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in Kim Lab

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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:CIT-SPPL3 (FusionGDB2 ID:HG11113TG121665)

Fusion Gene Summary for CIT-SPPL3

check button Fusion gene summary
Fusion gene informationFusion gene name: CIT-SPPL3
Fusion gene ID: hg11113tg121665
HgeneTgene
Gene symbol

CIT

SPPL3

Gene ID

11113

121665

Gene namecitron rho-interacting serine/threonine kinasesignal peptide peptidase like 3
SynonymsCITK|CRIK|MCPH17|STK21IMP2|MDHV1887|PRO4332|PSH1|PSL4
Cytomap('CIT')('SPPL3')

12q24.23

12q24.31

Type of geneprotein-codingprotein-coding
Descriptioncitron Rho-interacting kinasecitron (rho-interacting, serine/threonine kinase 21)serine/threonine kinase 21serine/threonine-protein kinase 21signal peptide peptidase-like 3SPP-like 3intramembrane protease 2presenilin homologous protein 1presenilin-like protein 4
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000537607, ENST00000261833, 
ENST00000392521, 
Fusion gene scores* DoF score9 X 9 X 6=48611 X 9 X 5=495
# samples 911
** MAII scorelog2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CIT [Title/Abstract] AND SPPL3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCIT(120189855)-SPPL3(121204175), # samples:1
Anticipated loss of major functional domain due to fusion event.CIT-SPPL3 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.
CIT-SPPL3 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.
CIT-SPPL3 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.
CIT-SPPL3 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
TgeneSPPL3

GO:0033619

membrane protein proteolysis

2313285


check buttonFusion gene breakpoints across CIT (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 SPPL3 (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
ChimerDB4UCECTCGA-E6-A8L9-01ACITchr12

120189855

-SPPL3chr12

121204175

-


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Fusion Gene ORF analysis for CIT-SPPL3

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
5UTR-3CDSENST00000537607ENST00000353487CITchr12

120189855

-SPPL3chr12

121204175

-
In-frameENST00000261833ENST00000353487CITchr12

120189855

-SPPL3chr12

121204175

-
In-frameENST00000392521ENST00000353487CITchr12

120189855

-SPPL3chr12

121204175

-

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)
ENST00000392521CITchr12120189855-ENST00000353487SPPL3chr12121204175-563129602630671013
ENST00000261833CITchr12120189855-ENST00000353487SPPL3chr12121204175-55022831232938971

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
ENST00000392521ENST00000353487CITchr12120189855-SPPL3chr12121204175-0.0014919220.99850804
ENST00000261833ENST00000353487CITchr12120189855-SPPL3chr12121204175-0.0021845870.9978154

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Fusion Genomic Features for CIT-SPPL3


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 CIT-SPPL3


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/chr12:120189855/chr12:121204175)
- 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
HgeneCITchr12:120189855chr12:121204175ENST00000261833-2247361_4319262028.0DomainAGC-kinase C-terminal
HgeneCITchr12:120189855chr12:121204175ENST00000261833-224797_3609262028.0DomainProtein kinase
HgeneCITchr12:120189855chr12:121204175ENST00000392521-2348361_4319682070.0DomainAGC-kinase C-terminal
HgeneCITchr12:120189855chr12:121204175ENST00000392521-234897_3609682070.0DomainProtein kinase
HgeneCITchr12:120189855chr12:121204175ENST00000261833-2247103_1119262028.0Nucleotide bindingATP
HgeneCITchr12:120189855chr12:121204175ENST00000392521-2348103_1119682070.0Nucleotide bindingATP
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811374_379324385.0Compositional biasNote=Poly-Ser
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811341_343324385.0MotifNote=PAL
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811333_339324385.0Topological domainLumenal
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811361_384324385.0Topological domainCytoplasmic
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811340_360324385.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCITchr12:120189855chr12:121204175ENST00000261833-2247453_12979262028.0Coiled coilOntology_term=ECO:0000255
HgeneCITchr12:120189855chr12:121204175ENST00000392521-2348453_12979682070.0Coiled coilOntology_term=ECO:0000255
HgeneCITchr12:120189855chr12:121204175ENST00000261833-22471443_15639262028.0DomainPH
HgeneCITchr12:120189855chr12:121204175ENST00000261833-22471591_18819262028.0DomainCNH
HgeneCITchr12:120189855chr12:121204175ENST00000392521-23481443_15639682070.0DomainPH
HgeneCITchr12:120189855chr12:121204175ENST00000392521-23481591_18819682070.0DomainCNH
HgeneCITchr12:120189855chr12:121204175ENST00000261833-22471953_19589262028.0MotifSH3-binding
HgeneCITchr12:120189855chr12:121204175ENST00000392521-23481953_19589682070.0MotifSH3-binding
HgeneCITchr12:120189855chr12:121204175ENST00000261833-22471362_14119262028.0Zinc fingerPhorbol-ester/DAG-type
HgeneCITchr12:120189855chr12:121204175ENST00000392521-23481362_14119682070.0Zinc fingerPhorbol-ester/DAG-type
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811119_136324385.0Topological domainCytoplasmic
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811160_164324385.0Topological domainLumenal
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811186_190324385.0Topological domainCytoplasmic
TgeneSPPL3chr12:120189855chr12:121204175ENST000003534878111_8324385.0Topological domainLumenal
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811212_262324385.0Topological domainLumenal
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811284_311324385.0Topological domainCytoplasmic
TgeneSPPL3chr12:120189855chr12:121204175ENST0000035348781130_74324385.0Topological domainCytoplasmic
TgeneSPPL3chr12:120189855chr12:121204175ENST0000035348781196_97324385.0Topological domainLumenal
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811137_159324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811165_185324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811191_211324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811263_283324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST00000353487811312_332324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST0000035348781175_95324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST0000035348781198_118324385.0TransmembraneHelical
TgeneSPPL3chr12:120189855chr12:121204175ENST000003534878119_29324385.0TransmembraneHelical


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Fusion Gene Sequence for CIT-SPPL3


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.
>16873_16873_1_CIT-SPPL3_CIT_chr12_120189855_ENST00000261833_SPPL3_chr12_121204175_ENST00000353487_length(transcript)=5502nt_BP=2831nt
GCGGGGCGGAACAGATCGCAGACCTGGGGGTTCGCAGAGCCGCCAGTGGGGAGATGTTGAAGTTCAAATATGGAGCGCGGAATCCTTTGG
ATGCTGGTGCTGCTGAACCCATTGCCAGCCGGGCCTCCAGGCTGAATCTGTTCTTCCAGGGGAAACCACCCTTTATGACTCAACAGCAGA
TGTCTCCTCTTTCCCGAGAAGGGATATTAGATGCCCTCTTTGTTCTCTTTGAAGAATGCAGTCAGCCTGCTCTGATGAAGATTAAGCACG
TGAGCAACTTTGTCCGGAAGTATTCCGACACCATAGCTGAGTTACAGGAGCTCCAGCCTTCGGCAAAGGACTTCGAAGTCAGAAGTCTTG
TAGGTTGTGGTCACTTTGCTGAAGTGCAGGTGGTAAGAGAGAAAGCAACCGGGGACATCTATGCTATGAAAGTGATGAAGAAGAAGGCTT
TATTGGCCCAGGAGCAGGTTTCATTTTTTGAGGAAGAGCGGAACATATTATCTCGAAGCACAAGCCCGTGGATCCCCCAATTACAGTATG
CCTTTCAGGACAAAAATCACCTTTATCTGGTCATGGAATATCAGCCTGGAGGGGACTTGCTGTCACTTTTGAATAGATATGAGGACCAGT
TAGATGAAAACCTGATACAGTTTTACCTAGCTGAGCTGATTTTGGCTGTTCACAGCGTTCATCTGATGGGATACGTGCATCGAGACATCA
AGCCTGAGAACATTCTCGTTGACCGCACAGGACACATCAAGCTGGTGGATTTTGGATCTGCCGCGAAAATGAATTCAAACAAGATGGTGA
ATGCCAAACTCCCGATTGGGACCCCAGATTACATGGCTCCTGAAGTGCTGACTGTGATGAACGGGGATGGAAAAGGCACCTACGGCCTGG
ACTGTGACTGGTGGTCAGTGGGCGTGATTGCCTATGAGATGATTTATGGGAGATCCCCCTTCGCAGAGGGAACCTCTGCCAGAACCTTCA
ATAACATTATGAATTTCCAGCGGTTTTTGAAATTTCCAGATGACCCCAAAGTGAGCAGTGACTTTCTTGATCTGATTCAAAGCTTGTTGT
GCGGCCAGAAAGAGAGACTGAAGTTTGAAGGTCTTTGCTGCCATCCTTTCTTCTCTAAAATTGACTGGAACAACATTCGTAACTCTCCTC
CCCCCTTCGTTCCCACCCTCAAGTCTGACGATGACACCTCCAATTTTGATGAACCAGAGAAGAATTCGTGGGTTTCATCCTCTCCGTGCC
AGCTGAGCCCCTCAGGCTTCTCGGGTGAAGAACTGCCGTTTGTGGGGTTTTCGTACAGCAAGGCACTGGGGATTCTTGGTAGATCTGAGT
CTGTTGTGTCGGGTCTGGACTCCCCTGCCAAGACTAGCTCCATGGAAAAGAAACTTCTCATCAAAAGCAAAGAGCTACAAGACTCTCAGG
ACAAGTGTCACAAGATGGAGCAGGAAATGACCCGGTTACATCGGAGAGTGTCAGAGGTGGAGGCTGTGCTTAGTCAGAAGGAGGTGGAGC
TGAAGGCCTCTGAGACTCAGAGATCCCTCCTGGAGCAGGACCTTGCTACCTACATCACAGAATGCAGTAGCTTAAAGCGAAGTTTGGAGC
AAGCACGGATGGAGGTGTCCCAGGAGGATGACAAAGCACTGCAGCTTCTCCATGATATCAGAGAGCAGAGCCGGAAGCTCCAAGAAATCA
AAGAGCAGGAGTACCAGGCTCAAGTGGAAGAAATGAGGTTGATGATGAATCAGTTGGAAGAGGATCTTGTCTCAGCAAGAAGACGGAGTG
ATCTCTACGAATCTGAGCTGAGAGAGTCTCGGCTTGCTGCTGAAGAATTCAAGCGGAAAGCGACAGAATGTCAGCATAAACTGTTGAAGG
CTAAGGATCAAGGGAAGCCTGAAGTGGGAGAATATGCGAAACTGGAGAAGATCAATGCTGAGCAGCAGCTCAAAATTCAGGAGCTCCAAG
AGAAACTGGAGAAGGCTGTAAAAGCCAGCACGGAGGCCACCGAGCTGCTGCAGAATATCCGCCAGGCAAAGGAGCGAGCCGAGAGGGAGC
TGGAGAAGCTGCAGAACCGAGAGGATTCTTCTGAAGGCATCAGAAAGAAGCTGGTGGAAGCTGAGGAGCTCGAAGAGAAACATCGGGAGG
CCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGCACTATGAGGAAAAGATTAAAGTGTTGGACAATCAGATAA
AGAAAGACCTGGCTGACAAGGAGACACTGGAGAACATGATGCAGAGACACGAGGAGGAGGCCCATGAGAAGGGCAAAATTCTCAGCGAAC
AGAAGGCGATGATCAATGCTATGGATTCCAAGATCAGATCCCTGGAACAGAGGATTGTGGAACTGTCTGAAGCCAATAAACTTGCAGCAA
ATAGCAGTCTTTTTACCCAAAGGAACATGAAGGCCCAAGAAGAGATGATTTCTGAACTCAGGCAACAGAAATTTTACCTGGAGACACAGG
CTGGGAAGTTGGAGGCCCAGAACCGAAAACTGGAGGAGCAGCTGGAGAAGATCAGCCACCAAGACCACAGTGACAAGAATCGGCTGCTGG
AACTGGAGACAAGATTGCGGGAGGTCAGTCTAGAGCACGAGGAGCAGAAACTGGAGCTCAAGCGCCAGCTCACAGAGCTACAGCTCTCCC
TGCAGGAGCGCGAGTCACAGTTGACAGCCCTGCAGGCTGCACGGGCGGCCCTGGAGAGCCAGCTTCGCCAGGCGAAGACAGAGCTGGAAG
AGACCACAGCAGAAGCTGAAGAGGAGATCCAGGCACTCACGGCCTGCTCACTGCTACTGTGGCGTCTCGCATTCACCGGGCCGCCCAGCC
CGCCCTTCTCTATTTGGTGCCATTTACTTTATTGCCACTCCTCACGATGGCCTATTTAAAGGGCGACCTCCGGCGGATGTGGTCTGAGCC
TTTCCACTCCAAGTCCAGCAGCTCCCGATTCCTGGAAGTATGATGGATCACGTGGAAAGTGACCAGATGGCCGTCATAGTCCTTTTCTCT
CAACTCATGGTTTGTTTCCTCTTAGAGCTGGCCTGGTACTCAGAAATGTACCTGTGTTTAAGGAACTGCCGTGTGACTGGATTTGGCATT
TAAAGGGAGCTCGTTTGCAGGAGAGAGGTGCTGGAGCCCTGTTTGGTTCCTTCTCTTCCTGCGGATGTAGAGGTGGGGCCCCTTCCAAGA
GGGACAGGCCTCTCCCCAGCGCGCCTTCCTCCCACGTTTTTATGGATCTGCACCAGACTGTTACCTTCTGGGGGAGATGGAGATTTGACT
GTTTAAAAACTGAAAACAGCGAGGAGTCTTTCTAGAACTTTTGAACACTAAAAGGATGAAAAAAATTAGCAAACCGAAGTTTCTTCAATG
ACCCCTCGAGAACTTTGGGACCAGTTTCCTATAGGGGACTCAGTTTCAGAGAACTGAGACAGAAGCTCTTCTGTCGTTATATTCTTCTTT
CCTTTTTTTGGATTTATTAAATATTTTCTGTGGTGTGAAGTGACTTATTAAATCCACAGACATTGAGTGACTTCTTACAACATCCACATA
AGAATTTGTTGTAATGAGTTCATGTCCACCCAGATGTTGTGTTGGCAGTGAACAAGGGCACGGTTTTTATACATACGTACATATATATAT
ATAAACACACACATAGATATATATGAATAAACAAAAATGAAATCCTGCTAAGATCACGCTGTGTAGCTGACAGGGGCTTGCTGTCGTTTT
GAGCATGTCGAGCAGTTTACTGTGGCTTCCTTGTATATGGATAAGCTGCTGTCCTTCCCCTTCACAACTGACCCCGCAGTTACAAACTAG
TATAGCATTTGTGCTGATTGATGATAGACTCATGGACTTCAGGAGCCCTTACTTGGTTTTGATCAGTGTAGCAAATTAGGGATGAAGAGT
TCAAACCTTTTGGCCCTTTCTTTCTTTTCTAGGCTTCTCCCTCGCAGGGTGTTCCGTAGTTTCTTCTCGAGCCAATGCATGTATTATAGC
AGCAGGTGTCTTTGTGCTTTCTCATCATAGTAACGTACTACTTGTAAATACATTTTTCTATTTTCTATTTTTTTGTATTTTTTTTTTTGA
CATTTTGTTTCATTGGTGTGCTGTATATTTTCCATGCCCTCACTCCTTTAAGAAAAAAAAAAAGGAAAAAAGCAACACAATCCTGTCCTT
GCTGTTGTGATTATAGTCTTGGTTTACCTGTGGTGACAACCGGGTGTTGGGGACACATGTCAAATGCCCCTCTGAGATGGGCCCTAAATT
CCAGTAACTGGGGAAAGAACCAGCTGCTGTGTCCTGAGAGCCTGGCCCTGTGCTGTGGTCTCTGCTGCAAGCCCAGATTTCTGGGAGTAA
CTAGTGTTAGGTCTGCTGACCTTTACCTAAGCAGCCCCTGCCTGGTAAGAAGGTGCCCATTGTTCAGAGGCAAAGAGAAGCCTGCGGTTG
GCATGAGGATGCCTGACAACAAAGGCTGGAGAAGGGCCCTGAGTTCCAGCCTCTCCCCAAGGGTCCCCGCCCCAGTGGCTGCCTCTGTCT
TGACCTGTGTAATGAATTAGTGTGCTGTGTCACTGTGGCTTGAAGTCACTGTGGATCGAGCTCACAGGGGGCACCCATCCTGTTGTCAAC
AGAGTCTGAAGCAGTCAGGGTGTTGGATTCCTCTGTTGTTGTCATCAATTCCTGCTGAGGGGTTTCTGGGGTTTTGTTTTTAATAAATGA
CTCCTTTGTAGCCTTTGTCACATAATCTTCACTTTGGTTGTTGGTACCAAACAGAGCTCCCAGCCATCTCCTCCCTGTTCTGGAAGACTG
ATGGGAAGACTCTGTCTGTCCCCAGACCTGGTCATCTGCAGCTCTGGCCCAGTCATAGATACATCAAAGAACTGAAGCTTCTGCTGTCCA
CAGAACTCAAAACTGCCTCTGCATTGGGTGAAGACTAAAAATCCACTTGCGGACTCTCCCTTCCTTCCTTCTCAGCCCTCGAGGATGCAT
ATAGCTAATTAAGCAGGCCCAGAGACAGAGAGGGGGGCTCCAAAATGACTCGGATTAAGGGCAAGTGCCAGTGATGGGTAGAAATAACGT
TATCCTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTTGGGAGCTCGAGACCAGCCTGGCCAACATGG
TGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGAA
GAATCGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCAGAGATTGCGCCACTGCACTCAAGTCTGGGCGACAGGGTGAGACTCCATCTC
AAAAAAAAAAAAAAAAAGGAAATGTTATCCTGGCAGTGGGTCATTTTAATTTTTCTGTCTTTGTTTTCATAAGAAAATTAAATTCCAGAC

>16873_16873_1_CIT-SPPL3_CIT_chr12_120189855_ENST00000261833_SPPL3_chr12_121204175_ENST00000353487_length(amino acids)=971AA_BP=936
MGVRRAASGEMLKFKYGARNPLDAGAAEPIASRASRLNLFFQGKPPFMTQQQMSPLSREGILDALFVLFEECSQPALMKIKHVSNFVRKY
SDTIAELQELQPSAKDFEVRSLVGCGHFAEVQVVREKATGDIYAMKVMKKKALLAQEQVSFFEEERNILSRSTSPWIPQLQYAFQDKNHL
YLVMEYQPGGDLLSLLNRYEDQLDENLIQFYLAELILAVHSVHLMGYVHRDIKPENILVDRTGHIKLVDFGSAAKMNSNKMVNAKLPIGT
PDYMAPEVLTVMNGDGKGTYGLDCDWWSVGVIAYEMIYGRSPFAEGTSARTFNNIMNFQRFLKFPDDPKVSSDFLDLIQSLLCGQKERLK
FEGLCCHPFFSKIDWNNIRNSPPPFVPTLKSDDDTSNFDEPEKNSWVSSSPCQLSPSGFSGEELPFVGFSYSKALGILGRSESVVSGLDS
PAKTSSMEKKLLIKSKELQDSQDKCHKMEQEMTRLHRRVSEVEAVLSQKEVELKASETQRSLLEQDLATYITECSSLKRSLEQARMEVSQ
EDDKALQLLHDIREQSRKLQEIKEQEYQAQVEEMRLMMNQLEEDLVSARRRSDLYESELRESRLAAEEFKRKATECQHKLLKAKDQGKPE
VGEYAKLEKINAEQQLKIQELQEKLEKAVKASTEATELLQNIRQAKERAERELEKLQNREDSSEGIRKKLVEAEELEEKHREAQVSAQHL
EVHLKQKEQHYEEKIKVLDNQIKKDLADKETLENMMQRHEEEAHEKGKILSEQKAMINAMDSKIRSLEQRIVELSEANKLAANSSLFTQR
NMKAQEEMISELRQQKFYLETQAGKLEAQNRKLEEQLEKISHQDHSDKNRLLELETRLREVSLEHEEQKLELKRQLTELQLSLQERESQL

--------------------------------------------------------------
>16873_16873_2_CIT-SPPL3_CIT_chr12_120189855_ENST00000392521_SPPL3_chr12_121204175_ENST00000353487_length(transcript)=5631nt_BP=2960nt
GGCGCGGGGCGGAACAGATCGCAGACCTGGGGGTTCGCAGAGCCGCCAGTGGGGAGATGTTGAAGTTCAAATATGGAGCGCGGAATCCTT
TGGATGCTGGTGCTGCTGAACCCATTGCCAGCCGGGCCTCCAGGCTGAATCTGTTCTTCCAGGGGAAACCACCCTTTATGACTCAACAGC
AGATGTCTCCTCTTTCCCGAGAAGGGATATTAGATGCCCTCTTTGTTCTCTTTGAAGAATGCAGTCAGCCTGCTCTGATGAAGATTAAGC
ACGTGAGCAACTTTGTCCGGAAGTATTCCGACACCATAGCTGAGTTACAGGAGCTCCAGCCTTCGGCAAAGGACTTCGAAGTCAGAAGTC
TTGTAGGTTGTGGTCACTTTGCTGAAGTGCAGGTGGTAAGAGAGAAAGCAACCGGGGACATCTATGCTATGAAAGTGATGAAGAAGAAGG
CTTTATTGGCCCAGGAGCAGGTTTCATTTTTTGAGGAAGAGCGGAACATATTATCTCGAAGCACAAGCCCGTGGATCCCCCAATTACAGT
ATGCCTTTCAGGACAAAAATCACCTTTATCTGGTCATGGAATATCAGCCTGGAGGGGACTTGCTGTCACTTTTGAATAGATATGAGGACC
AGTTAGATGAAAACCTGATACAGTTTTACCTAGCTGAGCTGATTTTGGCTGTTCACAGCGTTCATCTGATGGGATACGTGCATCGAGACA
TCAAGCCTGAGAACATTCTCGTTGACCGCACAGGACACATCAAGCTGGTGGATTTTGGATCTGCCGCGAAAATGAATTCAAACAAGATGG
TGAATGCCAAACTCCCGATTGGGACCCCAGATTACATGGCTCCTGAAGTGCTGACTGTGATGAACGGGGATGGAAAAGGCACCTACGGCC
TGGACTGTGACTGGTGGTCAGTGGGCGTGATTGCCTATGAGATGATTTATGGGAGATCCCCCTTCGCAGAGGGAACCTCTGCCAGAACCT
TCAATAACATTATGAATTTCCAGCGGTTTTTGAAATTTCCAGATGACCCCAAAGTGAGCAGTGACTTTCTTGATCTGATTCAAAGCTTGT
TGTGCGGCCAGAAAGAGAGACTGAAGTTTGAAGGTCTTTGCTGCCATCCTTTCTTCTCTAAAATTGACTGGAACAACATTCGTAACTCTC
CTCCCCCCTTCGTTCCCACCCTCAAGTCTGACGATGACACCTCCAATTTTGATGAACCAGAGAAGAATTCGTGGGTTTCATCCTCTCCGT
GCCAGCTGAGCCCCTCAGGCTTCTCGGGTGAAGAACTGCCGTTTGTGGGGTTTTCGTACAGCAAGGCACTGGGGATTCTTGGTAGATCTG
AGTCTGTTGTGTCGGGTCTGGACTCCCCTGCCAAGACTAGCTCCATGGAAAAGAAACTTCTCATCAAAAGCAAAGAGCTACAAGACTCTC
AGGACAAGTGTCACAAGATGGAGCAGGAAATGACCCGGTTACATCGGAGAGTGTCAGAGGTGGAGGCTGTGCTTAGTCAGAAGGAGGTGG
AGCTGAAGGCCTCTGAGACTCAGAGATCCCTCCTGGAGCAGGACCTTGCTACCTACATCACAGAATGCAGTAGCTTAAAGCGAAGTTTGG
AGCAAGCACGGATGGAGGTGTCCCAGGAGGATGACAAAGCACTGCAGCTTCTCCATGATATCAGAGAGCAGAGCCGGAAGCTCCAAGAAA
TCAAAGAGCAGGAGTACCAGGCTCAAGTGGAAGAAATGAGGTTGATGATGAATCAGTTGGAAGAGGATCTTGTCTCAGCAAGAAGACGGA
GTGATCTCTACGAATCTGAGCTGAGAGAGTCTCGGCTTGCTGCTGAAGAATTCAAGCGGAAAGCGACAGAATGTCAGCATAAACTGTTGA
AGGCTAAGGATCAAGGGAAGCCTGAAGTGGGAGAATATGCGAAACTGGAGAAGATCAATGCTGAGCAGCAGCTCAAAATTCAGGAGCTCC
AAGAGAAACTGGAGAAGGCTGTAAAAGCCAGCACGGAGGCCACCGAGCTGCTGCAGAATATCCGCCAGGCAAAGGAGCGAGCCGAGAGGG
AGCTGGAGAAGCTGCAGAACCGAGAGGATTCTTCTGAAGGCATCAGAAAGAAGCTGGTGGAAGCTGAGGAACGCCGCCATTCTCTGGAGA
ACAAGGTAAAGAGACTAGAGACCATGGAGCGTAGAGAAAACAGACTGAAGGATGACATCCAGACAAAATCCCAACAGATCCAGCAGATGG
CTGATAAAATTCTGGAGCTCGAAGAGAAACATCGGGAGGCCCAAGTCTCAGCCCAGCACCTAGAAGTGCACCTGAAACAGAAAGAGCAGC
ACTATGAGGAAAAGATTAAAGTGTTGGACAATCAGATAAAGAAAGACCTGGCTGACAAGGAGACACTGGAGAACATGATGCAGAGACACG
AGGAGGAGGCCCATGAGAAGGGCAAAATTCTCAGCGAACAGAAGGCGATGATCAATGCTATGGATTCCAAGATCAGATCCCTGGAACAGA
GGATTGTGGAACTGTCTGAAGCCAATAAACTTGCAGCAAATAGCAGTCTTTTTACCCAAAGGAACATGAAGGCCCAAGAAGAGATGATTT
CTGAACTCAGGCAACAGAAATTTTACCTGGAGACACAGGCTGGGAAGTTGGAGGCCCAGAACCGAAAACTGGAGGAGCAGCTGGAGAAGA
TCAGCCACCAAGACCACAGTGACAAGAATCGGCTGCTGGAACTGGAGACAAGATTGCGGGAGGTCAGTCTAGAGCACGAGGAGCAGAAAC
TGGAGCTCAAGCGCCAGCTCACAGAGCTACAGCTCTCCCTGCAGGAGCGCGAGTCACAGTTGACAGCCCTGCAGGCTGCACGGGCGGCCC
TGGAGAGCCAGCTTCGCCAGGCGAAGACAGAGCTGGAAGAGACCACAGCAGAAGCTGAAGAGGAGATCCAGGCACTCACGGCCTGCTCAC
TGCTACTGTGGCGTCTCGCATTCACCGGGCCGCCCAGCCCGCCCTTCTCTATTTGGTGCCATTTACTTTATTGCCACTCCTCACGATGGC
CTATTTAAAGGGCGACCTCCGGCGGATGTGGTCTGAGCCTTTCCACTCCAAGTCCAGCAGCTCCCGATTCCTGGAAGTATGATGGATCAC
GTGGAAAGTGACCAGATGGCCGTCATAGTCCTTTTCTCTCAACTCATGGTTTGTTTCCTCTTAGAGCTGGCCTGGTACTCAGAAATGTAC
CTGTGTTTAAGGAACTGCCGTGTGACTGGATTTGGCATTTAAAGGGAGCTCGTTTGCAGGAGAGAGGTGCTGGAGCCCTGTTTGGTTCCT
TCTCTTCCTGCGGATGTAGAGGTGGGGCCCCTTCCAAGAGGGACAGGCCTCTCCCCAGCGCGCCTTCCTCCCACGTTTTTATGGATCTGC
ACCAGACTGTTACCTTCTGGGGGAGATGGAGATTTGACTGTTTAAAAACTGAAAACAGCGAGGAGTCTTTCTAGAACTTTTGAACACTAA
AAGGATGAAAAAAATTAGCAAACCGAAGTTTCTTCAATGACCCCTCGAGAACTTTGGGACCAGTTTCCTATAGGGGACTCAGTTTCAGAG
AACTGAGACAGAAGCTCTTCTGTCGTTATATTCTTCTTTCCTTTTTTTGGATTTATTAAATATTTTCTGTGGTGTGAAGTGACTTATTAA
ATCCACAGACATTGAGTGACTTCTTACAACATCCACATAAGAATTTGTTGTAATGAGTTCATGTCCACCCAGATGTTGTGTTGGCAGTGA
ACAAGGGCACGGTTTTTATACATACGTACATATATATATATAAACACACACATAGATATATATGAATAAACAAAAATGAAATCCTGCTAA
GATCACGCTGTGTAGCTGACAGGGGCTTGCTGTCGTTTTGAGCATGTCGAGCAGTTTACTGTGGCTTCCTTGTATATGGATAAGCTGCTG
TCCTTCCCCTTCACAACTGACCCCGCAGTTACAAACTAGTATAGCATTTGTGCTGATTGATGATAGACTCATGGACTTCAGGAGCCCTTA
CTTGGTTTTGATCAGTGTAGCAAATTAGGGATGAAGAGTTCAAACCTTTTGGCCCTTTCTTTCTTTTCTAGGCTTCTCCCTCGCAGGGTG
TTCCGTAGTTTCTTCTCGAGCCAATGCATGTATTATAGCAGCAGGTGTCTTTGTGCTTTCTCATCATAGTAACGTACTACTTGTAAATAC
ATTTTTCTATTTTCTATTTTTTTGTATTTTTTTTTTTGACATTTTGTTTCATTGGTGTGCTGTATATTTTCCATGCCCTCACTCCTTTAA
GAAAAAAAAAAAGGAAAAAAGCAACACAATCCTGTCCTTGCTGTTGTGATTATAGTCTTGGTTTACCTGTGGTGACAACCGGGTGTTGGG
GACACATGTCAAATGCCCCTCTGAGATGGGCCCTAAATTCCAGTAACTGGGGAAAGAACCAGCTGCTGTGTCCTGAGAGCCTGGCCCTGT
GCTGTGGTCTCTGCTGCAAGCCCAGATTTCTGGGAGTAACTAGTGTTAGGTCTGCTGACCTTTACCTAAGCAGCCCCTGCCTGGTAAGAA
GGTGCCCATTGTTCAGAGGCAAAGAGAAGCCTGCGGTTGGCATGAGGATGCCTGACAACAAAGGCTGGAGAAGGGCCCTGAGTTCCAGCC
TCTCCCCAAGGGTCCCCGCCCCAGTGGCTGCCTCTGTCTTGACCTGTGTAATGAATTAGTGTGCTGTGTCACTGTGGCTTGAAGTCACTG
TGGATCGAGCTCACAGGGGGCACCCATCCTGTTGTCAACAGAGTCTGAAGCAGTCAGGGTGTTGGATTCCTCTGTTGTTGTCATCAATTC
CTGCTGAGGGGTTTCTGGGGTTTTGTTTTTAATAAATGACTCCTTTGTAGCCTTTGTCACATAATCTTCACTTTGGTTGTTGGTACCAAA
CAGAGCTCCCAGCCATCTCCTCCCTGTTCTGGAAGACTGATGGGAAGACTCTGTCTGTCCCCAGACCTGGTCATCTGCAGCTCTGGCCCA
GTCATAGATACATCAAAGAACTGAAGCTTCTGCTGTCCACAGAACTCAAAACTGCCTCTGCATTGGGTGAAGACTAAAAATCCACTTGCG
GACTCTCCCTTCCTTCCTTCTCAGCCCTCGAGGATGCATATAGCTAATTAAGCAGGCCCAGAGACAGAGAGGGGGGCTCCAAAATGACTC
GGATTAAGGGCAAGTGCCAGTGATGGGTAGAAATAACGTTATCCTTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGAT
CACAAGGTTGGGAGCTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCTGGGCATGGTGGCAG
GCGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGAAGAATCGCTTGAACCTGGAAGGCGGAGGTTGCAGTGAGCAGAGATTGCGCCA
CTGCACTCAAGTCTGGGCGACAGGGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAGGAAATGTTATCCTGGCAGTGGGTCATTTTAATT

>16873_16873_2_CIT-SPPL3_CIT_chr12_120189855_ENST00000392521_SPPL3_chr12_121204175_ENST00000353487_length(amino acids)=1013AA_BP=978
MGVRRAASGEMLKFKYGARNPLDAGAAEPIASRASRLNLFFQGKPPFMTQQQMSPLSREGILDALFVLFEECSQPALMKIKHVSNFVRKY
SDTIAELQELQPSAKDFEVRSLVGCGHFAEVQVVREKATGDIYAMKVMKKKALLAQEQVSFFEEERNILSRSTSPWIPQLQYAFQDKNHL
YLVMEYQPGGDLLSLLNRYEDQLDENLIQFYLAELILAVHSVHLMGYVHRDIKPENILVDRTGHIKLVDFGSAAKMNSNKMVNAKLPIGT
PDYMAPEVLTVMNGDGKGTYGLDCDWWSVGVIAYEMIYGRSPFAEGTSARTFNNIMNFQRFLKFPDDPKVSSDFLDLIQSLLCGQKERLK
FEGLCCHPFFSKIDWNNIRNSPPPFVPTLKSDDDTSNFDEPEKNSWVSSSPCQLSPSGFSGEELPFVGFSYSKALGILGRSESVVSGLDS
PAKTSSMEKKLLIKSKELQDSQDKCHKMEQEMTRLHRRVSEVEAVLSQKEVELKASETQRSLLEQDLATYITECSSLKRSLEQARMEVSQ
EDDKALQLLHDIREQSRKLQEIKEQEYQAQVEEMRLMMNQLEEDLVSARRRSDLYESELRESRLAAEEFKRKATECQHKLLKAKDQGKPE
VGEYAKLEKINAEQQLKIQELQEKLEKAVKASTEATELLQNIRQAKERAERELEKLQNREDSSEGIRKKLVEAEERRHSLENKVKRLETM
ERRENRLKDDIQTKSQQIQQMADKILELEEKHREAQVSAQHLEVHLKQKEQHYEEKIKVLDNQIKKDLADKETLENMMQRHEEEAHEKGK
ILSEQKAMINAMDSKIRSLEQRIVELSEANKLAANSSLFTQRNMKAQEEMISELRQQKFYLETQAGKLEAQNRKLEEQLEKISHQDHSDK
NRLLELETRLREVSLEHEEQKLELKRQLTELQLSLQERESQLTALQAARAALESQLRQAKTELEETTAEAEEEIQALTACSLLLWRLAFT

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Fusion Gene PPI Analysis for CIT-SPPL3


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
HgeneCITchr12:120189855chr12:121204175ENST00000261833-22471091_1302926.02028.0Rho/Rac
HgeneCITchr12:120189855chr12:121204175ENST00000392521-23481091_1302968.02070.0Rho/Rac


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 CIT-SPPL3


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 CIT-SPPL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCITC4310723MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCITC3711387Autosomal Recessive Primary Microcephaly1ORPHANET
HgeneCITC3809431MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE1GENOMICS_ENGLAND