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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:AP1B1-HM13 (FusionGDB2 ID:5166)

Fusion Gene Summary for AP1B1-HM13

check button Fusion gene summary
Fusion gene informationFusion gene name: AP1B1-HM13
Fusion gene ID: 5166
HgeneTgene
Gene symbol

AP1B1

HM13

Gene ID

162

81502

Gene nameadaptor related protein complex 1 subunit beta 1histocompatibility minor 13
SynonymsADTB1|AP105A|BAM22|CLAPB2|KIDARH13|IMP1|IMPAS|IMPAS-1|MSTP086|PSENL3|PSL3|SPP|SPPL1
Cytomap

22q12.2

20q11.21

Type of geneprotein-codingprotein-coding
DescriptionAP-1 complex subunit beta-1ADTB1, CLAPB2Golgi adaptor HA1/AP1 adaptin beta subunitadapter-related protein complex 1 subunit beta-1adaptor protein complex AP-1 subunit beta-1adaptor related protein complex 1 beta 1 subunitbeta-1-adaptinbeta-adaptin minor histocompatibility antigen H13intramembrane protease 1minor histocompatibility antigen 13presenilin-like protein 3signal peptide peptidase betasignal peptide peptidase like 1
Modification date2020031320200313
UniProtAcc

Q10567

Q8TCT9

Ensembl transtripts involved in fusion geneENST00000317368, ENST00000356015, 
ENST00000357586, ENST00000432560, 
ENST00000402502, ENST00000405198, 
ENST00000415447, ENST00000472057, 
ENST00000335574, ENST00000340852, 
ENST00000376127, ENST00000398174, 
ENST00000492709, 
Fusion gene scores* DoF score11 X 11 X 7=84716 X 19 X 12=3648
# samples 1325
** MAII scorelog2(13/847*10)=-2.70385034630374
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(25/3648*10)=-3.86710572950266
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP1B1 [Title/Abstract] AND HM13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP1B1(29784413)-HM13(30125982), # samples:1
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
TgeneHM13

GO:0033619

membrane protein proteolysis

14741365


check buttonFusion gene breakpoints across AP1B1 (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 HM13 (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
ChimerDB4STADTCGA-D7-6822-01AAP1B1chr22

29784413

-HM13chr20

30125982

+


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Fusion Gene ORF analysis for AP1B1-HM13

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-3CDSENST00000317368ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000317368ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000317368ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000317368ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000356015ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000356015ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000356015ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000356015ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000357586ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000357586ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000357586ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000357586ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000432560ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000432560ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000432560ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-3CDSENST00000432560ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-intronENST00000317368ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-intronENST00000356015ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-intronENST00000357586ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
5UTR-intronENST00000432560ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000402502ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000402502ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000402502ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000402502ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000405198ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000405198ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000405198ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000405198ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000415447ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000415447ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000415447ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000415447ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000472057ENST00000335574AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000472057ENST00000340852AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000472057ENST00000376127AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-3CDSENST00000472057ENST00000398174AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-intronENST00000402502ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-intronENST00000405198ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-intronENST00000415447ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+
intron-intronENST00000472057ENST00000492709AP1B1chr22

29784413

-HM13chr20

30125982

+

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 AP1B1-HM13


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)
AP1B1chr2229784412-HM13chr2030125981+8.03E-080.9999999
AP1B1chr2229784412-HM13chr2030125981+8.03E-080.9999999

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 AP1B1-HM13


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/:29784413/:30125982)
- 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
AP1B1

Q10567

HM13

Q8TCT9

FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes (PubMed:31630791). The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. {ECO:0000269|PubMed:31630791}.FUNCTION: Catalyzes intramembrane proteolysis of some signal peptides after they have been cleaved from a preprotein, resulting in the release of the fragment from the ER membrane into the cytoplasm. Required to generate lymphocyte cell surface (HLA-E) epitopes derived from MHC class I signal peptides (PubMed:11714810). May be necessary for the removal of the signal peptide that remains attached to the hepatitis C virus core protein after the initial proteolytic processing of the polyprotein (PubMed:12145199). Involved in the intramembrane cleavage of the integral membrane protein PSEN1 (PubMed:12077416, PubMed:11714810, PubMed:14741365). Cleaves the integral membrane protein XBP1 isoform 1 in a DERL1/RNF139-dependent manner (PubMed:25239945). May play a role in graft rejection (By similarity). {ECO:0000250|UniProtKB:Q9D8V0, ECO:0000269|PubMed:11714810, ECO:0000269|PubMed:12077416, ECO:0000269|PubMed:12145199, ECO:0000269|PubMed:14741365, ECO:0000269|PubMed:25239945}.

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 AP1B1-HM13


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 AP1B1-HM13


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 AP1B1-HM13


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 AP1B1-HM13


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