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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:CARKD-MYO16 (FusionGDB2 ID:HG55739TG23026)

Fusion Gene Summary for CARKD-MYO16

check button Fusion gene summary
Fusion gene informationFusion gene name: CARKD-MYO16
Fusion gene ID: hg55739tg23026
HgeneTgene
Gene symbol

CARKD

MYO16

Gene ID

55739

23026

Gene nameNAD(P)HX dehydratasemyosin XVI
SynonymsCARKD|LP3298|PEBEL2MYAP3|MYR8|Myo16b|NYAP3|PPP1R107
Cytomap('CARKD')('MYO16')

13q34

13q33.3

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent (S)-NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)HX dehydratasecarbohydrate kinase domain containingcarbohydrate kinase domain-containing proteinunconventional myosin-XVIMYO16 variant proteinmyosin heavy chain Myr 8neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adapter 3neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3protein phosphatase 1, regulatory subunit 10
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000470164, ENST00000397191, 
ENST00000424185, ENST00000458711, 
ENST00000309957, 
Fusion gene scores* DoF score4 X 1 X 2=818 X 19 X 10=3420
# samples 421
** MAII scorelog2(4/8*10)=2.32192809488736log2(21/3420*10)=-4.02553509210714
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CARKD [Title/Abstract] AND MYO16 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCARKD(111267994)-MYO16(109610036), # samples:1
Anticipated loss of major functional domain due to fusion event.CARKD-MYO16 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-MYO16 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-MYO16 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-MYO16 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CARKD-MYO16 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 CARKD (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 MYO16 (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
ChimerDB4UCSTCGA-N5-A4RD-01ACARKDchr13

111267994

-MYO16chr13

109610036

+


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Fusion Gene ORF analysis for CARKD-MYO16

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
3UTR-3CDSENST00000470164ENST00000251041CARKDchr13

111267994

-MYO16chr13

109610036

+
3UTR-3CDSENST00000470164ENST00000356711CARKDchr13

111267994

-MYO16chr13

109610036

+
3UTR-3CDSENST00000470164ENST00000357550CARKDchr13

111267994

-MYO16chr13

109610036

+
3UTR-3CDSENST00000470164ENST00000457511CARKDchr13

111267994

-MYO16chr13

109610036

+
3UTR-intronENST00000470164ENST00000467639CARKDchr13

111267994

-MYO16chr13

109610036

+
5CDS-intronENST00000397191ENST00000467639CARKDchr13

111267994

-MYO16chr13

109610036

+
5CDS-intronENST00000424185ENST00000467639CARKDchr13

111267994

-MYO16chr13

109610036

+
5CDS-intronENST00000458711ENST00000467639CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000397191ENST00000251041CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000397191ENST00000356711CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000397191ENST00000357550CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000397191ENST00000457511CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000458711ENST00000251041CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000458711ENST00000356711CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000458711ENST00000357550CARKDchr13

111267994

-MYO16chr13

109610036

+
Frame-shiftENST00000458711ENST00000457511CARKDchr13

111267994

-MYO16chr13

109610036

+
In-frameENST00000424185ENST00000251041CARKDchr13

111267994

-MYO16chr13

109610036

+
In-frameENST00000424185ENST00000356711CARKDchr13

111267994

-MYO16chr13

109610036

+
In-frameENST00000424185ENST00000357550CARKDchr13

111267994

-MYO16chr13

109610036

+
In-frameENST00000424185ENST00000457511CARKDchr13

111267994

-MYO16chr13

109610036

+
intron-3CDSENST00000309957ENST00000251041CARKDchr13

111267994

-MYO16chr13

109610036

+
intron-3CDSENST00000309957ENST00000356711CARKDchr13

111267994

-MYO16chr13

109610036

+
intron-3CDSENST00000309957ENST00000357550CARKDchr13

111267994

-MYO16chr13

109610036

+
intron-3CDSENST00000309957ENST00000457511CARKDchr13

111267994

-MYO16chr13

109610036

+
intron-intronENST00000309957ENST00000467639CARKDchr13

111267994

-MYO16chr13

109610036

+

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)
ENST00000424185CARKDchr13111267994-ENST00000356711MYO16chr13109610036+4962731737901257
ENST00000424185CARKDchr13111267994-ENST00000251041MYO16chr13109610036+166573171036339
ENST00000424185CARKDchr13111267994-ENST00000357550MYO16chr13109610036+4948731737901257
ENST00000424185CARKDchr13111267994-ENST00000457511MYO16chr13109610036+234073172251744

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
ENST00000424185ENST00000356711CARKDchr13111267994-MYO16chr13109610036+0.0004278510.9995721
ENST00000424185ENST00000251041CARKDchr13111267994-MYO16chr13109610036+0.0004802310.9995198
ENST00000424185ENST00000357550CARKDchr13111267994-MYO16chr13109610036+0.0004445760.9995554
ENST00000424185ENST00000457511CARKDchr13111267994-MYO16chr13109610036+0.0019891470.99801093

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Fusion Genomic Features for CARKD-MYO16


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

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Fusion Protein Features for CARKD-MYO16


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/chr13:111267994/chr13:109610036)
- 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
TgeneMYO16chr13:111267994chr13:109610036ENST0000025104114241389_1671619941.0Compositional biasPro-rich
TgeneMYO16chr13:111267994chr13:109610036ENST0000035671115351389_16716191859.0Compositional biasPro-rich
TgeneMYO16chr13:111267994chr13:109610036ENST0000035755014341389_16716191859.0Compositional biasPro-rich
TgeneMYO16chr13:111267994chr13:109610036ENST0000025104114241147_1176619941.0DomainIQ
TgeneMYO16chr13:111267994chr13:109610036ENST0000035671115351147_11766191859.0DomainIQ
TgeneMYO16chr13:111267994chr13:109610036ENST0000035755014341147_11766191859.0DomainIQ
TgeneMYO16chr13:111267994chr13:109610036ENST0000025104114241111_1377619941.0RegionInvolved in CYFIP1- and NCKAP1-binding
TgeneMYO16chr13:111267994chr13:109610036ENST0000035671115351111_13776191859.0RegionInvolved in CYFIP1- and NCKAP1-binding
TgeneMYO16chr13:111267994chr13:109610036ENST0000035755014341111_13776191859.0RegionInvolved in CYFIP1- and NCKAP1-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCARKDchr13:111267994chr13:109610036ENST00000309957-11053_3440391.0DomainYjeF C-terminal
HgeneCARKDchr13:111267994chr13:109610036ENST00000424185-1753_34418238.0DomainYjeF C-terminal
HgeneCARKDchr13:111267994chr13:109610036ENST00000309957-110246_2500391.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:109610036ENST00000309957-110265_2740391.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:109610036ENST00000424185-17246_25018238.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:109610036ENST00000424185-17265_27418238.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:109610036ENST00000309957-110206_2120391.0RegionNAD(P)HX
HgeneCARKDchr13:111267994chr13:109610036ENST00000424185-17206_21218238.0RegionNAD(P)HX
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424401_1145619941.0DomainMyosin motor
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535401_11456191859.0DomainMyosin motor
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434401_11456191859.0DomainMyosin motor
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424497_504619941.0Nucleotide bindingATP
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535497_5046191859.0Nucleotide bindingATP
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434497_5046191859.0Nucleotide bindingATP
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424125_154619941.0RepeatANK 3
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424158_189619941.0RepeatANK 4
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424191_217619941.0RepeatANK 5
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424221_250619941.0RepeatANK 6
TgeneMYO16chr13:111267994chr13:109610036ENST000002510411424254_283619941.0RepeatANK 7
TgeneMYO16chr13:111267994chr13:109610036ENST00000251041142459_88619941.0RepeatANK 1
TgeneMYO16chr13:111267994chr13:109610036ENST00000251041142492_121619941.0RepeatANK 2
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535125_1546191859.0RepeatANK 3
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535158_1896191859.0RepeatANK 4
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535191_2176191859.0RepeatANK 5
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535221_2506191859.0RepeatANK 6
TgeneMYO16chr13:111267994chr13:109610036ENST000003567111535254_2836191859.0RepeatANK 7
TgeneMYO16chr13:111267994chr13:109610036ENST00000356711153559_886191859.0RepeatANK 1
TgeneMYO16chr13:111267994chr13:109610036ENST00000356711153592_1216191859.0RepeatANK 2
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434125_1546191859.0RepeatANK 3
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434158_1896191859.0RepeatANK 4
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434191_2176191859.0RepeatANK 5
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434221_2506191859.0RepeatANK 6
TgeneMYO16chr13:111267994chr13:109610036ENST000003575501434254_2836191859.0RepeatANK 7
TgeneMYO16chr13:111267994chr13:109610036ENST00000357550143459_886191859.0RepeatANK 1
TgeneMYO16chr13:111267994chr13:109610036ENST00000357550143492_1216191859.0RepeatANK 2


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Fusion Gene Sequence for CARKD-MYO16


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.
>13050_13050_1_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000251041_length(transcript)=1665nt_BP=73nt
GCAGCTGGGAATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGTATTTGAACCAGACCA
TACAGGATGATGCATCCACAGGGGAGCGTTCTCTGAACAGGGAGAAATTGGCTGTTTTGAAACGAGCCCTGAATGTAGTTGGCTTCAGCA
GCTTGGAGGTGGAGAATCTGTTCGTAATTCTAGCAGCAATATTGCACCTTGGAGACATTCGGTTTACTGCCCTGAATGAGGGGAACTCCG
CCTTCGTTTCTGACCTCCAGCTCCTGGAACAAGTGGCTGGAATGTTACAAGTATCAACAGATGAATTGGCATCTGCCTTAACAACTGATA
TTCAATATTTTAAAGGGGATATGATAATACGACGACATACCATACAGATTGCTGAGTTTTTCCGAGACCTCTTGGCCAAGTCCCTGTACA
GTCGTTTGTTTAGCTTTTTGGTGAATACCATGAATTCTTGCCTCCACAGTCAAGATGAACAGAAAAGCATGCAGACATTGGATATTGGAA
TATTGGACATTTTTGGTTTTGAAGAGTTTCAAAAGAATGAATTTGAACAACTTTGTGTCAACATGACCAATGAGAAGATGCACCACTATA
TCAATGAAGTGCTTTTTCTCCACGAGCAAGTGGAATGTGTACAAGAGGGAGTTACCATGGAAACAGCATATTCTCCTGGTAACCAGAATG
GAGTTTTGGACTTTTTTTTCCAGAAGCCATCTGGATTTCTCACCTTATTGGATGAAGAAAGTCAAATGATTTGGTCAGTGGAATCAAATT
TTCCAAAAAAACTACAAAGTCTCCTAGAATCCTCAAACACAAATGCGGTGTACTCCCCCATGAAGGATGGGAATGGGAATGTTGCCCTCA
AAGACCACGGTACAGCCTTCACCATCATGCACTACGCAGGAAGGGTAATGTATGATGTTGTTGGGGCGATTGAAAAAAATAAAGACTCCC
TTTCACAGAATCTTCTATTTGTAATGAAAAGAGGAAGGTGCTTCTGAGCAAAAGGACAGAATTTACAATGTACCCTTTTGTATTTATACA
GGAGGTGTCAGATTTTTTTTTTTGTAAAGGGCTAGAGAATAAATATTTTAGACCTTGTGCACCATAAGATCCTTGTTGCAGTTACTCACC
TCTGCTGTTATAATGTGAAAAACAGCTGTAGACAATACAAATGGATGTGACTGTATTCTGATAAAATTTTATTTACAAAAACAGGCAGTG
GGCCATGTTTGGCTCAGGAGCCATGATTGCTCACTCACTCTATCATAAAAGCAAAATATTTGTGGTTGCCATCATGTTTTATGAATCTGT
GAAATACTTTGATGCTTGTACATATTTATTAAAAGCAAGTGTAATTCATAAATAATAATTTTTATTTGCAGGTACTTTGCTTATAGTATC
TAATTCAATTTTCGTAGCATCAAAAAGCTCCCAGTTGAGGAAGATGGTGAGGTCTGTTGTAGAATGTACACAAGCAGAGCTGAGTCTCTG
AGACCACTAACCAGGTACAGTCAGGGAGCTTGGAGACAGCTCATAGAGACACACAGCAAATACACTCATTAGTGCCTAAGATTAGAAGTA

>13050_13050_1_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000251041_length(amino acids)=339AA_BP=18
MLPDGPGSSLWGNPGLQTRYLNQTIQDDASTGERSLNREKLAVLKRALNVVGFSSLEVENLFVILAAILHLGDIRFTALNEGNSAFVSDL
QLLEQVAGMLQVSTDELASALTTDIQYFKGDMIIRRHTIQIAEFFRDLLAKSLYSRLFSFLVNTMNSCLHSQDEQKSMQTLDIGILDIFG
FEEFQKNEFEQLCVNMTNEKMHHYINEVLFLHEQVECVQEGVTMETAYSPGNQNGVLDFFFQKPSGFLTLLDEESQMIWSVESNFPKKLQ

--------------------------------------------------------------
>13050_13050_2_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000356711_length(transcript)=4962nt_BP=73nt
GCAGCTGGGAATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGTATTTGAACCAGACCA
TACAGGATGATGCATCCACAGGGGAGCGTTCTCTGAACAGGGAGAAATTGGCTGTTTTGAAACGAGCCCTGAATGTAGTTGGCTTCAGCA
GCTTGGAGGTGGAGAATCTGTTCGTAATTCTAGCAGCAATATTGCACCTTGGAGACATTCGGTTTACTGCCCTGAATGAGGGGAACTCCG
CCTTCGTTTCTGACCTCCAGCTCCTGGAACAAGTGGCTGGAATGTTACAAGTATCAACAGATGAATTGGCATCTGCCTTAACAACTGATA
TTCAATATTTTAAAGGGGATATGATAATACGACGACATACCATACAGATTGCTGAGTTTTTCCGAGACCTCTTGGCCAAGTCCCTGTACA
GTCGTTTGTTTAGCTTTTTGGTGAATACCATGAATTCTTGCCTCCACAGTCAAGATGAACAGAAAAGCATGCAGACATTGGATATTGGAA
TATTGGACATTTTTGGTTTTGAAGAGTTTCAAAAGAATGAATTTGAACAACTTTGTGTCAACATGACCAATGAGAAGATGCACCACTATA
TCAATGAAGTGCTTTTTCTCCACGAGCAAGTGGAATGTGTACAAGAGGGAGTTACCATGGAAACAGCATATTCTCCTGGTAACCAGAATG
GAGTTTTGGACTTTTTTTTCCAGAAGCCATCTGGATTTCTCACCTTATTGGATGAAGAAAGTCAAATGATTTGGTCAGTGGAATCAAATT
TTCCAAAAAAACTACAAAGTCTCCTAGAATCCTCAAACACAAATGCGGTGTACTCCCCCATGAAGGATGGGAATGGGAATGTTGCCCTCA
AAGACCACGGTACAGCCTTCACCATCATGCACTACGCAGGAAGGGTAATGTATGATGTTGTTGGGGCGATTGAAAAAAATAAAGACTCCC
TTTCACAGAATCTTCTATTTGTAATGAAAACTAGTGAAAATGTCGTGATCAATCATTTGTTCCAGTCGAAATTGTCACAAACAGGATCCC
TCGTATCTGCCTATCCTTCCTTTAAATTCCGAGGACATAAGTCTGCCCTGCTCAGTAAGAAAATGACAGCTTCTTCAATTATTGGAGAAA
ACAAGAATTATCTAGAACTTAGTAAGTTATTAAAAAAGAAAGGAACTTCTACATTTCTTCAAAGATTGGAACGAGGAGATCCAGTCACCA
TAGCATCACAACTCAGGAAATCACTAATGGATATTATTGGAAAACTTCAGAAGTGCACTCCACACTTCATTCATTGCATCAGGCCCAATA
ACTCAAAGCTGCCAGATACTTTTGATAATTTTTACGTGTCTGCTCAGCTACAATATATTGGGGTCCTGGAGATGGTGAAGATCTTCCGAT
ATGGATACCCTGTTCGCCTTTCCTTCTCGGATTTCCTGTCAAGGTATAAGCCACTGGCTGATACATTCCTGCGTGAGAAGAAGGAACAGT
CAGCTGCCGAGCGATGTCGACTTGTTCTCCAGCAGTGTAAATTACAAGGCTGGCAGATGGGAGTCCGAAAAGTGTTTCTAAAATACTGGC
ATGCTGACCAACTCAATGATTTGTGCCTACAGTTGCAGAGAAAAATTATAACCTGCCAAAAAGTTATCAGAGGATTTTTAGCACGCCAGC
ACCTGCTTCAGAGAATAAGCATCAGACAACAAGAGGTGACTTCTATCAATAGCTTTCTGCAGAACACAGAGGACATGGGGCTGAAAACCT
ACGATGCCCTGGTCATTCAGAATGCTTCAGACATTGCCCGGGAAAATGACCGGCTCCGTAGTGAAATGAACGCTCCCTACCATAAAGAGA
AGTTAGAGGTCAGGAACATGCAAGAGGAAGGAAGCAAAAGAACCGATGACAAGAGTGGACCCAGGCATTTCCACCCCAGCTCCATGTCAG
TCTGCGCGGCCGTGGATGGCCTGGGCCAGTGCCTCGTTGGCCCGTCCATCTGGTCTCCTTCGCTGCACTCGGTGTTCAGCATGGATGACA
GCAGCAGCCTCCCGTCTCCACGGAAACAGCCCCCGCCCAAGCCAAAGAGGGACCCCAACACCCGGCTGAGTGCTTCCTATGAGGCTGTGA
GCGCCTGCCTCTCCGCGGCCAGGGAAGCGGCCAACGAAGCTCTGGCCCGGCCCAGACCGCACAGCGACGACTACAGCACCATGAAGAAGA
TTCCTCCTCGAAAGCCCAAGCGCAGCCCCAACACCAAGCTCAGCGGCTCCTACGAGGAGATATCGGGGTCCCGGCCCGGGGACGCGAGGC
CCGCGGGCGCCCCGGGGGCAGCAGCGCGCGTTCTGACCCCCGGGACTCCGCAGTGCGCGCTGCCCCCGGCGGCGCCTCCGGGTGACGAGG
ACGACAGCGAGCCTGTGTACATCGAGATGCTGGGGCACGCGGCCAGGCCCGATAGCCCGGACCCCGGGGAGTCCGTGTACGAGGAGATGA
AGTGTTGCCTGCCCGACGACGGCGGCCCGGGCGCGGGCTCCTTCCTGCTCCACGGCGCATCGCCGCCCCTGCTCCACCGCGCGCCGGAGG
ACGAGGCGGCGGGGCCCCCAGGGGACGCGTGCGACATCCCGCCGCCCTTCCCCAACCTGCTGCCGCACCGGCCGCCCCTGCTGGTGTTCC
CCCCGACCCCCGTCACCTGCTCCCCCGCCTCCGACGAGTCGCCCCTGACACCCCTGGAGGTGAAGAAGCTGCCAGTCCTGGAGACCAACC
TCAAGTACCCCGTGCAGCCGGAGGGGTCGAGCCCGCTGTCCCCGCAGTACTCCAAGAGCCAGAAGGGCGACGGCGACAGGCCCGCGTCCC
CCGGCCTGGCGCTGTTCAACGGGTCCGGCCGAGCCTCCCCGCCGTCCACGCCGCCCCCGCCCCCGCCCCCGCCCGGGCCGCCCCCCGCGC
CCTACAGGCCCTGCGCGCACTTGGCCTTCCCGCCGGAGCCCGCCCCGGTGAACGCGGGGAAAGCGGGGCCGAGCGCAGAGGCGCCCAAGG
TTCACCCAAAGCCAAACTCTGCCCCCGTGGCCGGGCCCTGCAGCTCCTTCCCCAAGATCCCATATTCCCCCGTGAAGGCCACCAGGGCGG
ACGCCAGGAAGGCCGGCTCCAGTGCCTCGCCCCCCGCGCCCTACAGCCCTCCCAGCTCCAGGCCTCTCAGCAGCCCCCTGGACGAGCTCG
CCAGCCTCTTCAACTCGGGGAGGAGTGTGCTTCGGAAATCCGCGGCGGGAAGAAAAATCAGGGAAGCAGAAGGTTTTGAAACTAACATGA
ACATAAGTAGCCGAGATGACCCTAGTACGTCAGAAATTACTTCCGAGACTCAAGACAGAAATGCAAATAACCATGGAATTCAGTTATCTA
ATTCACTATCTAGTGCTATAACTGCTGAAAATGGAAATTCCATCTCAAATGGTTTACCTGAAGAAGATGGATACTCACGGTTGTCTATAA
GTGGCACAGGGACTTCGACATTTCAAAGACACAGGGACAGTCACACCACTCAGGTAATCCATCAGCTGAGGCTCTCAGAGAATGAAAGTG
TGGCCCTGCAGGAACTCTTGGACTGGAGGAGAAAGCTCTGTGAGGAAGGACAAGACTGGCAGCAGATCCTGCACCACGCTGAGCCCAGGG
TGCCTCCCCCACCACCTTGCAAGAAGCCCAGCCTTCTGAAGAAGCCGGAAGGGGCCTCCTGCAACAGGCTGCCGTCTGAGCTCTGGGACA
CCACCATTTGATGTGGCCTGAACTGCAGACTTACAAAATAGAACTGCCTACTGATTCCGGGCTGCAACAACAGAAGGCTGCCTTCTGACA
TGCGCTGGGGCTTCTCTCCACGCATTTAGACAAAAAAAGCACAGGACACAGACACTAAATATATGAGATCCCGTGTGTGTGTGTGTGTGT
TTGTGTGTGTGTGTGTGGGTTCTTTCTTATCCATCTCGTGGTGATACACTCTGATTTTCAAGCTCCTCATTTACGGCTCTGTGCTACCCC
TAGGTAGCAAGAGAGAGGCTGGGAAAAGTGTGGACGTGGCCAGAGCGAGAGAGTAGCGGAGGAAAGGAGCAATCCATGCACACTCTGTAC
AGTTGTTTTTCTACGGTTCAACAGTCTGTTTATTGTACTTCCAATGGTTTTATTATAATACAGTATACGGGACATATATTTTATTTCTTT
GTAGCTACTTGTGTTTTATTGGTATTATAAACCTGATAATTATTTACATGTTTATTACTGTAATTTTATAAATTTATGCAATTGGTGGTG
CTTCCTTTCTTCAAAATACAGATTTTAAAAAATCATTTCTAGATTATTTTTTTCCTCCACAGTCCTTTTTTTTCACCTAACGCACCTAAA
TCTTGAAACTACATTGTTGTTTTAGCTTCGCCAGTGTCACCCCTTGCAAAACTATGAATTGAGCCCCATGTTTTAGGTGTTACTCATGGA
TGAGGAGGCTGTTCTTTCCTATGCCCTGTATTTCTGGATAAGTGGATTGTGTACCCTTTAGTTAAATTTCACCTCCCGACTTCAGCATAG
ATCACAGGAAATCACATGGCACACGGTTAAACACGTATGGCTTCAAATCCATAGCCGGTGGTGTAAAATGATCATATTCATTCAAAGGCC
TACACAGTACAAATGAGCACGCTGCCATGTACTGGTTTGAGCAGTAGGGGCTGCATCGCACAGCGCTCGTCCCCCGGGACTTACACTGCA
TGATTCCCTCACTGTATATCCTCAACCCTCCCATAATGCAAGGCCTTGTTCATTGATGTGCTTTCGTCGGCTGTCGGAAAGTTCTGAGCA
GTGGCTCCAGACCACCTTGTCTTGCTACTTGGAACTTTTTATTCATACCAGCCTTTGAAAAGTTACTGTGCCAATAAAGAGGTACAACTG

>13050_13050_2_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000356711_length(amino acids)=1257AA_BP=18
MLPDGPGSSLWGNPGLQTRYLNQTIQDDASTGERSLNREKLAVLKRALNVVGFSSLEVENLFVILAAILHLGDIRFTALNEGNSAFVSDL
QLLEQVAGMLQVSTDELASALTTDIQYFKGDMIIRRHTIQIAEFFRDLLAKSLYSRLFSFLVNTMNSCLHSQDEQKSMQTLDIGILDIFG
FEEFQKNEFEQLCVNMTNEKMHHYINEVLFLHEQVECVQEGVTMETAYSPGNQNGVLDFFFQKPSGFLTLLDEESQMIWSVESNFPKKLQ
SLLESSNTNAVYSPMKDGNGNVALKDHGTAFTIMHYAGRVMYDVVGAIEKNKDSLSQNLLFVMKTSENVVINHLFQSKLSQTGSLVSAYP
SFKFRGHKSALLSKKMTASSIIGENKNYLELSKLLKKKGTSTFLQRLERGDPVTIASQLRKSLMDIIGKLQKCTPHFIHCIRPNNSKLPD
TFDNFYVSAQLQYIGVLEMVKIFRYGYPVRLSFSDFLSRYKPLADTFLREKKEQSAAERCRLVLQQCKLQGWQMGVRKVFLKYWHADQLN
DLCLQLQRKIITCQKVIRGFLARQHLLQRISIRQQEVTSINSFLQNTEDMGLKTYDALVIQNASDIARENDRLRSEMNAPYHKEKLEVRN
MQEEGSKRTDDKSGPRHFHPSSMSVCAAVDGLGQCLVGPSIWSPSLHSVFSMDDSSSLPSPRKQPPPKPKRDPNTRLSASYEAVSACLSA
AREAANEALARPRPHSDDYSTMKKIPPRKPKRSPNTKLSGSYEEISGSRPGDARPAGAPGAAARVLTPGTPQCALPPAAPPGDEDDSEPV
YIEMLGHAARPDSPDPGESVYEEMKCCLPDDGGPGAGSFLLHGASPPLLHRAPEDEAAGPPGDACDIPPPFPNLLPHRPPLLVFPPTPVT
CSPASDESPLTPLEVKKLPVLETNLKYPVQPEGSSPLSPQYSKSQKGDGDRPASPGLALFNGSGRASPPSTPPPPPPPPGPPPAPYRPCA
HLAFPPEPAPVNAGKAGPSAEAPKVHPKPNSAPVAGPCSSFPKIPYSPVKATRADARKAGSSASPPAPYSPPSSRPLSSPLDELASLFNS
GRSVLRKSAAGRKIREAEGFETNMNISSRDDPSTSEITSETQDRNANNHGIQLSNSLSSAITAENGNSISNGLPEEDGYSRLSISGTGTS

--------------------------------------------------------------
>13050_13050_3_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000357550_length(transcript)=4948nt_BP=73nt
GCAGCTGGGAATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGTATTTGAACCAGACCA
TACAGGATGATGCATCCACAGGGGAGCGTTCTCTGAACAGGGAGAAATTGGCTGTTTTGAAACGAGCCCTGAATGTAGTTGGCTTCAGCA
GCTTGGAGGTGGAGAATCTGTTCGTAATTCTAGCAGCAATATTGCACCTTGGAGACATTCGGTTTACTGCCCTGAATGAGGGGAACTCCG
CCTTCGTTTCTGACCTCCAGCTCCTGGAACAAGTGGCTGGAATGTTACAAGTATCAACAGATGAATTGGCATCTGCCTTAACAACTGATA
TTCAATATTTTAAAGGGGATATGATAATACGACGACATACCATACAGATTGCTGAGTTTTTCCGAGACCTCTTGGCCAAGTCCCTGTACA
GTCGTTTGTTTAGCTTTTTGGTGAATACCATGAATTCTTGCCTCCACAGTCAAGATGAACAGAAAAGCATGCAGACATTGGATATTGGAA
TATTGGACATTTTTGGTTTTGAAGAGTTTCAAAAGAATGAATTTGAACAACTTTGTGTCAACATGACCAATGAGAAGATGCACCACTATA
TCAATGAAGTGCTTTTTCTCCACGAGCAAGTGGAATGTGTACAAGAGGGAGTTACCATGGAAACAGCATATTCTCCTGGTAACCAGAATG
GAGTTTTGGACTTTTTTTTCCAGAAGCCATCTGGATTTCTCACCTTATTGGATGAAGAAAGTCAAATGATTTGGTCAGTGGAATCAAATT
TTCCAAAAAAACTACAAAGTCTCCTAGAATCCTCAAACACAAATGCGGTGTACTCCCCCATGAAGGATGGGAATGGGAATGTTGCCCTCA
AAGACCACGGTACAGCCTTCACCATCATGCACTACGCAGGAAGGGTAATGTATGATGTTGTTGGGGCGATTGAAAAAAATAAAGACTCCC
TTTCACAGAATCTTCTATTTGTAATGAAAACTAGTGAAAATGTCGTGATCAATCATTTGTTCCAGTCGAAATTGTCACAAACAGGATCCC
TCGTATCTGCCTATCCTTCCTTTAAATTCCGAGGACATAAGTCTGCCCTGCTCAGTAAGAAAATGACAGCTTCTTCAATTATTGGAGAAA
ACAAGAATTATCTAGAACTTAGTAAGTTATTAAAAAAGAAAGGAACTTCTACATTTCTTCAAAGATTGGAACGAGGAGATCCAGTCACCA
TAGCATCACAACTCAGGAAATCACTAATGGATATTATTGGAAAACTTCAGAAGTGCACTCCACACTTCATTCATTGCATCAGGCCCAATA
ACTCAAAGCTGCCAGATACTTTTGATAATTTTTACGTGTCTGCTCAGCTACAATATATTGGGGTCCTGGAGATGGTGAAGATCTTCCGAT
ATGGATACCCTGTTCGCCTTTCCTTCTCGGATTTCCTGTCAAGGTATAAGCCACTGGCTGATACATTCCTGCGTGAGAAGAAGGAACAGT
CAGCTGCCGAGCGATGTCGACTTGTTCTCCAGCAGTGTAAATTACAAGGCTGGCAGATGGGAGTCCGAAAAGTGTTTCTAAAATACTGGC
ATGCTGACCAACTCAATGATTTGTGCCTACAGTTGCAGAGAAAAATTATAACCTGCCAAAAAGTTATCAGAGGATTTTTAGCACGCCAGC
ACCTGCTTCAGAGAATAAGCATCAGACAACAAGAGGTGACTTCTATCAATAGCTTTCTGCAGAACACAGAGGACATGGGGCTGAAAACCT
ACGATGCCCTGGTCATTCAGAATGCTTCAGACATTGCCCGGGAAAATGACCGGCTCCGTAGTGAAATGAACGCTCCCTACCATAAAGAGA
AGTTAGAGGTCAGGAACATGCAAGAGGAAGGAAGCAAAAGAACCGATGACAAGAGTGGACCCAGGCATTTCCACCCCAGCTCCATGTCAG
TCTGCGCGGCCGTGGATGGCCTGGGCCAGTGCCTCGTTGGCCCGTCCATCTGGTCTCCTTCGCTGCACTCGGTGTTCAGCATGGATGACA
GCAGCAGCCTCCCGTCTCCACGGAAACAGCCCCCGCCCAAGCCAAAGAGGGACCCCAACACCCGGCTGAGTGCTTCCTATGAGGCTGTGA
GCGCCTGCCTCTCCGCGGCCAGGGAAGCGGCCAACGAAGCTCTGGCCCGGCCCAGACCGCACAGCGACGACTACAGCACCATGAAGAAGA
TTCCTCCTCGAAAGCCCAAGCGCAGCCCCAACACCAAGCTCAGCGGCTCCTACGAGGAGATATCGGGGTCCCGGCCCGGGGACGCGAGGC
CCGCGGGCGCCCCGGGGGCAGCAGCGCGCGTTCTGACCCCCGGGACTCCGCAGTGCGCGCTGCCCCCGGCGGCGCCTCCGGGTGACGAGG
ACGACAGCGAGCCTGTGTACATCGAGATGCTGGGGCACGCGGCCAGGCCCGATAGCCCGGACCCCGGGGAGTCCGTGTACGAGGAGATGA
AGTGTTGCCTGCCCGACGACGGCGGCCCGGGCGCGGGCTCCTTCCTGCTCCACGGCGCATCGCCGCCCCTGCTCCACCGCGCGCCGGAGG
ACGAGGCGGCGGGGCCCCCAGGGGACGCGTGCGACATCCCGCCGCCCTTCCCCAACCTGCTGCCGCACCGGCCGCCCCTGCTGGTGTTCC
CCCCGACCCCCGTCACCTGCTCCCCCGCCTCCGACGAGTCGCCCCTGACACCCCTGGAGGTGAAGAAGCTGCCAGTCCTGGAGACCAACC
TCAAGTACCCCGTGCAGCCGGAGGGGTCGAGCCCGCTGTCCCCGCAGTACTCCAAGAGCCAGAAGGGCGACGGCGACAGGCCCGCGTCCC
CCGGCCTGGCGCTGTTCAACGGGTCCGGCCGAGCCTCCCCGCCGTCCACGCCGCCCCCGCCCCCGCCCCCGCCCGGGCCGCCCCCCGCGC
CCTACAGGCCCTGCGCGCACTTGGCCTTCCCGCCGGAGCCCGCCCCGGTGAACGCGGGGAAAGCGGGGCCGAGCGCAGAGGCGCCCAAGG
TTCACCCAAAGCCAAACTCTGCCCCCGTGGCCGGGCCCTGCAGCTCCTTCCCCAAGATCCCATATTCCCCCGTGAAGGCCACCAGGGCGG
ACGCCAGGAAGGCCGGCTCCAGTGCCTCGCCCCCCGCGCCCTACAGCCCTCCCAGCTCCAGGCCTCTCAGCAGCCCCCTGGACGAGCTCG
CCAGCCTCTTCAACTCGGGGAGGAGTGTGCTTCGGAAATCCGCGGCGGGAAGAAAAATCAGGGAAGCAGAAGGTTTTGAAACTAACATGA
ACATAAGTAGCCGAGATGACCCTAGTACGTCAGAAATTACTTCCGAGACTCAAGACAGAAATGCAAATAACCATGGAATTCAGTTATCTA
ATTCACTATCTAGTGCTATAACTGCTGAAAATGGAAATTCCATCTCAAATGGTTTACCTGAAGAAGATGGATACTCACGGTTGTCTATAA
GTGGCACAGGGACTTCGACATTTCAAAGACACAGGGACAGTCACACCACTCAGGTAATCCATCAGCTGAGGCTCTCAGAGAATGAAAGTG
TGGCCCTGCAGGAACTCTTGGACTGGAGGAGAAAGCTCTGTGAGGAAGGACAAGACTGGCAGCAGATCCTGCACCACGCTGAGCCCAGGG
TGCCTCCCCCACCACCTTGCAAGAAGCCCAGCCTTCTGAAGAAGCCGGAAGGGGCCTCCTGCAACAGGCTGCCGTCTGAGCTCTGGGACA
CCACCATTTGATGTGGCCTGAACTGCAGACTTACAAAATAGAACTGCCTACTGATTCCGGGCTGCAACAACAGAAGGCTGCCTTCTGACA
TGCGCTGGGGCTTCTCTCCACGCATTTAGACAAAAAAAGCACAGGACACAGACACTAAATATATGAGATCCCGTGTGTGTGTGTGTGTGT
TTGTGTGTGTGTGTGTGGGTTCTTTCTTATCCATCTCGTGGTGATACACTCTGATTTTCAAGCTCCTCATTTACGGCTCTGTGCTACCCC
TAGGTAGCAAGAGAGAGGCTGGGAAAAGTGTGGACGTGGCCAGAGCGAGAGAGTAGCGGAGGAAAGGAGCAATCCATGCACACTCTGTAC
AGTTGTTTTTCTACGGTTCAACAGTCTGTTTATTGTACTTCCAATGGTTTTATTATAATACAGTATACGGGACATATATTTTATTTCTTT
GTAGCTACTTGTGTTTTATTGGTATTATAAACCTGATAATTATTTACATGTTTATTACTGTAATTTTATAAATTTATGCAATTGGTGGTG
CTTCCTTTCTTCAAAATACAGATTTTAAAAAATCATTTCTAGATTATTTTTTTCCTCCACAGTCCTTTTTTTTCACCTAACGCACCTAAA
TCTTGAAACTACATTGTTGTTTTAGCTTCGCCAGTGTCACCCCTTGCAAAACTATGAATTGAGCCCCATGTTTTAGGTGTTACTCATGGA
TGAGGAGGCTGTTCTTTCCTATGCCCTGTATTTCTGGATAAGTGGATTGTGTACCCTTTAGTTAAATTTCACCTCCCGACTTCAGCATAG
ATCACAGGAAATCACATGGCACACGGTTAAACACGTATGGCTTCAAATCCATAGCCGGTGGTGTAAAATGATCATATTCATTCAAAGGCC
TACACAGTACAAATGAGCACGCTGCCATGTACTGGTTTGAGCAGTAGGGGCTGCATCGCACAGCGCTCGTCCCCCGGGACTTACACTGCA
TGATTCCCTCACTGTATATCCTCAACCCTCCCATAATGCAAGGCCTTGTTCATTGATGTGCTTTCGTCGGCTGTCGGAAAGTTCTGAGCA

>13050_13050_3_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000357550_length(amino acids)=1257AA_BP=18
MLPDGPGSSLWGNPGLQTRYLNQTIQDDASTGERSLNREKLAVLKRALNVVGFSSLEVENLFVILAAILHLGDIRFTALNEGNSAFVSDL
QLLEQVAGMLQVSTDELASALTTDIQYFKGDMIIRRHTIQIAEFFRDLLAKSLYSRLFSFLVNTMNSCLHSQDEQKSMQTLDIGILDIFG
FEEFQKNEFEQLCVNMTNEKMHHYINEVLFLHEQVECVQEGVTMETAYSPGNQNGVLDFFFQKPSGFLTLLDEESQMIWSVESNFPKKLQ
SLLESSNTNAVYSPMKDGNGNVALKDHGTAFTIMHYAGRVMYDVVGAIEKNKDSLSQNLLFVMKTSENVVINHLFQSKLSQTGSLVSAYP
SFKFRGHKSALLSKKMTASSIIGENKNYLELSKLLKKKGTSTFLQRLERGDPVTIASQLRKSLMDIIGKLQKCTPHFIHCIRPNNSKLPD
TFDNFYVSAQLQYIGVLEMVKIFRYGYPVRLSFSDFLSRYKPLADTFLREKKEQSAAERCRLVLQQCKLQGWQMGVRKVFLKYWHADQLN
DLCLQLQRKIITCQKVIRGFLARQHLLQRISIRQQEVTSINSFLQNTEDMGLKTYDALVIQNASDIARENDRLRSEMNAPYHKEKLEVRN
MQEEGSKRTDDKSGPRHFHPSSMSVCAAVDGLGQCLVGPSIWSPSLHSVFSMDDSSSLPSPRKQPPPKPKRDPNTRLSASYEAVSACLSA
AREAANEALARPRPHSDDYSTMKKIPPRKPKRSPNTKLSGSYEEISGSRPGDARPAGAPGAAARVLTPGTPQCALPPAAPPGDEDDSEPV
YIEMLGHAARPDSPDPGESVYEEMKCCLPDDGGPGAGSFLLHGASPPLLHRAPEDEAAGPPGDACDIPPPFPNLLPHRPPLLVFPPTPVT
CSPASDESPLTPLEVKKLPVLETNLKYPVQPEGSSPLSPQYSKSQKGDGDRPASPGLALFNGSGRASPPSTPPPPPPPPGPPPAPYRPCA
HLAFPPEPAPVNAGKAGPSAEAPKVHPKPNSAPVAGPCSSFPKIPYSPVKATRADARKAGSSASPPAPYSPPSSRPLSSPLDELASLFNS
GRSVLRKSAAGRKIREAEGFETNMNISSRDDPSTSEITSETQDRNANNHGIQLSNSLSSAITAENGNSISNGLPEEDGYSRLSISGTGTS

--------------------------------------------------------------
>13050_13050_4_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000457511_length(transcript)=2340nt_BP=73nt
GCAGCTGGGAATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGTATTTGAACCAGACCA
TACAGGATGATGCATCCACAGGGGAGCGTTCTCTGAACAGGGAGAAATTGGCTGTTTTGAAACGAGCCCTGAATGTAGTTGGCTTCAGCA
GCTTGGAGGTGGAGAATCTGTTCGTAATTCTAGCAGCAATATTGCACCTTGGAGACATTCGGTTTACTGCCCTGAATGAGGGGAACTCCG
CCTTCGTTTCTGACCTCCAGCTCCTGGAACAAGTGGCTGGAATGTTACAAGTATCAACAGATGAATTGGCATCTGCCTTAACAACTGATA
TTCAATATTTTAAAGGGGATATGATAATACGACGACATACCATACAGATTGCTGAGTTTTTCCGAGACCTCTTGGCCAAGTCCCTGTACA
GTCGTTTGTTTAGCTTTTTGGTGAATACCATGAATTCTTGCCTCCACAGTCAAGATGAACAGAAAAGCATGCAGACATTGGATATTGGAA
TATTGGACATTTTTGGTTTTGAAGAGTTTCAAAAGAATGAATTTGAACAACTTTGTGTCAACATGACCAATGAGAAGATGCACCACTATA
TCAATGAAGTGCTTTTTCTCCACGAGCAAGTGGAATGTGTACAAGAGGGAGTTACCATGGAAACAGCATATTCTCCTGGTAACCAGAATG
GAGTTTTGGACTTTTTTTTCCAGAAGCCATCTGGATTTCTCACCTTATTGGATGAAGAAAGTCAAATGATTTGGTCAGTGGAATCAAATT
TTCCAAAAAAACTACAAAGTCTCCTAGAATCCTCAAACACAAATGCGGTGTACTCCCCCATGAAGGATGGGAATGGGAATGTTGCCCTCA
AAGACCACGGTACAGCCTTCACCATCATGCACTACGCAGGAAGGGTAATGTATGATGTTGTTGGGGCGATTGAAAAAAATAAAGACTCCC
TTTCACAGAATCTTCTATTTGTAATGAAAACTAGTGAAAATGTCGTGATCAATCATTTGTTCCAGTCGAAATTGTCACAAACAGGATCCC
TCGTATCTGCCTATCCTTCCTTTAAATTCCGAGGACATAAGTCTGCCCTGCTCAGTAAGAAAATGACAGCTTCTTCAATTATTGGAGAAA
ACAAGAATTATCTAGAACTTAGTAAGTTATTAAAAAAGAAAGGAACTTCTACATTTCTTCAAAGATTGGAACGAGGAGATCCAGTCACCA
TAGCATCACAACTCAGGAAATCACTAATGGATATTATTGGAAAACTTCAGAAGTGCACTCCACACTTCATTCATTGCATCAGGCCCAATA
ACTCAAAGCTGCCAGATACTTTTGATAATTTTTACGTGTCTGCTCAGCTACAATATATTGGGGTCCTGGAGATGGTGAAGATCTTCCGAT
ATGGATACCCTGTTCGCCTTTCCTTCTCGGATTTCCTGTCAAGGTATAAGCCACTGGCTGATACATTCCTGCGTGAGAAGAAGGAACAGT
CAGCTGCCGAGCGATGTCGACTTGTTCTCCAGCAGTGTAAATTACAAGGCTGGCAGATGGGAGTCCGAAAAGTGTTTCTAAAATACTGGC
ATGCTGACCAACTCAATGATTTGTGCCTACAGTTGCAGAGAAAAATTATAACCTGCCAAAAAGTTATCAGAGGATTTTTAGCACGCCAGC
ACCTGCTTCAGAGAATAAGCATCAGACAACAAGAGGTGACTTCTATCAATAGCTTTCTGCAGAACACAGAGGACATGGGGCTGAAAACCT
ACGATGCCCTGGTCATTCAGAATGCTTCAGACATTGCCCGGGAAAATGACCGGCTCCGTAGTGAAATGAACGCTCCCTACCATAAAGAGA
AGTTAGAGGTCAGGAACATGCAAGAGGAAGGAAGCAAAAGAACCGATGACAAGAGTGGACCCAGGCATTTCCACCCCAGCTCCATGTCAG
TCTGCGCGGCCGTGGATGGCCTGGGCCAGTGCCTCGTTGGCCCGTCCATCTGGTCTCCTTCGCTGCACTCGGTGTTCAGCATGGATGACA
GCAGCAGCCTCCCGTCTCCACGGAAACAGCCCCCGCCCAAGCCAAAGAGGGACCCCAACACCCGGCTGAGTGCTTCCTATGAGGCTGTGA
GCGCCTGCCTCTCCGCGGCCAGGGAAGCGGCCAACGAAGGTCAGCCCTGGGGAGGGACCCAGCCTCGTGTTCCGGGCTCGCGCATGCTCT
GACTTCGCCTTGGGGCGCCCATGGCAGTACTGTCGCCCTAATGTATTCTTAATAGAAATAAATCCAATTGTTGGCTTGCCAGCAGCTCTT

>13050_13050_4_CARKD-MYO16_CARKD_chr13_111267994_ENST00000424185_MYO16_chr13_109610036_ENST00000457511_length(amino acids)=744AA_BP=18
MLPDGPGSSLWGNPGLQTRYLNQTIQDDASTGERSLNREKLAVLKRALNVVGFSSLEVENLFVILAAILHLGDIRFTALNEGNSAFVSDL
QLLEQVAGMLQVSTDELASALTTDIQYFKGDMIIRRHTIQIAEFFRDLLAKSLYSRLFSFLVNTMNSCLHSQDEQKSMQTLDIGILDIFG
FEEFQKNEFEQLCVNMTNEKMHHYINEVLFLHEQVECVQEGVTMETAYSPGNQNGVLDFFFQKPSGFLTLLDEESQMIWSVESNFPKKLQ
SLLESSNTNAVYSPMKDGNGNVALKDHGTAFTIMHYAGRVMYDVVGAIEKNKDSLSQNLLFVMKTSENVVINHLFQSKLSQTGSLVSAYP
SFKFRGHKSALLSKKMTASSIIGENKNYLELSKLLKKKGTSTFLQRLERGDPVTIASQLRKSLMDIIGKLQKCTPHFIHCIRPNNSKLPD
TFDNFYVSAQLQYIGVLEMVKIFRYGYPVRLSFSDFLSRYKPLADTFLREKKEQSAAERCRLVLQQCKLQGWQMGVRKVFLKYWHADQLN
DLCLQLQRKIITCQKVIRGFLARQHLLQRISIRQQEVTSINSFLQNTEDMGLKTYDALVIQNASDIARENDRLRSEMNAPYHKEKLEVRN
MQEEGSKRTDDKSGPRHFHPSSMSVCAAVDGLGQCLVGPSIWSPSLHSVFSMDDSSSLPSPRKQPPPKPKRDPNTRLSASYEAVSACLSA

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

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Fusion Gene PPI Analysis for CARKD-MYO16


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 CARKD-MYO16


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 CARKD-MYO16


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0036341Schizophrenia1PSYGENET