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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:FAM134C-AP2B1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: FAM134C-AP2B1
	FusionPDB ID: 28501
	FusionGDB2.0 ID: 28501
		Hgene	Tgene
	Gene symbol	FAM134C	AP2B1
	Gene ID	162427	163
	Gene name	reticulophagy regulator family member 3	adaptor related protein complex 2 subunit beta 1
	Synonyms	FAM134C	ADTB2\|AP105B\|AP2-BETA\|CLAPB1
	Cytomap	17q21.2	17q12
	Type of gene	protein-coding	protein-coding
	Description	reticulophagy regulator 3family with sequence similarity 134 member Cprotein FAM134C	AP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor related protein complex 2 beta 1 subunitadaptor-related prote
	Modification date	20200327	20200327
	UniProtAcc	.	P63010
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000309428, ENST00000585894, ENST00000543197,	ENST00000545922, ENST00000262325, ENST00000312678, ENST00000537622, ENST00000538556, ENST00000589344, ENST00000592545,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	10 X 11 X 6=660	14 X 18 X 9=2268
	# samples	13	19
	** MAII score	log2(13/660*10)=-2.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(19/2268*10)=-3.57734931661128 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: FAM134C [Title/Abstract] AND AP2B1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	FAM134C(40738783)-AP2B1(34001195), # samples:3
Anticipated loss of major functional domain due to fusion event.	FAM134C-AP2B1 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. FAM134C-AP2B1 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. FAM134C-AP2B1 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. FAM134C-AP2B1 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. FAM134C-AP2B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. FAM134C-AP2B1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	AP2B1	GO:0072583	clathrin-dependent endocytosis	23676497

Fusion gene breakpoints across FAM134C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across AP2B1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	ESCA	TCGA-L5-A8NH-01A	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+
ChimerDB4	ESCA	TCGA-L5-A8NH	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+
ChimerDB4	ESCA	TCGA-L5-A8NH	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000309428	FAM134C	chr17	40738783	-	ENST00000262325	AP2B1	chr17	34001195	+	3960	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738783	-	ENST00000592545	AP2B1	chr17	34001195	+	1629	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738783	-	ENST00000538556	AP2B1	chr17	34001195	+	1629	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738783	-	ENST00000312678	AP2B1	chr17	34001195	+	1918	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738783	-	ENST00000589344	AP2B1	chr17	34001195	+	1308	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738783	-	ENST00000537622	AP2B1	chr17	34001195	+	1632	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738782	-	ENST00000262325	AP2B1	chr17	34001194	+	3960	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738782	-	ENST00000592545	AP2B1	chr17	34001194	+	1629	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738782	-	ENST00000538556	AP2B1	chr17	34001194	+	1629	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738782	-	ENST00000312678	AP2B1	chr17	34001194	+	1918	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738782	-	ENST00000589344	AP2B1	chr17	34001194	+	1308	564	18	1241	407
ENST00000309428	FAM134C	chr17	40738782	-	ENST00000537622	AP2B1	chr17	34001194	+	1632	564	18	1241	407

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000309428	ENST00000262325	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+	0.001718416	0.9982816
ENST00000309428	ENST00000592545	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+	0.002621119	0.99737895
ENST00000309428	ENST00000538556	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+	0.002621119	0.99737895
ENST00000309428	ENST00000312678	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+	0.002002878	0.9979971
ENST00000309428	ENST00000589344	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+	0.002707304	0.9972927
ENST00000309428	ENST00000537622	FAM134C	chr17	40738783	-	AP2B1	chr17	34001195	+	0.002590328	0.99740964
ENST00000309428	ENST00000262325	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+	0.001718416	0.9982816
ENST00000309428	ENST00000592545	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+	0.002621119	0.99737895
ENST00000309428	ENST00000538556	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+	0.002621119	0.99737895
ENST00000309428	ENST00000312678	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+	0.002002878	0.9979971
ENST00000309428	ENST00000589344	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+	0.002707304	0.9972927
ENST00000309428	ENST00000537622	FAM134C	chr17	40738782	-	AP2B1	chr17	34001194	+	0.002590328	0.99740964

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Fusion Amino Acid Sequences

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

>28501_28501_1_FAM134C-AP2B1_FAM134C_chr17_40738782_ENST00000309428_AP2B1_chr17_34001194_ENST00000262325_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_2_FAM134C-AP2B1_FAM134C_chr17_40738782_ENST00000309428_AP2B1_chr17_34001194_ENST00000312678_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_3_FAM134C-AP2B1_FAM134C_chr17_40738782_ENST00000309428_AP2B1_chr17_34001194_ENST00000537622_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_4_FAM134C-AP2B1_FAM134C_chr17_40738782_ENST00000309428_AP2B1_chr17_34001194_ENST00000538556_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_5_FAM134C-AP2B1_FAM134C_chr17_40738782_ENST00000309428_AP2B1_chr17_34001194_ENST00000589344_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_6_FAM134C-AP2B1_FAM134C_chr17_40738782_ENST00000309428_AP2B1_chr17_34001194_ENST00000592545_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_7_FAM134C-AP2B1_FAM134C_chr17_40738783_ENST00000309428_AP2B1_chr17_34001195_ENST00000262325_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_8_FAM134C-AP2B1_FAM134C_chr17_40738783_ENST00000309428_AP2B1_chr17_34001195_ENST00000312678_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_9_FAM134C-AP2B1_FAM134C_chr17_40738783_ENST00000309428_AP2B1_chr17_34001195_ENST00000537622_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_10_FAM134C-AP2B1_FAM134C_chr17_40738783_ENST00000309428_AP2B1_chr17_34001195_ENST00000538556_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_11_FAM134C-AP2B1_FAM134C_chr17_40738783_ENST00000309428_AP2B1_chr17_34001195_ENST00000589344_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

>28501_28501_12_FAM134C-AP2B1_FAM134C_chr17_40738783_ENST00000309428_AP2B1_chr17_34001195_ENST00000592545_length(amino acids)=407AA_BP=182
MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN
AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP
GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL
NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:40738783/chr17:34001195)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	AP2B1 P63010
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.	FUNCTION: Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly. {ECO:0000269\|PubMed:14745134, ECO:0000269\|PubMed:14985334, ECO:0000269\|PubMed:15473838, ECO:0000269\|PubMed:19033387, ECO:0000269\|PubMed:23676497}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

FAM134C

chr17:40738782

chr17:34001194

ENST00000309428

81_101

168.0

467.0

Transmembrane

Helical

Hgene

FAM134C

chr17:40738783

chr17:34001195

ENST00000309428

81_101

168.0

467.0

Transmembrane

Helical

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

FAM134C

chr17:40738782

chr17:34001194

ENST00000309428

445_450

168.0

467.0

Motif

LIR motif

Hgene

FAM134C

chr17:40738783

chr17:34001195

ENST00000309428

445_450

168.0

467.0

Motif

LIR motif

Hgene

FAM134C

chr17:40738782

chr17:34001194

ENST00000309428

164_184

168.0

467.0

Transmembrane

Helical

Hgene

FAM134C

chr17:40738782

chr17:34001194

ENST00000309428

187_207

168.0

467.0

Transmembrane

Helical

Hgene

FAM134C

chr17:40738783

chr17:34001195

ENST00000309428

164_184

168.0

467.0

Transmembrane

Helical

Hgene

FAM134C

chr17:40738783

chr17:34001195

ENST00000309428

187_207

168.0

467.0

Transmembrane

Helical

Tgene

AP2B1

chr17:40738782

chr17:34001194

ENST00000262325

576_716

712.0

938.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738782

chr17:34001194

ENST00000312678

576_716

726.0

952.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738782

chr17:34001194

ENST00000537622

576_716

726.0

952.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738782

chr17:34001194

ENST00000538556

576_716

655.0

881.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738782

chr17:34001194

ENST00000589344

576_716

726.0

952.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738783

chr17:34001195

ENST00000262325

576_716

712.0

938.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738783

chr17:34001195

ENST00000312678

576_716

726.0

952.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738783

chr17:34001195

ENST00000537622

576_716

726.0

952.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738783

chr17:34001195

ENST00000538556

576_716

655.0

881.0

Compositional bias

Note=Pro-rich (stalk region)

Tgene

AP2B1

chr17:40738783

chr17:34001195

ENST00000589344

576_716

726.0

952.0

Compositional bias

Note=Pro-rich (stalk region)

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>824_FAM134C_40738783_AP2B1_34001195_ranked_0.pdb	FAM134C	40738782	40738783	ENST00000537622	AP2B1	chr17	34001195	+	MSGHGPGCCGCRGEMAEAEGVPTTPGPASGSTFRGRRDVSGSWERDQQVEAAQRALVEVLGPYEPLLSRVQAALVWERPARSALWCLGLN AAFWFFALTSLRLVFLLAFGLMIIVCIDQWKNKIWPEIKVPRPDALDNESWGFVHPRLLSVPELCHHVAEVWVSGTIFIRNVLLFKKQNP GKVWLPAVKAKGLEISGTFTHRQGHIYMEMNFTNKALQHMTDFAIQFNKNSFGVIPSTPLAIHTPLMPNQSIDVSLPLNTLGPVMKMEPL NNLQVAVKNNIDVFYFSCLIPLNVLFVEDGKMERQVFLATWKDIPNENELQFQIKECHLNADTVSSKLQNNNVYTIAKRNVEGQDMLYQS	407

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

AP2B1_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
FAM134C
AP2B1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to FAM134C-AP2B1

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to FAM134C-AP2B1

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source