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![]() | 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:CDKAL1-GMDS (FusionGDB2 ID:HG54901TG2762) |
Fusion Gene Summary for CDKAL1-GMDS |
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Fusion gene information | Fusion gene name: CDKAL1-GMDS | Fusion gene ID: hg54901tg2762 | Hgene | Tgene | Gene symbol | CDKAL1 | GMDS | Gene ID | 54901 | 2762 |
Gene name | CDK5 regulatory subunit associated protein 1 like 1 | GDP-mannose 4,6-dehydratase | |
Synonyms | - | GMD|SDR3E1 | |
Cytomap | ('CDKAL1')('GMDS') 6p22.3 | 6p25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | threonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferase | GDP-mannose 4,6 dehydrataseGDP-D-mannose dehydrataseshort chain dehydrogenase/reductase family 3E, member 1 | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | Q5VV42 | O60547 | |
Ensembl transtripts involved in fusion gene | ENST00000274695, ENST00000378610, ENST00000378624, ENST00000476517, | ||
Fusion gene scores | * DoF score | 37 X 20 X 14=10360 | 14 X 10 X 8=1120 |
# samples | 39 | 15 | |
** MAII score | log2(39/10360*10)=-4.73140606882431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(15/1120*10)=-2.90046432644909 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CDKAL1 [Title/Abstract] AND GMDS [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CDKAL1(20548936)-GMDS(1961200), # samples:1 CDKAL1(21065459)-GMDS(1961200), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CDKAL1-GMDS 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. CDKAL1-GMDS 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. CDKAL1-GMDS 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. CDKAL1-GMDS 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. CDKAL1-GMDS seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CDKAL1-GMDS 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | GMDS | GO:0019673 | GDP-mannose metabolic process | 9525924 |
Tgene | GMDS | GO:0042351 | 'de novo' GDP-L-fucose biosynthetic process | 9525924 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | OV | TCGA-04-1331 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
ChimerDB4 | STAD | TCGA-HU-A4GN | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
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Fusion Gene ORF analysis for CDKAL1-GMDS |
![]() * 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 |
5CDS-intron | ENST00000274695 | ENST00000467288 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
5CDS-intron | ENST00000274695 | ENST00000467288 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
5CDS-intron | ENST00000378610 | ENST00000467288 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
5CDS-intron | ENST00000378610 | ENST00000467288 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
5CDS-intron | ENST00000378624 | ENST00000467288 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
Frame-shift | ENST00000274695 | ENST00000380815 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
Frame-shift | ENST00000274695 | ENST00000530927 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
Frame-shift | ENST00000378610 | ENST00000380815 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
Frame-shift | ENST00000378610 | ENST00000530927 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
In-frame | ENST00000274695 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
In-frame | ENST00000274695 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
In-frame | ENST00000378610 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
In-frame | ENST00000378610 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
In-frame | ENST00000378624 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
In-frame | ENST00000378624 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
intron-3CDS | ENST00000378624 | ENST00000380815 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
intron-3CDS | ENST00000378624 | ENST00000530927 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
intron-3CDS | ENST00000476517 | ENST00000380815 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
intron-3CDS | ENST00000476517 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
intron-3CDS | ENST00000476517 | ENST00000530927 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
intron-3CDS | ENST00000476517 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
intron-intron | ENST00000378624 | ENST00000467288 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
intron-intron | ENST00000476517 | ENST00000467288 | CDKAL1 | chr6 | 20548936 | + | GMDS | chr6 | 1961200 | - |
intron-intron | ENST00000476517 | ENST00000467288 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - |
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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) |
ENST00000274695 | CDKAL1 | chr6 | 21065459 | + | ENST00000530927 | GMDS | chr6 | 1961200 | - | 2540 | 1403 | 167 | 2176 | 669 |
ENST00000274695 | CDKAL1 | chr6 | 21065459 | + | ENST00000380815 | GMDS | chr6 | 1961200 | - | 2540 | 1403 | 167 | 2176 | 669 |
ENST00000378624 | CDKAL1 | chr6 | 21065459 | + | ENST00000530927 | GMDS | chr6 | 1961200 | - | 2427 | 1290 | 264 | 2063 | 599 |
ENST00000378624 | CDKAL1 | chr6 | 21065459 | + | ENST00000380815 | GMDS | chr6 | 1961200 | - | 2427 | 1290 | 264 | 2063 | 599 |
ENST00000378610 | CDKAL1 | chr6 | 21065459 | + | ENST00000530927 | GMDS | chr6 | 1961200 | - | 2383 | 1246 | 10 | 2019 | 669 |
ENST00000378610 | CDKAL1 | chr6 | 21065459 | + | ENST00000380815 | GMDS | chr6 | 1961200 | - | 2383 | 1246 | 10 | 2019 | 669 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000274695 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - | 0.000811989 | 0.999188 |
ENST00000274695 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - | 0.000811989 | 0.999188 |
ENST00000378624 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - | 0.000922378 | 0.99907756 |
ENST00000378624 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - | 0.000922378 | 0.99907756 |
ENST00000378610 | ENST00000530927 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - | 0.001039662 | 0.9989604 |
ENST00000378610 | ENST00000380815 | CDKAL1 | chr6 | 21065459 | + | GMDS | chr6 | 1961200 | - | 0.001039662 | 0.9989604 |
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Fusion Genomic Features for CDKAL1-GMDS |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CDKAL1-GMDS |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:20548936/chr6:1961200) - 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. |
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Hgene | Tgene |
CDKAL1 | GMDS |
FUNCTION: Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. {ECO:0000250|UniProtKB:Q91WE6}. | FUNCTION: Catalyzes the conversion of GDP-D-mannose to GDP-4-dehydro-6-deoxy-D-mannose. {ECO:0000269|PubMed:9525924}. |
![]() * 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 |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000274695 | + | 12 | 16 | 64_172 | 412 | 580.0 | Domain | MTTase N-terminal |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378610 | + | 10 | 14 | 64_172 | 412 | 580.0 | Domain | MTTase N-terminal |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378624 | + | 11 | 14 | 64_172 | 342 | 489.0 | Domain | MTTase N-terminal |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000530927 | 3 | 11 | 108_112 | 85 | 343.0 | Nucleotide binding | NADP | |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000530927 | 3 | 11 | 86_87 | 85 | 343.0 | Nucleotide binding | NADP |
- 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 |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000274695 | + | 12 | 16 | 200_431 | 412 | 580.0 | Domain | Radical SAM core |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000274695 | + | 12 | 16 | 431_493 | 412 | 580.0 | Domain | TRAM |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378610 | + | 10 | 14 | 200_431 | 412 | 580.0 | Domain | Radical SAM core |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378610 | + | 10 | 14 | 431_493 | 412 | 580.0 | Domain | TRAM |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378624 | + | 11 | 14 | 200_431 | 342 | 489.0 | Domain | Radical SAM core |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378624 | + | 11 | 14 | 431_493 | 342 | 489.0 | Domain | TRAM |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000274695 | + | 12 | 16 | 556_578 | 412 | 580.0 | Transmembrane | Helical |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378610 | + | 10 | 14 | 556_578 | 412 | 580.0 | Transmembrane | Helical |
Hgene | CDKAL1 | chr6:21065459 | chr6:1961200 | ENST00000378624 | + | 11 | 14 | 556_578 | 342 | 489.0 | Transmembrane | Helical |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000380815 | 3 | 11 | 108_112 | 115 | 373.0 | Nucleotide binding | NADP | |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000380815 | 3 | 11 | 30_35 | 115 | 373.0 | Nucleotide binding | NADP | |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000380815 | 3 | 11 | 55_58 | 115 | 373.0 | Nucleotide binding | NADP | |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000380815 | 3 | 11 | 86_87 | 115 | 373.0 | Nucleotide binding | NADP | |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000530927 | 3 | 11 | 30_35 | 85 | 343.0 | Nucleotide binding | NADP | |
Tgene | GMDS | chr6:21065459 | chr6:1961200 | ENST00000530927 | 3 | 11 | 55_58 | 85 | 343.0 | Nucleotide binding | NADP |
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Fusion Gene Sequence for CDKAL1-GMDS |
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>15332_15332_1_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000274695_GMDS_chr6_1961200_ENST00000380815_length(transcript)=2540nt_BP=1403nt AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTT GGACTGGTTTTTACTTCCCGACTTCTGGACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAGAGAATATGCCTTCTGCAT CCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTG TCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGCACTATTCCAGGCATACAGA AAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCTAGCTGCTTATGGCTATAAAATTA CAGAAAATGCATCCGATGCAGATTTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAAAA AAGCTCAAGAGGAGAACAAGAAAATCGTACTGGCTGGATGCGTTCCTCAAGCCCAGCCTCGCCAGGACTACCTTAAGGGACTGAGTATCA TTGGGGTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCTGTGAGACTGCTGGGTCAGAAAAAGGATA ATGGAAGGCGGCTTGGGGGAGCACGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAATCATTTCCATCAATACCGGGTGTC TCAATGCTTGTACCTACTGCAAAACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGAACTAGTAGATAGAGCCAAACAAT CTTTTCAAGAGGGTGTTTGTGAGATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATATTGGCACCAATCTCCCCACACTCC TGTGGAAACTGGTTGAAGTGATTCCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTATATTTTAGAGCATCTGGAGGAAA TGGCAAAAATCCTTAATCACCCCAGAGTCTACGCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGACAGCGTACTCATGGAAATGAAAA GAGAATACTGTGTGGCTGACTTCAAAAGAGTAGTGGATTTTCTGAAAGAGAAAGTTCCTGGAATAACTATTGCTACAGATATTATCTGTG GTTTTCCTGGAGAAACAGATCAGGATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAATTCCCAAGCCTGTTTATTAACCAATTTT ACCCAAGACCAGGAACTCCTGCTGCAAAAATGGAACAAGTTCCAGCACAAGTGATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTG ACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAAC TTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATT GGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAGAGTCCCAGAAGAGGAGCTAATT TCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCCAAACGAG ATTGGGGCCATGCCAAGGACTATGTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGG TCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCA GATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCA AAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGA CAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGG ATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAG GTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATG TTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGTTTTTCTCTTTTCATATTAAAAAT >15332_15332_1_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000274695_GMDS_chr6_1961200_ENST00000380815_length(amino acids)=669AA_BP=412 MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTN LPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIAT DIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQA STSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNL DAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQ -------------------------------------------------------------- >15332_15332_2_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000274695_GMDS_chr6_1961200_ENST00000530927_length(transcript)=2540nt_BP=1403nt AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTT GGACTGGTTTTTACTTCCCGACTTCTGGACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAGAGAATATGCCTTCTGCAT CCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTG TCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGCACTATTCCAGGCATACAGA AAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCTAGCTGCTTATGGCTATAAAATTA CAGAAAATGCATCCGATGCAGATTTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAAAA AAGCTCAAGAGGAGAACAAGAAAATCGTACTGGCTGGATGCGTTCCTCAAGCCCAGCCTCGCCAGGACTACCTTAAGGGACTGAGTATCA TTGGGGTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCTGTGAGACTGCTGGGTCAGAAAAAGGATA ATGGAAGGCGGCTTGGGGGAGCACGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAATCATTTCCATCAATACCGGGTGTC TCAATGCTTGTACCTACTGCAAAACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGAACTAGTAGATAGAGCCAAACAAT CTTTTCAAGAGGGTGTTTGTGAGATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATATTGGCACCAATCTCCCCACACTCC TGTGGAAACTGGTTGAAGTGATTCCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTATATTTTAGAGCATCTGGAGGAAA TGGCAAAAATCCTTAATCACCCCAGAGTCTACGCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGACAGCGTACTCATGGAAATGAAAA GAGAATACTGTGTGGCTGACTTCAAAAGAGTAGTGGATTTTCTGAAAGAGAAAGTTCCTGGAATAACTATTGCTACAGATATTATCTGTG GTTTTCCTGGAGAAACAGATCAGGATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAATTCCCAAGCCTGTTTATTAACCAATTTT ACCCAAGACCAGGAACTCCTGCTGCAAAAATGGAACAAGTTCCAGCACAAGTGATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTG ACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAAC TTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATT GGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAGAGTCCCAGAAGAGGAGCTAATT TCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCCAAACGAG ATTGGGGCCATGCCAAGGACTATGTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGG TCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCA GATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCA AAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGA CAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGG ATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAG GTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATG TTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGTTTTTCTCTTTTCATATTAAAAAT >15332_15332_2_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000274695_GMDS_chr6_1961200_ENST00000530927_length(amino acids)=669AA_BP=412 MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTN LPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIAT DIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQA STSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNL DAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQ -------------------------------------------------------------- >15332_15332_3_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378610_GMDS_chr6_1961200_ENST00000380815_length(transcript)=2383nt_BP=1246nt GGTAGAGAATATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAG GCATTTTGTAAGAAAGGATGTTGTCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGA CAGCACTATTCCAGGCATACAGAAAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCT AGCTGCTTATGGCTATAAAATTACAGAAAATGCATCCGATGCAGATTTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGA CCACTTTAGAAACTCAATTAAAAAAGCTCAAGAGGAGAACAAGAAAATCGTACTGGCTGGATGCGTTCCTCAAGCCCAGCCTCGCCAGGA CTACCTTAAGGGACTGAGTATCATTGGGGTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCTGTGAG ACTGCTGGGTCAGAAAAAGGATAATGGAAGGCGGCTTGGGGGAGCACGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAAT CATTTCCATCAATACCGGGTGTCTCAATGCTTGTACCTACTGCAAAACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGA ACTAGTAGATAGAGCCAAACAATCTTTTCAAGAGGGTGTTTGTGAGATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATAT TGGCACCAATCTCCCCACACTCCTGTGGAAACTGGTTGAAGTGATTCCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTA TATTTTAGAGCATCTGGAGGAAATGGCAAAAATCCTTAATCACCCCAGAGTCTACGCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGA CAGCGTACTCATGGAAATGAAAAGAGAATACTGTGTGGCTGACTTCAAAAGAGTAGTGGATTTTCTGAAAGAGAAAGTTCCTGGAATAAC TATTGCTACAGATATTATCTGTGGTTTTCCTGGAGAAACAGATCAGGATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAATTCCC AAGCCTGTTTATTAACCAATTTTACCCAAGACCAGGAACTCCTGCTGCAAAAATGGAACAAGTTCCAGCACAAGTGATTTCCTTTGACCT CGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTT CTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGG GGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGA GAGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTT GGGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGACTATGTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGA CTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGG AAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGA CTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCA CGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTC TCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGC AAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTG AATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGT >15332_15332_3_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378610_GMDS_chr6_1961200_ENST00000380815_length(amino acids)=669AA_BP=412 MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTN LPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIAT DIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQA STSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNL DAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQ -------------------------------------------------------------- >15332_15332_4_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378610_GMDS_chr6_1961200_ENST00000530927_length(transcript)=2383nt_BP=1246nt GGTAGAGAATATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAG GCATTTTGTAAGAAAGGATGTTGTCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGA CAGCACTATTCCAGGCATACAGAAAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCT AGCTGCTTATGGCTATAAAATTACAGAAAATGCATCCGATGCAGATTTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGA CCACTTTAGAAACTCAATTAAAAAAGCTCAAGAGGAGAACAAGAAAATCGTACTGGCTGGATGCGTTCCTCAAGCCCAGCCTCGCCAGGA CTACCTTAAGGGACTGAGTATCATTGGGGTTCAGCAGATAGATCGTGTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCTGTGAG ACTGCTGGGTCAGAAAAAGGATAATGGAAGGCGGCTTGGGGGAGCACGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAAT CATTTCCATCAATACCGGGTGTCTCAATGCTTGTACCTACTGCAAAACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGA ACTAGTAGATAGAGCCAAACAATCTTTTCAAGAGGGTGTTTGTGAGATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATAT TGGCACCAATCTCCCCACACTCCTGTGGAAACTGGTTGAAGTGATTCCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTA TATTTTAGAGCATCTGGAGGAAATGGCAAAAATCCTTAATCACCCCAGAGTCTACGCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGA CAGCGTACTCATGGAAATGAAAAGAGAATACTGTGTGGCTGACTTCAAAAGAGTAGTGGATTTTCTGAAAGAGAAAGTTCCTGGAATAAC TATTGCTACAGATATTATCTGTGGTTTTCCTGGAGAAACAGATCAGGATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAATTCCC AAGCCTGTTTATTAACCAATTTTACCCAAGACCAGGAACTCCTGCTGCAAAAATGGAACAAGTTCCAGCACAAGTGATTTCCTTTGACCT CGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTT CTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGG GGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGA GAGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTT GGGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGACTATGTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGA CTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTCGAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGG AAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTTCACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGA CTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGGAAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCA CGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCGCCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTC TCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTGCGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGC AAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGACCCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTG AATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTTGAAATTATGTTGTTACACAACAAATTGTGGGGCCTTCAAATTGT >15332_15332_4_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378610_GMDS_chr6_1961200_ENST00000530927_length(amino acids)=669AA_BP=412 MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGVCEIWLTSEDTGAYGRDIGTN LPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVADFKRVVDFLKEKVPGITIAT DIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQA STSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNL DAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETGKVHVTVDLKYYRPTEVDFLQ -------------------------------------------------------------- >15332_15332_5_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378624_GMDS_chr6_1961200_ENST00000380815_length(transcript)=2427nt_BP=1290nt AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTT GGACTGGTTTTTACTTCCCGACTTCTGGACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAGAGAATATGCCTTCTGCAT CCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTG TCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGAAAATGCATCCGATGCAGAT TTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAAAAAAGCTCAAGAGGAGAACAAGAAA ATCGTACTGGCTGGATGCGTTCCTCAAGCCCAGCCTCGCCAGGACTACCTTAAGGGACTGAGTATCATTGGGGTTCAGCAGATAGATCGT GTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCTGTGAGACTGCTGGGTCAGAAAAAGGATAATGGAAGGCGGCTTGGGGGAGCA CGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAATCATTTCCATCAATACCGGGTGTCTCAATGCTTGTACCTACTGCAAA ACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGAACTAGTAGATAGAGCCAAACAATCTTTTCAAGAGGGTGTTTGTGAG ATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATATTGGCACCAATCTCCCCACACTCCTGTGGAAACTGGTTGAAGTGATT CCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTATATTTTAGAGCATCTGGAGGAAATGGCAAAAATCCTTAATCACCCC AGAGTCTACGCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGACAGCGTACTCATGGAAATGAAAAGAGAATACTGTGTGGCTGACTTC AAAAGAGTAGTGGATTTTCTGAAAGAGAAAGTTCCTGGAATAACTATTGCTACAGATATTATCTGTGGTTTTCCTGGAGAAACAGATCAG GATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAATTCCCAAGCCTGTTTATTAACCAATTTTACCCAAGACCAGGAACTCCTGCT GCAAAAATGGAACAAGTTCCAGCACAAGTGATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTT CTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATA CCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAG GCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAGAGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGG TCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGACTAT GTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTC GAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTT CACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGG AAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCG CCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTG CGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGAC CCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTT >15332_15332_5_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378624_GMDS_chr6_1961200_ENST00000380815_length(amino acids)=599AA_BP=342 MLSRRYEGEIPKNICKRKKTVHQVTENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQI DRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGV CEIWLTSEDTGAYGRDIGTNLPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVA DFKRVVDFLKEKVPGITIATDIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVISFDLAEYTADVDGVGTL RLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKI SRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETG -------------------------------------------------------------- >15332_15332_6_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378624_GMDS_chr6_1961200_ENST00000530927_length(transcript)=2427nt_BP=1290nt AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTT GGACTGGTTTTTACTTCCCGACTTCTGGACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAGAGAATATGCCTTCTGCAT CCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTG TCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGAAAATGCATCCGATGCAGAT TTATGGCTCCTGAACAGTTGCACTGTAAAAAACCCAGCTGAAGACCACTTTAGAAACTCAATTAAAAAAGCTCAAGAGGAGAACAAGAAA ATCGTACTGGCTGGATGCGTTCCTCAAGCCCAGCCTCGCCAGGACTACCTTAAGGGACTGAGTATCATTGGGGTTCAGCAGATAGATCGT GTGGTAGAAGTTGTGGAGGAGACAATTAAAGGTCACTCTGTGAGACTGCTGGGTCAGAAAAAGGATAATGGAAGGCGGCTTGGGGGAGCA CGATTGGATTTGCCGAAGATTAGGAAGAATCCACTGATAGAAATCATTTCCATCAATACCGGGTGTCTCAATGCTTGTACCTACTGCAAA ACTAAACACGCCAGAGGAAATTTGGCCAGTTATCCAATTGATGAACTAGTAGATAGAGCCAAACAATCTTTTCAAGAGGGTGTTTGTGAG ATATGGTTGACCAGTGAAGACACGGGGGCTTATGGCAGAGATATTGGCACCAATCTCCCCACACTCCTGTGGAAACTGGTTGAAGTGATT CCTGAGGGAGCAATGCTGAGGCTTGGCATGACAAATCCGCCCTATATTTTAGAGCATCTGGAGGAAATGGCAAAAATCCTTAATCACCCC AGAGTCTACGCTTTTCTGCACATACCAGTCCAGTCTGCCTCCGACAGCGTACTCATGGAAATGAAAAGAGAATACTGTGTGGCTGACTTC AAAAGAGTAGTGGATTTTCTGAAAGAGAAAGTTCCTGGAATAACTATTGCTACAGATATTATCTGTGGTTTTCCTGGAGAAACAGATCAG GATTTTCAAGAAACAGTGAAACTTGTTGAAGAGTACAAATTCCCAAGCCTGTTTATTAACCAATTTTACCCAAGACCAGGAACTCCTGCT GCAAAAATGGAACAAGTTCCAGCACAAGTGATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTT CTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATA CCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAG GCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAGAGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGG TCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGACTAT GTGGAGGCTATGTGGTTGATGTTGCAGAATGATGAGCCGGAGGACTTCGTTATAGCTACTGGGGAGGTCCATAGTGTCCGGGAATTTGTC GAGAAATCATTCTTGCACATTGGAAAAACCATTGTGTGGGAAGGAAAGAATGAAAATGAAGTGGGCAGATGTAAAGAGACCGGCAAAGTT CACGTGACTGTGGATCTCAAGTACTACCGGCCAACTGAAGTGGACTTTCTGCAGGGCGACTGCACCAAAGCGAAACAGAAGCTGAACTGG AAGCCCCGGGTCGCTTTCGATGAGCTGGTGAGGGAGATGGTGCACGCCGACGTGGAGCTCATGAGGACAAACCCCAATGCCTGAGCAGCG CCTCGGAGCCCGGCCCGCCCTCCGGCTACAATCCCCGCAGAGTCTCCGGTGCAGACGCGCTGCGGGGATGGGGAGCGGCGTGCCAATCTG CGGGTCCCCTGCGGCCCCTGCTGCCGCTGCGCTGTCCCGGCCGCAAGAGCGGGGCCGCCCCGCCGAGGTTTGTAGCAGCCGGGATGTGAC CCTCCAGGGTTTGGGTCGCTTTGCGTTTGTCGAAGCCTCCTCTGAATGGCTTTGTGAAATCAAGATGTTTTAATCACATTCACTTTACTT >15332_15332_6_CDKAL1-GMDS_CDKAL1_chr6_21065459_ENST00000378624_GMDS_chr6_1961200_ENST00000530927_length(amino acids)=599AA_BP=342 MLSRRYEGEIPKNICKRKKTVHQVTENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQI DRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQEGV CEIWLTSEDTGAYGRDIGTNLPTLLWKLVEVIPEGAMLRLGMTNPPYILEHLEEMAKILNHPRVYAFLHIPVQSASDSVLMEMKREYCVA DFKRVVDFLKEKVPGITIATDIICGFPGETDQDFQETVKLVEEYKFPSLFINQFYPRPGTPAAKMEQVPAQVISFDLAEYTADVDGVGTL RLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHESPRRGANFVTRKI SRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEAMWLMLQNDEPEDFVIATGEVHSVREFVEKSFLHIGKTIVWEGKNENEVGRCKETG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CDKAL1-GMDS |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CDKAL1-GMDS |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CDKAL1-GMDS |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CDKAL1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 3 | CTD_human |
Hgene | CDKAL1 | C0005910 | Body Weight | 2 | CTD_human |
Hgene | CDKAL1 | C0005612 | Birth Weight | 1 | CTD_human |
Hgene | CDKAL1 | C0263859 | Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome | 1 | CTD_human |