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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:AGAP2-TMEM67 (FusionGDB2 ID:HG116986TG91147)

Fusion Gene Summary for AGAP2-TMEM67

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP2-TMEM67
Fusion gene ID: hg116986tg91147
HgeneTgene
Gene symbol

AGAP2

TMEM67

Gene ID

116986

91147

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 2transmembrane protein 67
SynonymsCENTG1|GGAP2|PIKEJBTS6|MECKELIN|MKS3|NPHP11|TNEM67
Cytomap('AGAP2')('TMEM67')

12q14.1

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 2Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 2GTP-binding and GTPase activating protein 2centaurin, gamma 1cnt-g1phosphatidylinositol 3-kinase enhancerphosphoinosimeckelinmeckel syndrome type 3 protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000257897, ENST00000547588, 
Fusion gene scores* DoF score8 X 7 X 5=2804 X 7 X 4=112
# samples 85
** MAII scorelog2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/112*10)=-1.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AGAP2 [Title/Abstract] AND TMEM67 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGAP2(58123422)-TMEM67(94827533), # samples:3
Anticipated loss of major functional domain due to fusion event.AGAP2-TMEM67 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.
AGAP2-TMEM67 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.
AGAP2-TMEM67 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.
AGAP2-TMEM67 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.
* 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
HgeneAGAP2

GO:0016197

endosomal transport

12388557

HgeneAGAP2

GO:0030036

actin cytoskeleton organization

12388557

HgeneAGAP2

GO:0042177

negative regulation of protein catabolic process

18374643

HgeneAGAP2

GO:0045860

positive regulation of protein kinase activity

14761976


check buttonFusion gene breakpoints across AGAP2 (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 TMEM67 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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-06-0178-01AAGAP2chr12

58123422

-TMEM67chr8

94827533

+


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Fusion Gene ORF analysis for AGAP2-TMEM67

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
5CDS-intronENST00000257897ENST00000425545AGAP2chr12

58123422

-TMEM67chr8

94827533

+
5CDS-intronENST00000547588ENST00000425545AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000257897ENST00000409623AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000257897ENST00000453321AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000547588ENST00000409623AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000547588ENST00000453321AGAP2chr12

58123422

-TMEM67chr8

94827533

+

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)
ENST00000257897AGAP2chr1258123422-ENST00000453321TMEM67chr894827533+34641635771858593
ENST00000257897AGAP2chr1258123422-ENST00000409623TMEM67chr894827533+21671635771858593
ENST00000547588AGAP2chr1258123422-ENST00000453321TMEM67chr894827533+4386255702780926
ENST00000547588AGAP2chr1258123422-ENST00000409623TMEM67chr894827533+3089255702780926

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
ENST00000257897ENST00000453321AGAP2chr1258123422-TMEM67chr894827533+0.0010198740.9989801
ENST00000257897ENST00000409623AGAP2chr1258123422-TMEM67chr894827533+0.0058116170.9941884
ENST00000547588ENST00000453321AGAP2chr1258123422-TMEM67chr894827533+0.0014919020.99850804
ENST00000547588ENST00000409623AGAP2chr1258123422-TMEM67chr894827533+0.004929780.9950702

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Fusion Genomic Features for AGAP2-TMEM67


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)
AGAP2chr1258123421-TMEM67chr894827532+0.0027568340.99724317
AGAP2chr1258123421-TMEM67chr894827532+0.0027568340.99724317

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.
genomic feature

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 AGAP2-TMEM67


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/chr12:58123422/chr8:94827533)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318413_420516837.0Nucleotide bindingGTP
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318457_461516837.0Nucleotide bindingGTP
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318515_518516837.0Nucleotide bindingGTP
TgeneTMEM67chr12:58123422chr8:94827533ENST000004096232629939_959840915.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004533212528939_959921996.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318676_910516837.0DomainPH
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318931_1051516837.0DomainArf-GAP
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318405_572516837.0RegionNote=G domain
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-13181090_1119516837.0RepeatNote=ANK 1
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-13181123_1152516837.0RepeatNote=ANK 2
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318946_969516837.0Zinc fingerC4-type
TgeneTMEM67chr12:58123422chr8:94827533ENST000004096232629526_546840915.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004096232629570_590840915.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004096232629609_629840915.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004096232629689_709840915.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004096232629734_754840915.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004533212528526_546921996.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004533212528570_590921996.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004533212528609_629921996.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004533212528689_709921996.0TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST000004533212528734_754921996.0TransmembraneHelical


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Fusion Gene Sequence for AGAP2-TMEM67


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.
>2812_2812_1_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000257897_TMEM67_chr8_94827533_ENST00000409623_length(transcript)=2167nt_BP=1635nt
GGGGCCTTCTGAGGTTTGGGGGCTGTAGGGCCATGGGCCTCAGGGCCAGAGGTGGTTGTTAGCCTGGCAAGACAGGTCTGGGCAACATGC
ATGCCCAGAGGCAGTTCGTTGTAGCTGCAGTGAGAGCAGAAGTCAGACGACATGAGGTGGCCAAGCAGGCTCTAAACCGCCTCAGGAAGC
TGGCAGAGAGGGTGGACGACCCCGAACTCCAGGACAGCATCCAGGCCTCATTGGACAGCATTCGAGAGGCTGTGATCAATAGCCAGGAAT
GGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCATCGCTCATCCACCGATTCCTGA
CTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGACAGACACATCTGGTGCTAATCC
GAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGCCTGGAGGATGAGAACAGTTTCC
AGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTGGCACTGGTGGGGACACAAGACA
GGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAACGCTGCAGCTACTATGAGACTT
GTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGCAAGCAGCAACAGCTTCTGGCTG
CCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGTAACGGGGGCCACACTAGCGACT
ACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTGGCTGGATTGAGCACCCCAGGGT
CCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAACGAAGCTTGGATAGTCGGGGAG
AGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCCTTGAACAAAGAATGGAAGAAGA
AATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGTACCCACGGCAAGGAGATGGACT
TGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCAGCCAGCATTAACGGGCTCGTCA
AGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCCAGCCCCAGTTCCCTGCAGCCAC
CACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGACTGTACCCCATCTGGAGACCTGA
GCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACACCATCCAAGACTGAAGGCTCGG
CTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCTGCTGTTCT
TCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATATCCGTAATA
CAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAATAAATAACTTAAAGACTCAGTA
TAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAGACTATTCTGTTTTTGTTTTTTA
TTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCCCATTGTGTGTAGTATTTAATGC
AGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACTTTTTAATGCTAATTAAAACAGT

>2812_2812_1_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000257897_TMEM67_chr8_94827533_ENST00000409623_length(amino acids)=593AA_BP=519
MGNMHAQRQFVVAAVRAEVRRHEVAKQALNRLRKLAERVDDPELQDSIQASLDSIREAVINSQEWTLSRSIPELRLGVLGDARSGKSSLI
HRFLTGSYQVLEKTESEQYKKEMLVDGQTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALV
GTQDRISASSPRVVGDARARALCADMKRCSYYETCATYGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGG
HTSDYSSSLPSSPNVGHRELRAEAAAVAGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNK
EWKKKYVTLSSNGFLLYHPSINDYIHSTHGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPS
SLQPPPDQTSKHLLKPDRNLARALSTDCTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGYSFSSVLYYGNEATLLIF

--------------------------------------------------------------
>2812_2812_2_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000257897_TMEM67_chr8_94827533_ENST00000453321_length(transcript)=3464nt_BP=1635nt
GGGGCCTTCTGAGGTTTGGGGGCTGTAGGGCCATGGGCCTCAGGGCCAGAGGTGGTTGTTAGCCTGGCAAGACAGGTCTGGGCAACATGC
ATGCCCAGAGGCAGTTCGTTGTAGCTGCAGTGAGAGCAGAAGTCAGACGACATGAGGTGGCCAAGCAGGCTCTAAACCGCCTCAGGAAGC
TGGCAGAGAGGGTGGACGACCCCGAACTCCAGGACAGCATCCAGGCCTCATTGGACAGCATTCGAGAGGCTGTGATCAATAGCCAGGAAT
GGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCATCGCTCATCCACCGATTCCTGA
CTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGACAGACACATCTGGTGCTAATCC
GAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGCCTGGAGGATGAGAACAGTTTCC
AGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTGGCACTGGTGGGGACACAAGACA
GGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAACGCTGCAGCTACTATGAGACTT
GTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGCAAGCAGCAACAGCTTCTGGCTG
CCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGTAACGGGGGCCACACTAGCGACT
ACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTGGCTGGATTGAGCACCCCAGGGT
CCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAACGAAGCTTGGATAGTCGGGGAG
AGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCCTTGAACAAAGAATGGAAGAAGA
AATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGTACCCACGGCAAGGAGATGGACT
TGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCAGCCAGCATTAACGGGCTCGTCA
AGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCCAGCCCCAGTTCCCTGCAGCCAC
CACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGACTGTACCCCATCTGGAGACCTGA
GCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACACCATCCAAGACTGAAGGCTCGG
CTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCTGCTGTTCT
TCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATATCCGTAATA
CAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAATAAATAACTTAAAGACTCAGTA
TAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAGACTATTCTGTTTTTGTTTTTTA
TTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCCCATTGTGTGTAGTATTTAATGC
AGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACTTTTTAATGCTAATTAAAACAGT
CCCCATCATTTGTCTCTGTAGATTATTTTATAAACTGAGAGCTGCCTGAATCTTCTCACATTGACAAAGTAATTTGATTCCAAGTTTAAG
ACTAGTTTTCAGTTTGATATTTTCATGTTTTGTGTGCTTATGGTTAAATAAATGTTGAAAGATATTTTCAAGTTTACTTAGAAATTTTAA
ATTGTATTATTGCTGATTCAATTTGCATCATTCTAATTGCTCATCCTCTTTGGCAGTGGATTAATTCACTGTTGGGTTAATATGCATCTC
ATGAAATGATATCTTTTCATTCCTTTGTATACCTGTATTAGGTCAGTATACGCTTTCCATGAAATATATTTGCATTTCTAATATAGTTTA
CATTTATTAAGTTATAACGTATGACATTTTTCCCAATATCATTTTTTATACATTTTAATTACTTAATGTTTTAAGAGTTCTCTTCCAGAG
TTTTGCTTTTCAATTACGTTTAAAGACTGTAAATAACAAACAGTAAGGCTGGGCGCTGTGGCTTACGCCTGTAATCCCAGCACTTTGGAA
GGCCAAGGCACGTGGATCACTTTAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGAAAACCCCATCTCTACAAAAAATACAAAAATT
AGTTGGATGTGGTGGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCATGAGAATAGCTTGAAACCAGGAGGTGGAGGCTGTAGTGAGCC
AGATAGCACCACTGCACTCCAGCCAGGATGACAGAGCAAGACCCTGTCTCAGAAAAAACAAAAACAAAACACTGTAAATGTATCATGTTT
CTCACTGCTTTCTATGTTAATGCTGTGTAAATACTTAAAATGGAATACTGTATAAATATTATTTATATTTTCTCAGATGAAAATATATAC
TAAAACATTTGGTATTTCTGTTTTCTGTTTCATTAATGTATATCTGATGGAGTACCATTTAGGAATATAACATTATTGGGGCAGAGGTCC
CAGCCATTGCCAAAGTTGAATCTTTTACATTTCCCTGAATCTTGAGGATGACTGAAAAGGAAGTCTTTGAAACTGCAGTTTCTGAAGGAT
CACAGTACAGGAATGCCTTTATAAAAGCTGCAGAGATAAATACATGTACTTATATGGCATGGATATTTAAAACCACTCACTCAGAAGCAT
ATGAAAGAAATTCAACCATCATTCAACATAGAAGAAGTTAATTTTAGTGCAAAAGTTTTTAAGTATTAAATTTCACAATAAAGGATCAAT

>2812_2812_2_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000257897_TMEM67_chr8_94827533_ENST00000453321_length(amino acids)=593AA_BP=519
MGNMHAQRQFVVAAVRAEVRRHEVAKQALNRLRKLAERVDDPELQDSIQASLDSIREAVINSQEWTLSRSIPELRLGVLGDARSGKSSLI
HRFLTGSYQVLEKTESEQYKKEMLVDGQTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALV
GTQDRISASSPRVVGDARARALCADMKRCSYYETCATYGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGG
HTSDYSSSLPSSPNVGHRELRAEAAAVAGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNK
EWKKKYVTLSSNGFLLYHPSINDYIHSTHGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPS
SLQPPPDQTSKHLLKPDRNLARALSTDCTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGYSFSSVLYYGNEATLLIF

--------------------------------------------------------------
>2812_2812_3_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000547588_TMEM67_chr8_94827533_ENST00000409623_length(transcript)=3089nt_BP=2557nt
ATGAGCCGGGGCGCGGGCGCGCTTCAGCGCCGGACAACGACCTACCTCATCTCGCTGACCCTGGTTAAGCTCGAGTCGGTGCCTCCGCCG
CCGCCTTCTCCGTCTGCGGCCGCGGCCGGCGCCGCCGGTGCCAGAGGCTCCGAGACTGGGGATCCTGGCAGCCCCCGAGGCGCGGAGGAG
CCGGGCAAGAAGCGGCACGAACGTCTCTTCCACCGGCAGGATGCGCTGTGGATCAGCACGAGCAGCGCGGGCACCGGGGGCGCGGAGCCC
CCAGCCCTGTCCCCGGCTCCGGCCAGTCCGGCCCGCCCAGTCTCCCCCGCTCCCGGCCGCCGCCTCTCCCTCTGGGCCGTCCCTCCGGGA
CCCCCGCTCTCCGGGGGACTGAGCCCCGACCCCAAGCCTGGGGGCGCCCCCACCTCCTCCCGGCGCCCCCTGCTCAGCAGCCCGAGCTGG
GGCGGCCCGGAGCCCGAAGGCCGGGCGGGCGGCGGCATCCCTGGCTCATCCTCTCCGCACCCTGGCACCGGCAGCCGGAGGCTCAAGGTG
GCGCCTCCTCCGCCGGCTCCCAAGCCTTGCAAGACCGTGACCACGAGTGGAGCCAAAGCCGGCGGGGGCAAGGGCGCGGGTAGCCGCCTG
TCATGGCCCGAAAGCGAGGGCAAGCCCAGGGTCAAGGGGTCAAAGAGCAGCGCCGGGACTGGAGCTTCGGTCTCTGCCGCCGCCACCGCC
GCCGCCGCCGGGGGAGGGGGCTCTACAGCTTCGACCTCTGGTGGGGTCGGGGCTGGGGCTGGAGCCCGAGGGAAGTTGTCCCCTCGGAAA
GGCAAGAGTAAGACCTTGGACAACAGTGACTTGCATCCGGGACCGCCTGCCGGCTCTCCTCCTCCGCTAACCCTCCCACCAACTCCGAGT
CCAGCCACTGCTGTCACCGCTGCTTCCGCGCAGCCCCCCGGGCCTGCACCTCCAATCACTCTGGAGCCTCCAGCTCCGGGGCTGAAACGG
GGCCGGGAGGGGGGCCGAGCATCCACTCGTGACCGCAAGATGCTCAAGTTTATCAGCGGCATCTTCACCAAGAGCACAGGAGGGCCTCCT
GGCTCCGGGCCCCTTCCCGGACCCCCCAGCCTGTCTTCTGGCAGCGGGTCCAGGGAGCTGCTGGGCGCCGAGCTCCGCGCTTCCCCTAAG
GCTGTGATCAATAGCCAGGAATGGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCA
TCGCTCATCCACCGATTCCTGACTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGA
CAGACACATCTGGTGCTAATCCGAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGC
CTGGAGGATGAGAACAGTTTCCAGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTG
GCACTGGTGGGGACACAAGACAGGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAA
CGCTGCAGCTACTATGAGACTTGTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGC
AAGCAGCAACAGCTTCTGGCTGCCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGT
AACGGGGGCCACACTAGCGACTACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTG
GCTGGATTGAGCACCCCAGGGTCCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAA
CGAAGCTTGGATAGTCGGGGAGAGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCC
TTGAACAAAGAATGGAAGAAGAAATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGT
ACCCACGGCAAGGAGATGGACTTGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCA
GCCAGCATTAACGGGCTCGTCAAGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCC
AGCCCCAGTTCCCTGCAGCCACCACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGAC
TGTACCCCATCTGGAGACCTGAGCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACA
CCATCCAAGACTGAAGGCTCGGCTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTT
CTTATTTTTGATCTGCTGTTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAG
ATTTTTAGATATATCCGTAATACAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAA
TAAATAACTTAAAGACTCAGTATAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAG
ACTATTCTGTTTTTGTTTTTTATTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCC
CATTGTGTGTAGTATTTAATGCAGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACT

>2812_2812_3_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000547588_TMEM67_chr8_94827533_ENST00000409623_length(amino acids)=926AA_BP=852
MSRGAGALQRRTTTYLISLTLVKLESVPPPPPSPSAAAAGAAGARGSETGDPGSPRGAEEPGKKRHERLFHRQDALWISTSSAGTGGAEP
PALSPAPASPARPVSPAPGRRLSLWAVPPGPPLSGGLSPDPKPGGAPTSSRRPLLSSPSWGGPEPEGRAGGGIPGSSSPHPGTGSRRLKV
APPPPAPKPCKTVTTSGAKAGGGKGAGSRLSWPESEGKPRVKGSKSSAGTGASVSAAATAAAAGGGGSTASTSGGVGAGAGARGKLSPRK
GKSKTLDNSDLHPGPPAGSPPPLTLPPTPSPATAVTAASAQPPGPAPPITLEPPAPGLKRGREGGRASTRDRKMLKFISGIFTKSTGGPP
GSGPLPGPPSLSSGSGSRELLGAELRASPKAVINSQEWTLSRSIPELRLGVLGDARSGKSSLIHRFLTGSYQVLEKTESEQYKKEMLVDG
QTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQDRISASSPRVVGDARARALCADMK
RCSYYETCATYGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGGHTSDYSSSLPSSPNVGHRELRAEAAAV
AGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNKEWKKKYVTLSSNGFLLYHPSINDYIHS
THGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQPPPDQTSKHLLKPDRNLARALSTD
CTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQE

--------------------------------------------------------------
>2812_2812_4_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000547588_TMEM67_chr8_94827533_ENST00000453321_length(transcript)=4386nt_BP=2557nt
ATGAGCCGGGGCGCGGGCGCGCTTCAGCGCCGGACAACGACCTACCTCATCTCGCTGACCCTGGTTAAGCTCGAGTCGGTGCCTCCGCCG
CCGCCTTCTCCGTCTGCGGCCGCGGCCGGCGCCGCCGGTGCCAGAGGCTCCGAGACTGGGGATCCTGGCAGCCCCCGAGGCGCGGAGGAG
CCGGGCAAGAAGCGGCACGAACGTCTCTTCCACCGGCAGGATGCGCTGTGGATCAGCACGAGCAGCGCGGGCACCGGGGGCGCGGAGCCC
CCAGCCCTGTCCCCGGCTCCGGCCAGTCCGGCCCGCCCAGTCTCCCCCGCTCCCGGCCGCCGCCTCTCCCTCTGGGCCGTCCCTCCGGGA
CCCCCGCTCTCCGGGGGACTGAGCCCCGACCCCAAGCCTGGGGGCGCCCCCACCTCCTCCCGGCGCCCCCTGCTCAGCAGCCCGAGCTGG
GGCGGCCCGGAGCCCGAAGGCCGGGCGGGCGGCGGCATCCCTGGCTCATCCTCTCCGCACCCTGGCACCGGCAGCCGGAGGCTCAAGGTG
GCGCCTCCTCCGCCGGCTCCCAAGCCTTGCAAGACCGTGACCACGAGTGGAGCCAAAGCCGGCGGGGGCAAGGGCGCGGGTAGCCGCCTG
TCATGGCCCGAAAGCGAGGGCAAGCCCAGGGTCAAGGGGTCAAAGAGCAGCGCCGGGACTGGAGCTTCGGTCTCTGCCGCCGCCACCGCC
GCCGCCGCCGGGGGAGGGGGCTCTACAGCTTCGACCTCTGGTGGGGTCGGGGCTGGGGCTGGAGCCCGAGGGAAGTTGTCCCCTCGGAAA
GGCAAGAGTAAGACCTTGGACAACAGTGACTTGCATCCGGGACCGCCTGCCGGCTCTCCTCCTCCGCTAACCCTCCCACCAACTCCGAGT
CCAGCCACTGCTGTCACCGCTGCTTCCGCGCAGCCCCCCGGGCCTGCACCTCCAATCACTCTGGAGCCTCCAGCTCCGGGGCTGAAACGG
GGCCGGGAGGGGGGCCGAGCATCCACTCGTGACCGCAAGATGCTCAAGTTTATCAGCGGCATCTTCACCAAGAGCACAGGAGGGCCTCCT
GGCTCCGGGCCCCTTCCCGGACCCCCCAGCCTGTCTTCTGGCAGCGGGTCCAGGGAGCTGCTGGGCGCCGAGCTCCGCGCTTCCCCTAAG
GCTGTGATCAATAGCCAGGAATGGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCA
TCGCTCATCCACCGATTCCTGACTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGA
CAGACACATCTGGTGCTAATCCGAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGC
CTGGAGGATGAGAACAGTTTCCAGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTG
GCACTGGTGGGGACACAAGACAGGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAA
CGCTGCAGCTACTATGAGACTTGTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGC
AAGCAGCAACAGCTTCTGGCTGCCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGT
AACGGGGGCCACACTAGCGACTACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTG
GCTGGATTGAGCACCCCAGGGTCCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAA
CGAAGCTTGGATAGTCGGGGAGAGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCC
TTGAACAAAGAATGGAAGAAGAAATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGT
ACCCACGGCAAGGAGATGGACTTGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCA
GCCAGCATTAACGGGCTCGTCAAGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCC
AGCCCCAGTTCCCTGCAGCCACCACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGAC
TGTACCCCATCTGGAGACCTGAGCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACA
CCATCCAAGACTGAAGGCTCGGCTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTT
CTTATTTTTGATCTGCTGTTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAG
ATTTTTAGATATATCCGTAATACAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAA
TAAATAACTTAAAGACTCAGTATAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAG
ACTATTCTGTTTTTGTTTTTTATTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCC
CATTGTGTGTAGTATTTAATGCAGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACT
TTTTAATGCTAATTAAAACAGTCCCCATCATTTGTCTCTGTAGATTATTTTATAAACTGAGAGCTGCCTGAATCTTCTCACATTGACAAA
GTAATTTGATTCCAAGTTTAAGACTAGTTTTCAGTTTGATATTTTCATGTTTTGTGTGCTTATGGTTAAATAAATGTTGAAAGATATTTT
CAAGTTTACTTAGAAATTTTAAATTGTATTATTGCTGATTCAATTTGCATCATTCTAATTGCTCATCCTCTTTGGCAGTGGATTAATTCA
CTGTTGGGTTAATATGCATCTCATGAAATGATATCTTTTCATTCCTTTGTATACCTGTATTAGGTCAGTATACGCTTTCCATGAAATATA
TTTGCATTTCTAATATAGTTTACATTTATTAAGTTATAACGTATGACATTTTTCCCAATATCATTTTTTATACATTTTAATTACTTAATG
TTTTAAGAGTTCTCTTCCAGAGTTTTGCTTTTCAATTACGTTTAAAGACTGTAAATAACAAACAGTAAGGCTGGGCGCTGTGGCTTACGC
CTGTAATCCCAGCACTTTGGAAGGCCAAGGCACGTGGATCACTTTAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGAAAACCCCAT
CTCTACAAAAAATACAAAAATTAGTTGGATGTGGTGGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCATGAGAATAGCTTGAAACCAG
GAGGTGGAGGCTGTAGTGAGCCAGATAGCACCACTGCACTCCAGCCAGGATGACAGAGCAAGACCCTGTCTCAGAAAAAACAAAAACAAA
ACACTGTAAATGTATCATGTTTCTCACTGCTTTCTATGTTAATGCTGTGTAAATACTTAAAATGGAATACTGTATAAATATTATTTATAT
TTTCTCAGATGAAAATATATACTAAAACATTTGGTATTTCTGTTTTCTGTTTCATTAATGTATATCTGATGGAGTACCATTTAGGAATAT
AACATTATTGGGGCAGAGGTCCCAGCCATTGCCAAAGTTGAATCTTTTACATTTCCCTGAATCTTGAGGATGACTGAAAAGGAAGTCTTT
GAAACTGCAGTTTCTGAAGGATCACAGTACAGGAATGCCTTTATAAAAGCTGCAGAGATAAATACATGTACTTATATGGCATGGATATTT
AAAACCACTCACTCAGAAGCATATGAAAGAAATTCAACCATCATTCAACATAGAAGAAGTTAATTTTAGTGCAAAAGTTTTTAAGTATTA

>2812_2812_4_AGAP2-TMEM67_AGAP2_chr12_58123422_ENST00000547588_TMEM67_chr8_94827533_ENST00000453321_length(amino acids)=926AA_BP=852
MSRGAGALQRRTTTYLISLTLVKLESVPPPPPSPSAAAAGAAGARGSETGDPGSPRGAEEPGKKRHERLFHRQDALWISTSSAGTGGAEP
PALSPAPASPARPVSPAPGRRLSLWAVPPGPPLSGGLSPDPKPGGAPTSSRRPLLSSPSWGGPEPEGRAGGGIPGSSSPHPGTGSRRLKV
APPPPAPKPCKTVTTSGAKAGGGKGAGSRLSWPESEGKPRVKGSKSSAGTGASVSAAATAAAAGGGGSTASTSGGVGAGAGARGKLSPRK
GKSKTLDNSDLHPGPPAGSPPPLTLPPTPSPATAVTAASAQPPGPAPPITLEPPAPGLKRGREGGRASTRDRKMLKFISGIFTKSTGGPP
GSGPLPGPPSLSSGSGSRELLGAELRASPKAVINSQEWTLSRSIPELRLGVLGDARSGKSSLIHRFLTGSYQVLEKTESEQYKKEMLVDG
QTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQDRISASSPRVVGDARARALCADMK
RCSYYETCATYGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGGHTSDYSSSLPSSPNVGHRELRAEAAAV
AGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNKEWKKKYVTLSSNGFLLYHPSINDYIHS
THGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQPPPDQTSKHLLKPDRNLARALSTD
CTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQE

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

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Fusion Gene PPI Analysis for AGAP2-TMEM67


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
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-13181_23516.3333333333334837.0EPB41L1
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318267_390516.3333333333334837.0PLCG1


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 AGAP2-TMEM67


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 AGAP2-TMEM67


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1846357Meckel syndrome type 311CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1857662COACH syndrome11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1853153JOUBERT SYNDROME 610CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3150796NEPHRONOPHTHISIS 117CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0431399Familial aplasia of the vermis5GENOMICS_ENGLAND;ORPHANET
TgeneC0687120Nephronophthisis4GENOMICS_ENGLAND
TgeneC3714506Meckel syndrome type 14GENOMICS_ENGLAND
TgeneC0265215Meckel-Gruber syndrome3ORPHANET
TgeneC2673874BARDET-BIEDL SYNDROME 14 (disorder)3CTD_human;GENOMICS_ENGLAND
TgeneC0009714Hepatic Fibrosis, Congenital2GENOMICS_ENGLAND
TgeneC0022679Cystic kidney1CTD_human
TgeneC0023890Liver Cirrhosis1CTD_human
TgeneC0239946Fibrosis, Liver1CTD_human
TgeneC0752166Bardet-Biedl Syndrome1CTD_human
TgeneC1691228Cystic Kidney Diseases1CTD_human
TgeneC1865794RHYNS syndrome1GENOMICS_ENGLAND;UNIPROT
TgeneC4551568Joubert syndrome 11ORPHANET