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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:EIF2D-CHMP1A (FusionGDB2 ID:HG1939TG5119)

Fusion Gene Summary for EIF2D-CHMP1A

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2D-CHMP1A
Fusion gene ID: hg1939tg5119
HgeneTgene
Gene symbol

EIF2D

CHMP1A

Gene ID

1939

5119

Gene nameeukaryotic translation initiation factor 2Dcharged multivesicular body protein 1A
SynonymsHCA56|LGTNCHMP1|PCH8|PCOLN3|PRSM1|VPS46-1|VPS46A
Cytomap('EIF2D')('CHMP1A')

1q32.1

16q24.3

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2Dhepatocellular carcinoma-associated antigen 56ligatincharged multivesicular body protein 1acharged multivesicular body protein 1/chromatin modifying protein 1chromatin modifying protein 1Aprocollagen (type III) N-endopeptidaseprotease, metallo, 1, 33kDvacuolar protein sorting-associated protein 46-1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000271764, ENST00000367114, 
ENST00000472709, 
Fusion gene scores* DoF score4 X 4 X 3=4845 X 11 X 21=10395
# samples 448
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(48/10395*10)=-4.43671154213721
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EIF2D [Title/Abstract] AND CHMP1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF2D(206769067)-CHMP1A(89713739), # samples:1
Anticipated loss of major functional domain due to fusion event.EIF2D-CHMP1A 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.
EIF2D-CHMP1A 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.
EIF2D-CHMP1A 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.
EIF2D-CHMP1A 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.
* 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
HgeneEIF2D

GO:0001731

formation of translation preinitiation complex

20713520

HgeneEIF2D

GO:0032790

ribosome disassembly

20713520

HgeneEIF2D

GO:0075522

IRES-dependent viral translational initiation

20713520

TgeneCHMP1A

GO:0007076

mitotic chromosome condensation

11559747

TgeneCHMP1A

GO:0016192

vesicle-mediated transport

11559748

TgeneCHMP1A

GO:0016458

gene silencing

11559747

TgeneCHMP1A

GO:0045892

negative regulation of transcription, DNA-templated

11559747


check buttonFusion gene breakpoints across EIF2D (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 CHMP1A (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
ChimerDB4GBMTCGA-27-2519-01AEIF2Dchr1

206769067

-CHMP1Achr16

89713739

-


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Fusion Gene ORF analysis for EIF2D-CHMP1A

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000271764ENST00000547614EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
5CDS-5UTRENST00000367114ENST00000547614EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
5UTR-3CDSENST00000472709ENST00000253475EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
5UTR-3CDSENST00000472709ENST00000397901EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
5UTR-3CDSENST00000472709ENST00000535997EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
5UTR-3CDSENST00000472709ENST00000550102EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
5UTR-5UTRENST00000472709ENST00000547614EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
Frame-shiftENST00000271764ENST00000253475EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
Frame-shiftENST00000367114ENST00000253475EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
In-frameENST00000271764ENST00000397901EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
In-frameENST00000271764ENST00000535997EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
In-frameENST00000271764ENST00000550102EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
In-frameENST00000367114ENST00000397901EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
In-frameENST00000367114ENST00000535997EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-
In-frameENST00000367114ENST00000550102EIF2Dchr1

206769067

-CHMP1Achr16

89713739

-

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)
ENST00000367114EIF2Dchr1206769067-ENST00000397901CHMP1Achr1689713739-32281254211592523
ENST00000367114EIF2Dchr1206769067-ENST00000535997CHMP1Achr1689713739-31961254211592523
ENST00000367114EIF2Dchr1206769067-ENST00000550102CHMP1Achr1689713739-17701254211592523
ENST00000271764EIF2Dchr1206769067-ENST00000397901CHMP1Achr1689713739-36921718172056679
ENST00000271764EIF2Dchr1206769067-ENST00000535997CHMP1Achr1689713739-36601718172056679
ENST00000271764EIF2Dchr1206769067-ENST00000550102CHMP1Achr1689713739-22341718172056679

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
ENST00000367114ENST00000397901EIF2Dchr1206769067-CHMP1Achr1689713739-0.0032290880.9967709
ENST00000367114ENST00000535997EIF2Dchr1206769067-CHMP1Achr1689713739-0.0033652080.9966348
ENST00000367114ENST00000550102EIF2Dchr1206769067-CHMP1Achr1689713739-0.005971450.99402857
ENST00000271764ENST00000397901EIF2Dchr1206769067-CHMP1Achr1689713739-0.0044390010.995561
ENST00000271764ENST00000535997EIF2Dchr1206769067-CHMP1Achr1689713739-0.0046323010.99536777
ENST00000271764ENST00000550102EIF2Dchr1206769067-CHMP1Achr1689713739-0.0075421280.99245787

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Fusion Genomic Features for EIF2D-CHMP1A


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 EIF2D-CHMP1A


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/chr1:206769067/chr16:89713739)
- 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
HgeneEIF2Dchr1:206769067chr16:89713739ENST00000271764-1315383_467503585.0DomainSWIB/MDM2
HgeneEIF2Dchr1:206769067chr16:89713739ENST00000271764-131593_173503585.0DomainPUA
HgeneEIF2Dchr1:206769067chr16:89713739ENST00000367114-111393_173379461.0DomainPUA
TgeneCHMP1Achr1:206769067chr16:89713739ENST0000039790137102_12484197.0Coiled coilOntology_term=ECO:0000255
TgeneCHMP1Achr1:206769067chr16:89713739ENST0000039790137185_19584197.0MotifNote=MIT-interacting motif

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEIF2Dchr1:206769067chr16:89713739ENST00000271764-1315491_564503585.0DomainSUI1
HgeneEIF2Dchr1:206769067chr16:89713739ENST00000367114-1113383_467379461.0DomainSWIB/MDM2
HgeneEIF2Dchr1:206769067chr16:89713739ENST00000367114-1113491_564379461.0DomainSUI1
TgeneCHMP1Achr1:206769067chr16:89713739ENST00000397901375_4784197.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for EIF2D-CHMP1A


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.
>25724_25724_1_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000271764_CHMP1A_chr16_89713739_ENST00000397901_length(transcript)=3692nt_BP=1718nt
AGTTCCAGGTACCGCCACTGGGGGCGGCCGCGGCCTCCCCAGCGGCAACGGCCACGAAGCTGCGCGGCCCTGGTTTCCAGCCGGGCCCTT
TTCGCGGCCGGGCCCCAGCATGGCTGCCCCCACGGCTGAGGGCCTGGCAGCTGCTGCGCCCTCGCTTTCTTGACATTCCCTGGCTTCTGT
GCTCTCTTCCCCAGGCCACCCCAGCAGACATGTTTGCCAAGGCCTTTCGGGTCAAGTCCAACACGGCCATCAAGGGGTCGGACAGGAGAA
AGCTTCGAGCTGATGTGACAACTGCTTTCCCCACCCTTGGAACTGATCAAGTCTCTGAGTTAGTACCTGGAAAGGAGGAGCTCAACATTG
TGAAGTTGTATGCTCACAAAGGGGATGCAGTGACTGTGTACGTGAGTGGTGGTAACCCCATCCTCTTTGAACTGGAGAAAAATCTGTATC
CAACAGTGTACACGCTGTGGTCCTATCCTGATCTTCTGCCAACCTTTACAACATGGCCTCTGGTGCTCGAGAAACTGGTAGGGGGAGCAG
ATTTGATGCTGCCTGGACTGGTGATGCCCCCTGCTGGTCTGCCTCAGGTACAGAAGGGCGACCTCTGTGCCATTTCTTTGGTGGGGAACA
GAGCCCCTGTAGCCATTGGAGTTGCAGCCATGTCCACAGCTGAGATGCTCACGTCAGGCCTGAAGGGAAGGGGCTTCTCTGTGCTCCACA
CTTACCAGGACCACTTGTGGCGGTCTGGAAACAAGTCCTCTCCACCTTCCATTGCTCCACTGGCCCTGGATTCAGCAGATCTCAGTGAAG
AGAAGGGGTCTGTCCAGATGGACTCCACCCTGCAGGGAGACATGAGGCACATGACCCTGGAGGGGGAAGAGGAGAATGGGGAGGTTCACC
AGGCACGTGAAGACAAGTCTCTCTCAGAAGCCCCAGAAGACACCAGCACCAGGGGCCTGAACCAAGACTCCACAGATAGCAAAACGCTTC
AAGAACAAATGGATGAGCTGTTACAGCAATGCTTCTTACATGCCTTGAAGTGCCGAGTCAAAAAGGCTGACCTCCCTTTACTCACCAGCA
CTTTCCTTGGCAGCCACATGTTCTCCTGCTGCCCTGAAGGACGACAACTGGACATAAAGAAGTCAAGCTACAAAAAGCTCTCTAAGTTCC
TGCAGCAAATGCAGCAGGAGCAGATTATACAGGTGAAGGAGCTGAGCAAAGGGGTGGAGAGCATTGTGGCTGTGGACTGGAAACACCCGA
GGATTACATCTTTCGTCATACCCGAGCCCTCCCCGACCTCCCAGACTATCCAGGAGGGTAGCAGGGAACAGCCCTATCACCCTCCAGATA
TAAAACCCCTCTACTGTGTCCCAGCCAGCATGACCCTGCTCTTCCAGGAGTCTGGCCACAAGAAGGGGAGCTTTCTGGAGGGCAGTGAGG
TCCGAACGATCGTCATTAACTACGCCAAGAAAAATGACCTGGTTGATGCAGACAACAAAAATCTTGTGAGATTGGATCCCATCCTATGTG
ACTGCATCTTAGAGAAAAATGAACAGCATACAGTCATGAAGCTTCCATGGGACAGTCTTCTGACCAGGTGTTTGGAAAAATTACAGCCTG
CCTATCAAGTGACCCTTCCCGGACAAGAGCCCATTGTGAAGAAAGGGAGAATCTGTCCAATTGACATCACCCTAGCACAAAGAGCGTCTA
ATAAAAAGGTGACCAAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGA
TGGACAGGTTCGAGCAGCAGGTGCAGAACCTGGACGTCCATACATCGGTGATGGAGGACTCCATGAGCTCGGCCACCACCCTGACCACGC
CGCAGGAGCAGGTGGACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCG
CCTCTGCCGTGGGCGAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAGGTTGGCCGCCTTGAGGAACTAGCCGTGCCCCGCCG
GTGTGCACCGCCTCTGCCCCGTGATGTGCTGGAAGGCTCCTGTCCTCTCCCCACCGCGTCTTGCCTTTGTGCTGACCCCGCGGGGCTGCG
GCCGGCAGCCACTCTGCGTCTCTCACCTGCCAGGCCTGCGTGGCCTTAGGGTTGTTCCTGTTCTTTTAGGTTGGGCGGTGGGTCTGTGTC
CTGGTGTTGAGTTTCTGCAAATTTCTGGGGGTGATTTCTGTGACTCTGGGCCCACAGCGGGGAGGCCAAGAGGGGCCCTGTGGACTTTCA
CCCAGCACTGTGGGGGCCTTCAGACTCTGGGGCAGCAGACATGCTGCTTCCCATCAGCCAGAGGGGGTCAGGGCTGCCCTGTTGCCAAAC
AACTCCCTGAGGCCTCTCCGCACCACCTCAGCGGGCAGGAGGTCCCACCATGTGGACAGACATAGCCCAAGGAGGCACCACAGGTCTATG
TGTGCTGGGGGATGTCAGGTGCCACCCAACGCTGTCCTGGTGGTATTTACAATGACATCCTCCTCCTCCATCACTCCAGGGGTGGTGTCT
CGGCCGCCCCTACCAGCTGGCTGAGCCCCCTGGCCTCCTGCGCTCCCTCACTTCCCTCAGTTCCCAAAGCTGCCCAGTCCATGGGGACAG
AACCGTCACTCAGATCCACATTCAAGTGTGCCCACCCTGCAGTCTTCATCCTCACTCAGCTGCTGCCTCTGGAGGTGCCTTTGGCCACAT
GTGCTGTGCTGTTTGTCTCCTCGACAGGGAGCCTGTCCACCAGCAGGCTGCGGTCCCAGCGGGTGCGTCTGCAGCTCCTCCCCTTGGGCA
GCCTGGTTCTCCCGGAGGACCTTTCCTTGGGGCCCTGCTTCATGACGATGCTGCCTGTGTCACCCTCTACCATCTGTAAACAACTGGGTG
CCTTCCCCGACCACACCCCAATGCCTTCCCAGCTTGGAAGCCAAGGCAGCTGATGAAGGGAGCTCAGGAGAGCCGTCTTCAGCTGGGCTG
GGGTTGGGGCTGCTGTGAGGAAAACCTGCCATTGTGGCCCTGGAGAGTCACCAGCAGCTCTTGGGAAGGACTTGCTGGGAGGCTGAGAGA
GGCTTTGGGCACAGCCTGCTGTCTTTTCCATTTCCTAAAGTTTACTTCATTGTCTTGAGGCTTCCAGGTTTTGTTTTTGTTTTTGCCAAA
GTAGAAAAGGCAGGTGGTGGGCGGCTGGCAGGGAGTGCGGGTCCCCGCCCCTCTTCAGTCCTGCCCTCCCCTCCTCAGTCCTGCCCACCC
CGTGCAGCCCATGCTGAGGCTGCAGTGGTGTCGTGGGTGTTACGTGCAGGAACGTGGAGACCCTGACGTGGGCTCACTGCGTTTGGTTTT
CTTTTCAGAACTTGGGAGCCCCCAGGGAGGGGCTAGTGTTGGTAGGTCCTAGACGTGGTTCCCTCCAGCCTCCCCAAAATCAACCCTGGT
GTTGAGAGAACGTCCTTCTGTCCATCGTGGGTAACAGCCTTGGGGAGGGTGCAGAGCTCTGCAGAGCCATGGGCCAGGTGGGGCTGCCTC
AGTCCTGTCCCCTTGGGCACTGAGGAGAGGGGCCCATTCACCTTTCTCCTAGAATGCTGTTGTAAATAAACAAATGGATCCCTGGAAACT

>25724_25724_1_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000271764_CHMP1A_chr16_89713739_ENST00000397901_length(amino acids)=679AA_BP=567
MGAAAASPAATATKLRGPGFQPGPFRGRAPAWLPPRLRAWQLLRPRFLDIPWLLCSLPQATPADMFAKAFRVKSNTAIKGSDRRKLRADV
TTAFPTLGTDQVSELVPGKEELNIVKLYAHKGDAVTVYVSGGNPILFELEKNLYPTVYTLWSYPDLLPTFTTWPLVLEKLVGGADLMLPG
LVMPPAGLPQVQKGDLCAISLVGNRAPVAIGVAAMSTAEMLTSGLKGRGFSVLHTYQDHLWRSGNKSSPPSIAPLALDSADLSEEKGSVQ
MDSTLQGDMRHMTLEGEEENGEVHQAREDKSLSEAPEDTSTRGLNQDSTDSKTLQEQMDELLQQCFLHALKCRVKKADLPLLTSTFLGSH
MFSCCPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEPSPTSQTIQEGSREQPYHPPDIKPLYC
VPASMTLLFQESGHKKGSFLEGSEVRTIVINYAKKNDLVDADNKNLVRLDPILCDCILEKNEQHTVMKLPWDSLLTRCLEKLQPAYQVTL
PGQEPIVKKGRICPIDITLAQRASNKKVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVD

--------------------------------------------------------------
>25724_25724_2_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000271764_CHMP1A_chr16_89713739_ENST00000535997_length(transcript)=3660nt_BP=1718nt
AGTTCCAGGTACCGCCACTGGGGGCGGCCGCGGCCTCCCCAGCGGCAACGGCCACGAAGCTGCGCGGCCCTGGTTTCCAGCCGGGCCCTT
TTCGCGGCCGGGCCCCAGCATGGCTGCCCCCACGGCTGAGGGCCTGGCAGCTGCTGCGCCCTCGCTTTCTTGACATTCCCTGGCTTCTGT
GCTCTCTTCCCCAGGCCACCCCAGCAGACATGTTTGCCAAGGCCTTTCGGGTCAAGTCCAACACGGCCATCAAGGGGTCGGACAGGAGAA
AGCTTCGAGCTGATGTGACAACTGCTTTCCCCACCCTTGGAACTGATCAAGTCTCTGAGTTAGTACCTGGAAAGGAGGAGCTCAACATTG
TGAAGTTGTATGCTCACAAAGGGGATGCAGTGACTGTGTACGTGAGTGGTGGTAACCCCATCCTCTTTGAACTGGAGAAAAATCTGTATC
CAACAGTGTACACGCTGTGGTCCTATCCTGATCTTCTGCCAACCTTTACAACATGGCCTCTGGTGCTCGAGAAACTGGTAGGGGGAGCAG
ATTTGATGCTGCCTGGACTGGTGATGCCCCCTGCTGGTCTGCCTCAGGTACAGAAGGGCGACCTCTGTGCCATTTCTTTGGTGGGGAACA
GAGCCCCTGTAGCCATTGGAGTTGCAGCCATGTCCACAGCTGAGATGCTCACGTCAGGCCTGAAGGGAAGGGGCTTCTCTGTGCTCCACA
CTTACCAGGACCACTTGTGGCGGTCTGGAAACAAGTCCTCTCCACCTTCCATTGCTCCACTGGCCCTGGATTCAGCAGATCTCAGTGAAG
AGAAGGGGTCTGTCCAGATGGACTCCACCCTGCAGGGAGACATGAGGCACATGACCCTGGAGGGGGAAGAGGAGAATGGGGAGGTTCACC
AGGCACGTGAAGACAAGTCTCTCTCAGAAGCCCCAGAAGACACCAGCACCAGGGGCCTGAACCAAGACTCCACAGATAGCAAAACGCTTC
AAGAACAAATGGATGAGCTGTTACAGCAATGCTTCTTACATGCCTTGAAGTGCCGAGTCAAAAAGGCTGACCTCCCTTTACTCACCAGCA
CTTTCCTTGGCAGCCACATGTTCTCCTGCTGCCCTGAAGGACGACAACTGGACATAAAGAAGTCAAGCTACAAAAAGCTCTCTAAGTTCC
TGCAGCAAATGCAGCAGGAGCAGATTATACAGGTGAAGGAGCTGAGCAAAGGGGTGGAGAGCATTGTGGCTGTGGACTGGAAACACCCGA
GGATTACATCTTTCGTCATACCCGAGCCCTCCCCGACCTCCCAGACTATCCAGGAGGGTAGCAGGGAACAGCCCTATCACCCTCCAGATA
TAAAACCCCTCTACTGTGTCCCAGCCAGCATGACCCTGCTCTTCCAGGAGTCTGGCCACAAGAAGGGGAGCTTTCTGGAGGGCAGTGAGG
TCCGAACGATCGTCATTAACTACGCCAAGAAAAATGACCTGGTTGATGCAGACAACAAAAATCTTGTGAGATTGGATCCCATCCTATGTG
ACTGCATCTTAGAGAAAAATGAACAGCATACAGTCATGAAGCTTCCATGGGACAGTCTTCTGACCAGGTGTTTGGAAAAATTACAGCCTG
CCTATCAAGTGACCCTTCCCGGACAAGAGCCCATTGTGAAGAAAGGGAGAATCTGTCCAATTGACATCACCCTAGCACAAAGAGCGTCTA
ATAAAAAGGTGACCAAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGA
TGGACAGGTTCGAGCAGCAGGTGCAGAACCTGGACGTCCATACATCGGTGATGGAGGACTCCATGAGCTCGGCCACCACCCTGACCACGC
CGCAGGAGCAGGTGGACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCG
CCTCTGCCGTGGGCGAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAGGTTGGCCGCCTTGAGGAACTAGCCGTGCCCCGCCG
GTGTGCACCGCCTCTGCCCCGTGATGTGCTGGAAGGCTCCTGTCCTCTCCCCACCGCGTCTTGCCTTTGTGCTGACCCCGCGGGGCTGCG
GCCGGCAGCCACTCTGCGTCTCTCACCTGCCAGGCCTGCGTGGCCTTAGGGTTGTTCCTGTTCTTTTAGGTTGGGCGGTGGGTCTGTGTC
CTGGTGTTGAGTTTCTGCAAATTTCTGGGGGTGATTTCTGTGACTCTGGGCCCACAGCGGGGAGGCCAAGAGGGGCCCTGTGGACTTTCA
CCCAGCACTGTGGGGGCCTTCAGACTCTGGGGCAGCAGACATGCTGCTTCCCATCAGCCAGAGGGGGTCAGGGCTGCCCTGTTGCCAAAC
AACTCCCTGAGGCCTCTCCGCACCACCTCAGCGGGCAGGAGGTCCCACCATGTGGACAGACATAGCCCAAGGAGGCACCACAGGTCTATG
TGTGCTGGGGGATGTCAGGTGCCACCCAACGCTGTCCTGGTGGTATTTACAATGACATCCTCCTCCTCCATCACTCCAGGGGTGGTGTCT
CGGCCGCCCCTACCAGCTGGCTGAGCCCCCTGGCCTCCTGCGCTCCCTCACTTCCCTCAGTTCCCAAAGCTGCCCAGTCCATGGGGACAG
AACCGTCACTCAGATCCACATTCAAGTGTGCCCACCCTGCAGTCTTCATCCTCACTCAGCTGCTGCCTCTGGAGGTGCCTTTGGCCACAT
GTGCTGTGCTGTTTGTCTCCTCGACAGGGAGCCTGTCCACCAGCAGGCTGCGGTCCCAGCGGGTGCGTCTGCAGCTCCTCCCCTTGGGCA
GCCTGGTTCTCCCGGAGGACCTTTCCTTGGGGCCCTGCTTCATGACGATGCTGCCTGTGTCACCCTCTACCATCTGTAAACAACTGGGTG
CCTTCCCCGACCACACCCCAATGCCTTCCCAGCTTGGAAGCCAAGGCAGCTGATGAAGGGAGCTCAGGAGAGCCGTCTTCAGCTGGGCTG
GGGTTGGGGCTGCTGTGAGGAAAACCTGCCATTGTGGCCCTGGAGAGTCACCAGCAGCTCTTGGGAAGGACTTGCTGGGAGGCTGAGAGA
GGCTTTGGGCACAGCCTGCTGTCTTTTCCATTTCCTAAAGTTTACTTCATTGTCTTGAGGCTTCCAGGTTTTGTTTTTGTTTTTGCCAAA
GTAGAAAAGGCAGGTGGTGGGCGGCTGGCAGGGAGTGCGGGTCCCCGCCCCTCTTCAGTCCTGCCCTCCCCTCCTCAGTCCTGCCCACCC
CGTGCAGCCCATGCTGAGGCTGCAGTGGTGTCGTGGGTGTTACGTGCAGGAACGTGGAGACCCTGACGTGGGCTCACTGCGTTTGGTTTT
CTTTTCAGAACTTGGGAGCCCCCAGGGAGGGGCTAGTGTTGGTAGGTCCTAGACGTGGTTCCCTCCAGCCTCCCCAAAATCAACCCTGGT
GTTGAGAGAACGTCCTTCTGTCCATCGTGGGTAACAGCCTTGGGGAGGGTGCAGAGCTCTGCAGAGCCATGGGCCAGGTGGGGCTGCCTC

>25724_25724_2_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000271764_CHMP1A_chr16_89713739_ENST00000535997_length(amino acids)=679AA_BP=567
MGAAAASPAATATKLRGPGFQPGPFRGRAPAWLPPRLRAWQLLRPRFLDIPWLLCSLPQATPADMFAKAFRVKSNTAIKGSDRRKLRADV
TTAFPTLGTDQVSELVPGKEELNIVKLYAHKGDAVTVYVSGGNPILFELEKNLYPTVYTLWSYPDLLPTFTTWPLVLEKLVGGADLMLPG
LVMPPAGLPQVQKGDLCAISLVGNRAPVAIGVAAMSTAEMLTSGLKGRGFSVLHTYQDHLWRSGNKSSPPSIAPLALDSADLSEEKGSVQ
MDSTLQGDMRHMTLEGEEENGEVHQAREDKSLSEAPEDTSTRGLNQDSTDSKTLQEQMDELLQQCFLHALKCRVKKADLPLLTSTFLGSH
MFSCCPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEPSPTSQTIQEGSREQPYHPPDIKPLYC
VPASMTLLFQESGHKKGSFLEGSEVRTIVINYAKKNDLVDADNKNLVRLDPILCDCILEKNEQHTVMKLPWDSLLTRCLEKLQPAYQVTL
PGQEPIVKKGRICPIDITLAQRASNKKVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVD

--------------------------------------------------------------
>25724_25724_3_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000271764_CHMP1A_chr16_89713739_ENST00000550102_length(transcript)=2234nt_BP=1718nt
AGTTCCAGGTACCGCCACTGGGGGCGGCCGCGGCCTCCCCAGCGGCAACGGCCACGAAGCTGCGCGGCCCTGGTTTCCAGCCGGGCCCTT
TTCGCGGCCGGGCCCCAGCATGGCTGCCCCCACGGCTGAGGGCCTGGCAGCTGCTGCGCCCTCGCTTTCTTGACATTCCCTGGCTTCTGT
GCTCTCTTCCCCAGGCCACCCCAGCAGACATGTTTGCCAAGGCCTTTCGGGTCAAGTCCAACACGGCCATCAAGGGGTCGGACAGGAGAA
AGCTTCGAGCTGATGTGACAACTGCTTTCCCCACCCTTGGAACTGATCAAGTCTCTGAGTTAGTACCTGGAAAGGAGGAGCTCAACATTG
TGAAGTTGTATGCTCACAAAGGGGATGCAGTGACTGTGTACGTGAGTGGTGGTAACCCCATCCTCTTTGAACTGGAGAAAAATCTGTATC
CAACAGTGTACACGCTGTGGTCCTATCCTGATCTTCTGCCAACCTTTACAACATGGCCTCTGGTGCTCGAGAAACTGGTAGGGGGAGCAG
ATTTGATGCTGCCTGGACTGGTGATGCCCCCTGCTGGTCTGCCTCAGGTACAGAAGGGCGACCTCTGTGCCATTTCTTTGGTGGGGAACA
GAGCCCCTGTAGCCATTGGAGTTGCAGCCATGTCCACAGCTGAGATGCTCACGTCAGGCCTGAAGGGAAGGGGCTTCTCTGTGCTCCACA
CTTACCAGGACCACTTGTGGCGGTCTGGAAACAAGTCCTCTCCACCTTCCATTGCTCCACTGGCCCTGGATTCAGCAGATCTCAGTGAAG
AGAAGGGGTCTGTCCAGATGGACTCCACCCTGCAGGGAGACATGAGGCACATGACCCTGGAGGGGGAAGAGGAGAATGGGGAGGTTCACC
AGGCACGTGAAGACAAGTCTCTCTCAGAAGCCCCAGAAGACACCAGCACCAGGGGCCTGAACCAAGACTCCACAGATAGCAAAACGCTTC
AAGAACAAATGGATGAGCTGTTACAGCAATGCTTCTTACATGCCTTGAAGTGCCGAGTCAAAAAGGCTGACCTCCCTTTACTCACCAGCA
CTTTCCTTGGCAGCCACATGTTCTCCTGCTGCCCTGAAGGACGACAACTGGACATAAAGAAGTCAAGCTACAAAAAGCTCTCTAAGTTCC
TGCAGCAAATGCAGCAGGAGCAGATTATACAGGTGAAGGAGCTGAGCAAAGGGGTGGAGAGCATTGTGGCTGTGGACTGGAAACACCCGA
GGATTACATCTTTCGTCATACCCGAGCCCTCCCCGACCTCCCAGACTATCCAGGAGGGTAGCAGGGAACAGCCCTATCACCCTCCAGATA
TAAAACCCCTCTACTGTGTCCCAGCCAGCATGACCCTGCTCTTCCAGGAGTCTGGCCACAAGAAGGGGAGCTTTCTGGAGGGCAGTGAGG
TCCGAACGATCGTCATTAACTACGCCAAGAAAAATGACCTGGTTGATGCAGACAACAAAAATCTTGTGAGATTGGATCCCATCCTATGTG
ACTGCATCTTAGAGAAAAATGAACAGCATACAGTCATGAAGCTTCCATGGGACAGTCTTCTGACCAGGTGTTTGGAAAAATTACAGCCTG
CCTATCAAGTGACCCTTCCCGGACAAGAGCCCATTGTGAAGAAAGGGAGAATCTGTCCAATTGACATCACCCTAGCACAAAGAGCGTCTA
ATAAAAAGGTGACCAAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGA
TGGACAGGTTCGAGCAGCAGGTGCAGAACCTGGACGTCCATACATCGGTGATGGAGGACTCCATGAGCTCGGCCACCACCCTGACCACGC
CGCAGGAGCAGGTGGACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCG
CCTCTGCCGTGGGCGAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAGGTTGGCCGCCTTGAGGAACTAGCCGTGCCCCGCCG
GTGTGCACCGCCTCTGCCCCGTGATGTGCTGGAAGGCTCCTGTCCTCTCCCCACCGCGTCTTGCCTTTGTGCTGACCCCGCGGGGCTGCG

>25724_25724_3_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000271764_CHMP1A_chr16_89713739_ENST00000550102_length(amino acids)=679AA_BP=567
MGAAAASPAATATKLRGPGFQPGPFRGRAPAWLPPRLRAWQLLRPRFLDIPWLLCSLPQATPADMFAKAFRVKSNTAIKGSDRRKLRADV
TTAFPTLGTDQVSELVPGKEELNIVKLYAHKGDAVTVYVSGGNPILFELEKNLYPTVYTLWSYPDLLPTFTTWPLVLEKLVGGADLMLPG
LVMPPAGLPQVQKGDLCAISLVGNRAPVAIGVAAMSTAEMLTSGLKGRGFSVLHTYQDHLWRSGNKSSPPSIAPLALDSADLSEEKGSVQ
MDSTLQGDMRHMTLEGEEENGEVHQAREDKSLSEAPEDTSTRGLNQDSTDSKTLQEQMDELLQQCFLHALKCRVKKADLPLLTSTFLGSH
MFSCCPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEPSPTSQTIQEGSREQPYHPPDIKPLYC
VPASMTLLFQESGHKKGSFLEGSEVRTIVINYAKKNDLVDADNKNLVRLDPILCDCILEKNEQHTVMKLPWDSLLTRCLEKLQPAYQVTL
PGQEPIVKKGRICPIDITLAQRASNKKVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVD

--------------------------------------------------------------
>25724_25724_4_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000367114_CHMP1A_chr16_89713739_ENST00000397901_length(transcript)=3228nt_BP=1254nt
CGCGGCCGGGCCCCAGCATGGCTGCCCCCACGGCTGAGGGCCTGGCAGCTGCTGCGCCCTCGCTTTCTTGACATTCCCTGGCTTCTGTGC
TCTCTTCCCCAGGCCACCCCAGCAGACATGTTTGCCAAGGCCTTTCGGGTCAAGTCCAACACGGCCATCAAGGGGTCGGACAGGAGAAAG
CTTCGAGCTGATGTGACAACTGCTTTCCCCACCCTTGGAACTGATCAAGTCTCTGAGTTAGTACCTGGAAAGGAGGAGCTCAACATTGTG
AAGTTGTATGCTCACAAAGGGGATGCAGTGACTGTGTACGTGAGTGGTGGTAACCCCATCCTCTTTGAACTGGAGAAAAATCTGTATCCA
ACAGTGTACACGCTGTGGTCCTATCCTGATCTTCTGCCAACCTTTACAACATGGCCTCTGGTGCTCGAGAAACTGGTAGGGGGAGCAGAT
TTGATGCTGCCTGGACTGGTGATGCCCCCTGCTGGTCTGCCTCAGGTACAGAAGGGCGACCTCTGTGCCATTTCTTTGGTGGGGAACAGA
GCCCCTGTAGCCATTGGAGTTGCAGCCATGTCCACAGCTGAGATGCTCACGTCAGGCCTGAAGGGAAGGGGCTTCTCTGTGCTCCACACT
TACCAGGACCACTTGTGCCCTGAAGGACGACAACTGGACATAAAGAAGTCAAGCTACAAAAAGCTCTCTAAGTTCCTGCAGCAAATGCAG
CAGGAGCAGATTATACAGGTGAAGGAGCTGAGCAAAGGGGTGGAGAGCATTGTGGCTGTGGACTGGAAACACCCGAGGATTACATCTTTC
GTCATACCCGAGCCCTCCCCGACCTCCCAGACTATCCAGGAGGGTAGCAGGGAACAGCCCTATCACCCTCCAGATATAAAACCCCTCTAC
TGTGTCCCAGCCAGCATGACCCTGCTCTTCCAGGAGTCTGGCCACAAGAAGGGGAGCTTTCTGGAGGGCAGTGAGGTCCGAACGATCGTC
ATTAACTACGCCAAGAAAAATGACCTGGTTGATGCAGACAACAAAAATCTTGTGAGATTGGATCCCATCCTATGTGACTGCATCTTAGAG
AAAAATGAACAGCATACAGTCATGAAGCTTCCATGGGACAGTCTTCTGACCAGGTGTTTGGAAAAATTACAGCCTGCCTATCAAGTGACC
CTTCCCGGACAAGAGCCCATTGTGAAGAAAGGGAGAATCTGTCCAATTGACATCACCCTAGCACAAAGAGCGTCTAATAAAAAGGTGACC
AAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGATGGACAGGTTCGAG
CAGCAGGTGCAGAACCTGGACGTCCATACATCGGTGATGGAGGACTCCATGAGCTCGGCCACCACCCTGACCACGCCGCAGGAGCAGGTG
GACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCGCCTCTGCCGTGGGC
GAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAGGTTGGCCGCCTTGAGGAACTAGCCGTGCCCCGCCGGTGTGCACCGCCTC
TGCCCCGTGATGTGCTGGAAGGCTCCTGTCCTCTCCCCACCGCGTCTTGCCTTTGTGCTGACCCCGCGGGGCTGCGGCCGGCAGCCACTC
TGCGTCTCTCACCTGCCAGGCCTGCGTGGCCTTAGGGTTGTTCCTGTTCTTTTAGGTTGGGCGGTGGGTCTGTGTCCTGGTGTTGAGTTT
CTGCAAATTTCTGGGGGTGATTTCTGTGACTCTGGGCCCACAGCGGGGAGGCCAAGAGGGGCCCTGTGGACTTTCACCCAGCACTGTGGG
GGCCTTCAGACTCTGGGGCAGCAGACATGCTGCTTCCCATCAGCCAGAGGGGGTCAGGGCTGCCCTGTTGCCAAACAACTCCCTGAGGCC
TCTCCGCACCACCTCAGCGGGCAGGAGGTCCCACCATGTGGACAGACATAGCCCAAGGAGGCACCACAGGTCTATGTGTGCTGGGGGATG
TCAGGTGCCACCCAACGCTGTCCTGGTGGTATTTACAATGACATCCTCCTCCTCCATCACTCCAGGGGTGGTGTCTCGGCCGCCCCTACC
AGCTGGCTGAGCCCCCTGGCCTCCTGCGCTCCCTCACTTCCCTCAGTTCCCAAAGCTGCCCAGTCCATGGGGACAGAACCGTCACTCAGA
TCCACATTCAAGTGTGCCCACCCTGCAGTCTTCATCCTCACTCAGCTGCTGCCTCTGGAGGTGCCTTTGGCCACATGTGCTGTGCTGTTT
GTCTCCTCGACAGGGAGCCTGTCCACCAGCAGGCTGCGGTCCCAGCGGGTGCGTCTGCAGCTCCTCCCCTTGGGCAGCCTGGTTCTCCCG
GAGGACCTTTCCTTGGGGCCCTGCTTCATGACGATGCTGCCTGTGTCACCCTCTACCATCTGTAAACAACTGGGTGCCTTCCCCGACCAC
ACCCCAATGCCTTCCCAGCTTGGAAGCCAAGGCAGCTGATGAAGGGAGCTCAGGAGAGCCGTCTTCAGCTGGGCTGGGGTTGGGGCTGCT
GTGAGGAAAACCTGCCATTGTGGCCCTGGAGAGTCACCAGCAGCTCTTGGGAAGGACTTGCTGGGAGGCTGAGAGAGGCTTTGGGCACAG
CCTGCTGTCTTTTCCATTTCCTAAAGTTTACTTCATTGTCTTGAGGCTTCCAGGTTTTGTTTTTGTTTTTGCCAAAGTAGAAAAGGCAGG
TGGTGGGCGGCTGGCAGGGAGTGCGGGTCCCCGCCCCTCTTCAGTCCTGCCCTCCCCTCCTCAGTCCTGCCCACCCCGTGCAGCCCATGC
TGAGGCTGCAGTGGTGTCGTGGGTGTTACGTGCAGGAACGTGGAGACCCTGACGTGGGCTCACTGCGTTTGGTTTTCTTTTCAGAACTTG
GGAGCCCCCAGGGAGGGGCTAGTGTTGGTAGGTCCTAGACGTGGTTCCCTCCAGCCTCCCCAAAATCAACCCTGGTGTTGAGAGAACGTC
CTTCTGTCCATCGTGGGTAACAGCCTTGGGGAGGGTGCAGAGCTCTGCAGAGCCATGGGCCAGGTGGGGCTGCCTCAGTCCTGTCCCCTT

>25724_25724_4_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000367114_CHMP1A_chr16_89713739_ENST00000397901_length(amino acids)=523AA_BP=411
MPPRLRAWQLLRPRFLDIPWLLCSLPQATPADMFAKAFRVKSNTAIKGSDRRKLRADVTTAFPTLGTDQVSELVPGKEELNIVKLYAHKG
DAVTVYVSGGNPILFELEKNLYPTVYTLWSYPDLLPTFTTWPLVLEKLVGGADLMLPGLVMPPAGLPQVQKGDLCAISLVGNRAPVAIGV
AAMSTAEMLTSGLKGRGFSVLHTYQDHLCPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEPSP
TSQTIQEGSREQPYHPPDIKPLYCVPASMTLLFQESGHKKGSFLEGSEVRTIVINYAKKNDLVDADNKNLVRLDPILCDCILEKNEQHTV
MKLPWDSLLTRCLEKLQPAYQVTLPGQEPIVKKGRICPIDITLAQRASNKKVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLD

--------------------------------------------------------------
>25724_25724_5_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000367114_CHMP1A_chr16_89713739_ENST00000535997_length(transcript)=3196nt_BP=1254nt
CGCGGCCGGGCCCCAGCATGGCTGCCCCCACGGCTGAGGGCCTGGCAGCTGCTGCGCCCTCGCTTTCTTGACATTCCCTGGCTTCTGTGC
TCTCTTCCCCAGGCCACCCCAGCAGACATGTTTGCCAAGGCCTTTCGGGTCAAGTCCAACACGGCCATCAAGGGGTCGGACAGGAGAAAG
CTTCGAGCTGATGTGACAACTGCTTTCCCCACCCTTGGAACTGATCAAGTCTCTGAGTTAGTACCTGGAAAGGAGGAGCTCAACATTGTG
AAGTTGTATGCTCACAAAGGGGATGCAGTGACTGTGTACGTGAGTGGTGGTAACCCCATCCTCTTTGAACTGGAGAAAAATCTGTATCCA
ACAGTGTACACGCTGTGGTCCTATCCTGATCTTCTGCCAACCTTTACAACATGGCCTCTGGTGCTCGAGAAACTGGTAGGGGGAGCAGAT
TTGATGCTGCCTGGACTGGTGATGCCCCCTGCTGGTCTGCCTCAGGTACAGAAGGGCGACCTCTGTGCCATTTCTTTGGTGGGGAACAGA
GCCCCTGTAGCCATTGGAGTTGCAGCCATGTCCACAGCTGAGATGCTCACGTCAGGCCTGAAGGGAAGGGGCTTCTCTGTGCTCCACACT
TACCAGGACCACTTGTGCCCTGAAGGACGACAACTGGACATAAAGAAGTCAAGCTACAAAAAGCTCTCTAAGTTCCTGCAGCAAATGCAG
CAGGAGCAGATTATACAGGTGAAGGAGCTGAGCAAAGGGGTGGAGAGCATTGTGGCTGTGGACTGGAAACACCCGAGGATTACATCTTTC
GTCATACCCGAGCCCTCCCCGACCTCCCAGACTATCCAGGAGGGTAGCAGGGAACAGCCCTATCACCCTCCAGATATAAAACCCCTCTAC
TGTGTCCCAGCCAGCATGACCCTGCTCTTCCAGGAGTCTGGCCACAAGAAGGGGAGCTTTCTGGAGGGCAGTGAGGTCCGAACGATCGTC
ATTAACTACGCCAAGAAAAATGACCTGGTTGATGCAGACAACAAAAATCTTGTGAGATTGGATCCCATCCTATGTGACTGCATCTTAGAG
AAAAATGAACAGCATACAGTCATGAAGCTTCCATGGGACAGTCTTCTGACCAGGTGTTTGGAAAAATTACAGCCTGCCTATCAAGTGACC
CTTCCCGGACAAGAGCCCATTGTGAAGAAAGGGAGAATCTGTCCAATTGACATCACCCTAGCACAAAGAGCGTCTAATAAAAAGGTGACC
AAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGATGGACAGGTTCGAG
CAGCAGGTGCAGAACCTGGACGTCCATACATCGGTGATGGAGGACTCCATGAGCTCGGCCACCACCCTGACCACGCCGCAGGAGCAGGTG
GACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCGCCTCTGCCGTGGGC
GAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAGGTTGGCCGCCTTGAGGAACTAGCCGTGCCCCGCCGGTGTGCACCGCCTC
TGCCCCGTGATGTGCTGGAAGGCTCCTGTCCTCTCCCCACCGCGTCTTGCCTTTGTGCTGACCCCGCGGGGCTGCGGCCGGCAGCCACTC
TGCGTCTCTCACCTGCCAGGCCTGCGTGGCCTTAGGGTTGTTCCTGTTCTTTTAGGTTGGGCGGTGGGTCTGTGTCCTGGTGTTGAGTTT
CTGCAAATTTCTGGGGGTGATTTCTGTGACTCTGGGCCCACAGCGGGGAGGCCAAGAGGGGCCCTGTGGACTTTCACCCAGCACTGTGGG
GGCCTTCAGACTCTGGGGCAGCAGACATGCTGCTTCCCATCAGCCAGAGGGGGTCAGGGCTGCCCTGTTGCCAAACAACTCCCTGAGGCC
TCTCCGCACCACCTCAGCGGGCAGGAGGTCCCACCATGTGGACAGACATAGCCCAAGGAGGCACCACAGGTCTATGTGTGCTGGGGGATG
TCAGGTGCCACCCAACGCTGTCCTGGTGGTATTTACAATGACATCCTCCTCCTCCATCACTCCAGGGGTGGTGTCTCGGCCGCCCCTACC
AGCTGGCTGAGCCCCCTGGCCTCCTGCGCTCCCTCACTTCCCTCAGTTCCCAAAGCTGCCCAGTCCATGGGGACAGAACCGTCACTCAGA
TCCACATTCAAGTGTGCCCACCCTGCAGTCTTCATCCTCACTCAGCTGCTGCCTCTGGAGGTGCCTTTGGCCACATGTGCTGTGCTGTTT
GTCTCCTCGACAGGGAGCCTGTCCACCAGCAGGCTGCGGTCCCAGCGGGTGCGTCTGCAGCTCCTCCCCTTGGGCAGCCTGGTTCTCCCG
GAGGACCTTTCCTTGGGGCCCTGCTTCATGACGATGCTGCCTGTGTCACCCTCTACCATCTGTAAACAACTGGGTGCCTTCCCCGACCAC
ACCCCAATGCCTTCCCAGCTTGGAAGCCAAGGCAGCTGATGAAGGGAGCTCAGGAGAGCCGTCTTCAGCTGGGCTGGGGTTGGGGCTGCT
GTGAGGAAAACCTGCCATTGTGGCCCTGGAGAGTCACCAGCAGCTCTTGGGAAGGACTTGCTGGGAGGCTGAGAGAGGCTTTGGGCACAG
CCTGCTGTCTTTTCCATTTCCTAAAGTTTACTTCATTGTCTTGAGGCTTCCAGGTTTTGTTTTTGTTTTTGCCAAAGTAGAAAAGGCAGG
TGGTGGGCGGCTGGCAGGGAGTGCGGGTCCCCGCCCCTCTTCAGTCCTGCCCTCCCCTCCTCAGTCCTGCCCACCCCGTGCAGCCCATGC
TGAGGCTGCAGTGGTGTCGTGGGTGTTACGTGCAGGAACGTGGAGACCCTGACGTGGGCTCACTGCGTTTGGTTTTCTTTTCAGAACTTG
GGAGCCCCCAGGGAGGGGCTAGTGTTGGTAGGTCCTAGACGTGGTTCCCTCCAGCCTCCCCAAAATCAACCCTGGTGTTGAGAGAACGTC
CTTCTGTCCATCGTGGGTAACAGCCTTGGGGAGGGTGCAGAGCTCTGCAGAGCCATGGGCCAGGTGGGGCTGCCTCAGTCCTGTCCCCTT

>25724_25724_5_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000367114_CHMP1A_chr16_89713739_ENST00000535997_length(amino acids)=523AA_BP=411
MPPRLRAWQLLRPRFLDIPWLLCSLPQATPADMFAKAFRVKSNTAIKGSDRRKLRADVTTAFPTLGTDQVSELVPGKEELNIVKLYAHKG
DAVTVYVSGGNPILFELEKNLYPTVYTLWSYPDLLPTFTTWPLVLEKLVGGADLMLPGLVMPPAGLPQVQKGDLCAISLVGNRAPVAIGV
AAMSTAEMLTSGLKGRGFSVLHTYQDHLCPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEPSP
TSQTIQEGSREQPYHPPDIKPLYCVPASMTLLFQESGHKKGSFLEGSEVRTIVINYAKKNDLVDADNKNLVRLDPILCDCILEKNEQHTV
MKLPWDSLLTRCLEKLQPAYQVTLPGQEPIVKKGRICPIDITLAQRASNKKVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLD

--------------------------------------------------------------
>25724_25724_6_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000367114_CHMP1A_chr16_89713739_ENST00000550102_length(transcript)=1770nt_BP=1254nt
CGCGGCCGGGCCCCAGCATGGCTGCCCCCACGGCTGAGGGCCTGGCAGCTGCTGCGCCCTCGCTTTCTTGACATTCCCTGGCTTCTGTGC
TCTCTTCCCCAGGCCACCCCAGCAGACATGTTTGCCAAGGCCTTTCGGGTCAAGTCCAACACGGCCATCAAGGGGTCGGACAGGAGAAAG
CTTCGAGCTGATGTGACAACTGCTTTCCCCACCCTTGGAACTGATCAAGTCTCTGAGTTAGTACCTGGAAAGGAGGAGCTCAACATTGTG
AAGTTGTATGCTCACAAAGGGGATGCAGTGACTGTGTACGTGAGTGGTGGTAACCCCATCCTCTTTGAACTGGAGAAAAATCTGTATCCA
ACAGTGTACACGCTGTGGTCCTATCCTGATCTTCTGCCAACCTTTACAACATGGCCTCTGGTGCTCGAGAAACTGGTAGGGGGAGCAGAT
TTGATGCTGCCTGGACTGGTGATGCCCCCTGCTGGTCTGCCTCAGGTACAGAAGGGCGACCTCTGTGCCATTTCTTTGGTGGGGAACAGA
GCCCCTGTAGCCATTGGAGTTGCAGCCATGTCCACAGCTGAGATGCTCACGTCAGGCCTGAAGGGAAGGGGCTTCTCTGTGCTCCACACT
TACCAGGACCACTTGTGCCCTGAAGGACGACAACTGGACATAAAGAAGTCAAGCTACAAAAAGCTCTCTAAGTTCCTGCAGCAAATGCAG
CAGGAGCAGATTATACAGGTGAAGGAGCTGAGCAAAGGGGTGGAGAGCATTGTGGCTGTGGACTGGAAACACCCGAGGATTACATCTTTC
GTCATACCCGAGCCCTCCCCGACCTCCCAGACTATCCAGGAGGGTAGCAGGGAACAGCCCTATCACCCTCCAGATATAAAACCCCTCTAC
TGTGTCCCAGCCAGCATGACCCTGCTCTTCCAGGAGTCTGGCCACAAGAAGGGGAGCTTTCTGGAGGGCAGTGAGGTCCGAACGATCGTC
ATTAACTACGCCAAGAAAAATGACCTGGTTGATGCAGACAACAAAAATCTTGTGAGATTGGATCCCATCCTATGTGACTGCATCTTAGAG
AAAAATGAACAGCATACAGTCATGAAGCTTCCATGGGACAGTCTTCTGACCAGGTGTTTGGAAAAATTACAGCCTGCCTATCAAGTGACC
CTTCCCGGACAAGAGCCCATTGTGAAGAAAGGGAGAATCTGTCCAATTGACATCACCCTAGCACAAAGAGCGTCTAATAAAAAGGTGACC
AAGAATATGGCCCAGGTGACCAAAGCCCTGGACAAGGCCCTGAGCACCATGGACCTGCAGAAGGTCTCCTCAGTGATGGACAGGTTCGAG
CAGCAGGTGCAGAACCTGGACGTCCATACATCGGTGATGGAGGACTCCATGAGCTCGGCCACCACCCTGACCACGCCGCAGGAGCAGGTG
GACAGCCTCATCATGCAGATCGCCGAGGAGAATGGCCTGGAGGTGCTGGACCAGCTCAGCCAGCTGCCCGAGGGCGCCTCTGCCGTGGGC
GAGAGCTCTGTGCGCAGCCAGGAGGACCAGCTGTCACGGAGGTTGGCCGCCTTGAGGAACTAGCCGTGCCCCGCCGGTGTGCACCGCCTC
TGCCCCGTGATGTGCTGGAAGGCTCCTGTCCTCTCCCCACCGCGTCTTGCCTTTGTGCTGACCCCGCGGGGCTGCGGCCGGCAGCCACTC

>25724_25724_6_EIF2D-CHMP1A_EIF2D_chr1_206769067_ENST00000367114_CHMP1A_chr16_89713739_ENST00000550102_length(amino acids)=523AA_BP=411
MPPRLRAWQLLRPRFLDIPWLLCSLPQATPADMFAKAFRVKSNTAIKGSDRRKLRADVTTAFPTLGTDQVSELVPGKEELNIVKLYAHKG
DAVTVYVSGGNPILFELEKNLYPTVYTLWSYPDLLPTFTTWPLVLEKLVGGADLMLPGLVMPPAGLPQVQKGDLCAISLVGNRAPVAIGV
AAMSTAEMLTSGLKGRGFSVLHTYQDHLCPEGRQLDIKKSSYKKLSKFLQQMQQEQIIQVKELSKGVESIVAVDWKHPRITSFVIPEPSP
TSQTIQEGSREQPYHPPDIKPLYCVPASMTLLFQESGHKKGSFLEGSEVRTIVINYAKKNDLVDADNKNLVRLDPILCDCILEKNEQHTV
MKLPWDSLLTRCLEKLQPAYQVTLPGQEPIVKKGRICPIDITLAQRASNKKVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLD

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

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Fusion Gene PPI Analysis for EIF2D-CHMP1A


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 EIF2D-CHMP1A


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 EIF2D-CHMP1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0266468Congenital pontocerebellar hypoplasia1GENOMICS_ENGLAND
TgeneC3554209Congenital pontocerebellar hypoplasia type 81CTD_human;GENOMICS_ENGLAND;ORPHANET