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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:AMDHD2-COG7 (FusionGDB2 ID:4205)

Fusion Gene Summary for AMDHD2-COG7

check button Fusion gene summary
Fusion gene informationFusion gene name: AMDHD2-COG7
Fusion gene ID: 4205
HgeneTgene
Gene symbol

AMDHD2

COG7

Gene ID

51005

91949

Gene nameamidohydrolase domain containing 2component of oligomeric golgi complex 7
SynonymsCGI-14CDG2E
Cytomap

16p13.3

16p12.2

Type of geneprotein-codingprotein-coding
DescriptionN-acetylglucosamine-6-phosphate deacetylaseamidohydrolase domain-containing protein 2glcNAc 6-P deacetylaseputative N-acetylglucosamine-6-phosphate deacetylaseconserved oligomeric Golgi complex subunit 7COG complex subunit 7
Modification date2020032720200313
UniProtAcc

Q9Y303

P83436

Ensembl transtripts involved in fusion geneENST00000293971, ENST00000302956, 
ENST00000413459, ENST00000565570, 
ENST00000569635, ENST00000307149, 
Fusion gene scores* DoF score5 X 5 X 4=1008 X 6 X 5=240
# samples 57
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/240*10)=-1.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AMDHD2 [Title/Abstract] AND COG7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMDHD2(2571124)-COG7(23409450), # samples:3
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

check buttonFusion gene breakpoints across AMDHD2 (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 COG7 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-61-2111-01AAMDHD2chr16

2571124

+COG7chr16

23409450

-
ChimerDB4OVTCGA-61-2111AMDHD2chr16

2571124

+COG7chr16

23409450

-


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Fusion Gene ORF analysis for AMDHD2-COG7

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-intronENST00000293971ENST00000569635AMDHD2chr16

2571124

+COG7chr16

23409450

-
5CDS-intronENST00000302956ENST00000569635AMDHD2chr16

2571124

+COG7chr16

23409450

-
5CDS-intronENST00000413459ENST00000569635AMDHD2chr16

2571124

+COG7chr16

23409450

-
In-frameENST00000293971ENST00000307149AMDHD2chr16

2571124

+COG7chr16

23409450

-
In-frameENST00000302956ENST00000307149AMDHD2chr16

2571124

+COG7chr16

23409450

-
In-frameENST00000413459ENST00000307149AMDHD2chr16

2571124

+COG7chr16

23409450

-
intron-3CDSENST00000565570ENST00000307149AMDHD2chr16

2571124

+COG7chr16

23409450

-
intron-intronENST00000565570ENST00000569635AMDHD2chr16

2571124

+COG7chr16

23409450

-

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)
ENST00000293971AMDHD2chr162571124+ENST00000307149COG7chr1623409450-139145446963305
ENST00000302956AMDHD2chr162571124+ENST00000307149COG7chr1623409450-139145446963305
ENST00000413459AMDHD2chr162571124+ENST00000307149COG7chr1623409450-136642921938305

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
ENST00000293971ENST00000307149AMDHD2chr162571124+COG7chr1623409450-0.0064790480.9935209
ENST00000302956ENST00000307149AMDHD2chr162571124+COG7chr1623409450-0.0064790480.9935209
ENST00000413459ENST00000307149AMDHD2chr162571124+COG7chr1623409450-0.0060221710.9939778

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Fusion Genomic Features for AMDHD2-COG7


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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for AMDHD2-COG7


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/chr16:2571124/chr16:23409450)
- 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
AMDHD2

Q9Y303

COG7

P83436

FUNCTION: Hydrolyzes the N-glycolyl group from N-glycolylglucosamine 6-phosphate (GlcNGc-6-P) in the N-glycolylneuraminic acid (Neu5Gc) degradation pathway. Although human is not able to catalyze formation of Neu5Gc due to the inactive CMAHP enzyme, Neu5Gc is present in food and must be degraded. {ECO:0000269|PubMed:22692205}.FUNCTION: Required for normal Golgi function. {ECO:0000269|PubMed:11980916}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000293971+311154_155120410.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000293971+311235_236120410.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000293971+311269_272120410.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000293971+311328_330120410.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000302956+310154_155120440.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000302956+310235_236120440.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000302956+310269_272120440.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000302956+310328_330120440.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000413459+311154_155120595.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000413459+311235_236120595.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000413459+311269_272120595.0RegionSubstrate binding
HgeneAMDHD2chr16:2571124chr16:23409450ENST00000413459+311328_330120595.0RegionSubstrate binding


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Fusion Gene Sequence for AMDHD2-COG7


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.
>4205_4205_1_AMDHD2-COG7_AMDHD2_chr16_2571124_ENST00000293971_COG7_chr16_23409450_ENST00000307149_length(transcript)=1391nt_BP=454nt
GGCGCGGTCTCAGCTCTCGGCTGGGGTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCT
CACGATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGGA
GGATCTGTGGGTGCGCGGAGGCCGCATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGG
GGGCCGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTC
GGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCA
CAAGAGCTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCGCCTTTAGTCTCACCCCTCTCGAGTACATCAGCAACAT
CGGGCAGTACATCATGTCCCTCCCCCTGAATCTTGAGCCATTTGTGACTCAGGAGGACTCTGCCTTAGAGTTGGCATTGCACGCTGGAAA
GCTGCCATTTCCTCCTGAGCAGGGGGATGAATTGCCCGAGCTGGACAACATGGCTGACAACTGGCTGGGCTCGATCGCCAGAGCCACAAT
GCAGACCTACTGTGATGCGATCCTACAGATCCCTGAGCTGAGCCCACACTCTGCCAAGCAGCTGGCCACTGACATCGACTATCTGATCAA
CGTGATGGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGACGCTACTGAAGACCAGGCCTGAGGACTATAGACAGGT
CAGCAAAGGCCTGCCCCGTCGCCTGGCCACCACCGTGGCCACCATGCGGAGTGTGAATTACTGACCCCACCACACACCGGACCACCAAGA
GAGCCAGGGCTGCTGTTTCGCGACTCACCAGCACAGATTTGCTCAGAAACTCTGCCCAAGATTGGGCAGAAGTTACTTTAAAAAGACTTG
GTTCAGCTGGTCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGATGGATCATGAAGCCAGGAGTTCGAGACCAG
CCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACAGCAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAG
ACTTGGTTCATTTGTATAATCAAAAAGAGTTGTAAATTAAAGATGTATTATTTATCAGAGAAGACTTTTTAGATAATTTTTTTAAAGGAT

>4205_4205_1_AMDHD2-COG7_AMDHD2_chr16_2571124_ENST00000293971_COG7_chr16_23409450_ENST00000307149_length(amino acids)=305AA_BP=136
MAAAGLRSRSLPTRLTMRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQING
GFGVDFSQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFV
TQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLINVMDALGLQPSRTLQH

--------------------------------------------------------------
>4205_4205_2_AMDHD2-COG7_AMDHD2_chr16_2571124_ENST00000302956_COG7_chr16_23409450_ENST00000307149_length(transcript)=1391nt_BP=454nt
GGCGCGGTCTCAGCTCTCGGCTGGGGTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCT
CACGATGCGCGGCGAGCAGGGCGCGGCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGGA
GGATCTGTGGGTGCGCGGAGGCCGCATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGG
GGGCCGCATCTTGGCTCCCGGATTCATCGACGTGCAGATCAACGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTC
GGGGGTTGCCCTCGTGGCCCGGAGGATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCA
CAAGAGCTGGAATACGGCTGGCATCGGAGAAACCCTCACAGATGAACTGCCCGCCTTTAGTCTCACCCCTCTCGAGTACATCAGCAACAT
CGGGCAGTACATCATGTCCCTCCCCCTGAATCTTGAGCCATTTGTGACTCAGGAGGACTCTGCCTTAGAGTTGGCATTGCACGCTGGAAA
GCTGCCATTTCCTCCTGAGCAGGGGGATGAATTGCCCGAGCTGGACAACATGGCTGACAACTGGCTGGGCTCGATCGCCAGAGCCACAAT
GCAGACCTACTGTGATGCGATCCTACAGATCCCTGAGCTGAGCCCACACTCTGCCAAGCAGCTGGCCACTGACATCGACTATCTGATCAA
CGTGATGGATGCCCTGGGCCTGCAGCCGTCCCGCACCCTCCAGCACATCGTGACGCTACTGAAGACCAGGCCTGAGGACTATAGACAGGT
CAGCAAAGGCCTGCCCCGTCGCCTGGCCACCACCGTGGCCACCATGCGGAGTGTGAATTACTGACCCCACCACACACCGGACCACCAAGA
GAGCCAGGGCTGCTGTTTCGCGACTCACCAGCACAGATTTGCTCAGAAACTCTGCCCAAGATTGGGCAGAAGTTACTTTAAAAAGACTTG
GTTCAGCTGGTCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGATGGATCATGAAGCCAGGAGTTCGAGACCAG
CCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACAGCAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAG
ACTTGGTTCATTTGTATAATCAAAAAGAGTTGTAAATTAAAGATGTATTATTTATCAGAGAAGACTTTTTAGATAATTTTTTTAAAGGAT

>4205_4205_2_AMDHD2-COG7_AMDHD2_chr16_2571124_ENST00000302956_COG7_chr16_23409450_ENST00000307149_length(amino acids)=305AA_BP=136
MAAAGLRSRSLPTRLTMRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQING
GFGVDFSQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFV
TQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLINVMDALGLQPSRTLQH

--------------------------------------------------------------
>4205_4205_3_AMDHD2-COG7_AMDHD2_chr16_2571124_ENST00000413459_COG7_chr16_23409450_ENST00000307149_length(transcript)=1366nt_BP=429nt
GTTCGTCACTGGGCGCGGGATTTGGCCGCCGCGGGGCTCCGGAGCCGCTCGCTCCCGACACGGCTCACGATGCGCGGCGAGCAGGGCGCG
GCGGGGGCCCGCGTGCTCCAGTTCACTAACTGCCGGATCCTGCGCGGAGGGAAACTGCTCAGGGAGGATCTGTGGGTGCGCGGAGGCCGC
ATCTTGGACCCAGAGAAGCTGTTCTTTGAGGAGCGGCGCGTGGCCGACGAGCGGCGGGACTGCGGGGGCCGCATCTTGGCTCCCGGATTC
ATCGACGTGCAGATCAACGGTGGATTTGGTGTTGACTTCTCTCAAGCCACGGAGGACGTGGGTTCGGGGGTTGCCCTCGTGGCCCGGAGG
ATCCTGTCGCACGGCGTCACCTCCTTCTGCCCCACCCTGGTCACTTCCCCACCGGAGGTTTATCACAAGAGCTGGAATACGGCTGGCATC
GGAGAAACCCTCACAGATGAACTGCCCGCCTTTAGTCTCACCCCTCTCGAGTACATCAGCAACATCGGGCAGTACATCATGTCCCTCCCC
CTGAATCTTGAGCCATTTGTGACTCAGGAGGACTCTGCCTTAGAGTTGGCATTGCACGCTGGAAAGCTGCCATTTCCTCCTGAGCAGGGG
GATGAATTGCCCGAGCTGGACAACATGGCTGACAACTGGCTGGGCTCGATCGCCAGAGCCACAATGCAGACCTACTGTGATGCGATCCTA
CAGATCCCTGAGCTGAGCCCACACTCTGCCAAGCAGCTGGCCACTGACATCGACTATCTGATCAACGTGATGGATGCCCTGGGCCTGCAG
CCGTCCCGCACCCTCCAGCACATCGTGACGCTACTGAAGACCAGGCCTGAGGACTATAGACAGGTCAGCAAAGGCCTGCCCCGTCGCCTG
GCCACCACCGTGGCCACCATGCGGAGTGTGAATTACTGACCCCACCACACACCGGACCACCAAGAGAGCCAGGGCTGCTGTTTCGCGACT
CACCAGCACAGATTTGCTCAGAAACTCTGCCCAAGATTGGGCAGAAGTTACTTTAAAAAGACTTGGTTCAGCTGGTCACGGTGGCTCACG
CCTGTAATCCCAGCACTTTGGGAGGCCAAGCCAGATGGATCATGAAGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCAT
CTCTACTAAAAATACAAAAATTAACAGCAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGACTTGGTTCATTTGTATAATCAAAA
AGAGTTGTAAATTAAAGATGTATTATTTATCAGAGAAGACTTTTTAGATAATTTTTTTAAAGGATCAGATCTTGAAAATGGAATAAATAA

>4205_4205_3_AMDHD2-COG7_AMDHD2_chr16_2571124_ENST00000413459_COG7_chr16_23409450_ENST00000307149_length(amino acids)=305AA_BP=136
MAAAGLRSRSLPTRLTMRGEQGAAGARVLQFTNCRILRGGKLLREDLWVRGGRILDPEKLFFEERRVADERRDCGGRILAPGFIDVQING
GFGVDFSQATEDVGSGVALVARRILSHGVTSFCPTLVTSPPEVYHKSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFV
TQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLINVMDALGLQPSRTLQH

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

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Fusion Gene PPI Analysis for AMDHD2-COG7


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 AMDHD2-COG7


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 AMDHD2-COG7


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