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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:CIT-SPPL3 (FusionGDB2 ID:HG11113TG121665) |
Fusion Gene Summary for CIT-SPPL3 |
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Fusion gene information | Fusion gene name: CIT-SPPL3 | Fusion gene ID: hg11113tg121665 | Hgene | Tgene | Gene symbol | CIT | SPPL3 | Gene ID | 11113 | 121665 |
Gene name | citron rho-interacting serine/threonine kinase | signal peptide peptidase like 3 | |
Synonyms | CITK|CRIK|MCPH17|STK21 | IMP2|MDHV1887|PRO4332|PSH1|PSL4 | |
Cytomap | ('CIT')('SPPL3') 12q24.23 | 12q24.31 | |
Type of gene | protein-coding | protein-coding | |
Description | citron Rho-interacting kinasecitron (rho-interacting, serine/threonine kinase 21)serine/threonine kinase 21serine/threonine-protein kinase 21 | signal peptide peptidase-like 3SPP-like 3intramembrane protease 2presenilin homologous protein 1presenilin-like protein 4 | |
Modification date | 20200320 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000537607, ENST00000261833, ENST00000392521, | ||
Fusion gene scores | * DoF score | 9 X 9 X 6=486 | 11 X 9 X 5=495 |
# samples | 9 | 11 | |
** MAII score | log2(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 breakpoint | CIT(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SPPL3 | GO:0033619 | membrane protein proteolysis | 2313285 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | UCEC | TCGA-E6-A8L9-01A | CIT | chr12 | 120189855 | - | SPPL3 | chr12 | 121204175 | - |
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Fusion Gene ORF analysis for CIT-SPPL3 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000537607 | ENST00000353487 | CIT | chr12 | 120189855 | - | SPPL3 | chr12 | 121204175 | - |
In-frame | ENST00000261833 | ENST00000353487 | CIT | chr12 | 120189855 | - | SPPL3 | chr12 | 121204175 | - |
In-frame | ENST00000392521 | ENST00000353487 | CIT | chr12 | 120189855 | - | SPPL3 | chr12 | 121204175 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000392521 | CIT | chr12 | 120189855 | - | ENST00000353487 | SPPL3 | chr12 | 121204175 | - | 5631 | 2960 | 26 | 3067 | 1013 |
ENST00000261833 | CIT | chr12 | 120189855 | - | ENST00000353487 | SPPL3 | chr12 | 121204175 | - | 5502 | 2831 | 23 | 2938 | 971 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000392521 | ENST00000353487 | CIT | chr12 | 120189855 | - | SPPL3 | chr12 | 121204175 | - | 0.001491922 | 0.99850804 |
ENST00000261833 | ENST00000353487 | CIT | chr12 | 120189855 | - | SPPL3 | chr12 | 121204175 | - | 0.002184587 | 0.9978154 |
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Fusion Genomic Features for CIT-SPPL3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CIT-SPPL3 |
![]() 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. |
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Hgene | Tgene |
. | . |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 361_431 | 926 | 2028.0 | Domain | AGC-kinase C-terminal |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 97_360 | 926 | 2028.0 | Domain | Protein kinase |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 361_431 | 968 | 2070.0 | Domain | AGC-kinase C-terminal |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 97_360 | 968 | 2070.0 | Domain | Protein kinase |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 103_111 | 926 | 2028.0 | Nucleotide binding | ATP |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 103_111 | 968 | 2070.0 | Nucleotide binding | ATP |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 374_379 | 324 | 385.0 | Compositional bias | Note=Poly-Ser | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 341_343 | 324 | 385.0 | Motif | Note=PAL | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 333_339 | 324 | 385.0 | Topological domain | Lumenal | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 361_384 | 324 | 385.0 | Topological domain | Cytoplasmic | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 340_360 | 324 | 385.0 | Transmembrane | Helical |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 453_1297 | 926 | 2028.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 453_1297 | 968 | 2070.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 1443_1563 | 926 | 2028.0 | Domain | PH |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 1591_1881 | 926 | 2028.0 | Domain | CNH |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 1443_1563 | 968 | 2070.0 | Domain | PH |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 1591_1881 | 968 | 2070.0 | Domain | CNH |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 1953_1958 | 926 | 2028.0 | Motif | SH3-binding |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 1953_1958 | 968 | 2070.0 | Motif | SH3-binding |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 1362_1411 | 926 | 2028.0 | Zinc finger | Phorbol-ester/DAG-type |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 1362_1411 | 968 | 2070.0 | Zinc finger | Phorbol-ester/DAG-type |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 119_136 | 324 | 385.0 | Topological domain | Cytoplasmic | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 160_164 | 324 | 385.0 | Topological domain | Lumenal | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 186_190 | 324 | 385.0 | Topological domain | Cytoplasmic | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 1_8 | 324 | 385.0 | Topological domain | Lumenal | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 212_262 | 324 | 385.0 | Topological domain | Lumenal | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 284_311 | 324 | 385.0 | Topological domain | Cytoplasmic | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 30_74 | 324 | 385.0 | Topological domain | Cytoplasmic | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 96_97 | 324 | 385.0 | Topological domain | Lumenal | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 137_159 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 165_185 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 191_211 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 263_283 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 312_332 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 75_95 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 98_118 | 324 | 385.0 | Transmembrane | Helical | |
Tgene | SPPL3 | chr12:120189855 | chr12:121204175 | ENST00000353487 | 8 | 11 | 9_29 | 324 | 385.0 | Transmembrane | Helical |
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Fusion Gene Sequence for CIT-SPPL3 |
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>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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000261833 | - | 22 | 47 | 1091_1302 | 926.0 | 2028.0 | Rho/Rac |
Hgene | CIT | chr12:120189855 | chr12:121204175 | ENST00000392521 | - | 23 | 48 | 1091_1302 | 968.0 | 2070.0 | Rho/Rac |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CIT-SPPL3 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CIT-SPPL3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CIT | C4310723 | MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | CIT | C3711387 | Autosomal Recessive Primary Microcephaly | 1 | ORPHANET |
Hgene | CIT | C3809431 | MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE | 1 | GENOMICS_ENGLAND |