complexes (PubMed:12952931). Phosphorylates NUMB and regulates its cellular localization, promoting NUMB localization to endosomes (PubMed:18657069). Binds to and stabilizes the activated form of NOTCH1, increases its localization in endosomes and regulates its transcriptional activity (PubMed:21464124). {ECO:0000269|PubMed:11877457, ECO:0000269|PubMed:11877461, ECO:0000269|PubMed:12952931, ECO:0000269|PubMed:14617351, ECO:0000269|PubMed:17494869, ECO:0000269|PubMed:18657069, ECO:0000269|PubMed:21464124, ECO:0000269|PubMed:25653444}.; FUNCTION: (Microbial infection) By regulating clathrin-mediated endocytosis, AAK1 plays a role in the entry of hepatitis C virus as well as for the lifecycle of other viruses such as Ebola and Dengue. {ECO:0000269|PubMed:25653444, ECO:0000305|PubMed:31136173}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAAK1chr2:69870009chr1:54325826ENST00000406297-21812_4254.333333333333336864.0Compositional biasNote=Gly-rich
HgeneAAK1chr2:69870009chr1:54325826ENST00000409085-22212_4254.333333333333336962.0Compositional biasNote=Gly-rich
HgeneAAK1chr2:69870010chr1:54325826ENST00000406297-21812_4254.333333333333336864.0Compositional biasNote=Gly-rich
HgeneAAK1chr2:69870010chr1:54325826ENST00000409085-22212_4254.333333333333336962.0Compositional biasNote=Gly-rich
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811278_306277.0422.6666666666667Topological domainLumenal
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969141_16294.0259.0Topological domainLumenal
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969184_20094.0259.0Topological domainCytoplasmic
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969222_22794.0259.0Topological domainLumenal
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969249_25694.0259.0Topological domainCytoplasmic
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969278_30694.0259.0Topological domainLumenal
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811278_306277.0422.6666666666667Topological domainLumenal
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969141_16294.0259.0Topological domainLumenal
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969184_20094.0259.0Topological domainCytoplasmic
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969222_22794.0259.0Topological domainLumenal
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969249_25694.0259.0Topological domainCytoplasmic
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969278_30694.0259.0Topological domainLumenal
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969120_14094.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969163_18394.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969201_22194.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969228_24894.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST0000037139969257_27794.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969120_14094.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969163_18394.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969201_22194.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969228_24894.0259.0TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST0000037139969257_27794.0259.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAAK1chr2:69870009chr1:54325826ENST00000406297-218397_61454.333333333333336864.0Compositional biasNote=Gln-rich
HgeneAAK1chr2:69870009chr1:54325826ENST00000406297-218658_66354.333333333333336864.0Compositional biasNote=Poly-Ala
HgeneAAK1chr2:69870009chr1:54325826ENST00000409085-222397_61454.333333333333336962.0Compositional biasNote=Gln-rich
HgeneAAK1chr2:69870009chr1:54325826ENST00000409085-222658_66354.333333333333336962.0Compositional biasNote=Poly-Ala
HgeneAAK1chr2:69870010chr1:54325826ENST00000406297-218397_61454.333333333333336864.0Compositional biasNote=Gln-rich
HgeneAAK1chr2:69870010chr1:54325826ENST00000406297-218658_66354.333333333333336864.0Compositional biasNote=Poly-Ala
HgeneAAK1chr2:69870010chr1:54325826ENST00000409085-222397_61454.333333333333336962.0Compositional biasNote=Gln-rich
HgeneAAK1chr2:69870010chr1:54325826ENST00000409085-222658_66354.333333333333336962.0Compositional biasNote=Poly-Ala
HgeneAAK1chr2:69870009chr1:54325826ENST00000406297-21846_31554.333333333333336864.0DomainProtein kinase
HgeneAAK1chr2:69870009chr1:54325826ENST00000409085-22246_31554.333333333333336962.0DomainProtein kinase
HgeneAAK1chr2:69870010chr1:54325826ENST00000406297-21846_31554.333333333333336864.0DomainProtein kinase
HgeneAAK1chr2:69870010chr1:54325826ENST00000409085-22246_31554.333333333333336962.0DomainProtein kinase
HgeneAAK1chr2:69870009chr1:54325826ENST00000406297-21852_6054.333333333333336864.0Nucleotide bindingATP
HgeneAAK1chr2:69870009chr1:54325826ENST00000409085-22252_6054.333333333333336962.0Nucleotide bindingATP
HgeneAAK1chr2:69870010chr1:54325826ENST00000406297-21852_6054.333333333333336864.0Nucleotide bindingATP
HgeneAAK1chr2:69870010chr1:54325826ENST00000409085-22252_6054.333333333333336962.0Nucleotide bindingATP
HgeneAAK1chr2:69870009chr1:54325826ENST00000406297-218823_96054.333333333333336864.0RegionClathrin-binding domain (CBD)
HgeneAAK1chr2:69870009chr1:54325826ENST00000409085-222823_96054.333333333333336962.0RegionClathrin-binding domain (CBD)
HgeneAAK1chr2:69870010chr1:54325826ENST00000406297-218823_96054.333333333333336864.0RegionClathrin-binding domain (CBD)
HgeneAAK1chr2:69870010chr1:54325826ENST00000409085-222823_96054.333333333333336962.0RegionClathrin-binding domain (CBD)
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811141_162277.0422.6666666666667Topological domainLumenal
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811184_200277.0422.6666666666667Topological domainCytoplasmic
TgeneYIPF1chr2:69870009chr1:54325826ENST000000726448111_119277.0422.6666666666667Topological domainCytoplasmic
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811222_227277.0422.6666666666667Topological domainLumenal
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811249_256277.0422.6666666666667Topological domainCytoplasmic
TgeneYIPF1chr2:69870009chr1:54325826ENST00000371399691_11994.0259.0Topological domainCytoplasmic
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811141_162277.0422.6666666666667Topological domainLumenal
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811184_200277.0422.6666666666667Topological domainCytoplasmic
TgeneYIPF1chr2:69870010chr1:54325826ENST000000726448111_119277.0422.6666666666667Topological domainCytoplasmic
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811222_227277.0422.6666666666667Topological domainLumenal
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811249_256277.0422.6666666666667Topological domainCytoplasmic
TgeneYIPF1chr2:69870010chr1:54325826ENST00000371399691_11994.0259.0Topological domainCytoplasmic
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811120_140277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811163_183277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811201_221277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811228_248277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870009chr1:54325826ENST00000072644811257_277277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811120_140277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811163_183277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811201_221277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811228_248277.0422.6666666666667TransmembraneHelical
TgeneYIPF1chr2:69870010chr1:54325826ENST00000072644811257_277277.0422.6666666666667TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AAK1
YIPF1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to AAK1-YIPF1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to AAK1-YIPF1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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