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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:AHI1-C12orf50 (FusionGDB2 ID:3091)

Fusion Gene Summary for AHI1-C12orf50

check button Fusion gene summary
Fusion gene informationFusion gene name: AHI1-C12orf50
Fusion gene ID: 3091
HgeneTgene
Gene symbol

AHI1

C12orf50

Gene ID

54806

160419

Gene nameAbelson helper integration site 1chromosome 12 open reading frame 50
SynonymsAHI-1|JBTS3|ORF1|dJ71N10.1-
Cytomap

6q23.3

12q21.32

Type of geneprotein-codingprotein-coding
Descriptionjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domainsuncharacterized protein C12orf50
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000327035, ENST00000367800, 
ENST00000417892, ENST00000457866, 
ENST00000367798, ENST00000488690, 
ENST00000528103, ENST00000531527, 
ENST00000534469, 		ENST00000546547, 
ENST00000298699, ENST00000550553, 
Fusion gene scores* DoF score10 X 11 X 6=6602 X 2 X 2=8
# samples 102
** MAII scorelog2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: AHI1 [Title/Abstract] AND C12orf50 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHI1(135748305)-C12orf50(88388520), # samples:3
Anticipated loss of major functional domain due to fusion event.AHI1-C12orf50 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AHI1-C12orf50 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across AHI1 (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 C12orf50 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SKCMTCGA-BF-A1Q0-01AAHI1chr6

135748305

-C12orf50chr12

88388520

-


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Fusion Gene ORF analysis for AHI1-C12orf50

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-intronENST00000327035ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
5CDS-intronENST00000367800ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
5CDS-intronENST00000417892ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
5CDS-intronENST00000457866ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
Frame-shiftENST00000367800ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
Frame-shiftENST00000367800ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
Frame-shiftENST00000417892ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
Frame-shiftENST00000417892ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
In-frameENST00000327035ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
In-frameENST00000327035ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
In-frameENST00000457866ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
In-frameENST00000457866ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000367798ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000367798ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000488690ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000488690ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000528103ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000528103ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000531527ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000531527ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000534469ENST00000298699AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-3CDSENST00000534469ENST00000550553AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-intronENST00000367798ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-intronENST00000488690ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-intronENST00000528103ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-intronENST00000531527ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-
intron-intronENST00000534469ENST00000546547AHI1chr6

135748305

-C12orf50chr12

88388520

-

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)
ENST00000457866AHI1chr6135748305-ENST00000298699C12orf50chr1288388520-4119306329938261175
ENST00000457866AHI1chr6135748305-ENST00000550553C12orf50chr1288388520-3919306329937091136
ENST00000327035AHI1chr6135748305-ENST00000298699C12orf50chr1288388520-4099304327938061175
ENST00000327035AHI1chr6135748305-ENST00000550553C12orf50chr1288388520-3899304327936891136

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
ENST00000457866ENST00000298699AHI1chr6135748305-C12orf50chr1288388520-0.0001075260.9998925
ENST00000457866ENST00000550553AHI1chr6135748305-C12orf50chr1288388520-0.0001739310.99982613
ENST00000327035ENST00000298699AHI1chr6135748305-C12orf50chr1288388520-0.0001062410.9998938
ENST00000327035ENST00000550553AHI1chr6135748305-C12orf50chr1288388520-0.0001725120.9998275

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Fusion Genomic Features for AHI1-C12orf50


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)

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.

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Fusion Protein Features for AHI1-C12orf50


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/chr6:135748305/chr12:88388520)
- 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
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-192313_459211054.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-182713_459211197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-192813_459211197.0Coiled coilOntology_term=ECO:0000255
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923234_2399211054.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827234_2399211197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928234_2399211197.0Compositional biasNote=Poly-Lys
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923607_6499211054.0RepeatNote=WD 1
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923652_6919211054.0RepeatNote=WD 2
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923695_7359211054.0RepeatNote=WD 3
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923742_7819211054.0RepeatNote=WD 4
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923797_8379211054.0RepeatNote=WD 5
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923841_8809211054.0RepeatNote=WD 6
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827607_6499211197.0RepeatNote=WD 1
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827652_6919211197.0RepeatNote=WD 2
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827695_7359211197.0RepeatNote=WD 3
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827742_7819211197.0RepeatNote=WD 4
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827797_8379211197.0RepeatNote=WD 5
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827841_8809211197.0RepeatNote=WD 6
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928607_6499211197.0RepeatNote=WD 1
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928652_6919211197.0RepeatNote=WD 2
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928695_7359211197.0RepeatNote=WD 3
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928742_7819211197.0RepeatNote=WD 4
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928797_8379211197.0RepeatNote=WD 5
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928841_8809211197.0RepeatNote=WD 6

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-19231051_11119211054.0DomainSH3
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-18271051_11119211197.0DomainSH3
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-19281051_11119211197.0DomainSH3
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923885_9269211054.0RepeatNote=WD 7
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827885_9269211197.0RepeatNote=WD 7
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928885_9269211197.0RepeatNote=WD 7


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Fusion Gene Sequence for AHI1-C12orf50


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.
>3091_3091_1_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000327035_C12orf50_chr12_88388520_ENST00000298699_length(transcript)=4099nt_BP=3043nt
GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA
GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCAGTGTCAACCTGGGGCT
GAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGCATTCTCAGTCCTCTGCATAA
AGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTAAGACCCACAGTGATCTAATG
CGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACACTATTAGAAGCAATCTTCACTATATGAAA
GAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTACAAGTGATGATGTAAGTGCTGCTAACACT
AACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAACTGAAAATCCTAATGGTGATGCTAGTGTA
GAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTACACAAGACCTGAAACCGGAAACTCCTGAG
AATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCAGAAAAGTGAGAAGGCAAATGAGGGAAGA
GAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGAAGAAATGGCAAAGGAGATTAAGAGGAAA
ATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGACAAACTAAGCAGTGAAAAAAGGAAAAAG
AAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACACAGTTGAAGGTGAACAAAAGAAAGAATCT
TCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAGCACAGAAGACAGCATGCAAGATGATACA
AAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGTTGATGGTGATGGTGTTCATGAAATAACA
AGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTACATTCACCGAACTGATAGACTTAAGTCA
GATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAGAAAGATGATAGTGGACGGCCT
GTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATATGATTTTAAACAGTTAAAATCAAGACTT
CCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGTCCTAAAGTCATCCTGTTCTTT
GAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGAATGTGGCTTTCGGAAAATTGCCTGGGCA
TTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTACCCACCTACTAAGCCTCGATCC
CCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATCAACACTGTACGTAACTGTAAGAGGACTG
AAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGGTAAACCAGTGCATTGTGAACGTCACCAT
GAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAAACGACTCCCTGGGCAGGCTTGCCGTATC
CCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCT
TGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATT
TATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAAT
ACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGC
TATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATC
AACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATT
AATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAG
ATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTT
GTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTG
TATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCA
TTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGGAGATAGTCTTACAGTT
CCGACAAAACTTAGCCAATATGAAAGGCAAGGTGAAATAAAAACATCATTGCATGGGAAACCAAAGACTGACATTGCTGCTTTTGAAAAT
GGAGGAGGTGACTGTTATGTTCCACAGAGGGTCATATTTCTTGGAGTCGATGAAAGTGAAGCTTTAACTGAAGAGAAAGAAATCACCATA
TCAAAATGTTCAAATACTAAAGATAACAAGGACAGTCCTCATCCAAAGCATTCCCTAACTACCCGACTAGTACCTACAACGCATGTATTA
AATGCTACTGAGAATATCAGTATGAAGTGCAGAGAGGACCCCTCTTCAATGAATGATGTCCAGCCAGTGAAGAAGCCTCATTTTAAAGGT
GTGAAGAAAAGAAAATGGATTTATGATGAACCACAGAACTTTCCTAACTCTGGAATGCAGAGAGCAGTACAGGCCCCAAGACCCCAAAAT
AAAATGAGTTATCACCGCAATAATAAAAATCGAAATGCGGAGAATGCATCCTATATCCACGTTCAAAGAGATGCTGTCAGGACTGTCGCG
TTGAATGCACCTTCCCGCAGCAGGCCCACGCATGGGTCCTACAATAAAGTCCATGCTAACAGGGAACCCAAACCCAACCTCAGTCCAGAC
AAATATACGTCAACATCATATAATGATTCAGCCTGGCGAAAACGAATTCCTTTTTCAAAAACATATTCAAAAAGTGAAAAGATATATCCA
GAGCCAAGAAGAAATGGGAGCAAGTAAACCTGGAGGTTGAGAGAGAGAAAAATGAGAAAAAATTGCCAGACATCATCTGATTTACAATCA
AAAATGAAAATTCAAAGAATGAGATACTCAAGTACTCCATGTTATGTAGTGGATAGCCAAAGATGATAAAAATGCAAATTCTGAAAATAA
GATGCAGGAAGTACATTGTGCTCTTTCAAAACTGATAAAAATGCAAATTACCAACAGCTGCCAGTGTATTTATGTAGGTCTGGAATTCAT

>3091_3091_1_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000327035_C12orf50_chr12_88388520_ENST00000298699_length(amino acids)=1175AA_BP=919
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL
KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR
SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS
RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP
NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHGDSLTVPTKLSQYERQGEIKTSLHGKPKTDIAAFENGGGDCYVPQRVIFLGVDESEALTEEKEITISKC
SNTKDNKDSPHPKHSLTTRLVPTTHVLNATENISMKCREDPSSMNDVQPVKKPHFKGVKKRKWIYDEPQNFPNSGMQRAVQAPRPQNKMS
YHRNNKNRNAENASYIHVQRDAVRTVALNAPSRSRPTHGSYNKVHANREPKPNLSPDKYTSTSYNDSAWRKRIPFSKTYSKSEKIYPEPR

--------------------------------------------------------------
>3091_3091_2_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000327035_C12orf50_chr12_88388520_ENST00000550553_length(transcript)=3899nt_BP=3043nt
GCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTCACTTCGCGCACGCGCCGCTA
GGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTCTCCAGTGTCAACCTGGGGCT
GAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGCATTCTCAGTCCTCTGCATAA
AGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTAAGACCCACAGTGATCTAATG
CGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACACTATTAGAAGCAATCTTCACTATATGAAA
GAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTACAAGTGATGATGTAAGTGCTGCTAACACT
AACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAACTGAAAATCCTAATGGTGATGCTAGTGTA
GAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTACACAAGACCTGAAACCGGAAACTCCTGAG
AATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCAGAAAAGTGAGAAGGCAAATGAGGGAAGA
GAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGAAGAAATGGCAAAGGAGATTAAGAGGAAA
ATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGACAAACTAAGCAGTGAAAAAAGGAAAAAG
AAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACACAGTTGAAGGTGAACAAAAGAAAGAATCT
TCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAGCACAGAAGACAGCATGCAAGATGATACA
AAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGTTGATGGTGATGGTGTTCATGAAATAACA
AGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTACATTCACCGAACTGATAGACTTAAGTCA
GATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAGAAAGATGATAGTGGACGGCCT
GTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATATGATTTTAAACAGTTAAAATCAAGACTT
CCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGTCCTAAAGTCATCCTGTTCTTT
GAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGAATGTGGCTTTCGGAAAATTGCCTGGGCA
TTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTACCCACCTACTAAGCCTCGATCC
CCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATCAACACTGTACGTAACTGTAAGAGGACTG
AAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGGTAAACCAGTGCATTGTGAACGTCACCAT
GAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAAACGACTCCCTGGGCAGGCTTGCCGTATC
CCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATGGAAGAATATTAGCAGCAGCT
TGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATT
TATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATATGGAAAAATGAAATAAACAAT
ACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGC
TATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTGATGTTCACAAAAGTTTTATC
AACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATT
AATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAATTCCAATAAGTTATTTGGAG
ATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGATATTAGTAGCAAGGAAGTTT
GTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTGGAAGTGAGGATGGTATAGTG
TATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCA
TTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCCATGGAGATAGTCTTACAGTT
CCGACAAAACTTAGCCAATATGAAAGGCAAGGTGAAATAAAAACATCATTGCATGGGAAACCAAAGACTGACATTGCTGCTTTTGAAAAT
GGAGGAGGTGACTGTTATGTTCCACAGAGGGTCATATTTCTTGGAGTCGATGAAAGTGAAGCTTTAACTGAAGAGAAAGAAATCACCATA
TCAAAATGTTCAAATACTAAAGTGAATGATGTCCAGCCAGTGAAGAAGCCTCATTTTAAAGGTGTGAAGAAAAGAAAATGGATTTATGAT
GAACCACAGAACTTTCCTAACTCTGGAATGCAGAGAGCAGTACAGGCCCCAAGACCCCAAAATAAAATGAGTTATCACCGCAATAATAAA
AATCGAAATGCGGAGAATGCATCCTATATCCACGTTCAAAGAGATGCTGTCAGGACTGTCGCGTTGAATGCACCTTCCCGCAGCAGGCCC
ACGCATGGGTCCTACAATAAAGTCCATGCTAACAGGGAACCCAAACCCAACCTCAGTCCAGACAAATATACGTCAACATCATATAATGAT
TCAGCCTGGCGAAAACGAATTCCTTTTTCAAAAACATATTCAAAAAGTGAAAAGATATATCCAGAGCCAAGAAGAAATGGGAGCAAGTAA
ACCTGGAGGTTGAGAGAGAGAAAAATGAGAAAAAATTGCCAGACATCATCTGATTTACAATCAAAAATGAAAATTCAAAGAATGAGATAC
TCAAGTACTCCATGTTATGTAGTGGATAGCCAAAGATGATAAAAATGCAAATTCTGAAAATAAGATGCAGGAAGTACATTGTGCTCTTTC

>3091_3091_2_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000327035_C12orf50_chr12_88388520_ENST00000550553_length(amino acids)=1136AA_BP=919
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL
KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR
SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS
RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP
NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHGDSLTVPTKLSQYERQGEIKTSLHGKPKTDIAAFENGGGDCYVPQRVIFLGVDESEALTEEKEITISKC
SNTKVNDVQPVKKPHFKGVKKRKWIYDEPQNFPNSGMQRAVQAPRPQNKMSYHRNNKNRNAENASYIHVQRDAVRTVALNAPSRSRPTHG

--------------------------------------------------------------
>3091_3091_3_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000457866_C12orf50_chr12_88388520_ENST00000298699_length(transcript)=4119nt_BP=3063nt
GGCGGCGCGCTGTCCGCACTGCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTC
ACTTCGCGCACGCGCCGCTAGGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTC
TCCAGTGTCAACCTGGGGCTGAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGC
ATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTA
AGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACACTATTAGAA
GCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTACAAGTGATG
ATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAACTGAAAATC
CTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTACACAAGACC
TGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCAGAAAAGTG
AGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGAAGAAATGG
CAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGACAAACTAA
GCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACACAGTTGAAG
GTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAGCACAGAAG
ACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGTTGATGGTG
ATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTACATTCACC
GAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAGA
AAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATATGATTTTA
AACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGTC
CTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGAATGTGGCT
TTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTACC
CACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATCAACACTGT
ACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGGTAAACCAG
TGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAAACGACTCC
CTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATG
GAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGT
GTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATAT
GGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAG
AGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTG
ATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTT
GGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAA
TTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGA
TATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTG
GAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTC
GAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCC
ATGGAGATAGTCTTACAGTTCCGACAAAACTTAGCCAATATGAAAGGCAAGGTGAAATAAAAACATCATTGCATGGGAAACCAAAGACTG
ACATTGCTGCTTTTGAAAATGGAGGAGGTGACTGTTATGTTCCACAGAGGGTCATATTTCTTGGAGTCGATGAAAGTGAAGCTTTAACTG
AAGAGAAAGAAATCACCATATCAAAATGTTCAAATACTAAAGATAACAAGGACAGTCCTCATCCAAAGCATTCCCTAACTACCCGACTAG
TACCTACAACGCATGTATTAAATGCTACTGAGAATATCAGTATGAAGTGCAGAGAGGACCCCTCTTCAATGAATGATGTCCAGCCAGTGA
AGAAGCCTCATTTTAAAGGTGTGAAGAAAAGAAAATGGATTTATGATGAACCACAGAACTTTCCTAACTCTGGAATGCAGAGAGCAGTAC
AGGCCCCAAGACCCCAAAATAAAATGAGTTATCACCGCAATAATAAAAATCGAAATGCGGAGAATGCATCCTATATCCACGTTCAAAGAG
ATGCTGTCAGGACTGTCGCGTTGAATGCACCTTCCCGCAGCAGGCCCACGCATGGGTCCTACAATAAAGTCCATGCTAACAGGGAACCCA
AACCCAACCTCAGTCCAGACAAATATACGTCAACATCATATAATGATTCAGCCTGGCGAAAACGAATTCCTTTTTCAAAAACATATTCAA
AAAGTGAAAAGATATATCCAGAGCCAAGAAGAAATGGGAGCAAGTAAACCTGGAGGTTGAGAGAGAGAAAAATGAGAAAAAATTGCCAGA
CATCATCTGATTTACAATCAAAAATGAAAATTCAAAGAATGAGATACTCAAGTACTCCATGTTATGTAGTGGATAGCCAAAGATGATAAA
AATGCAAATTCTGAAAATAAGATGCAGGAAGTACATTGTGCTCTTTCAAAACTGATAAAAATGCAAATTACCAACAGCTGCCAGTGTATT

>3091_3091_3_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000457866_C12orf50_chr12_88388520_ENST00000298699_length(amino acids)=1175AA_BP=919
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL
KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR
SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS
RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP
NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHGDSLTVPTKLSQYERQGEIKTSLHGKPKTDIAAFENGGGDCYVPQRVIFLGVDESEALTEEKEITISKC
SNTKDNKDSPHPKHSLTTRLVPTTHVLNATENISMKCREDPSSMNDVQPVKKPHFKGVKKRKWIYDEPQNFPNSGMQRAVQAPRPQNKMS
YHRNNKNRNAENASYIHVQRDAVRTVALNAPSRSRPTHGSYNKVHANREPKPNLSPDKYTSTSYNDSAWRKRIPFSKTYSKSEKIYPEPR

--------------------------------------------------------------
>3091_3091_4_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000457866_C12orf50_chr12_88388520_ENST00000550553_length(transcript)=3919nt_BP=3063nt
GGCGGCGCGCTGTCCGCACTGCGGCACAGAGCCGCGGCTTGCTTTCAGGACACGGGTCGCTGGCGGGTTAGGTGGCTGCGTGGCCGCCTC
ACTTCGCGCACGCGCCGCTAGGCTGGGGGAGTTGATTTGCACTGCTCCGGGTGTCGGCTCCGGCGGGACGGGCGGTTCTGCGTACCCCTC
TCCAGTGTCAACCTGGGGCTGAATCTTCAACCTGTCAAAGCCTTCTTAATTATGTCTGAGAAAAGGATCCTGATTGAGTCAATGCTTTGC
ATTCTCAGTCCTCTGCATAAAGCTGAGAGATGCCTACAGCTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTTA
AGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCTGAAGAAAACATCTCACCTGACACTATTAGAA
GCAATCTTCACTATATGAAAGAAACTACAAGTGATGATCCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTACAAGTGATG
ATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAATTGAGGAACACACAGTTAGCAACTGAAAATC
CTAATGGTGATGCTAGTGTAGAGGAAGACAAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTACACAAGACC
TGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAGCCACAGCCAGGCGTTGATCATCAGAAAAGTG
AGAAGGCAAATGAGGGAAGAGAAGAGACTGATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGAAGAAATGG
CAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCCTCAGATACTTTATTCCATGATGACAAACTAA
GCAGTGAAAAAAGGAAAAAGAAAAAGGAAGTTCCAGTCTTCTCTAAAGCTGAAACAAGTACATTGACCATCTCTGGTGACACAGTTGAAG
GTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGATGAAATAAGCTCAATGGAACAAAGCACAGAAG
ACAGCATGCAAGATGATACAAAACCTAAACCAAAAAAAACAAAAAAGAAGACTAAAGCAGTTGCAGATAATAATGAAGATGTTGATGGTG
ATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGATGATGACCTTGTCTTGGGAGTTTACATTCACC
GAACTGATAGACTTAAGTCAGATTTTATGATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAGA
AAGATGATAGTGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATTCTTCCTATTATGACCCAGCCATATGATTTTA
AACAGTTAAAATCAAGACTTCCAGAGTGGGAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGTC
CTAAAGTCATCCTGTTCTTTGAGATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAATAATTCTGAGGTTCAAAACCAAGAATGTGGCT
TTCGGAAAATTGCCTGGGCATTTCTTAAGCTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTACC
CACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAATGTCCAAGAAATCATTACCCATCAACACTGT
ACGTAACTGTAAGAGGACTGAAAGTTCCAGACTGTATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGGTAAACCAG
TGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAGTCAAAGGAAGTAATAAAGTGGAAACGACTCC
CTGGGCAGGCTTGCCGTATCCCAAACAAACACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAATG
GAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTTTATATGAAATTCCTTCTGGACGTTTCATGAGAGAATTGT
GTGGCCACCTCAATATCATTTATGATCTTTCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAGGATAT
GGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTTTACACGGCTAAATTCCATCCAGCTGTAAGAG
AGCTAGTAGTTACAGGATGCTATGATTCCATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTTG
ATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAGGTCATCATATGTATTCAGGAGATTGTACAGGGGTGATTGTTGTTT
GGAATACCTATGTCAAGATTAATGATTTGGAACATTCAGTGCACCACTGGACTATAAATAAGGAAATTAAAGAAACTGAGTTTAAGGGAA
TTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAAGACAGTACTTTGAGAATTATGGATCTCCGGA
TATTAGTAGCAAGGAAGTTTGTAGGAGCAGCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCTG
GAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAGGAGAACAAGTAGCCATGTATTCTGACTTGCCATTCAAGTCACCCATTC
GAGACATTTCTTATCATCCATTTGAAAATATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTCC
ATGGAGATAGTCTTACAGTTCCGACAAAACTTAGCCAATATGAAAGGCAAGGTGAAATAAAAACATCATTGCATGGGAAACCAAAGACTG
ACATTGCTGCTTTTGAAAATGGAGGAGGTGACTGTTATGTTCCACAGAGGGTCATATTTCTTGGAGTCGATGAAAGTGAAGCTTTAACTG
AAGAGAAAGAAATCACCATATCAAAATGTTCAAATACTAAAGTGAATGATGTCCAGCCAGTGAAGAAGCCTCATTTTAAAGGTGTGAAGA
AAAGAAAATGGATTTATGATGAACCACAGAACTTTCCTAACTCTGGAATGCAGAGAGCAGTACAGGCCCCAAGACCCCAAAATAAAATGA
GTTATCACCGCAATAATAAAAATCGAAATGCGGAGAATGCATCCTATATCCACGTTCAAAGAGATGCTGTCAGGACTGTCGCGTTGAATG
CACCTTCCCGCAGCAGGCCCACGCATGGGTCCTACAATAAAGTCCATGCTAACAGGGAACCCAAACCCAACCTCAGTCCAGACAAATATA
CGTCAACATCATATAATGATTCAGCCTGGCGAAAACGAATTCCTTTTTCAAAAACATATTCAAAAAGTGAAAAGATATATCCAGAGCCAA
GAAGAAATGGGAGCAAGTAAACCTGGAGGTTGAGAGAGAGAAAAATGAGAAAAAATTGCCAGACATCATCTGATTTACAATCAAAAATGA
AAATTCAAAGAATGAGATACTCAAGTACTCCATGTTATGTAGTGGATAGCCAAAGATGATAAAAATGCAAATTCTGAAAATAAGATGCAG

>3091_3091_4_AHI1-C12orf50_AHI1_chr6_135748305_ENST00000457866_C12orf50_chr12_88388520_ENST00000550553_length(amino acids)=1136AA_BP=919
MPTAESEAKVKTKVRFEELLKTHSDLMREKKKLKKKLVRSEENISPDTIRSNLHYMKETTSDDPDTIRSNLPHIKETTSDDVSAANTNNL
KKSTRVTKNKLRNTQLATENPNGDASVEEDKQGKPNKKVIKTVPQLTTQDLKPETPENKVDSTHQKTHTKPQPGVDHQKSEKANEGREET
DLEEDEELMQAYQCHVTEEMAKEIKRKIRKKLKEQLTYFPSDTLFHDDKLSSEKRKKKKEVPVFSKAETSTLTISGDTVEGEQKKESSVR
SVSSDSHQDDEISSMEQSTEDSMQDDTKPKPKKTKKKTKAVADNNEDVDGDGVHEITSRDSPVYPKCLLDDDLVLGVYIHRTDRLKSDFM
ISHPMVKIHVVDEHTGQYVKKDDSGRPVSSYYEKENVDYILPIMTQPYDFKQLKSRLPEWEEQIVFNENFPYLLRGSDESPKVILFFEIL
DFLSVDEIKNNSEVQNQECGFRKIAWAFLKLLGANGNANINSKLRLQLYYPPTKPRSPLSVVEAFEWWSKCPRNHYPSTLYVTVRGLKVP
DCIKPSYRSMMALQEEKGKPVHCERHHESSSVDTEPGLEESKEVIKWKRLPGQACRIPNKHLFSLNAGERGCFCLDFSHNGRILAAACAS
RDGYPIILYEIPSGRFMRELCGHLNIIYDLSWSKDDHYILTSSSDGTARIWKNEINNTNTFRVLPHPSFVYTAKFHPAVRELVVTGCYDS
MIRIWKVEMREDSAILVRQFDVHKSFINSLCFDTEGHHMYSGDCTGVIVVWNTYVKINDLEHSVHHWTINKEIKETEFKGIPISYLEIHP
NGKRLLIHTKDSTLRIMDLRILVARKFVGAANYREKIHSTLTPCGTFLFAGSEDGIVYVWNPETGEQVAMYSDLPFKSPIRDISYHPFEN
MVAFCAFGQNEPILLYIYDFHGDSLTVPTKLSQYERQGEIKTSLHGKPKTDIAAFENGGGDCYVPQRVIFLGVDESEALTEEKEITISKC
SNTKVNDVQPVKKPHFKGVKKRKWIYDEPQNFPNSGMQRAVQAPRPQNKMSYHRNNKNRNAENASYIHVQRDAVRTVALNAPSRSRPTHG

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Fusion Gene PPI Analysis for AHI1-C12orf50


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
HgeneAHI1chr6:135748305chr12:88388520ENST00000327035-1923141_434921.33333333333341054.0HAP1
HgeneAHI1chr6:135748305chr12:88388520ENST00000367800-1827141_434921.33333333333341197.0HAP1
HgeneAHI1chr6:135748305chr12:88388520ENST00000457866-1928141_434921.33333333333341197.0HAP1


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 AHI1-C12orf50


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 AHI1-C12orf50


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