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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AFTPH-KIAA1841 (FusionGDB2 ID:2749)

Fusion Gene Summary for AFTPH-KIAA1841

check button Fusion gene summary
Fusion gene informationFusion gene name: AFTPH-KIAA1841
Fusion gene ID: 2749
HgeneTgene
Gene symbol

AFTPH

KIAA1841

Gene ID

54812

84542

Gene nameaftiphilinKIAA1841
SynonymsNbla10388-
Cytomap

2p14

2p15

Type of geneprotein-codingprotein-coding
Descriptionaftiphilinaftiphilin proteinuncharacterized protein KIAA1841
Modification date2020031320200313
UniProtAcc

Q6ULP2

Q6NSI8

Ensembl transtripts involved in fusion geneENST00000238855, ENST00000238856, 
ENST00000422803, ENST00000409183, 
ENST00000409933, ENST00000487769, 
ENST00000295031, ENST00000356719, 
ENST00000402291, ENST00000453873, 
ENST00000482513, 
Fusion gene scores* DoF score7 X 6 X 5=2108 X 7 X 6=336
# samples 89
** MAII scorelog2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFTPH [Title/Abstract] AND KIAA1841 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAFTPH(64751746)-KIAA1841(61343114), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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 AFTPH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KIAA1841 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LGGTCGA-DU-A7TJ-01AAFTPHchr2

64751746

-KIAA1841chr2

61343114

+
ChimerDB4LGGTCGA-DU-A7TJ-01AAFTPHchr2

64751746

+KIAA1841chr2

61343114

+
ChimerDB4LGGTCGA-DU-A7TJAFTPHchr2

64751746

+KIAA1841chr2

61343113

+
ChimerDB4LGGTCGA-DU-A7TJAFTPHchr2

64751746

+KIAA1841chr2

61343114

+


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Fusion Gene ORF analysis for AFTPH-KIAA1841

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-3CDSENST00000238855ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238855ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238855ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238855ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238855ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238855ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238855ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238855ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238856ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238856ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238856ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238856ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238856ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238856ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000238856ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000238856ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000422803ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000422803ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000422803ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000422803ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000422803ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000422803ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-3CDSENST00000422803ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-3CDSENST00000422803ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-intronENST00000238855ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-intronENST00000238855ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-intronENST00000238856ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-intronENST00000238856ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
5UTR-intronENST00000422803ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
5UTR-intronENST00000422803ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409183ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409183ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409183ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409183ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409183ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409183ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409183ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409183ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409933ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409933ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409933ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409933ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409933ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409933ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000409933ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000409933ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000487769ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000487769ENST00000295031AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000487769ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000487769ENST00000356719AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000487769ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000487769ENST00000402291AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-3CDSENST00000487769ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-3CDSENST00000487769ENST00000453873AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-intronENST00000409183ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-intronENST00000409183ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-intronENST00000409933ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-intronENST00000409933ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343113

+
intron-intronENST00000487769ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343114

+
intron-intronENST00000487769ENST00000482513AFTPHchr2

64751746

+KIAA1841chr2

61343113

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for AFTPH-KIAA1841


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
AFTPHchr264751746+KIAA1841chr261343113+2.98E-060.999997
AFTPHchr264751746+KIAA1841chr261343113+2.98E-060.999997
AFTPHchr264751746+KIAA1841chr261343113+2.98E-060.999997
AFTPHchr264751746+KIAA1841chr261343113+2.98E-060.999997

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for AFTPH-KIAA1841


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/:64751746/:61343114)
- 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
AFTPH

Q6ULP2

KIAA1841

Q6NSI8

FUNCTION: Component of clathrin-coated vesicles (PubMed:15758025). Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025). {ECO:0000269|PubMed:15758025}.

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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Fusion Gene Sequence for AFTPH-KIAA1841


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for AFTPH-KIAA1841


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


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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Related Drugs for AFTPH-KIAA1841


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AFTPH-KIAA1841


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