Fusion Gene Studies
in Kim Lab

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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:AHSA1-TMEM67 (FusionGDB2 ID:HG10598TG91147)

Fusion Gene Summary for AHSA1-TMEM67

check button Fusion gene summary
Fusion gene informationFusion gene name: AHSA1-TMEM67
Fusion gene ID: hg10598tg91147
HgeneTgene
Gene symbol

AHSA1

TMEM67

Gene ID

10598

91147

Gene nameactivator of HSP90 ATPase activity 1transmembrane protein 67
SynonymsAHA1|C14orf3|hAha1|p38JBTS6|MECKELIN|MKS3|NPHP11|TNEM67
Cytomap('AHSA1')('TMEM67')

14q24.3

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionactivator of 90 kDa heat shock protein ATPase homolog 1AHA1, activator of heat shock 90kDa protein ATPase homolog 1meckelinmeckel syndrome type 3 protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000216479, ENST00000535854, 
ENST00000555457, ENST00000555517, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 7 X 4=112
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/112*10)=-1.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHSA1 [Title/Abstract] AND TMEM67 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHSA1(77931029)-TMEM67(94770711), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneAHSA1

GO:0032781

positive regulation of ATPase activity

29127155


check buttonFusion gene breakpoints across AHSA1 (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
ChimerDB4PRADTCGA-HC-7212-01AAHSA1chr14

77931029

+TMEM67chr8

94770711

+


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Fusion Gene ORF analysis for AHSA1-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-5UTRENST00000216479ENST00000409623AHSA1chr14

77931029

+TMEM67chr8

94770711

+
5CDS-5UTRENST00000535854ENST00000409623AHSA1chr14

77931029

+TMEM67chr8

94770711

+
5CDS-intronENST00000216479ENST00000425545AHSA1chr14

77931029

+TMEM67chr8

94770711

+
5CDS-intronENST00000535854ENST00000425545AHSA1chr14

77931029

+TMEM67chr8

94770711

+
In-frameENST00000216479ENST00000453321AHSA1chr14

77931029

+TMEM67chr8

94770711

+
In-frameENST00000535854ENST00000453321AHSA1chr14

77931029

+TMEM67chr8

94770711

+
intron-3CDSENST00000555457ENST00000453321AHSA1chr14

77931029

+TMEM67chr8

94770711

+
intron-3CDSENST00000555517ENST00000453321AHSA1chr14

77931029

+TMEM67chr8

94770711

+
intron-5UTRENST00000555457ENST00000409623AHSA1chr14

77931029

+TMEM67chr8

94770711

+
intron-5UTRENST00000555517ENST00000409623AHSA1chr14

77931029

+TMEM67chr8

94770711

+
intron-intronENST00000555457ENST00000425545AHSA1chr14

77931029

+TMEM67chr8

94770711

+
intron-intronENST00000555517ENST00000425545AHSA1chr14

77931029

+TMEM67chr8

94770711

+

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)
ENST00000216479AHSA1chr1477931029+ENST00000453321TMEM67chr894770711+500272116033961078
ENST00000535854AHSA1chr1477931029+ENST00000453321TMEM67chr894770711+500071915833941078

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
ENST00000216479ENST00000453321AHSA1chr1477931029+TMEM67chr894770711+7.43E-050.99992573
ENST00000535854ENST00000453321AHSA1chr1477931029+TMEM67chr894770711+7.44E-050.9999256

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Fusion Genomic Features for AHSA1-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)
AHSA1chr1477931029+TMEM67chr894770714+2.45E-070.99999976
AHSA1chr1477931029+TMEM67chr894770714+2.45E-070.99999976

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 AHSA1-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/chr14:77931029/chr8:94770711)
- 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
TgeneTMEM67chr14:77931029chr8:94770711ENST00000409623129526_5460915.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000409623129570_5900915.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000409623129609_6290915.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000409623129689_7090915.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000409623129734_7540915.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000409623129939_9590915.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000453321128526_546104996.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000453321128570_590104996.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000453321128609_629104996.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000453321128689_709104996.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000453321128734_754104996.0TransmembraneHelical
TgeneTMEM67chr14:77931029chr8:94770711ENST00000453321128939_959104996.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for AHSA1-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.
>3145_3145_1_AHSA1-TMEM67_AHSA1_chr14_77931029_ENST00000216479_TMEM67_chr8_94770711_ENST00000453321_length(transcript)=5002nt_BP=721nt
GGAAGTTAAGGAGGGGAGGGGGTGGAGGGAAAAGCAAGCCAGGAGGTGCTTGCGGCCGCTTCTAGTAGTTTCCAGGCGCTGCCGGGCGGC
TGGCACTAAGCGGTCCTGAGGCTGTGGCTACGGCTGCTCCGGAGCTGGTGGCGCCGCGATAGGAGAGCCGATGGCCAAGTGGGGTGAGGG
AGACCCACGCTGGATCGTGGAGGAGCGGGCGGACGCCACCAACGTCAACAACTGGCACTGGACGGAGAGAGATGCTTCAAATTGGTCCAC
GGATAAGCTGAAAACACTGTTCCTGGCAGTGCAGGTTCAAAATGAAGAAGGCAAGTGTGAGGTGACGGAAGTGAGTAAGCTTGATGGAGA
GGCATCCATTAACAATCGCAAAGGGAAACTTATCTTCTTTTATGAATGGAGCGTCAAACTAAACTGGACAGGTACTTCTAAGTCAGGAGT
ACAATACAAAGGACATGTGGAGATCCCCAATTTGTCTGATGAAAACAGCGTGGATGAAGTGGAGATTAGTGTGAGCCTTGCCAAAGATGA
GCCTGACACAAATCTCGTGGCCTTAATGAAGGAAGAAGGGGTGAAACTTCTAAGAGAAGCAATGGGAATTTACATCAGCACCCTCAAAAC
AGAGTTCACCCAGGGCATGATCTTACCTACAATGAATGGAGAGTCAGTAGACCCAGTGGGGCAGCCAGCACTGAAAACTGAGGAGCGCAA
GAAAGGTGTTACAGAAGATGGCTGGAACTGCATTTCTTGCCCTAGTGACTTAACTGCCGAAGGAAAATGTCACTGTCCCATTGGCCATAT
TTTAGTGGAAAGAGACATTAATGGAACATTGTTGTCTCAAGCAACTTGTGAGCTCTGTGATGGAAATGAAAACTCTTTTATGGTAGTAAA
TGCTTTAGGAGACAGGTGCGTCCGATGTGAGCCAACATTTGTTAATACCAGCAGGTCCTGTGCATGTTCAGAACCTAACATTTTAACAGG
GGGATTATGTTTCAGCAGCACAGGGAATTTTCCTCTACGTAGAATTTCAGCTGCACGTTATGGAGAAGTTGGCATGTCTTTAACTTCAGA
ATGGTTTGCAAAGTATTTGCAATCATCAGCAGCTGCATGTTGGGTATATGCCAATCTAACATCTTGTCAAGCTCTTGGAAATATGTGTGT
GATGAACATGAATTCTTACGACTTTGCCACATTTGATGCATGTGGACTATTTCAGTTTATCTTTGAAAATACTGCTGGACTGAGCACTGT
TCATTCTATTTCATTTTGGAGACAGAATCTTCCTTGGCTGTTTTATGGAGACCAGTTAGGATTAGCACCTCAAGTGCTCAGTTCTACCTC
TCTTCCTACAAATTTCAGTTTTAAAGGAGAAAACCAGAATACAAAACTGAAGTTTGTTGCTGCTTCCTATGATATAAGAGGAAATTTTCT
CAAGTGGCAAACTTTAGAAGGAGGTGTTTTACAGCTTTGTCCAGACACAGAGACAAGGCTAAATGCTGCTTATTCATTTGGAACAACCTA
CCAACAAAATTGTGAGATTCCTATCTCTAAGATCTTAATTGACTTTCCCACTCCTATATTTTATGATGTGTACCTTGAATATACTGATGA
AAATCAACATCAATATATTTTGGCTGTGCCTGTGTTAAACCTAAATCTTCAACATAATAAGATATTTGTGAACCAAGACAGCAACTCTGG
AAAGTGGCTTCTAACTCGGCGCATTTTCTTAGTGGATGCAGTAAGTGGACGAGAAAATGACTTAGGAACTCAGCCAAGAGTAATTCGAGT
TGCTACTCAAATATCACTGAGTGTCCACCTTGTACCCAACACAATAAATGGAAACATCTACCCTCCCTTAATCACCATTGCCTACAGTGA
CATTGATATCAAAGATGCCAACAGCCAGTCTGTGAAGGTTTCTTTCTCAGTCACATATGAAATGGATCATGGAGAAGCACATGTCCAGAC
AGATATTGCTTTGGGTGTATTGGGTGGGCTAGCTGTTTTAGCATCTCTTTTGAAGACAGCAGGATGGAAGAGGCGCATTGGGAGTCCCAT
GATTGATTTACAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCT
TTACTGGCTTATTTTCTTCAAAGCACAGAAGTCTGTGTCTGTTTTGCTGCCAATGCCAATTCAGGAAGAACGTTTTGTCACTTATGTTGG
ATGTGCCTTTGCTCTGAAGGCACTACAATTTTTGCATAAGCTCATATCCCAGATTACAATAGATGTATTCTTTATTGATTGGGAGCGACC
TAAAGGAAAGGTTCTTAAAGCTGTTGAAGGTGAGGGTGGTGTACGAAGTGCCACTGTTCCTGTAAGCATATGGAGAACATATTTTGTAGC
AAATGAATGGAATGAAATTCAGACTGTGAGAAAAATTAATTCACTCTTTCAAGTACTTACTGTCCTCTTCTTTTTGGAGGTTGTGGGATT
CAAGAACTTAGCATTAATGGACTCATCTTCTAGTCTTTCTAGAAACCCACCTAGCTACATAGCTCCTTATAGCTGCATTTTGAGATATGC
AGTGTCTGCTGCTCTTTGGCTAGCCATTGGAATTATACAGGTCGTGTTCTTTGCTGTCTTTTATGAGAGATTTATAGAAGATAAAATTCG
ACAGTTCGTTGATTTATGCTCTATGAGTAATATATCAGTGTTTCTGTTATCCCACAAATGTTTTGGATATTACATTCATGGTAGATCAGT
ACATGGGCATGCAGATACTAATATGGAAGAAATGAATATGAACCTTAAAAGAGAAGCGGAAAATTTGTGTAGCCAGAGAGGTTTGGTACC
CAACACAGATGGTCAGACTTTTGAGATTGCAATTTCTAACCAGATGAGACAACATTATGACAGAATTCATGAGACACTAATAAGGAAAAA
TGGTCCTGCTAGACTACTGAGTTCATCAGCAAGTACTTTTGAGCAGAGTATAAAAGCATATCATATGATGAATAAATTTCTTGGCTCCTT
CATTGACCATGTTCATAAGGAAATGGATTACTTTATAAAAGATAAGTTGCTTCTTGAAAGAATTCTTGGAATGGAATTCATGGAACCAAT
GGAAAAAAGCATCTTTTACAATGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCT
GCTGTTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATAT
CCGTAATACAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAATAAATAACTTAAAG
ACTCAGTATAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAGACTATTCTGTTTTT
GTTTTTTATTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCCCATTGTGTGTAGTA
TTTAATGCAGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACTTTTTAATGCTAATT
AAAACAGTCCCCATCATTTGTCTCTGTAGATTATTTTATAAACTGAGAGCTGCCTGAATCTTCTCACATTGACAAAGTAATTTGATTCCA
AGTTTAAGACTAGTTTTCAGTTTGATATTTTCATGTTTTGTGTGCTTATGGTTAAATAAATGTTGAAAGATATTTTCAAGTTTACTTAGA
AATTTTAAATTGTATTATTGCTGATTCAATTTGCATCATTCTAATTGCTCATCCTCTTTGGCAGTGGATTAATTCACTGTTGGGTTAATA
TGCATCTCATGAAATGATATCTTTTCATTCCTTTGTATACCTGTATTAGGTCAGTATACGCTTTCCATGAAATATATTTGCATTTCTAAT
ATAGTTTACATTTATTAAGTTATAACGTATGACATTTTTCCCAATATCATTTTTTATACATTTTAATTACTTAATGTTTTAAGAGTTCTC
TTCCAGAGTTTTGCTTTTCAATTACGTTTAAAGACTGTAAATAACAAACAGTAAGGCTGGGCGCTGTGGCTTACGCCTGTAATCCCAGCA
CTTTGGAAGGCCAAGGCACGTGGATCACTTTAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGAAAACCCCATCTCTACAAAAAATA
CAAAAATTAGTTGGATGTGGTGGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCATGAGAATAGCTTGAAACCAGGAGGTGGAGGCTGT
AGTGAGCCAGATAGCACCACTGCACTCCAGCCAGGATGACAGAGCAAGACCCTGTCTCAGAAAAAACAAAAACAAAACACTGTAAATGTA
TCATGTTTCTCACTGCTTTCTATGTTAATGCTGTGTAAATACTTAAAATGGAATACTGTATAAATATTATTTATATTTTCTCAGATGAAA
ATATATACTAAAACATTTGGTATTTCTGTTTTCTGTTTCATTAATGTATATCTGATGGAGTACCATTTAGGAATATAACATTATTGGGGC
AGAGGTCCCAGCCATTGCCAAAGTTGAATCTTTTACATTTCCCTGAATCTTGAGGATGACTGAAAAGGAAGTCTTTGAAACTGCAGTTTC
TGAAGGATCACAGTACAGGAATGCCTTTATAAAAGCTGCAGAGATAAATACATGTACTTATATGGCATGGATATTTAAAACCACTCACTC
AGAAGCATATGAAAGAAATTCAACCATCATTCAACATAGAAGAAGTTAATTTTAGTGCAAAAGTTTTTAAGTATTAAATTTCACAATAAA
GGATCAATTGGCTTACTTGCTGATAAATTAAAACAGAAAACATTTAAAATCA

>3145_3145_1_AHSA1-TMEM67_AHSA1_chr14_77931029_ENST00000216479_TMEM67_chr8_94770711_ENST00000453321_length(amino acids)=1078AA_BP=187
MAKWGEGDPRWIVEERADATNVNNWHWTERDASNWSTDKLKTLFLAVQVQNEEGKCEVTEVSKLDGEASINNRKGKLIFFYEWSVKLNWT
GTSKSGVQYKGHVEIPNLSDENSVDEVEISVSLAKDEPDTNLVALMKEEGVKLLREAMGIYISTLKTEFTQGMILPTMNGESVDPVGQPA
LKTEERKKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACS
EPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFEN
TAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAA
YSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGT
QPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWK
RRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVF
FIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPY
SCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLC
SQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILG
MEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI

--------------------------------------------------------------
>3145_3145_2_AHSA1-TMEM67_AHSA1_chr14_77931029_ENST00000535854_TMEM67_chr8_94770711_ENST00000453321_length(transcript)=5000nt_BP=719nt
AAGTTAAGGAGGGGAGGGGGTGGAGGGAAAAGCAAGCCAGGAGGTGCTTGCGGCCGCTTCTAGTAGTTTCCAGGCGCTGCCGGGCGGCTG
GCACTAAGCGGTCCTGAGGCTGTGGCTACGGCTGCTCCGGAGCTGGTGGCGCCGCGATAGGAGAGCCGATGGCCAAGTGGGGTGAGGGAG
ACCCACGCTGGATCGTGGAGGAGCGGGCGGACGCCACCAACGTCAACAACTGGCACTGGACGGAGAGAGATGCTTCAAATTGGTCCACGG
ATAAGCTGAAAACACTGTTCCTGGCAGTGCAGGTTCAAAATGAAGAAGGCAAGTGTGAGGTGACGGAAGTGAGTAAGCTTGATGGAGAGG
CATCCATTAACAATCGCAAAGGGAAACTTATCTTCTTTTATGAATGGAGCGTCAAACTAAACTGGACAGGTACTTCTAAGTCAGGAGTAC
AATACAAAGGACATGTGGAGATCCCCAATTTGTCTGATGAAAACAGCGTGGATGAAGTGGAGATTAGTGTGAGCCTTGCCAAAGATGAGC
CTGACACAAATCTCGTGGCCTTAATGAAGGAAGAAGGGGTGAAACTTCTAAGAGAAGCAATGGGAATTTACATCAGCACCCTCAAAACAG
AGTTCACCCAGGGCATGATCTTACCTACAATGAATGGAGAGTCAGTAGACCCAGTGGGGCAGCCAGCACTGAAAACTGAGGAGCGCAAGA
AAGGTGTTACAGAAGATGGCTGGAACTGCATTTCTTGCCCTAGTGACTTAACTGCCGAAGGAAAATGTCACTGTCCCATTGGCCATATTT
TAGTGGAAAGAGACATTAATGGAACATTGTTGTCTCAAGCAACTTGTGAGCTCTGTGATGGAAATGAAAACTCTTTTATGGTAGTAAATG
CTTTAGGAGACAGGTGCGTCCGATGTGAGCCAACATTTGTTAATACCAGCAGGTCCTGTGCATGTTCAGAACCTAACATTTTAACAGGGG
GATTATGTTTCAGCAGCACAGGGAATTTTCCTCTACGTAGAATTTCAGCTGCACGTTATGGAGAAGTTGGCATGTCTTTAACTTCAGAAT
GGTTTGCAAAGTATTTGCAATCATCAGCAGCTGCATGTTGGGTATATGCCAATCTAACATCTTGTCAAGCTCTTGGAAATATGTGTGTGA
TGAACATGAATTCTTACGACTTTGCCACATTTGATGCATGTGGACTATTTCAGTTTATCTTTGAAAATACTGCTGGACTGAGCACTGTTC
ATTCTATTTCATTTTGGAGACAGAATCTTCCTTGGCTGTTTTATGGAGACCAGTTAGGATTAGCACCTCAAGTGCTCAGTTCTACCTCTC
TTCCTACAAATTTCAGTTTTAAAGGAGAAAACCAGAATACAAAACTGAAGTTTGTTGCTGCTTCCTATGATATAAGAGGAAATTTTCTCA
AGTGGCAAACTTTAGAAGGAGGTGTTTTACAGCTTTGTCCAGACACAGAGACAAGGCTAAATGCTGCTTATTCATTTGGAACAACCTACC
AACAAAATTGTGAGATTCCTATCTCTAAGATCTTAATTGACTTTCCCACTCCTATATTTTATGATGTGTACCTTGAATATACTGATGAAA
ATCAACATCAATATATTTTGGCTGTGCCTGTGTTAAACCTAAATCTTCAACATAATAAGATATTTGTGAACCAAGACAGCAACTCTGGAA
AGTGGCTTCTAACTCGGCGCATTTTCTTAGTGGATGCAGTAAGTGGACGAGAAAATGACTTAGGAACTCAGCCAAGAGTAATTCGAGTTG
CTACTCAAATATCACTGAGTGTCCACCTTGTACCCAACACAATAAATGGAAACATCTACCCTCCCTTAATCACCATTGCCTACAGTGACA
TTGATATCAAAGATGCCAACAGCCAGTCTGTGAAGGTTTCTTTCTCAGTCACATATGAAATGGATCATGGAGAAGCACATGTCCAGACAG
ATATTGCTTTGGGTGTATTGGGTGGGCTAGCTGTTTTAGCATCTCTTTTGAAGACAGCAGGATGGAAGAGGCGCATTGGGAGTCCCATGA
TTGATTTACAGACAGTTGTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTGGGAACAGGTCTTT
ACTGGCTTATTTTCTTCAAAGCACAGAAGTCTGTGTCTGTTTTGCTGCCAATGCCAATTCAGGAAGAACGTTTTGTCACTTATGTTGGAT
GTGCCTTTGCTCTGAAGGCACTACAATTTTTGCATAAGCTCATATCCCAGATTACAATAGATGTATTCTTTATTGATTGGGAGCGACCTA
AAGGAAAGGTTCTTAAAGCTGTTGAAGGTGAGGGTGGTGTACGAAGTGCCACTGTTCCTGTAAGCATATGGAGAACATATTTTGTAGCAA
ATGAATGGAATGAAATTCAGACTGTGAGAAAAATTAATTCACTCTTTCAAGTACTTACTGTCCTCTTCTTTTTGGAGGTTGTGGGATTCA
AGAACTTAGCATTAATGGACTCATCTTCTAGTCTTTCTAGAAACCCACCTAGCTACATAGCTCCTTATAGCTGCATTTTGAGATATGCAG
TGTCTGCTGCTCTTTGGCTAGCCATTGGAATTATACAGGTCGTGTTCTTTGCTGTCTTTTATGAGAGATTTATAGAAGATAAAATTCGAC
AGTTCGTTGATTTATGCTCTATGAGTAATATATCAGTGTTTCTGTTATCCCACAAATGTTTTGGATATTACATTCATGGTAGATCAGTAC
ATGGGCATGCAGATACTAATATGGAAGAAATGAATATGAACCTTAAAAGAGAAGCGGAAAATTTGTGTAGCCAGAGAGGTTTGGTACCCA
ACACAGATGGTCAGACTTTTGAGATTGCAATTTCTAACCAGATGAGACAACATTATGACAGAATTCATGAGACACTAATAAGGAAAAATG
GTCCTGCTAGACTACTGAGTTCATCAGCAAGTACTTTTGAGCAGAGTATAAAAGCATATCATATGATGAATAAATTTCTTGGCTCCTTCA
TTGACCATGTTCATAAGGAAATGGATTACTTTATAAAAGATAAGTTGCTTCTTGAAAGAATTCTTGGAATGGAATTCATGGAACCAATGG
AAAAAAGCATCTTTTACAATGATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTTATTTTTGATCTGC
TGTTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCATCCTTCCTTACATATCTACAACAAGAGATTTTTAGATATATCC
GTAATACAGTAGGACAAAAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAACTTCCTGAATAAATAACTTAAAGAC
TCAGTATAATCATGGCCAAAAAAAAGTCATGATATCAGGTTAGTTTGCCATATTTTTTAAAACTTATAATGCAGACTATTCTGTTTTTGT
TTTTTATTTGCAGAAAGATTTATTTTTATAACTTGGGAATATATAACCTGATATAATAGAAAATACTGTTTTCCCATTGTGTGTAGTATT
TAATGCAGTAAATAATAAATTAATACTGACAGTGAGGCCAAAAAAAATCTAAATGTTGCTTTCAGCATAATACTTTTTAATGCTAATTAA
AACAGTCCCCATCATTTGTCTCTGTAGATTATTTTATAAACTGAGAGCTGCCTGAATCTTCTCACATTGACAAAGTAATTTGATTCCAAG
TTTAAGACTAGTTTTCAGTTTGATATTTTCATGTTTTGTGTGCTTATGGTTAAATAAATGTTGAAAGATATTTTCAAGTTTACTTAGAAA
TTTTAAATTGTATTATTGCTGATTCAATTTGCATCATTCTAATTGCTCATCCTCTTTGGCAGTGGATTAATTCACTGTTGGGTTAATATG
CATCTCATGAAATGATATCTTTTCATTCCTTTGTATACCTGTATTAGGTCAGTATACGCTTTCCATGAAATATATTTGCATTTCTAATAT
AGTTTACATTTATTAAGTTATAACGTATGACATTTTTCCCAATATCATTTTTTATACATTTTAATTACTTAATGTTTTAAGAGTTCTCTT
CCAGAGTTTTGCTTTTCAATTACGTTTAAAGACTGTAAATAACAAACAGTAAGGCTGGGCGCTGTGGCTTACGCCTGTAATCCCAGCACT
TTGGAAGGCCAAGGCACGTGGATCACTTTAGGTCAGGAGTTCAAGAACAGCCTGGCCAACATGGAAAACCCCATCTCTACAAAAAATACA
AAAATTAGTTGGATGTGGTGGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCATGAGAATAGCTTGAAACCAGGAGGTGGAGGCTGTAG
TGAGCCAGATAGCACCACTGCACTCCAGCCAGGATGACAGAGCAAGACCCTGTCTCAGAAAAAACAAAAACAAAACACTGTAAATGTATC
ATGTTTCTCACTGCTTTCTATGTTAATGCTGTGTAAATACTTAAAATGGAATACTGTATAAATATTATTTATATTTTCTCAGATGAAAAT
ATATACTAAAACATTTGGTATTTCTGTTTTCTGTTTCATTAATGTATATCTGATGGAGTACCATTTAGGAATATAACATTATTGGGGCAG
AGGTCCCAGCCATTGCCAAAGTTGAATCTTTTACATTTCCCTGAATCTTGAGGATGACTGAAAAGGAAGTCTTTGAAACTGCAGTTTCTG
AAGGATCACAGTACAGGAATGCCTTTATAAAAGCTGCAGAGATAAATACATGTACTTATATGGCATGGATATTTAAAACCACTCACTCAG
AAGCATATGAAAGAAATTCAACCATCATTCAACATAGAAGAAGTTAATTTTAGTGCAAAAGTTTTTAAGTATTAAATTTCACAATAAAGG
ATCAATTGGCTTACTTGCTGATAAATTAAAACAGAAAACATTTAAAATCA

>3145_3145_2_AHSA1-TMEM67_AHSA1_chr14_77931029_ENST00000535854_TMEM67_chr8_94770711_ENST00000453321_length(amino acids)=1078AA_BP=187
MAKWGEGDPRWIVEERADATNVNNWHWTERDASNWSTDKLKTLFLAVQVQNEEGKCEVTEVSKLDGEASINNRKGKLIFFYEWSVKLNWT
GTSKSGVQYKGHVEIPNLSDENSVDEVEISVSLAKDEPDTNLVALMKEEGVKLLREAMGIYISTLKTEFTQGMILPTMNGESVDPVGQPA
LKTEERKKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACS
EPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFEN
TAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAA
YSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGT
QPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWK
RRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVF
FIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPY
SCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLC
SQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILG
MEFMEPMEKSIFYNDEGYSFSSVLYYGNEATLLIFDLLFFCVVDLACQNFILASFLTYLQQEIFRYIRNTVGQKNLASKTLVDQRFLI

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Fusion Gene PPI Analysis for AHSA1-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


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 AHSA1-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 AHSA1-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