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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 1076

FusionGeneSummary for AGAP2_TMEM67

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP2_TMEM67
Fusion gene ID: 1076
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

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 date2018052320180519
UniProtAcc

Q99490

Q5HYA8

Ensembl transtripts involved in fusion geneENST00000257897, ENST00000547588, 
ENST00000453321, ENST00000409623, 
ENST00000425545, 
Fusion gene scores* DoF score6 X 5 X 3=904 X 4 X 4=64
# samples 64
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
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]

Functional or gene categories assigned by FusionGDB annotation
* 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:0042177

negative regulation of protein catabolic process

18374643


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVGBMTCGA-06-0178-01AAGAP2chr12

58123422

-TMEM67chr8

94827533

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000257897ENST00000453321AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000257897ENST00000409623AGAP2chr12

58123422

-TMEM67chr8

94827533

+
5CDS-intronENST00000257897ENST00000425545AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000547588ENST00000453321AGAP2chr12

58123422

-TMEM67chr8

94827533

+
In-frameENST00000547588ENST00000409623AGAP2chr12

58123422

-TMEM67chr8

94827533

+
5CDS-intronENST00000547588ENST00000425545AGAP2chr12

58123422

-TMEM67chr8

94827533

+

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FusionProtFeatures for AGAP2_TMEM67


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AGAP2

Q99490

TMEM67

Q5HYA8

GTPase-activating protein (GAP) for ARF1 and ARF5, whichalso shows strong GTPase activity. Isoform 1 participates in theprevention of neuronal apoptosis by enhancing PI3 kinase activity.It aids the coupling of metabotropic glutamate receptor 1 (GRM1)to cytoplasmic PI3 kinase by interacting with Homer scaffoldingproteins, and also seems to mediate anti-apoptotic effects of NGFby activating nuclear PI3 kinase. Isoform 2 does not stimulate PI3kinase but may protect cells from apoptosis by stimulating Akt. Italso regulates the adapter protein 1 (AP-1)-dependent traffickingof proteins in the endosomal system. It seems to be oncogenic. Itis overexpressed in cancer cells, prevents apoptosis and promotescancer cell invasion. {ECO:0000269|PubMed:12640130,ECO:0000269|PubMed:14761976, ECO:0000269|PubMed:15118108,ECO:0000269|PubMed:16079295}. Required for ciliary structure and function. Part of thetectonic-like complex which is required for tissue-specificciliogenesis and may regulate ciliary membrane composition (Bysimilarity). Involved in centrosome migration to the apical cellsurface during early ciliogenesis. Involved in the regulation ofcilia length and appropriate number through the control ofcentrosome duplication. Required for cell branching morphology.Essential for endoplasmic reticulum-associated degradation (ERAD)of surfactant protein C (SFTPC). {ECO:0000250,ECO:0000269|PubMed:17185389, ECO:0000269|PubMed:19515853,ECO:0000269|PubMed:19596800, ECO:0000269|PubMed:19815549}.

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_420516837Nucleotide bindingGTP
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318457_461516837Nucleotide bindingGTP
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318515_518516837Nucleotide bindingGTP
TgeneTMEM67chr12:58123422chr8:94827533ENST00000409623+2629939_959840915TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000453321+2528939_959921996TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318676_910516837DomainPH
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318931_1051516837DomainArf-GAP
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318405_572516837RegionNote=G domain
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-13181090_1119516837RepeatNote=ANK 1
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-13181123_1152516837RepeatNote=ANK 2
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318946_969516837Zinc fingerC4-type
TgeneTMEM67chr12:58123422chr8:94827533ENST00000409623+2629526_546840915TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000409623+2629570_590840915TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000409623+2629609_629840915TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000409623+2629689_709840915TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000409623+2629734_754840915TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000453321+2528526_546921996TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000453321+2528570_590921996TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000453321+2528609_629921996TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000453321+2528689_709921996TransmembraneHelical
TgeneTMEM67chr12:58123422chr8:94827533ENST00000453321+2528734_754921996TransmembraneHelical


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FusionGeneSequence for AGAP2_TMEM67


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_AGAP2_ENST00000257897_chr12_58123422_-_TMEM67_ENST00000453321_chr8_94827533_+_591aa
MHAQRQFVVAAVRAEVRRHEVAKQALNRLRKLAERVDDPELQDSIQASLDSIREAVINSQEWTLSRSIPELRLGVLGDARSGKSSLIHRF
LTGSYQVLEKTESEQYKKEMLVDGQTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQ
DRISASSPRVVGDARARALCADMKRCSYTETCATTGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGGHTS
DYSSSLPSSPNVGHRELRAEAAAVAGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNKEWK
KKTVTLSSNGFLLYHPSINDYIHSTHGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQ
PPPDQTSKHLLKPDRNLARALSTDCTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGTSFSSVLTTGNEATLLIFDLL

>In-frame_AGAP2_ENST00000257897_chr12_58123422_-_TMEM67_ENST00000409623_chr8_94827533_+_591aa
MHAQRQFVVAAVRAEVRRHEVAKQALNRLRKLAERVDDPELQDSIQASLDSIREAVINSQEWTLSRSIPELRLGVLGDARSGKSSLIHRF
LTGSYQVLEKTESEQYKKEMLVDGQTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQ
DRISASSPRVVGDARARALCADMKRCSYTETCATTGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGGHTS
DYSSSLPSSPNVGHRELRAEAAAVAGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNKEWK
KKTVTLSSNGFLLYHPSINDYIHSTHGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQ
PPPDQTSKHLLKPDRNLARALSTDCTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGTSFSSVLTTGNEATLLIFDLL

>In-frame_AGAP2_ENST00000547588_chr12_58123422_-_TMEM67_ENST00000453321_chr8_94827533_+_927aa
MSRGAGALQRRTTTYLISLTLVKLESVPPPPPSPSAAAAGAAGARGSETGDPGSPRGAEEPGKKRHERLFHRQDALWISTSSAGTGGAEP
PALSPAPASPARPVSPAPGRRLSLWAVPPGPPLSGGLSPDPKPGGAPTSSRRPLLSSPSWGGPEPEGRAGGGIPGSSSPHPGTGSRRLKV
APPPPAPKPCKTVTTSGAKAGGGKGAGSRLSWPESEGKPRVKGSKSSAGTGASVSAAATAAAAGGGGSTASTSGGVGAGAGARGKLSPRK
GKSKTLDNSDLHPGPPAGSPPPLTLPPTPSPATAVTAASAQPPGPAPPITLEPPAPGLKRGREGGRASTRDRKMLKFISGIFTKSTGGPP
GSGPLPGPPSLSSGSGSRELLGAELRASPKAVINSQEWTLSRSIPELRLGVLGDARSGKSSLIHRFLTGSYQVLEKTESEQYKKEMLVDG
QTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQDRISASSPRVVGDARARALCADMK
RCSYTETCATTGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGGHTSDYSSSLPSSPNVGHRELRAEAAAV
AGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNKEWKKKTVTLSSNGFLLYHPSINDYIHS
THGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQPPPDQTSKHLLKPDRNLARALSTD
CTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGTSFSSVLTTGNEATLLIFDLLFFCVVDLACQNFILASFLTTLQQE

>In-frame_AGAP2_ENST00000547588_chr12_58123422_-_TMEM67_ENST00000409623_chr8_94827533_+_927aa
MSRGAGALQRRTTTYLISLTLVKLESVPPPPPSPSAAAAGAAGARGSETGDPGSPRGAEEPGKKRHERLFHRQDALWISTSSAGTGGAEP
PALSPAPASPARPVSPAPGRRLSLWAVPPGPPLSGGLSPDPKPGGAPTSSRRPLLSSPSWGGPEPEGRAGGGIPGSSSPHPGTGSRRLKV
APPPPAPKPCKTVTTSGAKAGGGKGAGSRLSWPESEGKPRVKGSKSSAGTGASVSAAATAAAAGGGGSTASTSGGVGAGAGARGKLSPRK
GKSKTLDNSDLHPGPPAGSPPPLTLPPTPSPATAVTAASAQPPGPAPPITLEPPAPGLKRGREGGRASTRDRKMLKFISGIFTKSTGGPP
GSGPLPGPPSLSSGSGSRELLGAELRASPKAVINSQEWTLSRSIPELRLGVLGDARSGKSSLIHRFLTGSYQVLEKTESEQYKKEMLVDG
QTHLVLIREEAGAPDAKFSGWADAVIFVFSLEDENSFQAVSRLHGQLSSLRGEGRGGLALALVGTQDRISASSPRVVGDARARALCADMK
RCSYTETCATTGLNVDRVFQEVAQKVVTLRKQQQLLAACKSLPSSPSHSAASTPVAGQASNGGHTSDYSSSLPSSPNVGHRELRAEAAAV
AGLSTPGSLHRAAKRRTSLFANRRGSDSEKRSLDSRGETTGSGRAIPIKQSFLLKRSGNSLNKEWKKKTVTLSSNGFLLYHPSINDYIHS
THGKEMDLLRTTVKVPGKRPPRAISAFGPSASINGLVKDMSTVQMGEGLEATTPMPSPSPSPSSLQPPPDQTSKHLLKPDRNLARALSTD
CTPSGDLSPLSREPPPSPMVKKQRRKKLTTPSKTEGSAGQAEDEGTSFSSVLTTGNEATLLIFDLLFFCVVDLACQNFILASFLTTLQQE


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_AGAP2_ENST00000257897_chr12_58123422_-_TMEM67_ENST00000453321_chr8_94827533_+_1773nt
ATGCATGCCCAGAGGCAGTTCGTTGTAGCTGCAGTGAGAGCAGAAGTCAGACGACATGAGGTGGCCAAGCAGGCTCTAAACCGCCTCAGG
AAGCTGGCAGAGAGGGTGGACGACCCCGAACTCCAGGACAGCATCCAGGCCTCATTGGACAGCATTCGAGAGGCTGTGATCAATAGCCAG
GAATGGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCATCGCTCATCCACCGATTC
CTGACTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGACAGACACATCTGGTGCTA
ATCCGAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGCCTGGAGGATGAGAACAGT
TTCCAGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTGGCACTGGTGGGGACACAA
GACAGGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAACGCTGCAGCTACTATGAG
ACTTGTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGCAAGCAGCAACAGCTTCTG
GCTGCCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGTAACGGGGGCCACACTAGC
GACTACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTGGCTGGATTGAGCACCCCA
GGGTCCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAACGAAGCTTGGATAGTCGG
GGAGAGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCCTTGAACAAAGAATGGAAG
AAGAAATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGTACCCACGGCAAGGAGATG
GACTTGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCAGCCAGCATTAACGGGCTC
GTCAAGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCCAGCCCCAGTTCCCTGCAG
CCACCACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGACTGTACCCCATCTGGAGAC
CTGAGCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACACCATCCAAGACTGAAGGC
TCGGCTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCTGCTG
TTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATATCCGT

>In-frame_AGAP2_ENST00000257897_chr12_58123422_-_TMEM67_ENST00000409623_chr8_94827533_+_1773nt
ATGCATGCCCAGAGGCAGTTCGTTGTAGCTGCAGTGAGAGCAGAAGTCAGACGACATGAGGTGGCCAAGCAGGCTCTAAACCGCCTCAGG
AAGCTGGCAGAGAGGGTGGACGACCCCGAACTCCAGGACAGCATCCAGGCCTCATTGGACAGCATTCGAGAGGCTGTGATCAATAGCCAG
GAATGGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCATCGCTCATCCACCGATTC
CTGACTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGACAGACACATCTGGTGCTA
ATCCGAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGCCTGGAGGATGAGAACAGT
TTCCAGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTGGCACTGGTGGGGACACAA
GACAGGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAACGCTGCAGCTACTATGAG
ACTTGTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGCAAGCAGCAACAGCTTCTG
GCTGCCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGTAACGGGGGCCACACTAGC
GACTACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTGGCTGGATTGAGCACCCCA
GGGTCCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAACGAAGCTTGGATAGTCGG
GGAGAGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCCTTGAACAAAGAATGGAAG
AAGAAATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGTACCCACGGCAAGGAGATG
GACTTGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCAGCCAGCATTAACGGGCTC
GTCAAGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCCAGCCCCAGTTCCCTGCAG
CCACCACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGACTGTACCCCATCTGGAGAC
CTGAGCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACACCATCCAAGACTGAAGGC
TCGGCTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCTGCTG
TTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATATCCGT

>In-frame_AGAP2_ENST00000547588_chr12_58123422_-_TMEM67_ENST00000453321_chr8_94827533_+_2781nt
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

>In-frame_AGAP2_ENST00000547588_chr12_58123422_-_TMEM67_ENST00000409623_chr8_94827533_+_2781nt
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


* Fusion transcript sequences (Full-length transcript).
>In-frame_AGAP2_ENST00000257897_chr12_58123422_-_TMEM67_ENST00000453321_chr8_94827533_+_3464nt
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

>In-frame_AGAP2_ENST00000257897_chr12_58123422_-_TMEM67_ENST00000409623_chr8_94827533_+_2167nt
GGGGCCTTCTGAGGTTTGGGGGCTGTAGGGCCATGGGCCTCAGGGCCAGAGGTGGTTGTTAGCCTGGCAAGACAGGTCTGGGCAACATGC
ATGCCCAGAGGCAGTTCGTTGTAGCTGCAGTGAGAGCAGAAGTCAGACGACATGAGGTGGCCAAGCAGGCTCTAAACCGCCTCAGGAAGC
TGGCAGAGAGGGTGGACGACCCCGAACTCCAGGACAGCATCCAGGCCTCATTGGACAGCATTCGAGAGGCTGTGATCAATAGCCAGGAAT
GGACTTTGAGCCGCTCCATTCCTGAACTGCGCCTGGGTGTGCTGGGCGATGCCAGGAGTGGGAAGTCATCGCTCATCCACCGATTCCTGA
CTGGCTCATACCAGGTGCTGGAGAAGACAGAGAGTGAGCAGTACAAGAAAGAAATGTTGGTGGATGGACAGACACATCTGGTGCTAATCC
GAGAGGAAGCTGGGGCACCTGATGCCAAGTTCTCAGGCTGGGCAGATGCTGTGATCTTCGTCTTCAGCCTGGAGGATGAGAACAGTTTCC
AGGCTGTGAGCCGTCTCCATGGGCAGCTGAGTTCCCTTCGCGGGGAGGGACGAGGAGGCCTGGCCTTGGCACTGGTGGGGACACAAGACA
GGATCAGTGCTTCCTCCCCTCGGGTGGTGGGAGATGCTCGTGCCAGAGCTCTGTGCGCGGACATGAAACGCTGCAGCTACTATGAGACTT
GTGCAACCTATGGGCTCAATGTGGATCGGGTCTTCCAGGAGGTGGCCCAGAAGGTGGTGACCTTGCGCAAGCAGCAACAGCTTCTGGCTG
CCTGCAAGTCCCTGCCCAGCTCCCCAAGCCACTCAGCTGCATCCACTCCGGTAGCTGGCCAGGCTAGTAACGGGGGCCACACTAGCGACT
ACTCTTCTTCCCTCCCGTCCTCACCGAATGTTGGTCACCGGGAGCTCCGAGCCGAGGCAGCTGCAGTGGCTGGATTGAGCACCCCAGGGT
CCCTGCACCGGGCAGCCAAGCGCAGGACCAGCCTTTTTGCGAATCGTCGGGGTAGTGACTCCGAGAAACGAAGCTTGGATAGTCGGGGAG
AGACAACAGGGAGTGGGCGAGCCATCCCCATCAAACAGAGCTTCCTACTAAAACGAAGTGGCAATTCCTTGAACAAAGAATGGAAGAAGA
AATATGTAACCCTGTCCAGTAATGGCTTTCTACTCTACCACCCCAGTATTAACGATTACATCCACAGTACCCACGGCAAGGAGATGGACT
TGCTGCGAACAACAGTCAAAGTCCCGGGCAAGCGGCCCCCGAGGGCCATCTCTGCCTTTGGCCCCTCAGCCAGCATTAACGGGCTCGTCA
AGGACATGAGCACTGTCCAGATGGGTGAAGGCCTGGAAGCCACTACTCCCATGCCAAGCCCTAGCCCCAGCCCCAGTTCCCTGCAGCCAC
CACCAGATCAGACATCCAAACACCTGCTGAAGCCAGACCGGAATTTGGCCCGAGCCCTCAGCACGGACTGTACCCCATCTGGAGACCTGA
GCCCCCTGAGTCGGGAACCCCCTCCTTCTCCCATGGTGAAGAAGCAGAGGAGGAAAAAATTGACAACACCATCCAAGACTGAAGGCTCGG
CTGGGCAGGCTGAAGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCTGCTGTTCT
TCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATATCCGTAATA
CAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAATAAATAACTTAAAGACTCAGTA
TAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAGACTATTCTGTTTTTGTTTTTTA
TTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCCCATTGTGTGTAGTATTTAATGC
AGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACTTTTTAATGCTAATTAAAACAGT

>In-frame_AGAP2_ENST00000547588_chr12_58123422_-_TMEM67_ENST00000453321_chr8_94827533_+_4386nt
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

>In-frame_AGAP2_ENST00000547588_chr12_58123422_-_TMEM67_ENST00000409623_chr8_94827533_+_3089nt
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


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FusionGenePPI 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
AGAP2HOMER1, EPB41L1, PIK3R1, NF2, MPRIP, GRIP1, GRIA2, CDC42, RAC1, RAC2, RHOA, ARF1, AKT1TMEM67HSPA5, SFTPC, CD27, LYPD3, ATP1B4, PTPRK, ABCD3, AKAP1, ATP6AP1, ATP6AP2, ATP6V0A1, CAMLG, CCDC47, CKAP4, DDX54, ERLIN2, HM13, KIAA1715, MAGT1, MMP15, NSA2, PDCD11, PGRMC2, PREB, PSMC3, PSMC4, PSMC5, PSMC6, PSMD1, PSMD14, PSMD2, PSMD4, RAB2A, RPN1, SDHA, SEC11A, SLC6A8, SPCS2, SPCS3, SRPR, STT3B, TOR1AIP1, UBXN4, VMA21, BCAP31, KCNC4, EMC1, OCIAD1, EMC3, TMEM199, TOX3, EMC2, VRK2, SYNE2, SLC22A9, LYZL2, SCGB1D1, TMPRSS11B, ADAM33, DEFA1, TMEM30A, HTR3A, DEFB121, NRN1, FAM19A4, ST8SIA4, MUC1, TCTN2, CD1E, GML, CD300E, TMEM30B, SCGB1D4, SPINK4


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-13181_23516837EPB41L1
HgeneAGAP2chr12:58123422chr8:94827533ENST00000257897-1318267_390516837PLCG1


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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RelatedDrugs for AGAP2_TMEM67


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AGAP2_TMEM67


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTMEM67C1846357Meckel syndrome type 37CTD_human;UNIPROT
TgeneTMEM67C1857662COACH syndrome5CTD_human;ORPHANET;UNIPROT
TgeneTMEM67C1853153JOUBERT SYNDROME 64CTD_human;UNIPROT
TgeneTMEM67C0023890Liver Cirrhosis1CTD_human
TgeneTMEM67C0752166Bardet-Biedl Syndrome1CTD_human
TgeneTMEM67C1691228Cystic Kidney Diseases1CTD_human
TgeneTMEM67C3150796NEPHRONOPHTHISIS 111CTD_human;UNIPROT