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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:C12orf76-SP1 (FusionGDB2 ID:10949)

Fusion Gene Summary for C12orf76-SP1

check button Fusion gene summary
Fusion gene informationFusion gene name: C12orf76-SP1
Fusion gene ID: 10949
HgeneTgene
Gene symbol

C12orf76

SP1

Gene ID

400073

199699

Gene namechromosome 12 open reading frame 76DAN domain BMP antagonist family member 5
Synonyms-CER2|CERL2|CKTSF1B3|COCO|CRL2|DANTE|GREM3|SP1
Cytomap

12q24.11

19p13.13

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C12orf76DAN domain family member 5DAN domain family member 5, BMP antagonistDAN domain family, member 5cerberus 2cerberus-like 2cerberus-like protein 2cerl-2cysteine knot superfamily 1, BMP antagonist 3gremlin-3
Modification date2020032020200313
UniProtAcc.

SP110

Ensembl transtripts involved in fusion geneENST00000309050, ENST00000548936, 
ENST00000548191, ENST00000546651, 
ENST00000549724, ENST00000551185, 
ENST00000546627, ENST00000547573, 
ENST00000327443, ENST00000426431, 
Fusion gene scores* DoF score5 X 3 X 3=459 X 7 X 5=315
# samples 511
** MAII scorelog2(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 breakpointC12orf76(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 Tgene partner, which is a transcription factor due to the frame-shifted ORF.
C12orf76-SP1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check buttonFusion gene breakpoints across C12orf76 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-8058-01AC12orf76chr12

110486168

-SP1chr12

53775443

+


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Fusion Gene ORF analysis for C12orf76-SP1

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
intron-3CDSENST00000309050ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
intron-5UTRENST00000309050ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
intron-3CDSENST00000548936ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
intron-5UTRENST00000548936ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
intron-3CDSENST00000548191ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
intron-5UTRENST00000548191ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
Frame-shiftENST00000546651ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
5CDS-5UTRENST00000546651ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
In-frameENST00000549724ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
5CDS-5UTRENST00000549724ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
Frame-shiftENST00000551185ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
5CDS-5UTRENST00000551185ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
Frame-shiftENST00000546627ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
5CDS-5UTRENST00000546627ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+
Frame-shiftENST00000547573ENST00000327443C12orf76chr12

110486168

-SP1chr12

53775443

+
5CDS-5UTRENST00000547573ENST00000426431C12orf76chr12

110486168

-SP1chr12

53775443

+

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)
ENST00000549724C12orf76chr12110486168-ENST00000327443SP1chr1253775443+34787374903087865

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
ENST00000549724ENST00000327443C12orf76chr12110486168-SP1chr1253775443+0.0077476840.9922523

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Fusion Genomic Features for C12orf76-SP1


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)
C12orf76chr12110486167-SP1chr1253775442+1.04E-081
C12orf76chr12110486167-SP1chr1253775442+1.04E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for C12orf76-SP1


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.SP1

SP110

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.689

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
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306271_3792.3333333333333335786.0Compositional biasNote=Ser/Thr-rich
TgeneSP1chr12:110486168chr12:53775443ENST000003274430636_1432.3333333333333335786.0Compositional biasNote=Ser/Thr-rich
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306462_4702.3333333333333335786.0Motif9aaTAD
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306146_2512.3333333333333335786.0RegionNote=Transactivation domain A (Gln-rich)
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306261_4952.3333333333333335786.0RegionNote=Transactivation domain B (Gln-rich)
TgeneSP1chr12:110486168chr12:53775443ENST00000327443062_822.3333333333333335786.0RegionNote=Repressor domain
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306496_6102.3333333333333335786.0RegionNote=Transactivation domain C (highly charged)
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306619_7852.3333333333333335786.0RegionNote=VZV IE62-binding
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306708_7852.3333333333333335786.0RegionNote=Domain D
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306626_6502.3333333333333335786.0Zinc fingerC2H2-type 1
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306656_6802.3333333333333335786.0Zinc fingerC2H2-type 2
TgeneSP1chr12:110486168chr12:53775443ENST0000032744306686_7082.3333333333333335786.0Zinc fingerC2H2-type 3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for C12orf76-SP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000549724_ENST00000327443_TCGA-BR-8058-01A_C12orf76_chr12_110486168_-_SP1_chr12_53775443_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

>In-frame_ENST00000549724_ENST00000327443_TCGA-BR-8058-01A_C12orf76_chr12_110486168_-_SP1_chr12_53775443_length(amino acids)=865AA_start in transcript=490_stop in transcript=3087
MAMTRALRAVAATQRDLGGDRGRACDGSGLSASAGLGKMLRPALPWLYLGLCSLLVGEAEAPSPVDPLERSRPYAVLRGQNLDQDHSMDE
MTAVVKIEKGVGGNNGGNGNGGGAFSQARSSSTGSSSSTGGGGQESQPSPLALLAATCSRIESPNENSNNSQGPSQSGGTGELDLTATQL
SQGANGWQIISSSSGATPTSKEQSGSSTNGSNGSESSKNRTVSGGQYVVAAAPNLQNQQVLTGLPGVMPNIQYQVIPQFQTVDGQQLQFA
ATGAQVQQDGSGQIQIIPGANQQIITNRGSGGNIIAAMPNLLQQAVPLQGLANNVLSGQTQYVTNVPVALNGNITLLPVNSVSAATLTPS
SQAVTISSSGSQESGSQPVTSGTTISSASLVSSQASSSSFFTNANSYSTTTTTSNMGIMNFTTSGSSGTNSQGQTPQRVSGLQGSDALNI
QQNQTSGGSLQAGQQKEGEQNQQTQQQQILIQPQLVQGGQALQALQAAPLSGQTFTTQAISQETLQNLQLQAVPNSGPIIIRTPTVGPNG
QVSWQTLQLQNLQVQNPQAQTITLAPMQGVSLGQTSSSNTTLTPIASAASIPAGTVTVNAAQLSSMPGLQTINLSALGTSGIQVHPIQGL
PLAIANAPGDHGAQLGLHGAGGDGIHDDTAGGEEGENSPDAQPQAGRRTRREACTCPYCKDSEGRGSGDPGKKKQHICHIQGCGKVYGKT
SHLRAHLRWHTGERPFMCTWSYCGKRFTRSDELQRHKRTHTGEKKFACPECPKRFMRSDHLSKHIKTHQNKKGGPGVALSVGTLPLDSGA

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Fusion Gene PPI Analysis for C12orf76-SP1


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 C12orf76-SP1


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 C12orf76-SP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSP1C0036341Schizophrenia3PSYGENET
TgeneSP1C0007114Malignant neoplasm of skin1CTD_human
TgeneSP1C0007621Neoplastic Cell Transformation1CTD_human
TgeneSP1C0020456Hyperglycemia1CTD_human
TgeneSP1C0027626Neoplasm Invasiveness1CTD_human
TgeneSP1C0027627Neoplasm Metastasis1CTD_human
TgeneSP1C0033975Psychotic Disorders1PSYGENET
TgeneSP1C0037286Skin Neoplasms1CTD_human
TgeneSP1C0221765Chronic schizophrenia1PSYGENET
TgeneSP1C0349204Nonorganic psychosis1PSYGENET
TgeneSP1C1855520Hyperglycemia, Postprandial1CTD_human