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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:BTNL8-SPG7 (FusionGDB2 ID:10609)

Fusion Gene Summary for BTNL8-SPG7

check button Fusion gene summary
Fusion gene informationFusion gene name: BTNL8-SPG7
Fusion gene ID: 10609
HgeneTgene
Gene symbol

BTNL8

SPG7

Gene ID

79908

6687

Gene namebutyrophilin like 8SPG7 matrix AAA peptidase subunit, paraplegin
SynonymsBTN9.2CAR|CMAR|PGN|SPG5C
Cytomap

5q35.3

16q24.3

Type of geneprotein-codingprotein-coding
Descriptionbutyrophilin-like protein 8B7-H5 costimulatory moleculeparapleginSPG7, paraplegin matrix AAA peptidase subunitcell matrix adhesion regulatorspastic paraplegia 7 (pure and complicated autosomal recessive)spastic paraplegia 7 protein
Modification date2020031320200320
UniProtAcc

Q6UX41

.
Ensembl transtripts involved in fusion geneENST00000231229, ENST00000340184, 
ENST00000400707, ENST00000508408, 
ENST00000511704, ENST00000505126, 
ENST00000533815, 		ENST00000268704, 
ENST00000341316, ENST00000565891, 
Fusion gene scores* DoF score1 X 1 X 1=111 X 8 X 7=616
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/616*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BTNL8 [Title/Abstract] AND SPG7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTNL8(180326359)-SPG7(89611056), # samples:1
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 BTNL8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SPG7 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4Non-CancerERR315409BTNL8chr5

180326359

+SPG7chr16

89611056

+


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Fusion Gene ORF analysis for BTNL8-SPG7

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
In-frameENST00000231229ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000231229ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000231229ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+
In-frameENST00000340184ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000340184ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000340184ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+
5UTR-3CDSENST00000400707ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
5UTR-intronENST00000400707ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
5UTR-intronENST00000400707ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+
In-frameENST00000508408ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000508408ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000508408ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+
In-frameENST00000511704ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000511704ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
5CDS-intronENST00000511704ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+
intron-3CDSENST00000505126ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
intron-intronENST00000505126ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
intron-intronENST00000505126ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+
intron-3CDSENST00000533815ENST00000268704BTNL8chr5

180326359

+SPG7chr16

89611056

+
intron-intronENST00000533815ENST00000341316BTNL8chr5

180326359

+SPG7chr16

89611056

+
intron-intronENST00000533815ENST00000565891BTNL8chr5

180326359

+SPG7chr16

89611056

+

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)
ENST00000231229BTNL8chr5180326359+ENST00000268704SPG7chr1689611056+20202831421279380
ENST00000340184BTNL8chr5180326359+ENST00000268704SPG7chr1689611056+19922551393251380
ENST00000508408BTNL8chr5180326359+ENST00000268704SPG7chr1689611056+182386122482380
ENST00000511704BTNL8chr5180326359+ENST00000268704SPG7chr1689611056+182386122482380

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
ENST00000231229ENST00000268704BTNL8chr5180326359+SPG7chr1689611056+0.0028387470.99716127
ENST00000340184ENST00000268704BTNL8chr5180326359+SPG7chr1689611056+0.0030823470.9969176
ENST00000508408ENST00000268704BTNL8chr5180326359+SPG7chr1689611056+0.0029610830.99703896
ENST00000511704ENST00000268704BTNL8chr5180326359+SPG7chr1689611056+0.0029610830.99703896

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Fusion Genomic Features for BTNL8-SPG7


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)
BTNL8chr5180326359+SPG7chr1689611055+0.0001569790.999843
BTNL8chr5180326359+SPG7chr1689611055+0.0001569790.999843

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.

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 BTNL8-SPG7


check button Go to

FGviewer for the breakpoints of chr5:180326359-chr16:89611056

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BTNL8

Q6UX41

.
FUNCTION: May stimulate primary immune response. Acts on T-cell stimulated sub-optimally through the TCR/CD3 complex stimulating their proliferation and cytokine production. {ECO:0000269|PubMed:24036152}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010349_3570490.0Nucleotide bindingATP
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010106_1440490.0Topological domainMitochondrial matrix
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010166_2480490.0Topological domainMitochondrial intermembrane
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010270_7950490.0Topological domainMitochondrial matrix
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010145_1650490.0TransmembraneHelical
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010249_2690490.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBTNL8chr5:180326359chr16:89611056ENST00000231229+18133_22216.333333333333332348.0DomainNote=Ig-like V-type 2
HgeneBTNL8chr5:180326359chr16:89611056ENST00000231229+1819_13216.333333333333332348.0DomainNote=Ig-like V-type 1
HgeneBTNL8chr5:180326359chr16:89611056ENST00000231229+18270_46616.333333333333332348.0DomainB30.2/SPRY
HgeneBTNL8chr5:180326359chr16:89611056ENST00000340184+18133_22216.333333333333332501.0DomainNote=Ig-like V-type 2
HgeneBTNL8chr5:180326359chr16:89611056ENST00000340184+1819_13216.333333333333332501.0DomainNote=Ig-like V-type 1
HgeneBTNL8chr5:180326359chr16:89611056ENST00000340184+18270_46616.333333333333332501.0DomainB30.2/SPRY
HgeneBTNL8chr5:180326359chr16:89611056ENST00000400707+18133_2220376.0DomainNote=Ig-like V-type 2
HgeneBTNL8chr5:180326359chr16:89611056ENST00000400707+1819_1320376.0DomainNote=Ig-like V-type 1
HgeneBTNL8chr5:180326359chr16:89611056ENST00000400707+18270_4660376.0DomainB30.2/SPRY
HgeneBTNL8chr5:180326359chr16:89611056ENST00000508408+17133_22216.333333333333332341.0DomainNote=Ig-like V-type 2
HgeneBTNL8chr5:180326359chr16:89611056ENST00000508408+1719_13216.333333333333332341.0DomainNote=Ig-like V-type 1
HgeneBTNL8chr5:180326359chr16:89611056ENST00000508408+17270_46616.333333333333332341.0DomainB30.2/SPRY
HgeneBTNL8chr5:180326359chr16:89611056ENST00000511704+17133_22216.333333333333332385.0DomainNote=Ig-like V-type 2
HgeneBTNL8chr5:180326359chr16:89611056ENST00000511704+1719_13216.333333333333332385.0DomainNote=Ig-like V-type 1
HgeneBTNL8chr5:180326359chr16:89611056ENST00000511704+17270_46616.333333333333332385.0DomainB30.2/SPRY
HgeneBTNL8chr5:180326359chr16:89611056ENST00000533815+17133_2220317.0DomainNote=Ig-like V-type 2
HgeneBTNL8chr5:180326359chr16:89611056ENST00000533815+1719_1320317.0DomainNote=Ig-like V-type 1
HgeneBTNL8chr5:180326359chr16:89611056ENST00000533815+17270_4660317.0DomainB30.2/SPRY
HgeneBTNL8chr5:180326359chr16:89611056ENST00000231229+1818_23816.333333333333332348.0Topological domainExtracellular
HgeneBTNL8chr5:180326359chr16:89611056ENST00000231229+18260_50016.333333333333332348.0Topological domainCytoplasmic
HgeneBTNL8chr5:180326359chr16:89611056ENST00000340184+1818_23816.333333333333332501.0Topological domainExtracellular
HgeneBTNL8chr5:180326359chr16:89611056ENST00000340184+18260_50016.333333333333332501.0Topological domainCytoplasmic
HgeneBTNL8chr5:180326359chr16:89611056ENST00000400707+1818_2380376.0Topological domainExtracellular
HgeneBTNL8chr5:180326359chr16:89611056ENST00000400707+18260_5000376.0Topological domainCytoplasmic
HgeneBTNL8chr5:180326359chr16:89611056ENST00000508408+1718_23816.333333333333332341.0Topological domainExtracellular
HgeneBTNL8chr5:180326359chr16:89611056ENST00000508408+17260_50016.333333333333332341.0Topological domainCytoplasmic
HgeneBTNL8chr5:180326359chr16:89611056ENST00000511704+1718_23816.333333333333332385.0Topological domainExtracellular
HgeneBTNL8chr5:180326359chr16:89611056ENST00000511704+17260_50016.333333333333332385.0Topological domainCytoplasmic
HgeneBTNL8chr5:180326359chr16:89611056ENST00000533815+1718_2380317.0Topological domainExtracellular
HgeneBTNL8chr5:180326359chr16:89611056ENST00000533815+17260_5000317.0Topological domainCytoplasmic
HgeneBTNL8chr5:180326359chr16:89611056ENST00000231229+18239_25916.333333333333332348.0TransmembraneHelical
HgeneBTNL8chr5:180326359chr16:89611056ENST00000340184+18239_25916.333333333333332501.0TransmembraneHelical
HgeneBTNL8chr5:180326359chr16:89611056ENST00000400707+18239_2590376.0TransmembraneHelical
HgeneBTNL8chr5:180326359chr16:89611056ENST00000508408+17239_25916.333333333333332341.0TransmembraneHelical
HgeneBTNL8chr5:180326359chr16:89611056ENST00000511704+17239_25916.333333333333332385.0TransmembraneHelical
HgeneBTNL8chr5:180326359chr16:89611056ENST00000533815+17239_2590317.0TransmembraneHelical
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817349_357441.3333333333333796.0Nucleotide bindingATP
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817106_144441.3333333333333796.0Topological domainMitochondrial matrix
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817166_248441.3333333333333796.0Topological domainMitochondrial intermembrane
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817270_795441.3333333333333796.0Topological domainMitochondrial matrix
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817145_165441.3333333333333796.0TransmembraneHelical
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817249_269441.3333333333333796.0TransmembraneHelical


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Fusion Gene Sequence for BTNL8-SPG7


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.
>In-frame_ENST00000231229_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(transcript)=2020nt_BP=283nt
TAGACATTTATGCAGTGGTTCAAAGTCTAGAGTCCCTACACTTCTGGTACATGACAGCTGTGTCTCGATGGAGTAGACTCTCAGAACAGC
GCAGTTTGCCCTCCGCTCACGCAGAGCCTCTCCGTGGCTTCCGCACCTTGAGCATTAGGCCAGTTCTCCTCTTCTCTCTAATCCATCCGT
CACCTCTCCTGTCATCCGTTTCCATGCCGTGAGGTCCATTCACAGAACACATCCATGGCTCTCATGCTCAGTTTGGTTCTGAGTCTCCTC
AAGCTGGGATCAGGAATGGGTACCACAGACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGG
CCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCCACGCTGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAG
CTGACCCAGTCCAGCACCTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGGGCTGACATCGCCAACATCTGCAATGAG
GCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGGACTGCC
AAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCAC
ACGGAGGCCGTGATGAAGGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTC
ACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGGGCA
CAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCT
GAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGAAGCAAGACTGCTGGTG
GCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGCTGGCAAACGCCCTTCTGGAAAAGGAAGTG
ATAAACTATGAGGACATTGAGGCTCTCATTGGCCCGCCGCCCCATGGGCCGAAGAAAATGATCGCACCGCAGAGGTGGATCGACGCCCAG
AGGGAGAAACAGGACTTGGGCGAGGAGGAGACCGAAGAGACCCAGCAGCCTCCACTTGGAGGCGAAGAGCCGACTTGGCCCAAGTAGTTG
GGAGGTGTTGGCTGCACGTGCGGGTGGTCCGGGAAGTGAGGGCTCACTCAGCCACCCTGAGTTGCTTTTCAGCTGAGGTTTGCACTTCCT
CTCGCGGCCCTCAGTAGTCCCTGCACAGTGACTTCTGAGATCTGTTGATTGATGACCCTTTTCATGATTTTAAGTTTCTCTGCAGAAACT
ACTGACGGAGTCCTGTGTTTGTGAGTCGTTTCCCCTATGGGGAAGGTTATCAGTGCTTCCCGAGTGAGCATGGAACACTTCGAGTTCCCA
GGGTTATAGACAGTCGTTCCCAGTGTGGCTGAGGCCACCCAGAGGCAGCAGAGCATTCAGACTCCAAACAGACCCCTGTTCATGCCGACG
CTTGCACGACCGCCCCAGTTCCTGTGGCTCCCTCGGAATGCTAAGGGGATCGGACATGAAAGGACCCTGTGAGCCGATTGTCCTATCTCC
AGCGGCCCTGTCATCCAGCTCACTCATCAATGGGGCCAGTCAGGCCCAGGCACTGGGCTCCGGAGGACTCACCACTGCCCCCTGCTGCCA
TGTGGACTGGTGCAAGTTGAGGACTTCTTGCTGGTCTAGTCACGCATGCAGTGTTGGGGATGCCTTGGTTTTTACTGCTCTGAGAATTGT

>In-frame_ENST00000231229_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(amino acids)=380AA_start in transcript=1421_stop in transcript=279
MKSNSGWLSEPSLPGPPARAANTSQLLGPSRLFASKWRLLGLFGLLLAQVLFLPLGVDPPLRCDHFLRPMGRRANESLNVLIVYHFLFQK
GVCQRLQLVQVVLQHLLGVSVGLGHQQSCFMVHHLLQALAEGAPPDAHEALLRLREGDGPDARCHPKLLHHGVGDAGDLPQVVLCPRSDL
VEGQCFRGPSSQGHAHPLKQLLLGEEVLVSGEHLSKAQGGVCPRGYGDLHHGLRVLQHPAHQGVARLMKRNHFLFFLGQDLALFGSPCED
ALHGVLEVESVHGSVSLPRRVQRSLIADVGDVSPTESWCQLCQTLGVKGAGLGQLQALQVLLKNLPPLLQRGEINEDVPVQSAWPHQSTV

--------------------------------------------------------------
>In-frame_ENST00000340184_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(transcript)=1992nt_BP=255nt
AGAGTCCCTACACTTCTGGTACATGACAGCTGTGTCTCGATGGAGTAGACTCTCAGAACAGCGCAGTTTGCCCTCCGCTCACGCAGAGCC
TCTCCGTGGCTTCCGCACCTTGAGCATTAGGCCAGTTCTCCTCTTCTCTCTAATCCATCCGTCACCTCTCCTGTCATCCGTTTCCATGCC
GTGAGGTCCATTCACAGAACACATCCATGGCTCTCATGCTCAGTTTGGTTCTGAGTCTCCTCAAGCTGGGATCAGGAATGGGTACCACAG
ACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCA
TTGATCTCCCCACGCTGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCACCTTTTACTCCC
AGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGAC
ACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAG
AACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTCTCCATAA
CCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGT
GCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGGGCACAGGACGACCTGAGGAAGGTCACCCGCA
TCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCG
GGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGG
TGCTGCAGGACAACCTGGACAAGTTGCAGGCGCTGGCAAACGCCCTTCTGGAAAAGGAAGTGATAAACTATGAGGACATTGAGGCTCTCA
TTGGCCCGCCGCCCCATGGGCCGAAGAAAATGATCGCACCGCAGAGGTGGATCGACGCCCAGAGGGAGAAACAGGACTTGGGCGAGGAGG
AGACCGAAGAGACCCAGCAGCCTCCACTTGGAGGCGAAGAGCCGACTTGGCCCAAGTAGTTGGGAGGTGTTGGCTGCACGTGCGGGTGGT
CCGGGAAGTGAGGGCTCACTCAGCCACCCTGAGTTGCTTTTCAGCTGAGGTTTGCACTTCCTCTCGCGGCCCTCAGTAGTCCCTGCACAG
TGACTTCTGAGATCTGTTGATTGATGACCCTTTTCATGATTTTAAGTTTCTCTGCAGAAACTACTGACGGAGTCCTGTGTTTGTGAGTCG
TTTCCCCTATGGGGAAGGTTATCAGTGCTTCCCGAGTGAGCATGGAACACTTCGAGTTCCCAGGGTTATAGACAGTCGTTCCCAGTGTGG
CTGAGGCCACCCAGAGGCAGCAGAGCATTCAGACTCCAAACAGACCCCTGTTCATGCCGACGCTTGCACGACCGCCCCAGTTCCTGTGGC
TCCCTCGGAATGCTAAGGGGATCGGACATGAAAGGACCCTGTGAGCCGATTGTCCTATCTCCAGCGGCCCTGTCATCCAGCTCACTCATC
AATGGGGCCAGTCAGGCCCAGGCACTGGGCTCCGGAGGACTCACCACTGCCCCCTGCTGCCATGTGGACTGGTGCAAGTTGAGGACTTCT
TGCTGGTCTAGTCACGCATGCAGTGTTGGGGATGCCTTGGTTTTTACTGCTCTGAGAATTGTTGAGATACTTTACTAATAAACTGTGTAG

>In-frame_ENST00000340184_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(amino acids)=380AA_start in transcript=1393_stop in transcript=251
MKSNSGWLSEPSLPGPPARAANTSQLLGPSRLFASKWRLLGLFGLLLAQVLFLPLGVDPPLRCDHFLRPMGRRANESLNVLIVYHFLFQK
GVCQRLQLVQVVLQHLLGVSVGLGHQQSCFMVHHLLQALAEGAPPDAHEALLRLREGDGPDARCHPKLLHHGVGDAGDLPQVVLCPRSDL
VEGQCFRGPSSQGHAHPLKQLLLGEEVLVSGEHLSKAQGGVCPRGYGDLHHGLRVLQHPAHQGVARLMKRNHFLFFLGQDLALFGSPCED
ALHGVLEVESVHGSVSLPRRVQRSLIADVGDVSPTESWCQLCQTLGVKGAGLGQLQALQVLLKNLPPLLQRGEINEDVPVQSAWPHQSTV

--------------------------------------------------------------
>In-frame_ENST00000508408_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(transcript)=1823nt_BP=86nt
GTTTCCATGCCGTGAGGTCCATTCACAGAACACATCCATGGCTCTCATGCTCAGTTTGGTTCTGAGTCTCCTCAAGCTGGGATCAGGAAT
GGGTACCACAGACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCG
GCACGTCTTCATTGATCTCCCCACGCTGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCAC
CTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGC
GCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGGACTGCCAAAAAGAGCAAGATCCT
GTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAA
GGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTT
TGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGGGCACAGGACGACCTGAGGAA
GGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCT
CATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACA
CACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGCTGGCAAACGCCCTTCTGGAAAAGGAAGTGATAAACTATGAGGACAT
TGAGGCTCTCATTGGCCCGCCGCCCCATGGGCCGAAGAAAATGATCGCACCGCAGAGGTGGATCGACGCCCAGAGGGAGAAACAGGACTT
GGGCGAGGAGGAGACCGAAGAGACCCAGCAGCCTCCACTTGGAGGCGAAGAGCCGACTTGGCCCAAGTAGTTGGGAGGTGTTGGCTGCAC
GTGCGGGTGGTCCGGGAAGTGAGGGCTCACTCAGCCACCCTGAGTTGCTTTTCAGCTGAGGTTTGCACTTCCTCTCGCGGCCCTCAGTAG
TCCCTGCACAGTGACTTCTGAGATCTGTTGATTGATGACCCTTTTCATGATTTTAAGTTTCTCTGCAGAAACTACTGACGGAGTCCTGTG
TTTGTGAGTCGTTTCCCCTATGGGGAAGGTTATCAGTGCTTCCCGAGTGAGCATGGAACACTTCGAGTTCCCAGGGTTATAGACAGTCGT
TCCCAGTGTGGCTGAGGCCACCCAGAGGCAGCAGAGCATTCAGACTCCAAACAGACCCCTGTTCATGCCGACGCTTGCACGACCGCCCCA
GTTCCTGTGGCTCCCTCGGAATGCTAAGGGGATCGGACATGAAAGGACCCTGTGAGCCGATTGTCCTATCTCCAGCGGCCCTGTCATCCA
GCTCACTCATCAATGGGGCCAGTCAGGCCCAGGCACTGGGCTCCGGAGGACTCACCACTGCCCCCTGCTGCCATGTGGACTGGTGCAAGT
TGAGGACTTCTTGCTGGTCTAGTCACGCATGCAGTGTTGGGGATGCCTTGGTTTTTACTGCTCTGAGAATTGTTGAGATACTTTACTAAT

>In-frame_ENST00000508408_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(amino acids)=380AA_start in transcript=1224_stop in transcript=82
MKSNSGWLSEPSLPGPPARAANTSQLLGPSRLFASKWRLLGLFGLLLAQVLFLPLGVDPPLRCDHFLRPMGRRANESLNVLIVYHFLFQK
GVCQRLQLVQVVLQHLLGVSVGLGHQQSCFMVHHLLQALAEGAPPDAHEALLRLREGDGPDARCHPKLLHHGVGDAGDLPQVVLCPRSDL
VEGQCFRGPSSQGHAHPLKQLLLGEEVLVSGEHLSKAQGGVCPRGYGDLHHGLRVLQHPAHQGVARLMKRNHFLFFLGQDLALFGSPCED
ALHGVLEVESVHGSVSLPRRVQRSLIADVGDVSPTESWCQLCQTLGVKGAGLGQLQALQVLLKNLPPLLQRGEINEDVPVQSAWPHQSTV

--------------------------------------------------------------
>In-frame_ENST00000511704_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(transcript)=1823nt_BP=86nt
GTTTCCATGCCGTGAGGTCCATTCACAGAACACATCCATGGCTCTCATGCTCAGTTTGGTTCTGAGTCTCCTCAAGCTGGGATCAGGAAT
GGGTACCACAGACCATGTCATCGTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCG
GCACGTCTTCATTGATCTCCCCACGCTGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCAC
CTTTTACTCCCAGCGTCTGGCAGAGCTGACACCAGGATTCAGTGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGC
GCGGGAGGGACACACTTCCGTGCACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGGACTGCCAAAAAGAGCAAGATCCT
GTCCAAGGAAGAACAGAAAGTGGTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAA
GGTCTCCATAACCCCTCGGACAAACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTT
TGAGCGGATGTGCATGGCCCTGGGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGGGCACAGGACGACCTGAGGAA
GGTCACCCGCATCGCCTACTCCATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCT
CATGGGCATCGGGCGGCGCCCCTTCAGCCAAGGCCTGCAGCAGATGATGGACCATGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACA
CACCGAGAAGGTGCTGCAGGACAACCTGGACAAGTTGCAGGCGCTGGCAAACGCCCTTCTGGAAAAGGAAGTGATAAACTATGAGGACAT
TGAGGCTCTCATTGGCCCGCCGCCCCATGGGCCGAAGAAAATGATCGCACCGCAGAGGTGGATCGACGCCCAGAGGGAGAAACAGGACTT
GGGCGAGGAGGAGACCGAAGAGACCCAGCAGCCTCCACTTGGAGGCGAAGAGCCGACTTGGCCCAAGTAGTTGGGAGGTGTTGGCTGCAC
GTGCGGGTGGTCCGGGAAGTGAGGGCTCACTCAGCCACCCTGAGTTGCTTTTCAGCTGAGGTTTGCACTTCCTCTCGCGGCCCTCAGTAG
TCCCTGCACAGTGACTTCTGAGATCTGTTGATTGATGACCCTTTTCATGATTTTAAGTTTCTCTGCAGAAACTACTGACGGAGTCCTGTG
TTTGTGAGTCGTTTCCCCTATGGGGAAGGTTATCAGTGCTTCCCGAGTGAGCATGGAACACTTCGAGTTCCCAGGGTTATAGACAGTCGT
TCCCAGTGTGGCTGAGGCCACCCAGAGGCAGCAGAGCATTCAGACTCCAAACAGACCCCTGTTCATGCCGACGCTTGCACGACCGCCCCA
GTTCCTGTGGCTCCCTCGGAATGCTAAGGGGATCGGACATGAAAGGACCCTGTGAGCCGATTGTCCTATCTCCAGCGGCCCTGTCATCCA
GCTCACTCATCAATGGGGCCAGTCAGGCCCAGGCACTGGGCTCCGGAGGACTCACCACTGCCCCCTGCTGCCATGTGGACTGGTGCAAGT
TGAGGACTTCTTGCTGGTCTAGTCACGCATGCAGTGTTGGGGATGCCTTGGTTTTTACTGCTCTGAGAATTGTTGAGATACTTTACTAAT

>In-frame_ENST00000511704_ENST00000268704_ERR315409_BTNL8_chr5_180326359_+_SPG7_chr16_89611056_length(amino acids)=380AA_start in transcript=1224_stop in transcript=82
MKSNSGWLSEPSLPGPPARAANTSQLLGPSRLFASKWRLLGLFGLLLAQVLFLPLGVDPPLRCDHFLRPMGRRANESLNVLIVYHFLFQK
GVCQRLQLVQVVLQHLLGVSVGLGHQQSCFMVHHLLQALAEGAPPDAHEALLRLREGDGPDARCHPKLLHHGVGDAGDLPQVVLCPRSDL
VEGQCFRGPSSQGHAHPLKQLLLGEEVLVSGEHLSKAQGGVCPRGYGDLHHGLRVLQHPAHQGVARLMKRNHFLFFLGQDLALFGSPCED
ALHGVLEVESVHGSVSLPRRVQRSLIADVGDVSPTESWCQLCQTLGVKGAGLGQLQALQVLLKNLPPLLQRGEINEDVPVQSAWPHQSTV

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

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Fusion Gene PPI Analysis for BTNL8-SPG7


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
TgeneSPG7chr5:180326359chr16:89611056ENST00000268704817701_795441.3333333333333796.0PPIF
TgeneSPG7chr5:180326359chr16:89611056ENST00000341316010701_7950490.0PPIF


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 BTNL8-SPG7


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 BTNL8-SPG7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSPG7C1846564SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSPG7C0030486Paraplegia1CTD_human
TgeneSPG7C0037772Spastic Paraplegia1CTD_human
TgeneSPG7C0154682Lateral Sclerosis1ORPHANET
TgeneSPG7C0242036Paraplegia, Ataxic1CTD_human
TgeneSPG7C0278114Paraplegia, Cerebral1CTD_human
TgeneSPG7C0278115Paraplegia, Spinal1CTD_human
TgeneSPG7C0452143Paraplegia, Flaccid1CTD_human
TgeneSPG7C1968845Primary Lateral Sclerosis, Adult, 11ORPHANET
TgeneSPG7C3711370Spastic Paraplegia Type 71ORPHANET