|
Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:AHSA1-TMEM67 (FusionGDB2 ID:3254) |
Fusion Gene Summary for AHSA1-TMEM67 |
Fusion gene summary |
Fusion gene information | Fusion gene name: AHSA1-TMEM67 | Fusion gene ID: 3254 | Hgene | Tgene | Gene symbol | AHSA1 | TMEM67 | Gene ID | 10598 | 91147 |
Gene name | activator of HSP90 ATPase activity 1 | transmembrane protein 67 | |
Synonyms | AHA1|C14orf3|hAha1|p38 | JBTS6|MECKELIN|MKS3|NPHP11|TNEM67 | |
Cytomap | 14q24.3 | 8q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | activator of 90 kDa heat shock protein ATPase homolog 1AHA1, activator of heat shock 90kDa protein ATPase homolog 1 | meckelinmeckel syndrome type 3 protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | O95433 | . | |
Ensembl transtripts involved in fusion gene | ENST00000216479, ENST00000535854, ENST00000555517, ENST00000555457, | ENST00000453321, ENST00000409623, ENST00000425545, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 7 X 4=112 |
# samples | 2 | 5 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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 breakpoint | AHSA1(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | AHSA1 | GO:0032781 | positive regulation of ATPase activity | 29127155 |
Fusion 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. |
Fusion 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. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | PRAD | TCGA-HC-7212-01A | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
Top |
Fusion Gene ORF analysis for AHSA1-TMEM67 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000216479 | ENST00000453321 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
5CDS-5UTR | ENST00000216479 | ENST00000409623 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
5CDS-intron | ENST00000216479 | ENST00000425545 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
In-frame | ENST00000535854 | ENST00000453321 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
5CDS-5UTR | ENST00000535854 | ENST00000409623 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
5CDS-intron | ENST00000535854 | ENST00000425545 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
intron-3CDS | ENST00000555517 | ENST00000453321 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
intron-5UTR | ENST00000555517 | ENST00000409623 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
intron-intron | ENST00000555517 | ENST00000425545 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
intron-3CDS | ENST00000555457 | ENST00000453321 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
intron-5UTR | ENST00000555457 | ENST00000409623 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
intron-intron | ENST00000555457 | ENST00000425545 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000216479 | AHSA1 | chr14 | 77931029 | + | ENST00000453321 | TMEM67 | chr8 | 94770711 | + | 5002 | 721 | 160 | 3396 | 1078 |
ENST00000535854 | AHSA1 | chr14 | 77931029 | + | ENST00000453321 | TMEM67 | chr8 | 94770711 | + | 5000 | 719 | 158 | 3394 | 1078 |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000216479 | ENST00000453321 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + | 7.43E-05 | 0.99992573 |
ENST00000535854 | ENST00000453321 | AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770711 | + | 7.44E-05 | 0.9999256 |
Top |
Fusion Genomic Features for AHSA1-TMEM67 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770714 | + | 2.45E-07 | 0.99999976 |
AHSA1 | chr14 | 77931029 | + | TMEM67 | chr8 | 94770714 | + | 2.45E-07 | 0.99999976 |
Distribution 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. |
Distribution 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. |
Top |
Fusion Protein Features for AHSA1-TMEM67 |
Go to FGviewer for the breakpoints of 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
AHSA1 | . |
FUNCTION: Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co-chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:27353360). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). {ECO:0000269|PubMed:27353360, ECO:0000269|PubMed:29127155}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000409623 | 1 | 29 | 526_546 | 0 | 915.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000409623 | 1 | 29 | 570_590 | 0 | 915.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000409623 | 1 | 29 | 609_629 | 0 | 915.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000409623 | 1 | 29 | 689_709 | 0 | 915.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000409623 | 1 | 29 | 734_754 | 0 | 915.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000409623 | 1 | 29 | 939_959 | 0 | 915.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000453321 | 1 | 28 | 526_546 | 104.0 | 996.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000453321 | 1 | 28 | 570_590 | 104.0 | 996.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000453321 | 1 | 28 | 609_629 | 104.0 | 996.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000453321 | 1 | 28 | 689_709 | 104.0 | 996.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000453321 | 1 | 28 | 734_754 | 104.0 | 996.0 | Transmembrane | Helical | |
Tgene | TMEM67 | chr14:77931029 | chr8:94770711 | ENST00000453321 | 1 | 28 | 939_959 | 104.0 | 996.0 | Transmembrane | Helical |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
Fusion Gene Sequence for AHSA1-TMEM67 |
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. |
>In-frame_ENST00000216479_ENST00000453321_TCGA-HC-7212-01A_AHSA1_chr14_77931029_+_TMEM67_chr8_94770711_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 >In-frame_ENST00000216479_ENST00000453321_TCGA-HC-7212-01A_AHSA1_chr14_77931029_+_TMEM67_chr8_94770711_length(amino acids)=1078AA_start in transcript=160_stop in transcript=3396 MAKWGEGDPRWIVEERADATNVNNWHWTERDASNWSTDKLKTLFLAVQVQNEEGKCEVTEVSKLDGEASINNRKGKLIFFYEWSVKLNWT GTSKSGVQYKGHVEIPNLSDENSVDEVEISVSLAKDEPDTNLVALMKEEGVKLLREAMGIYISTLKTEFTQGMILPTMNGESVDPVGQPA LKTEERKKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACS EPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFEN TAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAA YSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGT QPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWK RRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVF FIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPY SCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLC SQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILG -------------------------------------------------------------- >In-frame_ENST00000535854_ENST00000453321_TCGA-HC-7212-01A_AHSA1_chr14_77931029_+_TMEM67_chr8_94770711_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 >In-frame_ENST00000535854_ENST00000453321_TCGA-HC-7212-01A_AHSA1_chr14_77931029_+_TMEM67_chr8_94770711_length(amino acids)=1078AA_start in transcript=158_stop in transcript=3394 MAKWGEGDPRWIVEERADATNVNNWHWTERDASNWSTDKLKTLFLAVQVQNEEGKCEVTEVSKLDGEASINNRKGKLIFFYEWSVKLNWT GTSKSGVQYKGHVEIPNLSDENSVDEVEISVSLAKDEPDTNLVALMKEEGVKLLREAMGIYISTLKTEFTQGMILPTMNGESVDPVGQPA LKTEERKKGVTEDGWNCISCPSDLTAEGKCHCPIGHILVERDINGTLLSQATCELCDGNENSFMVVNALGDRCVRCEPTFVNTSRSCACS EPNILTGGLCFSSTGNFPLRRISAARYGEVGMSLTSEWFAKYLQSSAAACWVYANLTSCQALGNMCVMNMNSYDFATFDACGLFQFIFEN TAGLSTVHSISFWRQNLPWLFYGDQLGLAPQVLSSTSLPTNFSFKGENQNTKLKFVAASYDIRGNFLKWQTLEGGVLQLCPDTETRLNAA YSFGTTYQQNCEIPISKILIDFPTPIFYDVYLEYTDENQHQYILAVPVLNLNLQHNKIFVNQDSNSGKWLLTRRIFLVDAVSGRENDLGT QPRVIRVATQISLSVHLVPNTINGNIYPPLITIAYSDIDIKDANSQSVKVSFSVTYEMDHGEAHVQTDIALGVLGGLAVLASLLKTAGWK RRIGSPMIDLQTVVKFLVYYAGDLANVFFIITVGTGLYWLIFFKAQKSVSVLLPMPIQEERFVTYVGCAFALKALQFLHKLISQITIDVF FIDWERPKGKVLKAVEGEGGVRSATVPVSIWRTYFVANEWNEIQTVRKINSLFQVLTVLFFLEVVGFKNLALMDSSSSLSRNPPSYIAPY SCILRYAVSAALWLAIGIIQVVFFAVFYERFIEDKIRQFVDLCSMSNISVFLLSHKCFGYYIHGRSVHGHADTNMEEMNMNLKREAENLC SQRGLVPNTDGQTFEIAISNQMRQHYDRIHETLIRKNGPARLLSSSASTFEQSIKAYHMMNKFLGSFIDHVHKEMDYFIKDKLLLERILG -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for AHSA1-TMEM67 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for AHSA1-TMEM67 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for AHSA1-TMEM67 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TMEM67 | C1846357 | Meckel syndrome type 3 | 11 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | TMEM67 | C1857662 | COACH syndrome | 11 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | TMEM67 | C1853153 | JOUBERT SYNDROME 6 | 10 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | TMEM67 | C3150796 | NEPHRONOPHTHISIS 11 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Tgene | TMEM67 | C0431399 | Familial aplasia of the vermis | 5 | GENOMICS_ENGLAND;ORPHANET |
Tgene | TMEM67 | C0687120 | Nephronophthisis | 4 | GENOMICS_ENGLAND |
Tgene | TMEM67 | C3714506 | Meckel syndrome type 1 | 4 | GENOMICS_ENGLAND |
Tgene | TMEM67 | C0265215 | Meckel-Gruber syndrome | 3 | ORPHANET |
Tgene | TMEM67 | C2673874 | BARDET-BIEDL SYNDROME 14 (disorder) | 3 | CTD_human;GENOMICS_ENGLAND |
Tgene | TMEM67 | C0009714 | Hepatic Fibrosis, Congenital | 2 | GENOMICS_ENGLAND |
Tgene | TMEM67 | C0022679 | Cystic kidney | 1 | CTD_human |
Tgene | TMEM67 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | TMEM67 | C0239946 | Fibrosis, Liver | 1 | CTD_human |
Tgene | TMEM67 | C0752166 | Bardet-Biedl Syndrome | 1 | CTD_human |
Tgene | TMEM67 | C1691228 | Cystic Kidney Diseases | 1 | CTD_human |
Tgene | TMEM67 | C1865794 | RHYNS syndrome | 1 | GENOMICS_ENGLAND;UNIPROT |
Tgene | TMEM67 | C4551568 | Joubert syndrome 1 | 1 | ORPHANET |