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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:AFMID-TMC8 (FusionGDB2 ID:HG125061TG147138)

Fusion Gene Summary for AFMID-TMC8

check button Fusion gene summary
Fusion gene informationFusion gene name: AFMID-TMC8
Fusion gene ID: hg125061tg147138
HgeneTgene
Gene symbol

AFMID

TMC8

Gene ID

125061

147138

Gene namearylformamidasetransmembrane channel like 8
SynonymsFKF|KF|KFAEV2|EVER2|EVIN2
Cytomap('AFMID')('TMC8')

17q25.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionkynurenine formamidaseKFaseN-formylkynurenine formamidaseprobable arylformamidasetransmembrane channel-like protein 8epidermodysplasia verruciformis 2epidermodysplasia verruciformis protein 2
Modification date2020031320200313
UniProtAcc

Q63HM1

.
Ensembl transtripts involved in fusion geneENST00000589664, ENST00000327898, 
ENST00000409257, ENST00000588800, 
ENST00000586731, ENST00000589256, 
ENST00000591952, 
Fusion gene scores* DoF score6 X 5 X 3=908 X 7 X 4=224
# samples 68
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFMID [Title/Abstract] AND TMC8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAFMID(76198832)-TMC8(76136915), # samples:2
Anticipated loss of major functional domain due to fusion event.AFMID-TMC8 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.
AFMID-TMC8 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.
AFMID-TMC8 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
AFMID-TMC8 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
TgeneTMC8

GO:0001558

regulation of cell growth

18158319

TgeneTMC8

GO:0031333

negative regulation of protein complex assembly

23429285

TgeneTMC8

GO:0032091

negative regulation of protein binding

23429285

TgeneTMC8

GO:0055069

zinc ion homeostasis

18158319

TgeneTMC8

GO:1902041

regulation of extrinsic apoptotic signaling pathway via death domain receptors

23429285


check buttonFusion gene breakpoints across AFMID (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 TMC8 (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
ChimerDB4STADTCGA-BR-8361-01AAFMIDchr17

76198832

-TMC8chr17

76136915

+
ChimerDB4STADTCGA-BR-8361-01AAFMIDchr17

76198832

+TMC8chr17

76136915

+


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Fusion Gene ORF analysis for AFMID-TMC8

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-3CDSENST00000589664ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
3UTR-3CDSENST00000589664ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
3UTR-3UTRENST00000589664ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+
5CDS-3UTRENST00000327898ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+
5CDS-3UTRENST00000409257ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+
5CDS-3UTRENST00000588800ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+
Frame-shiftENST00000327898ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
Frame-shiftENST00000409257ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
Frame-shiftENST00000588800ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
In-frameENST00000327898ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
In-frameENST00000409257ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
In-frameENST00000588800ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3CDSENST00000586731ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3CDSENST00000586731ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3CDSENST00000589256ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3CDSENST00000589256ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3CDSENST00000591952ENST00000318430AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3CDSENST00000591952ENST00000589691AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3UTRENST00000586731ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3UTRENST00000589256ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+
intron-3UTRENST00000591952ENST00000591144AFMIDchr17

76198832

+TMC8chr17

76136915

+

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)

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

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Fusion Genomic Features for AFMID-TMC8


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)
AFMIDchr1776198832+TMC8chr1776136917+6.59E-060.99999344
AFMIDchr1776198832+TMC8chr1776136917+6.59E-060.99999344

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.
genomic feature of top 1%

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Fusion Protein Features for AFMID-TMC8


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/chr17:76198832/chr17:76136915)
- 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
AFMID

Q63HM1

.
FUNCTION: Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway of tryptophan degradation. Kynurenine may be further oxidized to nicotinic acid, NAD(H) and NADP(H). Required for elimination of toxic metabolites. {ECO:0000255|HAMAP-Rule:MF_03014}.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
HgeneAFMIDchr17:76198832chr17:76136915ENST00000327898+41195_99102309.0MotifNote=HGGXW
HgeneAFMIDchr17:76198832chr17:76136915ENST00000409257+41195_99102304.0MotifNote=HGGXW
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315448_488411504.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315510_531411504.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315553_594411504.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315616_726411504.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315427_447411504.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315489_509411504.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315532_552411504.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315595_615411504.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416136_200634727.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST0000031843014161_114634727.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416222_299634727.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416321_338634727.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416360_426634727.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416448_488634727.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416510_531634727.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416553_594634727.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416616_726634727.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315136_200411504.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST0000058969113151_114411504.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315222_299411504.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315321_338411504.0Topological domainLumenal
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315360_426411504.0Topological domainCytoplasmic
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416115_135634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416201_221634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416300_320634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416339_359634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416427_447634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416489_509634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416532_552634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000003184301416595_615634727.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315115_135411504.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315201_221411504.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315300_320411504.0TransmembraneHelical
TgeneTMC8chr17:76198832chr17:76136915ENST000005896911315339_359411504.0TransmembraneHelical


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Fusion Gene Sequence for AFMID-TMC8


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.

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Fusion Gene PPI Analysis for AFMID-TMC8


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 AFMID-TMC8


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 AFMID-TMC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4722258EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 22GENOMICS_ENGLAND
TgeneC0014522Epidermodysplasia Verruciformis1GENOMICS_ENGLAND;ORPHANET
TgeneC4722564EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 11GENOMICS_ENGLAND