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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 Diseases

Fusion gene:FAM118A-CYB5R3 (FusionGDB2 ID:HG55007TG1727)

Fusion Gene Summary for FAM118A-CYB5R3

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM118A-CYB5R3
Fusion gene ID: hg55007tg1727
HgeneTgene
Gene symbol

FAM118A

CYB5R3

Gene ID

55007

1727

Gene namefamily with sequence similarity 118 member Acytochrome b5 reductase 3
SynonymsC22orf8B5R|DIA1
Cytomap('FAM118A')('CYB5R3')

22q13.31

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM118AbK268H5.C22.4NADH-cytochrome b5 reductase 3NADH-cytochrome b5 reductase 3 membrane-bound formNADH-cytochrome b5 reductase 3 soluble formdiaphorase-1mutant NADH-cytochrome b5 reductase
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000216214, ENST00000405673, 
ENST00000441876, ENST00000405548, 
ENST00000491671, 
Fusion gene scores* DoF score11 X 7 X 8=61614 X 14 X 8=1568
# samples 1118
** MAII scorelog2(11/616*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1568*10)=-3.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM118A [Title/Abstract] AND CYB5R3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM118A(45719308)-CYB5R3(43032852), # samples:2
Anticipated loss of major functional domain due to fusion event.FAM118A-CYB5R3 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.
FAM118A-CYB5R3 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

check buttonFusion gene breakpoints across FAM118A (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 CYB5R3 (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
ChimerDB4ESCATCGA-JY-A93DFAM118Achr22

45719308

+CYB5R3chr22

43032852

-


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Fusion Gene ORF analysis for FAM118A-CYB5R3

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-5UTRENST00000216214ENST00000352397FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000216214ENST00000396303FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000216214ENST00000402438FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000216214ENST00000407332FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000216214ENST00000407623FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000405673ENST00000352397FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000405673ENST00000396303FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000405673ENST00000402438FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000405673ENST00000407332FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000405673ENST00000407623FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000441876ENST00000352397FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000441876ENST00000396303FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000441876ENST00000402438FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000441876ENST00000407332FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
5CDS-5UTRENST00000441876ENST00000407623FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
In-frameENST00000216214ENST00000361740FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
In-frameENST00000405673ENST00000361740FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
In-frameENST00000441876ENST00000361740FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-3CDSENST00000405548ENST00000361740FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-3CDSENST00000491671ENST00000361740FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000405548ENST00000352397FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000405548ENST00000396303FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000405548ENST00000402438FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000405548ENST00000407332FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000405548ENST00000407623FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000491671ENST00000352397FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000491671ENST00000396303FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000491671ENST00000402438FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000491671ENST00000407332FAM118Achr22

45719308

+CYB5R3chr22

43032852

-
intron-5UTRENST00000491671ENST00000407623FAM118Achr22

45719308

+CYB5R3chr22

43032852

-

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)
ENST00000216214FAM118Achr2245719308+ENST00000361740CYB5R3chr2243032852-395211346782018446
ENST00000441876FAM118Achr2245719308+ENST00000361740CYB5R3chr2243032852-34646461901530446
ENST00000405673FAM118Achr2245719308+ENST00000361740CYB5R3chr2243032852-3187369691253394

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
ENST00000216214ENST00000361740FAM118Achr2245719308+CYB5R3chr2243032852-0.008178030.99182194
ENST00000441876ENST00000361740FAM118Achr2245719308+CYB5R3chr2243032852-0.0089216910.9910783
ENST00000405673ENST00000361740FAM118Achr2245719308+CYB5R3chr2243032852-0.0087675430.99123245

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Fusion Genomic Features for FAM118A-CYB5R3


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 FAM118A-CYB5R3


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/chr22:45719308/chr22:43032852)
- 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
HgeneFAM118Achr22:45719308chr22:43032852ENST00000216214+41030_50100358.0TransmembraneHelical
HgeneFAM118Achr22:45719308chr22:43032852ENST00000441876+3930_50100358.0TransmembraneHelical
TgeneCYB5R3chr22:45719308chr22:43032852ENST000003523970940_1527302.0DomainFAD-binding FR-type
TgeneCYB5R3chr22:45719308chr22:43032852ENST000003617400940_15240335.0DomainFAD-binding FR-type
TgeneCYB5R3chr22:45719308chr22:43032852ENST000003963030940_1520279.0DomainFAD-binding FR-type
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000040243811040_1520279.0DomainFAD-binding FR-type
TgeneCYB5R3chr22:45719308chr22:43032852ENST000004073320840_1520279.0DomainFAD-binding FR-type
TgeneCYB5R3chr22:45719308chr22:43032852ENST000004076230940_1520279.0DomainFAD-binding FR-type
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000035239709132_1477302.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000035239709171_2067302.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000036174009132_14740335.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000036174009171_20640335.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000039630309132_1470279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000039630309171_2060279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST00000402438110132_1470279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST00000402438110171_2060279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000040733208132_1470279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000040733208171_2060279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000040762309132_1470279.0Nucleotide bindingFAD
TgeneCYB5R3chr22:45719308chr22:43032852ENST0000040762309171_2060279.0Nucleotide bindingFAD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FAM118A-CYB5R3


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.
>28379_28379_1_FAM118A-CYB5R3_FAM118A_chr22_45719308_ENST00000216214_CYB5R3_chr22_43032852_ENST00000361740_length(transcript)=3952nt_BP=1134nt
AAAAGACTTCAGTGGCAGACAAAGGAGGAGTAATAAGATCGCTAGGGGGCCCGTGCCCAGCCCACCCACGCACAATCTCAGTCCTCGCAA
TACCCACAAGGTAGGTGCTAGGATCACACCCTTTACGGACGCGGCACCTGCGACAGGGATGCGCGAGGAGTCAGGGGGCCTCGCCGGATC
GAACCTAAGCTGGGGAAGAGTATTTCTTGTATTTTTAGGAGAAATTCTCAGCCTCGGGGAAGAGTATTTCTTGATGAGGGAAGAGCGCGG
GGAAGACACTCACGCACGCACAAACATGTGGGCGGCCATGGTGTGCCCAGCGCCGTGCTGGCTTCTGGGAACCCCCAGTGGACAAGACGG
ACAAGGTACCGGCTCTCAGGGGAAGTGGGAGCCAGTCACAAGCGTACCTAATTTCGGAGAGTGACAAGTACTCTGAAAAAGAAAGAAGGT
AGGGCTGGTGACTGGCCAATTTAAGCGGGCAGGAGTCTGCTGGGGGACGGAGACCAGCCTCAGGTCTGGGTTGGGGACAGAAGCTGTGCC
TAAGTGTGGTGCAGGATGCAGTTGCAAAGGAGCGCTTCCGATCGCACTTGATGCTCGCCACGTCCCTGCAAAGTGCTCCCGCCCCCTTTC
TGCAAATGAGGAAACGGGACGCGCGGCTCGCCGGGCCAGCCCGCGTGCCTGCGCAGTCCCCTCCCCGAGAACCATCCCCTTGCCCCGCCC
AGCGTCAGGGGTGCGCGGCCGCCGAGAGACCCCGGAGGCGTAGCCGGCTGCGGAGGCGAAGAGGTGGCAGCGCGAGCTGGGACCAGCGTC
TCGGAGGCGCCGCAGAATTCACAGATGGATTCAGTGGAAAAGACAACAAATAGAAGTGAACAAAAATCCAGAAAGTTTTTAAAAAGCCTC
ATCCGGAAACAGCCCCAGGAACTGCTCCTGGTTATCGGGACTGGCGTCAGCGCAGCAGTGGCCCCCGGAATCCCTGCCCTTTGCTCGTGG
AGAAGCTGCATCGAGGCCGTCATCGAGGCTGCAGAGCAGCTGGAGGTGCTGCACCCCGGAGACGTCGCCGAGTTCCGGAGGAAAGTGACA
AAGGACCGGGACCTGTTGGTTGTCGCCCATGATCTGATCCGGAAGATGTCACCTTTGGGCCATATGGTGCTCTTCCCAGTCTGGTTCCTG
TACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATCACCCTCGAGAGCCCGGACATCAAGTACCCGCTGCGGCTCATCGAC
CGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTGCCGTCACCCCAGCACATCCTGGGCCTCCCTGTCGGCCAGCACATC
TACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTATACACCCATCTCCAGCGATGATGACAAGGGCTTCGTGGACCTGGTC
ATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCCCGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAGACACC
ATTGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATC
AGGACAGTGAAGTCTGTGGGCATGATCGCGGGAGGGACAGGCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGACCCTGAT
GACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGACCGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAACAAACAT
TCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAAGCCTGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGG
GACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGTGGCCCCCCACCCATGATCCAGTACGCCTGCCTTCCCAACCTGGAC
CACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTGAGGGCCGGGCACGGTCACACGGCCACCCGCCCCGCGCACCCCACGCCCTGTT
CACGCTCACCCAGTCACCTCCCCACATCGCACACTGGGGCCCCGGGTTCAGCCTGGCCTGCCCGTGCCCTGGTGAATCACCTGGCTGAGC
AGTTCCCCTGGAGCCCCTTCGGGAGCAGGGCTGTGTCCCAGATGGGCCACGGCTGAGCCTTCAGAGTACGTCCTGCCTGGCACTTACTGG
TCCTTACCAGAGACGCCCAGCCCCATCCCTGTCCTCATGACCCCTCGTCCACCCCCCACACACACTATAAGGCTGAGGGCTGCCAGCAGC
CCCGTCTGCCCACCATTCCCGGCCGTGGACCATAGTCGGGATGTCAGCAGACACACATGGGCAGCCCAAAGCTGCAGGTGCCAGGGCCCA
CCCCAGCCTCGCCTGTCACCCCCACTCCCGCCTCAGGGCCAGGCCCAGGCCTCACCACCTGACGCTGCATGAGACATTGACACCAGAAAG
CCCTCTTGGGGGCACTGCTCCCTACCCCAGGGCCCTGGCCAGCCGGGAGCTTGGCTCTCCTCTGGCTAGAGTGGGAAGAGGGGGCTGGCC
ATGGGGCCCTCCCAGAACCTCAGCATTTCCTTCCAGCCCATCCAAACACTGAGGCAGCCTTGGGGAACCCCGAGCTGGGGGGTTGGCAGC
CCACTGCACCGCCTCAGGGTTTTGGGGTCCTGGGCTGGGGCCACCATCCCTGATGGCAGAACTCCCACAACCACATGTATTTATTCCTCT
GTCCTAAACCGTCCCCTCCTTCCCTCACCCCCAGCACAGGGGGATTCTGAGCAGTGCCTCTTGTCTGAGGGACATATCAGTGACCTCGAC
GTTGCCTTTAGACTACAGTTGTGTTAGCCTCTTGCGTATTGGCTTTTTCAGAGTCATTTATGAGCAGAAAAAAAAAAAGTAAAACTTTGC
TAATATTAACCCTTCTCTAGCTCCTCGAGGGTCTGTGACCTGCAACACAAGGGGTGGGGTCAGGAAAGGGCTGGGGAAGACCTAGCATTT
TTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTTTGTCACCCAGGCTGGAGTGGCATGATCTCAGCTCACTACAACCTCCACC
TCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAAAAGTGCCCACCACCACACCCAGCTAGTTTTTGTATTTT
TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC
GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG
TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT
ACAGGCGTGAGCCACTGCGCCCGGCTCCAGCATTTATTTCTGATGTATCTTTGTGGTAGAAAATTTGGAAAGTGCAGAGAAGTATACACA
GGAAGAAAAATTCCCAACCCCCAGAGGCAAACCAGCTGAAACCACGCAACCCCAGTCACCCCAATGCACCGCGAGGCTGCTGCCTCCTGT
CAGGGTCAGATGAGCCTCGAGGCTCAGGAAAGTCAGAGGATGCCATCTGCATGGTGGTAAATTACAGAGGTGATGAGGCAAGGTGGGTGT
GGGGCTGTTCTTAAAACGGGGCAGCAGGAAGGCCCCAAGGAGATGGATTTGGGCTGGGACGGGAAGAGAGAGCTGGCCATGCTGGGGTGG
GTGGGTGTTCAAATGGTGGAAACAGCAGACGCAAAGGCCCTGCCGTTGGAACCAGCTTGTGGAATAAACTTTCAGAAACAGA

>28379_28379_1_FAM118A-CYB5R3_FAM118A_chr22_45719308_ENST00000216214_CYB5R3_chr22_43032852_ENST00000361740_length(amino acids)=446AA_BP=152
MRSPLPENHPLAPPSVRGARPPRDPGGVAGCGGEEVAARAGTSVSEAPQNSQMDSVEKTTNRSEQKSRKFLKSLIRKQPQELLLVIGTGV
SAAVAPGIPALCSWRSCIEAVIEAAEQLEVLHPGDVAEFRRKVTKDRDLLVVAHDLIRKMSPLGHMVLFPVWFLYSLLMKLFQRSTPAIT
LESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGG
KMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKD
ILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF

--------------------------------------------------------------
>28379_28379_2_FAM118A-CYB5R3_FAM118A_chr22_45719308_ENST00000405673_CYB5R3_chr22_43032852_ENST00000361740_length(transcript)=3187nt_BP=369nt
GGCTGCGGAGGCGAAGAGGTGGCAGCGCGAGCTGGGACCAGCGTCTCGGAGGCGCCGCAGAATTCACAGATGGATTCAGTGGAAAAGACA
ACAAATAGAAGTGAACAAAAATCCAGAAAGTTTTTAAAAAGCCTCATCCGGAAACAGCCCCAGGAACTGCTCCTGGTTATCGGGACTGGC
GTCAGCGCAGCAGTGGCCCCCGGAATCCCTGCCCTTTGCTCGTGGAGAAGCTGCATCGAGGCCGTCATCGAGGCTGCAGAGCAGCTGGAG
GTGCTGCACCCCGGAGACGTCGCCGAGTTCCGGAGGAAAGTGACAAAGGACCGGGACCTGTTGGTTGTCGCCCATGATCTGATCCGGAAG
ATGTCACCTTTGGGCCATATGGTGCTCTTCCCAGTCTGGTTCCTGTACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCCAGCCATC
ACCCTCGAGAGCCCGGACATCAAGTACCCGCTGCGGCTCATCGACCGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTTTGCCCTG
CCGTCACCCCAGCACATCCTGGGCCTCCCTGTCGGCCAGCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCGGCCCTAT
ACACCCATCTCCAGCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCCCGCTGGA
GGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAGACACCATTGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCAGGGCAAA
GGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATCAGGACAGTGAAGTCTGTGGGCATGATCGCGGGAGGGACAGGCATC
ACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGACCGAGAAG
GACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAACAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGCCCCTGAA
GCCTGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGGGACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCTGATGTGT
GGCCCCCCACCCATGATCCAGTACGCCTGCCTTCCCAACCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTGAGGGCCG
GGCACGGTCACACGGCCACCCGCCCCGCGCACCCCACGCCCTGTTCACGCTCACCCAGTCACCTCCCCACATCGCACACTGGGGCCCCGG
GTTCAGCCTGGCCTGCCCGTGCCCTGGTGAATCACCTGGCTGAGCAGTTCCCCTGGAGCCCCTTCGGGAGCAGGGCTGTGTCCCAGATGG
GCCACGGCTGAGCCTTCAGAGTACGTCCTGCCTGGCACTTACTGGTCCTTACCAGAGACGCCCAGCCCCATCCCTGTCCTCATGACCCCT
CGTCCACCCCCCACACACACTATAAGGCTGAGGGCTGCCAGCAGCCCCGTCTGCCCACCATTCCCGGCCGTGGACCATAGTCGGGATGTC
AGCAGACACACATGGGCAGCCCAAAGCTGCAGGTGCCAGGGCCCACCCCAGCCTCGCCTGTCACCCCCACTCCCGCCTCAGGGCCAGGCC
CAGGCCTCACCACCTGACGCTGCATGAGACATTGACACCAGAAAGCCCTCTTGGGGGCACTGCTCCCTACCCCAGGGCCCTGGCCAGCCG
GGAGCTTGGCTCTCCTCTGGCTAGAGTGGGAAGAGGGGGCTGGCCATGGGGCCCTCCCAGAACCTCAGCATTTCCTTCCAGCCCATCCAA
ACACTGAGGCAGCCTTGGGGAACCCCGAGCTGGGGGGTTGGCAGCCCACTGCACCGCCTCAGGGTTTTGGGGTCCTGGGCTGGGGCCACC
ATCCCTGATGGCAGAACTCCCACAACCACATGTATTTATTCCTCTGTCCTAAACCGTCCCCTCCTTCCCTCACCCCCAGCACAGGGGGAT
TCTGAGCAGTGCCTCTTGTCTGAGGGACATATCAGTGACCTCGACGTTGCCTTTAGACTACAGTTGTGTTAGCCTCTTGCGTATTGGCTT
TTTCAGAGTCATTTATGAGCAGAAAAAAAAAAAGTAAAACTTTGCTAATATTAACCCTTCTCTAGCTCCTCGAGGGTCTGTGACCTGCAA
CACAAGGGGTGGGGTCAGGAAAGGGCTGGGGAAGACCTAGCATTTTTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCCCTTTGTC
ACCCAGGCTGGAGTGGCATGATCTCAGCTCACTACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTG
GGACTAAAAGTGCCCACCACCACACCCAGCTAGTTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT
GGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC
TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC
TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCTCCAGCATTTATTTCTGATG
TATCTTTGTGGTAGAAAATTTGGAAAGTGCAGAGAAGTATACACAGGAAGAAAAATTCCCAACCCCCAGAGGCAAACCAGCTGAAACCAC
GCAACCCCAGTCACCCCAATGCACCGCGAGGCTGCTGCCTCCTGTCAGGGTCAGATGAGCCTCGAGGCTCAGGAAAGTCAGAGGATGCCA
TCTGCATGGTGGTAAATTACAGAGGTGATGAGGCAAGGTGGGTGTGGGGCTGTTCTTAAAACGGGGCAGCAGGAAGGCCCCAAGGAGATG
GATTTGGGCTGGGACGGGAAGAGAGAGCTGGCCATGCTGGGGTGGGTGGGTGTTCAAATGGTGGAAACAGCAGACGCAAAGGCCCTGCCG
TTGGAACCAGCTTGTGGAATAAACTTTCAGAAACAGA

>28379_28379_2_FAM118A-CYB5R3_FAM118A_chr22_45719308_ENST00000405673_CYB5R3_chr22_43032852_ENST00000361740_length(amino acids)=394AA_BP=100
MDSVEKTTNRSEQKSRKFLKSLIRKQPQELLLVIGTGVSAAVAPGIPALCSWRSCIEAVIEAAEQLEVLHPGDVAEFRRKVTKDRDLLVV
AHDLIRKMSPLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDG
NLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGM
IAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEE
EPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF

--------------------------------------------------------------
>28379_28379_3_FAM118A-CYB5R3_FAM118A_chr22_45719308_ENST00000441876_CYB5R3_chr22_43032852_ENST00000361740_length(transcript)=3464nt_BP=646nt
CGGGGCGGGGCCTCCGGGGACCGCGGGGCCGTTGGTTTCGGGACGGAACGTTCACGCGGCTGGGGCGGGCGCGCGGGGGAAGGGTTTGCG
GCGGCGCCGCTGCCGGCTAACGCGGAGGGGCGCCTGGAGGCGGCGTGGCGTCCGCTCTGGCTCCGACTCCGGCTCTCGCTCTCGCTTCTA
GCCCGCGTGCCTGCGCAGTCCCCTCCCCGAGAACCATCCCCTTGCCCCGCCCAGCGTCAGGGGTGCGCGGCCGCCGAGAGACCCCGGAGG
CGTAGCCGGCTGCGGAGGCGAAGAGGTGGCAGCGCGAGCTGGGACCAGCGTCTCGGAGGCGCCGCAGAATTCACAGATGGATTCAGTGGA
AAAGACAACAAATAGAAGTGAACAAAAATCCAGAAAGTTTTTAAAAAGCCTCATCCGGAAACAGCCCCAGGAACTGCTCCTGGTTATCGG
GACTGGCGTCAGCGCAGCAGTGGCCCCCGGAATCCCTGCCCTTTGCTCGTGGAGAAGCTGCATCGAGGCCGTCATCGAGGCTGCAGAGCA
GCTGGAGGTGCTGCACCCCGGAGACGTCGCCGAGTTCCGGAGGAAAGTGACAAAGGACCGGGACCTGTTGGTTGTCGCCCATGATCTGAT
CCGGAAGATGTCACCTTTGGGCCATATGGTGCTCTTCCCAGTCTGGTTCCTGTACAGTCTGCTCATGAAGCTGTTCCAGCGCTCCACGCC
AGCCATCACCCTCGAGAGCCCGGACATCAAGTACCCGCTGCGGCTCATCGACCGGGAGATCATCAGCCATGACACCCGGCGCTTCCGCTT
TGCCCTGCCGTCACCCCAGCACATCCTGGGCCTCCCTGTCGGCCAGCACATCTACCTCTCGGCTCGAATTGATGGAAACCTGGTCGTCCG
GCCCTATACACCCATCTCCAGCGATGATGACAAGGGCTTCGTGGACCTGGTCATCAAGGTTTACTTCAAGGACACCCATCCCAAGTTTCC
CGCTGGAGGGAAGATGTCTCAGTACCTGGAGAGCATGCAGATTGGAGACACCATTGAGTTCCGGGGCCCCAGTGGGCTGCTGGTCTACCA
GGGCAAAGGGAAGTTCGCCATCCGACCTGACAAAAAGTCCAACCCTATCATCAGGACAGTGAAGTCTGTGGGCATGATCGCGGGAGGGAC
AGGCATCACCCCGATGCTGCAGGTGATCCGCGCCATCATGAAGGACCCTGATGACCACACTGTGTGCCACCTGCTCTTTGCCAACCAGAC
CGAGAAGGACATCCTGCTGCGACCTGAGCTGGAGGAACTCAGGAACAAACATTCTGCACGCTTCAAGCTCTGGTACACGCTGGACAGAGC
CCCTGAAGCCTGGGACTACGGCCAGGGCTTCGTGAATGAGGAGATGATCCGGGACCACCTTCCACCCCCAGAGGAGGAGCCGCTGGTGCT
GATGTGTGGCCCCCCACCCATGATCCAGTACGCCTGCCTTCCCAACCTGGACCACGTGGGCCACCCCACGGAGCGCTGCTTCGTCTTCTG
AGGGCCGGGCACGGTCACACGGCCACCCGCCCCGCGCACCCCACGCCCTGTTCACGCTCACCCAGTCACCTCCCCACATCGCACACTGGG
GCCCCGGGTTCAGCCTGGCCTGCCCGTGCCCTGGTGAATCACCTGGCTGAGCAGTTCCCCTGGAGCCCCTTCGGGAGCAGGGCTGTGTCC
CAGATGGGCCACGGCTGAGCCTTCAGAGTACGTCCTGCCTGGCACTTACTGGTCCTTACCAGAGACGCCCAGCCCCATCCCTGTCCTCAT
GACCCCTCGTCCACCCCCCACACACACTATAAGGCTGAGGGCTGCCAGCAGCCCCGTCTGCCCACCATTCCCGGCCGTGGACCATAGTCG
GGATGTCAGCAGACACACATGGGCAGCCCAAAGCTGCAGGTGCCAGGGCCCACCCCAGCCTCGCCTGTCACCCCCACTCCCGCCTCAGGG
CCAGGCCCAGGCCTCACCACCTGACGCTGCATGAGACATTGACACCAGAAAGCCCTCTTGGGGGCACTGCTCCCTACCCCAGGGCCCTGG
CCAGCCGGGAGCTTGGCTCTCCTCTGGCTAGAGTGGGAAGAGGGGGCTGGCCATGGGGCCCTCCCAGAACCTCAGCATTTCCTTCCAGCC
CATCCAAACACTGAGGCAGCCTTGGGGAACCCCGAGCTGGGGGGTTGGCAGCCCACTGCACCGCCTCAGGGTTTTGGGGTCCTGGGCTGG
GGCCACCATCCCTGATGGCAGAACTCCCACAACCACATGTATTTATTCCTCTGTCCTAAACCGTCCCCTCCTTCCCTCACCCCCAGCACA
GGGGGATTCTGAGCAGTGCCTCTTGTCTGAGGGACATATCAGTGACCTCGACGTTGCCTTTAGACTACAGTTGTGTTAGCCTCTTGCGTA
TTGGCTTTTTCAGAGTCATTTATGAGCAGAAAAAAAAAAAGTAAAACTTTGCTAATATTAACCCTTCTCTAGCTCCTCGAGGGTCTGTGA
CCTGCAACACAAGGGGTGGGGTCAGGAAAGGGCTGGGGAAGACCTAGCATTTTTTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCC
CTTTGTCACCCAGGCTGGAGTGGCATGATCTCAGCTCACTACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGA
GTAGCTGGGACTAAAAGTGCCCACCACCACACCCAGCTAGTTTTTGTATTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC
CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG
CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC
GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCTCCAGCATTTATT
TCTGATGTATCTTTGTGGTAGAAAATTTGGAAAGTGCAGAGAAGTATACACAGGAAGAAAAATTCCCAACCCCCAGAGGCAAACCAGCTG
AAACCACGCAACCCCAGTCACCCCAATGCACCGCGAGGCTGCTGCCTCCTGTCAGGGTCAGATGAGCCTCGAGGCTCAGGAAAGTCAGAG
GATGCCATCTGCATGGTGGTAAATTACAGAGGTGATGAGGCAAGGTGGGTGTGGGGCTGTTCTTAAAACGGGGCAGCAGGAAGGCCCCAA
GGAGATGGATTTGGGCTGGGACGGGAAGAGAGAGCTGGCCATGCTGGGGTGGGTGGGTGTTCAAATGGTGGAAACAGCAGACGCAAAGGC
CCTGCCGTTGGAACCAGCTTGTGGAATAAACTTTCAGAAACAGA

>28379_28379_3_FAM118A-CYB5R3_FAM118A_chr22_45719308_ENST00000441876_CYB5R3_chr22_43032852_ENST00000361740_length(amino acids)=446AA_BP=152
MRSPLPENHPLAPPSVRGARPPRDPGGVAGCGGEEVAARAGTSVSEAPQNSQMDSVEKTTNRSEQKSRKFLKSLIRKQPQELLLVIGTGV
SAAVAPGIPALCSWRSCIEAVIEAAEQLEVLHPGDVAEFRRKVTKDRDLLVVAHDLIRKMSPLGHMVLFPVWFLYSLLMKLFQRSTPAIT
LESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPVGQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGG
KMSQYLESMQIGDTIEFRGPSGLLVYQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKD
ILLRPELEELRNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFVF

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Fusion Gene PPI Analysis for FAM118A-CYB5R3


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 FAM118A-CYB5R3


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 FAM118A-CYB5R3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0268193NADH cytochrome B5 reductase deficiency12CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0025637Methemoglobinemia2CTD_human;GENOMICS_ENGLAND
TgeneC0272087Congenital Methemoglobinemia2ORPHANET
TgeneC0010520Cyanosis1CTD_human