![]() |
||||||
|
![]() | 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:C12orf76-SP1 (FusionGDB2 ID:HG400073TG6667) |
Fusion Gene Summary for C12orf76-SP1 |
![]() |
Fusion gene information | Fusion gene name: C12orf76-SP1 | Fusion gene ID: hg400073tg6667 | Hgene | Tgene | Gene symbol | C12orf76 | SP1 | Gene ID | 400073 | 6667 |
Gene name | chromosome 12 open reading frame 76 | Sp1 transcription factor | |
Synonyms | - | - | |
Cytomap | ('C12orf76')('SP1') 12q24.11 | 12q13.13 | |
Type of gene | protein-coding | protein-coding | |
Description | uncharacterized protein C12orf76 | transcription factor Sp1specificity protein 1 | |
Modification date | 20200320 | 20200329 | |
UniProtAcc | Q8N812 | . | |
Ensembl transtripts involved in fusion gene | ENST00000546627, ENST00000546651, ENST00000547573, ENST00000549724, ENST00000551185, ENST00000309050, ENST00000548191, ENST00000548936, | ||
Fusion gene scores | * DoF score | 5 X 3 X 3=45 | 9 X 7 X 5=315 |
# samples | 5 | 11 | |
** MAII score | log2(5/45*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/315*10)=-1.51784830486262 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: C12orf76 [Title/Abstract] AND SP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | C12orf76(110486168)-SP1(53775443), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | C12orf76-SP1 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. C12orf76-SP1 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. C12orf76-SP1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. C12orf76-SP1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SP1 | GO:0006355 | regulation of transcription, DNA-templated | 12169688|12560508 |
Tgene | SP1 | GO:0043923 | positive regulation by host of viral transcription | 2833704 |
Tgene | SP1 | GO:0045893 | positive regulation of transcription, DNA-templated | 12771217|14580349 |
Tgene | SP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 2833704|12169688|16691198|19263243|21659522|27030318 |
Tgene | SP1 | GO:1904828 | positive regulation of hydrogen sulfide biosynthetic process | 21659522 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() |
![]() * 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 | STAD | TCGA-BR-8058-01A | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
Top |
Fusion Gene ORF analysis for C12orf76-SP1 |
![]() * 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 |
5CDS-5UTR | ENST00000546627 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
5CDS-5UTR | ENST00000546651 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
5CDS-5UTR | ENST00000547573 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
5CDS-5UTR | ENST00000549724 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
5CDS-5UTR | ENST00000551185 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
Frame-shift | ENST00000546627 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
Frame-shift | ENST00000546651 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
Frame-shift | ENST00000547573 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
Frame-shift | ENST00000551185 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
In-frame | ENST00000549724 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
intron-3CDS | ENST00000309050 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
intron-3CDS | ENST00000548191 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
intron-3CDS | ENST00000548936 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
intron-5UTR | ENST00000309050 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
intron-5UTR | ENST00000548191 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
intron-5UTR | ENST00000548936 | ENST00000426431 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + |
![]() |
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) |
ENST00000549724 | C12orf76 | chr12 | 110486168 | - | ENST00000327443 | SP1 | chr12 | 53775443 | + | 3478 | 737 | 490 | 3087 | 865 |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000549724 | ENST00000327443 | C12orf76 | chr12 | 110486168 | - | SP1 | chr12 | 53775443 | + | 0.007747684 | 0.9922523 |
Top |
Fusion Genomic Features for C12orf76-SP1 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
C12orf76 | chr12 | 110486167 | - | SP1 | chr12 | 53775442 | + | 1.04E-08 | 1 |
C12orf76 | chr12 | 110486167 | - | SP1 | chr12 | 53775442 | + | 1.04E-08 | 1 |
![]() |
![]() |
![]() |
![]() |
Top |
Fusion Protein Features for C12orf76-SP1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:110486168/chr12:53775443) - 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. |
![]() |
![]() |
Hgene | Tgene |
C12orf76 | . |
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 |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 271_379 | 2 | 786.0 | Compositional bias | Note=Ser/Thr-rich | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 36_143 | 2 | 786.0 | Compositional bias | Note=Ser/Thr-rich | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 462_470 | 2 | 786.0 | Motif | 9aaTAD | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 146_251 | 2 | 786.0 | Region | Note=Transactivation domain A (Gln-rich) | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 261_495 | 2 | 786.0 | Region | Note=Transactivation domain B (Gln-rich) | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 2_82 | 2 | 786.0 | Region | Note=Repressor domain | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 496_610 | 2 | 786.0 | Region | Note=Transactivation domain C (highly charged) | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 619_785 | 2 | 786.0 | Region | Note=VZV IE62-binding | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 708_785 | 2 | 786.0 | Region | Note=Domain D | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 626_650 | 2 | 786.0 | Zinc finger | C2H2-type 1 | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 656_680 | 2 | 786.0 | Zinc finger | C2H2-type 2 | |
Tgene | SP1 | chr12:110486168 | chr12:53775443 | ENST00000327443 | 0 | 6 | 686_708 | 2 | 786.0 | Zinc finger | C2H2-type 3 |
- 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 |
Top |
Fusion Gene Sequence for C12orf76-SP1 |
![]() |
>10897_10897_1_C12orf76-SP1_C12orf76_chr12_110486168_ENST00000549724_SP1_chr12_53775443_ENST00000327443_length(transcript)=3478nt_BP=737nt AGGCAGGCCCAGGCCTGGTTTCGGGCCTGGCGCCGGGCTGCCCGTCTTTGGTTTCACTTCCTTGTTGTTTCTTCTTAAAACAGGTACTGA GTATAAAACAATATAAAACAAAATGAGAGGGTCTCTCTCTCCCCCAGTCTCTGGGACAGAGCAGAGAGCAAGAACAAAATCGCTGTGCTC GTGGACTTTACATGCTAGGGCGGAGCAGGTCCTCAGAAAATCATCAAATGCCCGTAATGAAGGTTTAATAAGAAAATGCATGGATTCGTA AAAAATCTTCAATAGGCCCCAAATGGACCTACAAGACCTCGACCCCAATGGATGAGGGAACGCTAACCACAGCAGAACGGTAATCGCGGC GAACGTTGGCACAGACGGAAAGTTGATCTGAACGGAAAGTTGGTCCGGGGGAAACATTAGTTATTGAGGAACGTTAATCCGGAACAAATC TTAGGCAGAAGCGGAACTTAGACCAGGACGCACAGTTACCATGGCAATGACGCGCGCCCTAAGGGCGGTGGCAGCGACGCAGAGAGACCT GGGAGGAGACAGAGGCAGGGCTTGCGACGGAAGTGGCCTCTCTGCTTCTGCAGGGCTGGGGAAGATGCTGCGTCCAGCGTTACCGTGGCT GTACCTTGGCCTCTGCAGCCTCCTGGTGGGGGAGGCAGAGGCCCCGAGCCCCGTGGATCCGCTGGAGCGGAGCCGGCCGTACGCGGTGCT GCGAGGGCAGAACCTGGACCAAGATCACTCCATGGATGAAATGACAGCTGTGGTGAAAATTGAAAAAGGAGTTGGTGGCAATAATGGGGG CAATGGTAATGGTGGTGGTGCCTTTTCACAGGCTCGAAGTAGCAGCACAGGCAGTAGCAGCAGCACTGGAGGAGGAGGGCAGGAGTCCCA GCCATCCCCTTTGGCTCTGCTGGCAGCAACTTGCAGCAGAATTGAGTCACCCAATGAGAACAGCAACAACTCCCAGGGCCCGAGTCAGTC AGGGGGAACAGGTGAGCTTGACCTCACAGCCACACAACTTTCACAGGGTGCCAATGGCTGGCAGATCATCTCTTCCTCCTCTGGGGCTAC CCCTACCTCAAAGGAACAGAGTGGCAGCAGTACCAATGGCAGCAATGGCAGTGAGTCTTCCAAGAATCGCACAGTCTCTGGTGGGCAGTA TGTTGTGGCTGCCGCTCCCAACTTACAGAACCAGCAAGTTCTGACAGGACTACCTGGAGTGATGCCTAATATTCAGTATCAAGTAATCCC ACAGTTCCAGACCGTTGATGGGCAACAGCTGCAGTTTGCTGCCACTGGGGCCCAAGTGCAGCAGGATGGTTCTGGTCAAATACAGATCAT ACCAGGTGCAAACCAACAGATTATCACAAATCGAGGAAGTGGAGGCAACATCATTGCTGCTATGCCAAACCTACTCCAGCAGGCTGTCCC CCTCCAAGGCCTGGCTAATAATGTACTCTCAGGACAGACTCAGTATGTGACCAATGTACCAGTGGCCCTGAATGGGAACATCACCTTGCT ACCTGTCAACAGCGTTTCTGCAGCTACCTTGACTCCCAGCTCTCAGGCAGTCACGATCAGCAGCTCTGGGTCCCAGGAGAGTGGCTCACA GCCTGTCACCTCAGGGACTACCATCAGTTCTGCCAGCTTGGTATCATCACAAGCCAGTTCCAGCTCCTTTTTCACCAATGCCAATAGCTA CTCAACTACTACTACCACCAGCAACATGGGAATTATGAACTTTACTACCAGTGGATCATCAGGGACCAACTCTCAAGGCCAGACACCCCA GAGGGTCAGTGGGCTACAGGGGTCTGATGCTCTGAACATCCAGCAAAACCAGACATCTGGAGGCTCATTGCAAGCAGGCCAGCAAAAAGA AGGAGAGCAAAACCAGCAGACACAGCAGCAACAAATTCTTATCCAGCCTCAGCTAGTTCAAGGGGGACAGGCCCTCCAGGCCCTCCAAGC AGCACCATTGTCAGGGCAGACCTTTACAACTCAAGCCATCTCCCAGGAAACCCTCCAGAACCTCCAGCTTCAGGCTGTTCCAAACTCTGG TCCCATCATCATCCGGACACCAACAGTGGGGCCCAATGGACAGGTCAGTTGGCAGACTCTACAGCTGCAGAACCTCCAAGTTCAGAACCC ACAAGCCCAAACAATCACCTTAGCCCCAATGCAGGGTGTTTCCTTGGGGCAGACCAGCAGCAGCAACACCACTCTCACACCCATTGCCTC AGCTGCTTCCATTCCTGCTGGCACAGTCACTGTGAATGCTGCTCAACTCTCCTCCATGCCAGGCCTCCAGACCATTAACCTCAGTGCATT GGGTACTTCAGGAATCCAGGTGCACCCAATTCAAGGCCTGCCGTTGGCTATAGCAAATGCCCCAGGTGATCATGGAGCTCAGCTTGGTCT CCATGGGGCTGGTGGTGATGGAATACATGATGACACAGCAGGTGGAGAGGAAGGAGAAAACAGCCCAGATGCCCAACCCCAAGCCGGTCG GAGGACCCGGCGGGAAGCATGCACCTGCCCCTACTGTAAAGACAGTGAAGGAAGGGGCTCGGGGGATCCTGGCAAAAAGAAACAGCATAT TTGCCACATCCAAGGCTGTGGGAAAGTGTATGGCAAGACCTCTCACCTGCGGGCACACTTGCGCTGGCATACAGGCGAGAGGCCATTTAT GTGTACCTGGTCATACTGTGGGAAACGCTTCACACGTTCGGATGAGCTACAGAGGCACAAACGTACACACACAGGTGAGAAGAAATTTGC CTGCCCTGAGTGTCCTAAGCGCTTCATGAGGAGTGACCACCTGTCAAAACATATCAAGACCCACCAGAATAAGAAGGGAGGCCCAGGTGT AGCTCTGAGTGTGGGCACTTTGCCCCTGGACAGTGGGGCAGGTTCAGAAGGCAGTGGCACTGCCACTCCTTCAGCCCTTATTACCACCAA TATGGTAGCCATGGAGGCCATCTGTCCAGAGGGCATTGCCCGTCTTGCCAACAGTGGCATCAACGTCATGCAGGTGGCAGATCTGCAGTC CATTAATATCAGTGGCAATGGCTTCTGAGATCAGGCACCCGGGGCCAGAGACATATGGGCCATACCCCTTAACCCCGGGATGCAAGGTAG CATGGGTCCAAGAGACATGGAAGAGAGAGCCATGAAGCATTAAAATGCATGGTGTTGAGAAGAATCAGGAGAGGGATACAAGAGAGGAGA TGGGGTCCCGGCACCCATCTGTATCATCAGTGCCTCTTTGAAGGTGGGAAACATTAGTGAAAATTCTGTTGGTGCCACGCTTTGATGAGC ATTTGTTTGACCCCAGTTTCTTCTTACACTTCTTACCCCAGCCTACCCTTCCTGCATTTCTCTTCTCAGCTCTTCCATGATGGATTCCCC >10897_10897_1_C12orf76-SP1_C12orf76_chr12_110486168_ENST00000549724_SP1_chr12_53775443_ENST00000327443_length(amino acids)=865AA_BP=81 MAMTRALRAVAATQRDLGGDRGRACDGSGLSASAGLGKMLRPALPWLYLGLCSLLVGEAEAPSPVDPLERSRPYAVLRGQNLDQDHSMDE MTAVVKIEKGVGGNNGGNGNGGGAFSQARSSSTGSSSSTGGGGQESQPSPLALLAATCSRIESPNENSNNSQGPSQSGGTGELDLTATQL SQGANGWQIISSSSGATPTSKEQSGSSTNGSNGSESSKNRTVSGGQYVVAAAPNLQNQQVLTGLPGVMPNIQYQVIPQFQTVDGQQLQFA ATGAQVQQDGSGQIQIIPGANQQIITNRGSGGNIIAAMPNLLQQAVPLQGLANNVLSGQTQYVTNVPVALNGNITLLPVNSVSAATLTPS SQAVTISSSGSQESGSQPVTSGTTISSASLVSSQASSSSFFTNANSYSTTTTTSNMGIMNFTTSGSSGTNSQGQTPQRVSGLQGSDALNI QQNQTSGGSLQAGQQKEGEQNQQTQQQQILIQPQLVQGGQALQALQAAPLSGQTFTTQAISQETLQNLQLQAVPNSGPIIIRTPTVGPNG QVSWQTLQLQNLQVQNPQAQTITLAPMQGVSLGQTSSSNTTLTPIASAASIPAGTVTVNAAQLSSMPGLQTINLSALGTSGIQVHPIQGL PLAIANAPGDHGAQLGLHGAGGDGIHDDTAGGEEGENSPDAQPQAGRRTRREACTCPYCKDSEGRGSGDPGKKKQHICHIQGCGKVYGKT SHLRAHLRWHTGERPFMCTWSYCGKRFTRSDELQRHKRTHTGEKKFACPECPKRFMRSDHLSKHIKTHQNKKGGPGVALSVGTLPLDSGA -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for C12orf76-SP1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for C12orf76-SP1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for C12orf76-SP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0036341 | Schizophrenia | 3 | PSYGENET | |
Tgene | C0007114 | Malignant neoplasm of skin | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0020456 | Hyperglycemia | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0027627 | Neoplasm Metastasis | 1 | CTD_human | |
Tgene | C0033975 | Psychotic Disorders | 1 | PSYGENET | |
Tgene | C0037286 | Skin Neoplasms | 1 | CTD_human | |
Tgene | C0221765 | Chronic schizophrenia | 1 | PSYGENET | |
Tgene | C0349204 | Nonorganic psychosis | 1 | PSYGENET | |
Tgene | C1855520 | Hyperglycemia, Postprandial | 1 | CTD_human |