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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:ABCA12-SGPP2 (FusionGDB2 ID:HG26154TG130367)

Fusion Gene Summary for ABCA12-SGPP2

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCA12-SGPP2
Fusion gene ID: hg26154tg130367
HgeneTgene
Gene symbol

ABCA12

SGPP2

Gene ID

26154

130367

Gene nameATP binding cassette subfamily A member 12sphingosine-1-phosphate phosphatase 2
SynonymsARCI4A|ARCI4B|ICR2B|LI2SPP2|SPPase2
Cytomap('ABCA12')('SGPP2')

2q35

2q36.1

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family A member 12ATP-binding cassette transporter 12ATP-binding cassette, sub-family A (ABC1), member 12sphingosine-1-phosphate phosphatase 2sphingosine 1-phosphate phosphohydrolase 2sphingosine-1-phosphatase 2sphingosine-1-phosphate phosphotase 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000272895, ENST00000389661, 
ENST00000412081, 		ENST00000412081, 
ENST00000272895, ENST00000389661, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 4 X 6=144
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCA12 [Title/Abstract] AND SGPP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCA12(215890397)-SGPP2(223339287), # samples:3
Anticipated loss of major functional domain due to fusion event.ABCA12-SGPP2 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.
ABCA12-SGPP2 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.
ABCA12-SGPP2 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.
ABCA12-SGPP2 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.
SGPP2-ABCA12 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SGPP2-ABCA12 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SGPP2-ABCA12 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
SGPP2-ABCA12 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneABCA12

GO:0006869

lipid transport

16007253

HgeneABCA12

GO:0010875

positive regulation of cholesterol efflux

23931754

HgeneABCA12

GO:0072659

protein localization to plasma membrane

23931754

TgeneSGPP2

GO:0006670

sphingosine metabolic process

12411432


check buttonFusion gene breakpoints across ABCA12 (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 SGPP2 (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-VR-A8EU-01AABCA12chr2

215890397

-SGPP2chr2

223339287

+
ChimerDB4ESCATCGA-VR-A8EUABCA12chr2

215890397

-SGPP2chr2

223339287

+


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Fusion Gene ORF analysis for ABCA12-SGPP2

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-frameENST00000272895ENST00000321276ABCA12chr2

215890397

-SGPP2chr2

223339287

+
In-frameENST00000389661ENST00000321276ABCA12chr2

215890397

-SGPP2chr2

223339287

+
intron-3CDSENST00000412081ENST00000321276ABCA12chr2

215890397

-SGPP2chr2

223339287

+

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)
ENST00000272895ABCA12chr2215890397-ENST00000321276SGPP2chr2223339287+453815072202487755
ENST00000389661ABCA12chr2215890397-ENST00000321276SGPP2chr2223339287+35234921591472437

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
ENST00000272895ENST00000321276ABCA12chr2215890397-SGPP2chr2223339287+0.0016428290.9983571
ENST00000389661ENST00000321276ABCA12chr2215890397-SGPP2chr2223339287+0.0006052260.9993948

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Fusion Genomic Features for ABCA12-SGPP2


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)
ABCA12chr2215890396-SGPP2chr2223339286+0.0003739020.99962604
ABCA12chr2215890396-SGPP2chr2223339286+0.0003739020.99962604
ABCA12chr2215890396-SGPP2chr2223339286+0.0003739020.99962604
ABCA12chr2215890396-SGPP2chr2223339286+0.0003739020.99962604

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 ABCA12-SGPP2


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/chr2:215890397/chr2:223339287)
- 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
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-115323_434292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-34523_431112278.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605136_14473400.0RegionPhosphatase sequence motif I
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605163_16673400.0RegionPhosphatase sequence motif II
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605206_21773400.0RegionPhosphatase sequence motif III
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605121_14173400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605160_18073400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605185_20573400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605219_23973400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605247_26773400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605280_30073400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605318_33873400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST0000032127605371_39173400.0TransmembraneHelical
TgeneSGPP2chr2:215890397chr2:223339287ENST000003212760588_10873400.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531346_15774292596.0DomainABC transporter 1
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532254_24894292596.0DomainABC transporter 2
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451346_15771112278.0DomainABC transporter 1
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452254_24891112278.0DomainABC transporter 2
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531378_13854292596.0Nucleotide bindingATP 1
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532290_22974292596.0Nucleotide bindingATP 2
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451378_13851112278.0Nucleotide bindingATP 1
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452290_22971112278.0Nucleotide bindingATP 2
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531065_10854292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531112_11324292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531145_11654292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531174_11944292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531200_12204292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531250_12704292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531747_17674292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11531979_19994292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532035_20554292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532072_20924292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532103_21234292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532187_22074292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000272895-11532270_22904292596.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451065_10851112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451112_11321112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451145_11651112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451174_11941112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451200_12201112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451250_12701112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451747_17671112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3451979_19991112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452035_20551112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452072_20921112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452103_21231112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452187_22071112278.0TransmembraneHelical
HgeneABCA12chr2:215890397chr2:223339287ENST00000389661-3452270_22901112278.0TransmembraneHelical


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Fusion Gene Sequence for ABCA12-SGPP2


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.
>151_151_1_ABCA12-SGPP2_ABCA12_chr2_215890397_ENST00000272895_SGPP2_chr2_223339287_ENST00000321276_length(transcript)=4538nt_BP=1507nt
GAAGAGTTGATTGAGAAGTGCCTCTTGGTTAAGGATTAACCACAGGGAAAAATCCAGCAGAAACAGAAGAACTGTGGGTTTCTTACCCCA
GCCCTCAAGGAAGCTATGCCGTGAAAGGGGTACTGATACACTGACATACAGCAAGTTGGACGGGGCATCAGTTCTTCATTTGTGGAGTGG
AGAAAAGAAGAGGAAATCTCTCATTTGGGGCATTTGAAGGATGGCTTCCCTGTTTCATCAGCTTCAGATCCTGGTCTGGAAAAATTGGCT
AGGTGTAAAAAGGCAGCCGCTTTGGACACTTGTCTTGATCTTATGGCCAGTCATTATTTTCATAATTTTGGCTATTACTCGGACCAAATT
TCCTCCAACTGCAAAACCAACTTGTTACCTCGCACCTCGAAACCTTCCTAGTACTGGATTCTTTCCATTCCTGCAGACCCTACTCTGTGA
CACAGACTCTAAATGCAAAGACACACCCTATGGCCCACAAGATCTGCTTCGTAGGAAAGGAATTGATGATGCACTATTTAAAGACAGTGA
GATTCTGAGAAAGTCATCCAACCTGGATAAGGACAGCAGTTTATCATTCCAGAGCACCCAAGTTCCAGAAAGAAGGCATGCATCACTAGC
CACAGTATTTCCCAGTCCAAGTTCTGATTTGGAAATCCCCGGAACATATACTTTCAATGGCAGTCAAGTGCTCGCACGAATTCTTGGCTT
GGAAAAGCTGTTAAAGCAAAATTCAACTTCAGAAGATATACGAAGAGAACTATGTGACAGCTATTCAGGATACATTGTGGATGATGCCTT
CTCTTGGACCTTTCTAGGAAGAAATGTTTTTAACAAATTTTGCCTTTCTAACATGACCCTTTTAGAGTCTTCTCTCCAAGAACTAAACAA
ACAGTTCTCCCAGCTATCCAGTGACCCCAACAATCAGAAGATAGTGTTTCAGGAAATAGTCAGAATGCTGTCTTTCTTCTCACAAGTGCA
AGAGCAGAAAGCTGTGTGGCAGCTTCTGTCTAGTTTTCCAAATGTGTTTCAGAATGACACATCACTAAGCAATCTATTTGATGTTCTTCG
AAAGGCAAACAGTGTGCTGCTGGTTGTGCAGAAGGTTTATCCACGTTTTGCAACTAACGAAGGTTTCAGAACCCTCCAGAAGTCTGTTAA
ACATCTGCTGTACACTCTGGACTCCCCAGCTCAAGGTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATC
TCCAAGCAGTCTGGCTGCACAGCTCCTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTA
CTTGGCATGTGTGAGAAATGTGACTGACAGTTTGGCCAGAGGTTCACCAGAAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAA
ATCTTTTCTTCGCAATGGTTCCTATGAAGATTACTTTCCTCCAGTTCCTGAAGTCCTAAAATCAAAAGCTTATGTACAGAAGTACGTCGT
GAAGAATTATTTCTACTATTACCTATTCCAATTTTCAGCTGCTTTGGGCCAAGAAGTGTTCTACATCACGTTTCTTCCATTCACTCACTG
GAATATTGACCCTTATTTATCCAGAAGATTGATCATCATATGGGTTTTGGTGATGTATATTGGCCAAGTGGCCAAGGATGTCTTGAAGTG
GCCCCGTCCCTCCTCCCCTCCAGTTGTAAAACTGGAAAAGAGACTGATCGCTGAATATGGAATGCCATCCACCCACGCCATGGCGGCCAC
TGCCATTGCCTTCACCCTCCTTATCTCTACTATGGACAGATACCAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCAC
CTTGGTGTGTCTCAGCAGGCTCTACACTGGGATGCATACGGTCCTGGATGTGCTGGGTGGCGTCCTGATCACCGCACTCCTCATCGTCCT
CACCTACCCTGCCTGGACCTTCATCGACTGCCTGGACTCGGCCAGCCCCCTCTTCCCCGTGTGTGTCATAGTTGTGCCATTCTTCCTGTG
TTACAATTACCCTGTTTCTGATTACTACAGCCCAACCCGGGCGGACACCACCACCATTCTGGCTGCCGGGGCTGGAGTGACCATAGGATT
CTGGATCAACCATTTCTTCCAGCTTGTATCCAAGCCCGCTGAATCTCTCCCTGTTATTCAGAACATCCCACCACTCACCACCTACATGTT
AGTTTTGGGTCTGACCAAATTTGCAGTGGGAATTGTGTTGATCCTCTTGGTTCGTCAGCTTGTACAAAATCTCTCACTGCAAGTATTATA
CTCATGGTTCAAGGTGGTCACCAGGAACAAGGAGGCCAGGCGGAGACTGGAGATTGAAGTGCCTTACAAGTTTGTTACCTACACATCTGT
TGGCATCTGCGCTACAACCTTTGTGCCGATGCTTCACAGGTTTCTGGGATTACCCTGAGTCTCAAACAGTTGGAAACTAGCCCACTGGAC
ATGAAAGCCAAGACATAGGAAAGTTATTGGTAGGCAAATCTTGACAACTTATTTTTCTTTAACAACAACAAAAAGTCATACGGCTGTCTT
GCTACTACCAGATAAATGATGCTGCTGTGTGAAAGGAAGAACTGTCTCATAGCGGTCATTGGTCGTCCGTGGTGGTTGGTTGTGCTACAG
TTGAACCCAGGCTAAAGACCATAATCCGGATCTTTAAAGGCACACACCGCGCCCCCCCCCCCCCCGCCCGGCCCCTGCTCCTCTCGCTGT
TGCACGGGCTTTGGATCTAGTCATGGGCTGGCAGGAATTGTGGCCTGGCTTAGGAATAGCTATGAGCCCCACTGGGTTCTGGAGAGCCAG
TAGAGATGGGGTGATCTGGGAGGCTGGAGGTAGAGCCTTTCTTTTCCGTTACAACCTTGCCTAGCATGGAGTTATTTCTAAAATGGGAAC
TTTGGTCTAGGAGAAGGGGTGGCACCATATGAAACGGCATTCCTTGGACAGGGTGACTTCCTTATCGTTTATTTGGTGATTTTTTGTTTT
GTTTTGTTTGAGACAGGATCTTGCTCTGTTTCCCAGGCTGTATTACAGTGGCACAATCTCAGCTCACTGCAAACTCTGCCTCCCGGGCTC
AAGCAATCCTCCTGCCTGAGCCAACTGAGTAGCTGGGACTGTAAGCATAGACCACCATGTGCCCAGCTAATTTTTGTAGAGACAGGGTTT
CTCCATGTTGCCCAGGTACGTCTGAAACTCCTGGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGC
CACTGTGCCCGGCCTCCTCCTTGTTATGATCAAATTAGACTGTGCCTGGTTGGGTGGTAAGATCACTCTGAAAGAAAGCTCACTGTGAAG
AGATGAAAGGTGGAGGCAGAGCTGTGAGGTCATGGGGAAAAGCCTGCTTTCCTTATAAGTCCTGCTGTTCATGTTGGAATAAGGATCTGC
TCTTCCTTGTTTCCATGCATTTTGCAGGATTCCAGGTACCATTACCACACTCTTCTGACCCATGAAACCAACTGGCTGCTCACACATCAC
CAAACAGGTTGGGGGTTAGCCTTCAGCACAGGTGGATACATCTGGGATTCACTGAGATTCCTGCCCTCTCCTGCTTCCTAGTGGTTTGGG
ACAGGCCCTCTGCCCATCGTCAGCAGTTTTTTGCTTTCATACAAACCTGGAAGGCACTGGCATCTGCCTAGGAAAGTGGATCTGTGAAGA
ACAGATGAACTCAATCCTTTCTGGAGTCTGACAAAGAAGGGATAGGCTTCCTTGACATTGCCTGTCCTGACAAGGCCTCCCTGACATTAC
TCCTCCAATTTCACAGTTACCTTCTGTAAATCTATTTTCTCATCTACTGAATAGAATCAGGCGCCCTTTTTGTCTTCCCACCTCTTATCT
CTTGGCAATTTTAAGGGGAATTAATGCAAGAACAACTTTAGTGTCTCTTGGGAAAACAAGCCAACCAAATACAAAACCCATTAAGCCTAC
TAGGGTGAGTCCTCTTAACATGGGAAGGCGATGATTATGCAAACACCGGAGTTCCCTCCTCTTCAGTTCCTAAGAATAAAGAACAGGTAT
CAAGAACTTTCTTTAAAGTTAGTGTAACTATAGTTAACAAAGTATCCATTGAAGTTTAGTGCCTGTAGGACTGAGCCAGTGCTTTATCAA
CCCAACACATCATCACCATGTGCATACTCTAGAAAAAAAAATAGCTTCCTTAAAAGTTACAGAGGCTCTTAACGTGTTAAAACCGAAAAA
TCACATTTTTCTTGATTTCAAATATGTTCTACGGCCTTACTGTTGGGATGATATTTAGTATGTAACTTAGCATTCCAATTTCTCAAGAAT
TTTTAGGCCGGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGACCACGAGGTCAGGAGATCGAGACCA

>151_151_1_ABCA12-SGPP2_ABCA12_chr2_215890397_ENST00000272895_SGPP2_chr2_223339287_ENST00000321276_length(amino acids)=755AA_BP=429
MASLFHQLQILVWKNWLGVKRQPLWTLVLILWPVIIFIILAITRTKFPPTAKPTCYLAPRNLPSTGFFPFLQTLLCDTDSKCKDTPYGPQ
DLLRRKGIDDALFKDSEILRKSSNLDKDSSLSFQSTQVPERRHASLATVFPSPSSDLEIPGTYTFNGSQVLARILGLEKLLKQNSTSEDI
RRELCDSYSGYIVDDAFSWTFLGRNVFNKFCLSNMTLLESSLQELNKQFSQLSSDPNNQKIVFQEIVRMLSFFSQVQEQKAVWQLLSSFP
NVFQNDTSLSNLFDVLRKANSVLLVVQKVYPRFATNEGFRTLQKSVKHLLYTLDSPAQGDSDNITHVWNEDDGQTLSPSSLAAQLLILEN
FEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKSFLRNGSYEDYFPPVPEVLKSKAYVQKYVVKNYFYYYLFQFSA
ALGQEVFYITFLPFTHWNIDPYLSRRLIIIWVLVMYIGQVAKDVLKWPRPSSPPVVKLEKRLIAEYGMPSTHAMAATAIAFTLLISTMDR
YQYPFVLGLVMAVVFSTLVCLSRLYTGMHTVLDVLGGVLITALLIVLTYPAWTFIDCLDSASPLFPVCVIVVPFFLCYNYPVSDYYSPTR
ADTTTILAAGAGVTIGFWINHFFQLVSKPAESLPVIQNIPPLTTYMLVLGLTKFAVGIVLILLVRQLVQNLSLQVLYSWFKVVTRNKEAR

--------------------------------------------------------------
>151_151_2_ABCA12-SGPP2_ABCA12_chr2_215890397_ENST00000389661_SGPP2_chr2_223339287_ENST00000321276_length(transcript)=3523nt_BP=492nt
ATTTCCTATAAATATCACAAATATTTCCAACAAAAGAGCATAGATGTCTTTTATACAATTCTTTTGAGAATGATTCTGCAGATTTCTGCA
TTTTCTCCTCATTAATTTGACCTGGGATGGTTTTCACTGAGGAAAAAAATCTTTAAGCAAACATGTTAAATGTTTACCTATATAAAAATT
ATTACTTCAGGTGACTCCGATAATATAACGCATGTGTGGAATGAGGATGATGGACAGACCTTATCTCCAAGCAGTCTGGCTGCACAGCTC
CTAATTCTGGAAAACTTTGAAGATGCCCTCTTAAATATATCAGCAAATAGTCCTTATATTCCTTACTTGGCATGTGTGAGAAATGTGACT
GACAGTTTGGCCAGAGGTTCACCAGAAAATCTAAGACTCCTGCAGTCCACAATACGATTTAAAAAATCTTTTCTTCGCAATGGTTCCTAT
GAAGATTACTTTCCTCCAGTTCCTGAAGTCCTAAAATCAAAAGCTTATGTACAGAAGTACGTCGTGAAGAATTATTTCTACTATTACCTA
TTCCAATTTTCAGCTGCTTTGGGCCAAGAAGTGTTCTACATCACGTTTCTTCCATTCACTCACTGGAATATTGACCCTTATTTATCCAGA
AGATTGATCATCATATGGGTTTTGGTGATGTATATTGGCCAAGTGGCCAAGGATGTCTTGAAGTGGCCCCGTCCCTCCTCCCCTCCAGTT
GTAAAACTGGAAAAGAGACTGATCGCTGAATATGGAATGCCATCCACCCACGCCATGGCGGCCACTGCCATTGCCTTCACCCTCCTTATC
TCTACTATGGACAGATACCAGTATCCATTTGTGTTGGGACTGGTGATGGCCGTGGTGTTTTCCACCTTGGTGTGTCTCAGCAGGCTCTAC
ACTGGGATGCATACGGTCCTGGATGTGCTGGGTGGCGTCCTGATCACCGCACTCCTCATCGTCCTCACCTACCCTGCCTGGACCTTCATC
GACTGCCTGGACTCGGCCAGCCCCCTCTTCCCCGTGTGTGTCATAGTTGTGCCATTCTTCCTGTGTTACAATTACCCTGTTTCTGATTAC
TACAGCCCAACCCGGGCGGACACCACCACCATTCTGGCTGCCGGGGCTGGAGTGACCATAGGATTCTGGATCAACCATTTCTTCCAGCTT
GTATCCAAGCCCGCTGAATCTCTCCCTGTTATTCAGAACATCCCACCACTCACCACCTACATGTTAGTTTTGGGTCTGACCAAATTTGCA
GTGGGAATTGTGTTGATCCTCTTGGTTCGTCAGCTTGTACAAAATCTCTCACTGCAAGTATTATACTCATGGTTCAAGGTGGTCACCAGG
AACAAGGAGGCCAGGCGGAGACTGGAGATTGAAGTGCCTTACAAGTTTGTTACCTACACATCTGTTGGCATCTGCGCTACAACCTTTGTG
CCGATGCTTCACAGGTTTCTGGGATTACCCTGAGTCTCAAACAGTTGGAAACTAGCCCACTGGACATGAAAGCCAAGACATAGGAAAGTT
ATTGGTAGGCAAATCTTGACAACTTATTTTTCTTTAACAACAACAAAAAGTCATACGGCTGTCTTGCTACTACCAGATAAATGATGCTGC
TGTGTGAAAGGAAGAACTGTCTCATAGCGGTCATTGGTCGTCCGTGGTGGTTGGTTGTGCTACAGTTGAACCCAGGCTAAAGACCATAAT
CCGGATCTTTAAAGGCACACACCGCGCCCCCCCCCCCCCCGCCCGGCCCCTGCTCCTCTCGCTGTTGCACGGGCTTTGGATCTAGTCATG
GGCTGGCAGGAATTGTGGCCTGGCTTAGGAATAGCTATGAGCCCCACTGGGTTCTGGAGAGCCAGTAGAGATGGGGTGATCTGGGAGGCT
GGAGGTAGAGCCTTTCTTTTCCGTTACAACCTTGCCTAGCATGGAGTTATTTCTAAAATGGGAACTTTGGTCTAGGAGAAGGGGTGGCAC
CATATGAAACGGCATTCCTTGGACAGGGTGACTTCCTTATCGTTTATTTGGTGATTTTTTGTTTTGTTTTGTTTGAGACAGGATCTTGCT
CTGTTTCCCAGGCTGTATTACAGTGGCACAATCTCAGCTCACTGCAAACTCTGCCTCCCGGGCTCAAGCAATCCTCCTGCCTGAGCCAAC
TGAGTAGCTGGGACTGTAAGCATAGACCACCATGTGCCCAGCTAATTTTTGTAGAGACAGGGTTTCTCCATGTTGCCCAGGTACGTCTGA
AACTCCTGGGCTTAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTCCTCCTTGTT
ATGATCAAATTAGACTGTGCCTGGTTGGGTGGTAAGATCACTCTGAAAGAAAGCTCACTGTGAAGAGATGAAAGGTGGAGGCAGAGCTGT
GAGGTCATGGGGAAAAGCCTGCTTTCCTTATAAGTCCTGCTGTTCATGTTGGAATAAGGATCTGCTCTTCCTTGTTTCCATGCATTTTGC
AGGATTCCAGGTACCATTACCACACTCTTCTGACCCATGAAACCAACTGGCTGCTCACACATCACCAAACAGGTTGGGGGTTAGCCTTCA
GCACAGGTGGATACATCTGGGATTCACTGAGATTCCTGCCCTCTCCTGCTTCCTAGTGGTTTGGGACAGGCCCTCTGCCCATCGTCAGCA
GTTTTTTGCTTTCATACAAACCTGGAAGGCACTGGCATCTGCCTAGGAAAGTGGATCTGTGAAGAACAGATGAACTCAATCCTTTCTGGA
GTCTGACAAAGAAGGGATAGGCTTCCTTGACATTGCCTGTCCTGACAAGGCCTCCCTGACATTACTCCTCCAATTTCACAGTTACCTTCT
GTAAATCTATTTTCTCATCTACTGAATAGAATCAGGCGCCCTTTTTGTCTTCCCACCTCTTATCTCTTGGCAATTTTAAGGGGAATTAAT
GCAAGAACAACTTTAGTGTCTCTTGGGAAAACAAGCCAACCAAATACAAAACCCATTAAGCCTACTAGGGTGAGTCCTCTTAACATGGGA
AGGCGATGATTATGCAAACACCGGAGTTCCCTCCTCTTCAGTTCCTAAGAATAAAGAACAGGTATCAAGAACTTTCTTTAAAGTTAGTGT
AACTATAGTTAACAAAGTATCCATTGAAGTTTAGTGCCTGTAGGACTGAGCCAGTGCTTTATCAACCCAACACATCATCACCATGTGCAT
ACTCTAGAAAAAAAAATAGCTTCCTTAAAAGTTACAGAGGCTCTTAACGTGTTAAAACCGAAAAATCACATTTTTCTTGATTTCAAATAT
GTTCTACGGCCTTACTGTTGGGATGATATTTAGTATGTAACTTAGCATTCCAATTTCTCAAGAATTTTTAGGCCGGGTGCGGTGGCTCAT
GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGACCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTACCCCGTCT

>151_151_2_ABCA12-SGPP2_ABCA12_chr2_215890397_ENST00000389661_SGPP2_chr2_223339287_ENST00000321276_length(amino acids)=437AA_BP=111
MFTYIKIITSGDSDNITHVWNEDDGQTLSPSSLAAQLLILENFEDALLNISANSPYIPYLACVRNVTDSLARGSPENLRLLQSTIRFKKS
FLRNGSYEDYFPPVPEVLKSKAYVQKYVVKNYFYYYLFQFSAALGQEVFYITFLPFTHWNIDPYLSRRLIIIWVLVMYIGQVAKDVLKWP
RPSSPPVVKLEKRLIAEYGMPSTHAMAATAIAFTLLISTMDRYQYPFVLGLVMAVVFSTLVCLSRLYTGMHTVLDVLGGVLITALLIVLT
YPAWTFIDCLDSASPLFPVCVIVVPFFLCYNYPVSDYYSPTRADTTTILAAGAGVTIGFWINHFFQLVSKPAESLPVIQNIPPLTTYMLV

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Fusion Gene PPI Analysis for ABCA12-SGPP2


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 ABCA12-SGPP2


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 ABCA12-SGPP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCA12C0079154Congenital Nonbullous Ichthyosiform Erythroderma5CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneABCA12C1832550Lamellar ichthyosis, type 25CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneABCA12C0598226Harlequin type ichthyosis3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneABCA12C0239849Harlequin Fetus2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneABCA12C0009402Colorectal Carcinoma1CTD_human
HgeneABCA12C0009404Colorectal Neoplasms1CTD_human
HgeneABCA12C0020758Congenital ichthyosis1CTD_human
HgeneABCA12C3536797Ichthyosis Congenita II1CTD_human
HgeneABCA12C3543867Collodion Fetus1CTD_human
HgeneABCA12C4551630Ichthyosis Congenita I1CTD_human