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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:C12orf57-HABP4 (FusionGDB2 ID:HG113246TG22927)

Fusion Gene Summary for C12orf57-HABP4

check button Fusion gene summary
Fusion gene informationFusion gene name: C12orf57-HABP4
Fusion gene ID: hg113246tg22927
HgeneTgene
Gene symbol

C12orf57

HABP4

Gene ID

113246

22927

Gene namechromosome 12 open reading frame 57hyaluronan binding protein 4
SynonymsC10|GRCC10IHABP-4|IHABP4|Ki-1/57|SERBP1L
Cytomap('C12orf57')('HABP4')

12p13.31

9q22.32

Type of geneprotein-codingprotein-coding
Descriptionprotein C10gene rich cluster C10likely ortholog of mouse gene rich cluster, C10intracellular hyaluronan-binding protein 4chromodomain helicase DNA binding protein 3 interacting proteinintracellular antigen detected by monoclonal antibody Ki-1ki-1/57 intracellular antigen
Modification date2020032020200313
UniProtAcc.

Q5JVS0

Ensembl transtripts involved in fusion geneENST00000229281, ENST00000537087, 
ENST00000544681, ENST00000540506, 
ENST00000542222, 
Fusion gene scores* DoF score4 X 2 X 2=168 X 8 X 5=320
# samples 49
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C12orf57 [Title/Abstract] AND HABP4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC12orf57(7053336)-HABP4(99220660), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneHABP4

GO:0030578

PML body organization

28695742

TgeneHABP4

GO:0043392

negative regulation of DNA binding

15862299


check buttonFusion gene breakpoints across C12orf57 (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 HABP4 (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
ChimerDB4Non-Cancer265NC12orf57chr12

7053336

+HABP4chr9

99220660

+


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Fusion Gene ORF analysis for C12orf57-HABP4

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
5CDS-intronENST00000229281ENST00000466976C12orf57chr12

7053336

+HABP4chr9

99220660

+
5CDS-intronENST00000537087ENST00000466976C12orf57chr12

7053336

+HABP4chr9

99220660

+
5CDS-intronENST00000544681ENST00000466976C12orf57chr12

7053336

+HABP4chr9

99220660

+
5UTR-3CDSENST00000540506ENST00000375249C12orf57chr12

7053336

+HABP4chr9

99220660

+
5UTR-3CDSENST00000540506ENST00000375251C12orf57chr12

7053336

+HABP4chr9

99220660

+
5UTR-intronENST00000540506ENST00000466976C12orf57chr12

7053336

+HABP4chr9

99220660

+
In-frameENST00000229281ENST00000375249C12orf57chr12

7053336

+HABP4chr9

99220660

+
In-frameENST00000229281ENST00000375251C12orf57chr12

7053336

+HABP4chr9

99220660

+
In-frameENST00000537087ENST00000375249C12orf57chr12

7053336

+HABP4chr9

99220660

+
In-frameENST00000537087ENST00000375251C12orf57chr12

7053336

+HABP4chr9

99220660

+
In-frameENST00000544681ENST00000375249C12orf57chr12

7053336

+HABP4chr9

99220660

+
In-frameENST00000544681ENST00000375251C12orf57chr12

7053336

+HABP4chr9

99220660

+
intron-3CDSENST00000542222ENST00000375249C12orf57chr12

7053336

+HABP4chr9

99220660

+
intron-3CDSENST00000542222ENST00000375251C12orf57chr12

7053336

+HABP4chr9

99220660

+
intron-intronENST00000542222ENST00000466976C12orf57chr12

7053336

+HABP4chr9

99220660

+

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)
ENST00000544681C12orf57chr127053336+ENST00000375251HABP4chr999220660+2233357305934209
ENST00000544681C12orf57chr127053336+ENST00000375249HABP4chr999220660+25483573051249314
ENST00000537087C12orf57chr127053336+ENST00000375251HABP4chr999220660+2216340288917209
ENST00000537087C12orf57chr127053336+ENST00000375249HABP4chr999220660+25313402881232314
ENST00000229281C12orf57chr127053336+ENST00000375251HABP4chr999220660+202715199728209
ENST00000229281C12orf57chr127053336+ENST00000375249HABP4chr999220660+2342151991043314

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
ENST00000544681ENST00000375251C12orf57chr127053336+HABP4chr999220660+0.0020369070.9979631
ENST00000544681ENST00000375249C12orf57chr127053336+HABP4chr999220660+0.0006662690.9993337
ENST00000537087ENST00000375251C12orf57chr127053336+HABP4chr999220660+0.0017910020.998209
ENST00000537087ENST00000375249C12orf57chr127053336+HABP4chr999220660+0.0006531980.9993468
ENST00000229281ENST00000375251C12orf57chr127053336+HABP4chr999220660+0.0018141680.9981858
ENST00000229281ENST00000375249C12orf57chr127053336+HABP4chr999220660+0.0007281430.9992718

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Fusion Genomic Features for C12orf57-HABP4


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)
C12orf57chr127053336+HABP4chr999220660+9.03E-060.99999094
C12orf57chr127053336+HABP4chr999220660+9.03E-060.99999094

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

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

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Fusion Protein Features for C12orf57-HABP4


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/chr12:7053336/chr9:99220660)
- 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
.HABP4

Q5JVS0

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: RNA-binding protein that plays a role in the regulation of transcription, pre-mRNA splicing and mRNA translation (PubMed:14699138, PubMed:16455055, PubMed:19523114, PubMed:21771594). Negatively regulates DNA-binding activity of the transcription factor MEF2C in myocardial cells in response to mechanical stress (By similarity). Plays a role in pre-mRNA splicing regulation (PubMed:19523114). Binds (via C-terminus) to poly(U) RNA (PubMed:19523114). Involved in mRNA translation regulation, probably at the initiation step (PubMed:21771594). Seems to play a role in PML-nuclear bodies formation (PubMed:28695742). {ECO:0000250|UniProtKB:A1L1K8, ECO:0000269|PubMed:14699138, ECO:0000269|PubMed:16455055, ECO:0000269|PubMed:19523114, ECO:0000269|PubMed:21771594, ECO:0000269|PubMed:28695742}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneHABP4chr12:7053336chr9:99220660ENST000003752490840_64116414.0Coiled coilOntology_term=ECO:0000255
TgeneHABP4chr12:7053336chr9:99220660ENST000003752510540_64116309.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for C12orf57-HABP4


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.
>10865_10865_1_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000229281_HABP4_chr9_99220660_ENST00000375249_length(transcript)=2342nt_BP=151nt
CTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCATTTACCTCCGCTGAACCTAGAGCTTC
AGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGCCAGAAGCGGACTCCTAGAAGAGGGGAG
CAGCAAGGATGGAATGACAGCCGTGGGCCGGAGGGGATGCTCGAAAGAGCTGAGCGGAGATCCTACAGGGAATACCGACCCTATGAGACA
GAGAGGCAGGCAGACTTCACAGCTGAGAAGTTTCCAGATGAAAAACCAGGTGATAGGTTTGATCGAGACAGACCGTTGAGAGGACGTGGA
GGCCCGAGAGGGGGTATGCGCGGCAGAGGCAGAGGTGGCCCTGGGAACAGAGTTTTTGACGCTTTTGACCAGAGAGGAAAGCGAGAATTT
GAAAGATATGGTGGGAATGACAAAATAGCAGTCAGAACTGAAGACAACATGGGTGGATGTGGAGTTCGAACCTGGGGATCGGGTAAAGAT
ACCAGTGATGTGGAGCCAACTGCACCGATGGAGGAACCCACAGTGGTGGAGGAGTCCCAGGGCACCCCGGAAGAGGAGTCTCCAGCCAAA
GTTCCTGAGTTGGAGGTAGAAGAAGAAACCCAAGTTCAAGAGATGACTTTAGATGAGTGGAAAAATCTTCAAGAACAGACCAGACCAAAG
CCTGAGTTTAACATCCGGAAACCAGAATCCACTGTTCCTTCCAAAGCCGTGGTGATTCACAAGTCAAAATACAGAGATGATATGGTAAAA
GATGACTATGAGGACGATTCCCATGTTTTCCGGAAACCCGCCAATGACATCACATCCCAGCTGGAGATTAATTTTGGTAACCTCCCTCGT
CCTGGGCGTGGAGCCAGAGGAGGCACCCGGGGAGGCCGGGGAAGGATCAGGAGGGCAGAGAACTATGGACCCAGAGCAGAAGTGGTGATG
CAAGATGTTGCCCCCAACCCAGATGACCCGGAAGATTTCCCTGCGCTGTCTTGAAAGAGCCCTGTTTCCCAGCACCGCGGAGCTGCACTG
CACACCTGTGGGGAGACTTTTCCAGCTGGGCCAAGGGAGTCAGACTCTAAGAACAATAGATGTTGCTTTTCCCGTGTCATGTAAATTTGT
TGCACTTTTTTGGGCTGAGCTGTTAGAGGGGCTTCTCCAGAGGCTCGAGAGCAGGCCATTTCCCAAGAAGATGAAGAATGGTGACTGTGT
TTTTATTGAAGGAATTTCAAATGAAGAATAATGTTTAAAATGTGTATATAGAGATAGTATAGACTCCTCCGCGGAAGCATGGAGGGAAAG
GAGGTTGTAAAATAGACTCCATGGAGACTCTTAGGAAGCAGTAGATTCCCGGGGGCTGTGCCTTTAGCGTTAGAGGAAACACATAGAGCT
GGAACTGTTAATGGAAAGCAGTCACAGCTGAGTTTTCGGAGACCAAGAAATTAAAATACAATTGCACTTACTGTTTACTTGTAAATGTTA
TCTTCTCTCCTGGAATATTTTGAGTTCTGGTTTTCACTTAACCAATCATTTAAAAATCGCTATTGTGTAGCCACTGGCCACCACTCTGTG
ACACAGAATCAGAGAAAGCGTTGATTTTTAATGGTGATTTAAACTACCTCGTGGTTTCTGTGTGTGTGCACACACACATCTAGTGTTTGG
GTGGTTTTTAGGAAGAATATTAAGTATGTGACTTCAAAAACCATGTTATTTAACCTGCCAATCAAATGGAAAGGGATCATGGCAAAAGCA
AATACCGCATCCTTTTCTTCCGCAGAACTAGAGTCAGAGTTCGGCAGCTGCGTACAAAGGCCTCTGCCCTCGGCTTGAGCAAAAGTTGTA
AATAACTAGTATTTATTAAGCACTTATAAGCAGTTTTTCTCACTTAGTCCTGGCTCCAGTTCTAGAGTTCCTCTTTATTGCTTTTGGTGA
AAGTTTGGGGTTGGGGGTACACCTCAGAGGTTCAGTAATTCACCTGGAGTCCCACCCTGAACAGAGCTGGACCCAGAGCCACACACGCCC
GGGAACACACACTGTGCTGGGGAGGAAGTGGGCCTAGGAGGGCCTGCAGGTCCAGGCAGCTGTAGAGCTGCTAGAAGCTGGGGTGTTGCT
CTCCCCGCTTTCTCATAGACACAGAGGTACTGTCTGCCTGTTGTCACACAGTTCATATGCTCGCTTGAGATGGAATCTGAACCTTGGTCC
CAGGATCTGTGCTTTTTCCCACTTTGCCACACTGTCTAAGGTGGCTTTGAACTGGAACCCAAGTGCAAATAAAGGTTGGTATTCGCTCCT

>10865_10865_1_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000229281_HABP4_chr9_99220660_ENST00000375249_length(amino acids)=314AA_BP=17
MASASTQPAALSAEQAKGQKRTPRRGEQQGWNDSRGPEGMLERAERRSYREYRPYETERQADFTAEKFPDEKPGDRFDRDRPLRGRGGPR
GGMRGRGRGGPGNRVFDAFDQRGKREFERYGGNDKIAVRTEDNMGGCGVRTWGSGKDTSDVEPTAPMEEPTVVEESQGTPEEESPAKVPE
LEVEEETQVQEMTLDEWKNLQEQTRPKPEFNIRKPESTVPSKAVVIHKSKYRDDMVKDDYEDDSHVFRKPANDITSQLEINFGNLPRPGR

--------------------------------------------------------------
>10865_10865_2_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000229281_HABP4_chr9_99220660_ENST00000375251_length(transcript)=2027nt_BP=151nt
CTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCATTTACCTCCGCTGAACCTAGAGCTTC
AGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGCCAGAAGCGGACTCCTAGAAGAGGGGAG
CAGCAAGGATGGAATGACAGCCGTGGGCCGGAGGGGATGCTCGAAAGAGCTGAGCGGAGATCCTACAGGGAATACCGACCCTATGAGACA
GAGAGGCAGGCAGACTTCACAGCTGAGAAGTTTCCAGATGAAAAAGTTCCTGAGTTGGAGGTAGAAGAAGAAACCCAAGTTCAAGAGATG
ACTTTAGATGAGTGGAAAAATCTTCAAGAACAGACCAGACCAAAGCCTGAGTTTAACATCCGGAAACCAGAATCCACTGTTCCTTCCAAA
GCCGTGGTGATTCACAAGTCAAAATACAGAGATGATATGGTAAAAGATGACTATGAGGACGATTCCCATGTTTTCCGGAAACCCGCCAAT
GACATCACATCCCAGCTGGAGATTAATTTTGGTAACCTCCCTCGTCCTGGGCGTGGAGCCAGAGGAGGCACCCGGGGAGGCCGGGGAAGG
ATCAGGAGGGCAGAGAACTATGGACCCAGAGCAGAAGTGGTGATGCAAGATGTTGCCCCCAACCCAGATGACCCGGAAGATTTCCCTGCG
CTGTCTTGAAAGAGCCCTGTTTCCCAGCACCGCGGAGCTGCACTGCACACCTGTGGGGAGACTTTTCCAGCTGGGCCAAGGGAGTCAGAC
TCTAAGAACAATAGATGTTGCTTTTCCCGTGTCATGTAAATTTGTTGCACTTTTTTGGGCTGAGCTGTTAGAGGGGCTTCTCCAGAGGCT
CGAGAGCAGGCCATTTCCCAAGAAGATGAAGAATGGTGACTGTGTTTTTATTGAAGGAATTTCAAATGAAGAATAATGTTTAAAATGTGT
ATATAGAGATAGTATAGACTCCTCCGCGGAAGCATGGAGGGAAAGGAGGTTGTAAAATAGACTCCATGGAGACTCTTAGGAAGCAGTAGA
TTCCCGGGGGCTGTGCCTTTAGCGTTAGAGGAAACACATAGAGCTGGAACTGTTAATGGAAAGCAGTCACAGCTGAGTTTTCGGAGACCA
AGAAATTAAAATACAATTGCACTTACTGTTTACTTGTAAATGTTATCTTCTCTCCTGGAATATTTTGAGTTCTGGTTTTCACTTAACCAA
TCATTTAAAAATCGCTATTGTGTAGCCACTGGCCACCACTCTGTGACACAGAATCAGAGAAAGCGTTGATTTTTAATGGTGATTTAAACT
ACCTCGTGGTTTCTGTGTGTGTGCACACACACATCTAGTGTTTGGGTGGTTTTTAGGAAGAATATTAAGTATGTGACTTCAAAAACCATG
TTATTTAACCTGCCAATCAAATGGAAAGGGATCATGGCAAAAGCAAATACCGCATCCTTTTCTTCCGCAGAACTAGAGTCAGAGTTCGGC
AGCTGCGTACAAAGGCCTCTGCCCTCGGCTTGAGCAAAAGTTGTAAATAACTAGTATTTATTAAGCACTTATAAGCAGTTTTTCTCACTT
AGTCCTGGCTCCAGTTCTAGAGTTCCTCTTTATTGCTTTTGGTGAAAGTTTGGGGTTGGGGGTACACCTCAGAGGTTCAGTAATTCACCT
GGAGTCCCACCCTGAACAGAGCTGGACCCAGAGCCACACACGCCCGGGAACACACACTGTGCTGGGGAGGAAGTGGGCCTAGGAGGGCCT
GCAGGTCCAGGCAGCTGTAGAGCTGCTAGAAGCTGGGGTGTTGCTCTCCCCGCTTTCTCATAGACACAGAGGTACTGTCTGCCTGTTGTC
ACACAGTTCATATGCTCGCTTGAGATGGAATCTGAACCTTGGTCCCAGGATCTGTGCTTTTTCCCACTTTGCCACACTGTCTAAGGTGGC

>10865_10865_2_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000229281_HABP4_chr9_99220660_ENST00000375251_length(amino acids)=209AA_BP=17
MASASTQPAALSAEQAKGQKRTPRRGEQQGWNDSRGPEGMLERAERRSYREYRPYETERQADFTAEKFPDEKVPELEVEEETQVQEMTLD
EWKNLQEQTRPKPEFNIRKPESTVPSKAVVIHKSKYRDDMVKDDYEDDSHVFRKPANDITSQLEINFGNLPRPGRGARGGTRGGRGRIRR

--------------------------------------------------------------
>10865_10865_3_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000537087_HABP4_chr9_99220660_ENST00000375249_length(transcript)=2531nt_BP=340nt
AGAATTTGTCTAGTAGGCTTTCTGGCTTTTTACCGGAAAGCCCCTCTTATGATGTTTGTTGCCAATGATAGATTGTTTTCACTGTGCAAA
AATTATGGGTAGTTTTGGTGGTCTTGATGCAGTTGTAAGCTTGGGGTATGAAGGTTTGGGCCACGCCTGGGCGCTTCCGGCTGCGCCGGA
TGCTGTTTCCTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCATTTACCTCCGCTGAACC
TAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGCCAGAAGCGGACTCCTAGA
AGAGGGGAGCAGCAAGGATGGAATGACAGCCGTGGGCCGGAGGGGATGCTCGAAAGAGCTGAGCGGAGATCCTACAGGGAATACCGACCC
TATGAGACAGAGAGGCAGGCAGACTTCACAGCTGAGAAGTTTCCAGATGAAAAACCAGGTGATAGGTTTGATCGAGACAGACCGTTGAGA
GGACGTGGAGGCCCGAGAGGGGGTATGCGCGGCAGAGGCAGAGGTGGCCCTGGGAACAGAGTTTTTGACGCTTTTGACCAGAGAGGAAAG
CGAGAATTTGAAAGATATGGTGGGAATGACAAAATAGCAGTCAGAACTGAAGACAACATGGGTGGATGTGGAGTTCGAACCTGGGGATCG
GGTAAAGATACCAGTGATGTGGAGCCAACTGCACCGATGGAGGAACCCACAGTGGTGGAGGAGTCCCAGGGCACCCCGGAAGAGGAGTCT
CCAGCCAAAGTTCCTGAGTTGGAGGTAGAAGAAGAAACCCAAGTTCAAGAGATGACTTTAGATGAGTGGAAAAATCTTCAAGAACAGACC
AGACCAAAGCCTGAGTTTAACATCCGGAAACCAGAATCCACTGTTCCTTCCAAAGCCGTGGTGATTCACAAGTCAAAATACAGAGATGAT
ATGGTAAAAGATGACTATGAGGACGATTCCCATGTTTTCCGGAAACCCGCCAATGACATCACATCCCAGCTGGAGATTAATTTTGGTAAC
CTCCCTCGTCCTGGGCGTGGAGCCAGAGGAGGCACCCGGGGAGGCCGGGGAAGGATCAGGAGGGCAGAGAACTATGGACCCAGAGCAGAA
GTGGTGATGCAAGATGTTGCCCCCAACCCAGATGACCCGGAAGATTTCCCTGCGCTGTCTTGAAAGAGCCCTGTTTCCCAGCACCGCGGA
GCTGCACTGCACACCTGTGGGGAGACTTTTCCAGCTGGGCCAAGGGAGTCAGACTCTAAGAACAATAGATGTTGCTTTTCCCGTGTCATG
TAAATTTGTTGCACTTTTTTGGGCTGAGCTGTTAGAGGGGCTTCTCCAGAGGCTCGAGAGCAGGCCATTTCCCAAGAAGATGAAGAATGG
TGACTGTGTTTTTATTGAAGGAATTTCAAATGAAGAATAATGTTTAAAATGTGTATATAGAGATAGTATAGACTCCTCCGCGGAAGCATG
GAGGGAAAGGAGGTTGTAAAATAGACTCCATGGAGACTCTTAGGAAGCAGTAGATTCCCGGGGGCTGTGCCTTTAGCGTTAGAGGAAACA
CATAGAGCTGGAACTGTTAATGGAAAGCAGTCACAGCTGAGTTTTCGGAGACCAAGAAATTAAAATACAATTGCACTTACTGTTTACTTG
TAAATGTTATCTTCTCTCCTGGAATATTTTGAGTTCTGGTTTTCACTTAACCAATCATTTAAAAATCGCTATTGTGTAGCCACTGGCCAC
CACTCTGTGACACAGAATCAGAGAAAGCGTTGATTTTTAATGGTGATTTAAACTACCTCGTGGTTTCTGTGTGTGTGCACACACACATCT
AGTGTTTGGGTGGTTTTTAGGAAGAATATTAAGTATGTGACTTCAAAAACCATGTTATTTAACCTGCCAATCAAATGGAAAGGGATCATG
GCAAAAGCAAATACCGCATCCTTTTCTTCCGCAGAACTAGAGTCAGAGTTCGGCAGCTGCGTACAAAGGCCTCTGCCCTCGGCTTGAGCA
AAAGTTGTAAATAACTAGTATTTATTAAGCACTTATAAGCAGTTTTTCTCACTTAGTCCTGGCTCCAGTTCTAGAGTTCCTCTTTATTGC
TTTTGGTGAAAGTTTGGGGTTGGGGGTACACCTCAGAGGTTCAGTAATTCACCTGGAGTCCCACCCTGAACAGAGCTGGACCCAGAGCCA
CACACGCCCGGGAACACACACTGTGCTGGGGAGGAAGTGGGCCTAGGAGGGCCTGCAGGTCCAGGCAGCTGTAGAGCTGCTAGAAGCTGG
GGTGTTGCTCTCCCCGCTTTCTCATAGACACAGAGGTACTGTCTGCCTGTTGTCACACAGTTCATATGCTCGCTTGAGATGGAATCTGAA
CCTTGGTCCCAGGATCTGTGCTTTTTCCCACTTTGCCACACTGTCTAAGGTGGCTTTGAACTGGAACCCAAGTGCAAATAAAGGTTGGTA

>10865_10865_3_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000537087_HABP4_chr9_99220660_ENST00000375249_length(amino acids)=314AA_BP=17
MASASTQPAALSAEQAKGQKRTPRRGEQQGWNDSRGPEGMLERAERRSYREYRPYETERQADFTAEKFPDEKPGDRFDRDRPLRGRGGPR
GGMRGRGRGGPGNRVFDAFDQRGKREFERYGGNDKIAVRTEDNMGGCGVRTWGSGKDTSDVEPTAPMEEPTVVEESQGTPEEESPAKVPE
LEVEEETQVQEMTLDEWKNLQEQTRPKPEFNIRKPESTVPSKAVVIHKSKYRDDMVKDDYEDDSHVFRKPANDITSQLEINFGNLPRPGR

--------------------------------------------------------------
>10865_10865_4_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000537087_HABP4_chr9_99220660_ENST00000375251_length(transcript)=2216nt_BP=340nt
AGAATTTGTCTAGTAGGCTTTCTGGCTTTTTACCGGAAAGCCCCTCTTATGATGTTTGTTGCCAATGATAGATTGTTTTCACTGTGCAAA
AATTATGGGTAGTTTTGGTGGTCTTGATGCAGTTGTAAGCTTGGGGTATGAAGGTTTGGGCCACGCCTGGGCGCTTCCGGCTGCGCCGGA
TGCTGTTTCCTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCATTTACCTCCGCTGAACC
TAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGCCAGAAGCGGACTCCTAGA
AGAGGGGAGCAGCAAGGATGGAATGACAGCCGTGGGCCGGAGGGGATGCTCGAAAGAGCTGAGCGGAGATCCTACAGGGAATACCGACCC
TATGAGACAGAGAGGCAGGCAGACTTCACAGCTGAGAAGTTTCCAGATGAAAAAGTTCCTGAGTTGGAGGTAGAAGAAGAAACCCAAGTT
CAAGAGATGACTTTAGATGAGTGGAAAAATCTTCAAGAACAGACCAGACCAAAGCCTGAGTTTAACATCCGGAAACCAGAATCCACTGTT
CCTTCCAAAGCCGTGGTGATTCACAAGTCAAAATACAGAGATGATATGGTAAAAGATGACTATGAGGACGATTCCCATGTTTTCCGGAAA
CCCGCCAATGACATCACATCCCAGCTGGAGATTAATTTTGGTAACCTCCCTCGTCCTGGGCGTGGAGCCAGAGGAGGCACCCGGGGAGGC
CGGGGAAGGATCAGGAGGGCAGAGAACTATGGACCCAGAGCAGAAGTGGTGATGCAAGATGTTGCCCCCAACCCAGATGACCCGGAAGAT
TTCCCTGCGCTGTCTTGAAAGAGCCCTGTTTCCCAGCACCGCGGAGCTGCACTGCACACCTGTGGGGAGACTTTTCCAGCTGGGCCAAGG
GAGTCAGACTCTAAGAACAATAGATGTTGCTTTTCCCGTGTCATGTAAATTTGTTGCACTTTTTTGGGCTGAGCTGTTAGAGGGGCTTCT
CCAGAGGCTCGAGAGCAGGCCATTTCCCAAGAAGATGAAGAATGGTGACTGTGTTTTTATTGAAGGAATTTCAAATGAAGAATAATGTTT
AAAATGTGTATATAGAGATAGTATAGACTCCTCCGCGGAAGCATGGAGGGAAAGGAGGTTGTAAAATAGACTCCATGGAGACTCTTAGGA
AGCAGTAGATTCCCGGGGGCTGTGCCTTTAGCGTTAGAGGAAACACATAGAGCTGGAACTGTTAATGGAAAGCAGTCACAGCTGAGTTTT
CGGAGACCAAGAAATTAAAATACAATTGCACTTACTGTTTACTTGTAAATGTTATCTTCTCTCCTGGAATATTTTGAGTTCTGGTTTTCA
CTTAACCAATCATTTAAAAATCGCTATTGTGTAGCCACTGGCCACCACTCTGTGACACAGAATCAGAGAAAGCGTTGATTTTTAATGGTG
ATTTAAACTACCTCGTGGTTTCTGTGTGTGTGCACACACACATCTAGTGTTTGGGTGGTTTTTAGGAAGAATATTAAGTATGTGACTTCA
AAAACCATGTTATTTAACCTGCCAATCAAATGGAAAGGGATCATGGCAAAAGCAAATACCGCATCCTTTTCTTCCGCAGAACTAGAGTCA
GAGTTCGGCAGCTGCGTACAAAGGCCTCTGCCCTCGGCTTGAGCAAAAGTTGTAAATAACTAGTATTTATTAAGCACTTATAAGCAGTTT
TTCTCACTTAGTCCTGGCTCCAGTTCTAGAGTTCCTCTTTATTGCTTTTGGTGAAAGTTTGGGGTTGGGGGTACACCTCAGAGGTTCAGT
AATTCACCTGGAGTCCCACCCTGAACAGAGCTGGACCCAGAGCCACACACGCCCGGGAACACACACTGTGCTGGGGAGGAAGTGGGCCTA
GGAGGGCCTGCAGGTCCAGGCAGCTGTAGAGCTGCTAGAAGCTGGGGTGTTGCTCTCCCCGCTTTCTCATAGACACAGAGGTACTGTCTG
CCTGTTGTCACACAGTTCATATGCTCGCTTGAGATGGAATCTGAACCTTGGTCCCAGGATCTGTGCTTTTTCCCACTTTGCCACACTGTC

>10865_10865_4_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000537087_HABP4_chr9_99220660_ENST00000375251_length(amino acids)=209AA_BP=17
MASASTQPAALSAEQAKGQKRTPRRGEQQGWNDSRGPEGMLERAERRSYREYRPYETERQADFTAEKFPDEKVPELEVEEETQVQEMTLD
EWKNLQEQTRPKPEFNIRKPESTVPSKAVVIHKSKYRDDMVKDDYEDDSHVFRKPANDITSQLEINFGNLPRPGRGARGGTRGGRGRIRR

--------------------------------------------------------------
>10865_10865_5_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000544681_HABP4_chr9_99220660_ENST00000375249_length(transcript)=2548nt_BP=357nt
AGTGTTACAGCTCTTTTAGAATTTGTCTAGTAGGCTTTCTGGCTTTTTACCGGAAAGCCCCTCTTATGATGTTTGTTGCCAATGATAGAT
TGTTTTCACTGTGCAAAAATTATGGGTAGTTTTGGTGGTCTTGATGCAGTTGTAAGCTTGGGGTATGAAGGTTTGGGCCACGCCTGGGCG
CTTCCGGCTGCGCCGGATGCTGTTTCCTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCA
TTTACCTCCGCTGAACCTAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGCC
AGAAGCGGACTCCTAGAAGAGGGGAGCAGCAAGGATGGAATGACAGCCGTGGGCCGGAGGGGATGCTCGAAAGAGCTGAGCGGAGATCCT
ACAGGGAATACCGACCCTATGAGACAGAGAGGCAGGCAGACTTCACAGCTGAGAAGTTTCCAGATGAAAAACCAGGTGATAGGTTTGATC
GAGACAGACCGTTGAGAGGACGTGGAGGCCCGAGAGGGGGTATGCGCGGCAGAGGCAGAGGTGGCCCTGGGAACAGAGTTTTTGACGCTT
TTGACCAGAGAGGAAAGCGAGAATTTGAAAGATATGGTGGGAATGACAAAATAGCAGTCAGAACTGAAGACAACATGGGTGGATGTGGAG
TTCGAACCTGGGGATCGGGTAAAGATACCAGTGATGTGGAGCCAACTGCACCGATGGAGGAACCCACAGTGGTGGAGGAGTCCCAGGGCA
CCCCGGAAGAGGAGTCTCCAGCCAAAGTTCCTGAGTTGGAGGTAGAAGAAGAAACCCAAGTTCAAGAGATGACTTTAGATGAGTGGAAAA
ATCTTCAAGAACAGACCAGACCAAAGCCTGAGTTTAACATCCGGAAACCAGAATCCACTGTTCCTTCCAAAGCCGTGGTGATTCACAAGT
CAAAATACAGAGATGATATGGTAAAAGATGACTATGAGGACGATTCCCATGTTTTCCGGAAACCCGCCAATGACATCACATCCCAGCTGG
AGATTAATTTTGGTAACCTCCCTCGTCCTGGGCGTGGAGCCAGAGGAGGCACCCGGGGAGGCCGGGGAAGGATCAGGAGGGCAGAGAACT
ATGGACCCAGAGCAGAAGTGGTGATGCAAGATGTTGCCCCCAACCCAGATGACCCGGAAGATTTCCCTGCGCTGTCTTGAAAGAGCCCTG
TTTCCCAGCACCGCGGAGCTGCACTGCACACCTGTGGGGAGACTTTTCCAGCTGGGCCAAGGGAGTCAGACTCTAAGAACAATAGATGTT
GCTTTTCCCGTGTCATGTAAATTTGTTGCACTTTTTTGGGCTGAGCTGTTAGAGGGGCTTCTCCAGAGGCTCGAGAGCAGGCCATTTCCC
AAGAAGATGAAGAATGGTGACTGTGTTTTTATTGAAGGAATTTCAAATGAAGAATAATGTTTAAAATGTGTATATAGAGATAGTATAGAC
TCCTCCGCGGAAGCATGGAGGGAAAGGAGGTTGTAAAATAGACTCCATGGAGACTCTTAGGAAGCAGTAGATTCCCGGGGGCTGTGCCTT
TAGCGTTAGAGGAAACACATAGAGCTGGAACTGTTAATGGAAAGCAGTCACAGCTGAGTTTTCGGAGACCAAGAAATTAAAATACAATTG
CACTTACTGTTTACTTGTAAATGTTATCTTCTCTCCTGGAATATTTTGAGTTCTGGTTTTCACTTAACCAATCATTTAAAAATCGCTATT
GTGTAGCCACTGGCCACCACTCTGTGACACAGAATCAGAGAAAGCGTTGATTTTTAATGGTGATTTAAACTACCTCGTGGTTTCTGTGTG
TGTGCACACACACATCTAGTGTTTGGGTGGTTTTTAGGAAGAATATTAAGTATGTGACTTCAAAAACCATGTTATTTAACCTGCCAATCA
AATGGAAAGGGATCATGGCAAAAGCAAATACCGCATCCTTTTCTTCCGCAGAACTAGAGTCAGAGTTCGGCAGCTGCGTACAAAGGCCTC
TGCCCTCGGCTTGAGCAAAAGTTGTAAATAACTAGTATTTATTAAGCACTTATAAGCAGTTTTTCTCACTTAGTCCTGGCTCCAGTTCTA
GAGTTCCTCTTTATTGCTTTTGGTGAAAGTTTGGGGTTGGGGGTACACCTCAGAGGTTCAGTAATTCACCTGGAGTCCCACCCTGAACAG
AGCTGGACCCAGAGCCACACACGCCCGGGAACACACACTGTGCTGGGGAGGAAGTGGGCCTAGGAGGGCCTGCAGGTCCAGGCAGCTGTA
GAGCTGCTAGAAGCTGGGGTGTTGCTCTCCCCGCTTTCTCATAGACACAGAGGTACTGTCTGCCTGTTGTCACACAGTTCATATGCTCGC
TTGAGATGGAATCTGAACCTTGGTCCCAGGATCTGTGCTTTTTCCCACTTTGCCACACTGTCTAAGGTGGCTTTGAACTGGAACCCAAGT

>10865_10865_5_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000544681_HABP4_chr9_99220660_ENST00000375249_length(amino acids)=314AA_BP=17
MASASTQPAALSAEQAKGQKRTPRRGEQQGWNDSRGPEGMLERAERRSYREYRPYETERQADFTAEKFPDEKPGDRFDRDRPLRGRGGPR
GGMRGRGRGGPGNRVFDAFDQRGKREFERYGGNDKIAVRTEDNMGGCGVRTWGSGKDTSDVEPTAPMEEPTVVEESQGTPEEESPAKVPE
LEVEEETQVQEMTLDEWKNLQEQTRPKPEFNIRKPESTVPSKAVVIHKSKYRDDMVKDDYEDDSHVFRKPANDITSQLEINFGNLPRPGR

--------------------------------------------------------------
>10865_10865_6_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000544681_HABP4_chr9_99220660_ENST00000375251_length(transcript)=2233nt_BP=357nt
AGTGTTACAGCTCTTTTAGAATTTGTCTAGTAGGCTTTCTGGCTTTTTACCGGAAAGCCCCTCTTATGATGTTTGTTGCCAATGATAGAT
TGTTTTCACTGTGCAAAAATTATGGGTAGTTTTGGTGGTCTTGATGCAGTTGTAAGCTTGGGGTATGAAGGTTTGGGCCACGCCTGGGCG
CTTCCGGCTGCGCCGGATGCTGTTTCCTTTCCGCTCCCAGGGGCGTTGGGAACGGTTGTAGGACGTGGCTCTTTATTCGTGAGTTTTCCA
TTTACCTCCGCTGAACCTAGAGCTTCAGACGCCCTATGGCGTCCGCCTCGACCCAACCGGCGGCCTTGAGCGCTGAGCAAGCAAAGGGCC
AGAAGCGGACTCCTAGAAGAGGGGAGCAGCAAGGATGGAATGACAGCCGTGGGCCGGAGGGGATGCTCGAAAGAGCTGAGCGGAGATCCT
ACAGGGAATACCGACCCTATGAGACAGAGAGGCAGGCAGACTTCACAGCTGAGAAGTTTCCAGATGAAAAAGTTCCTGAGTTGGAGGTAG
AAGAAGAAACCCAAGTTCAAGAGATGACTTTAGATGAGTGGAAAAATCTTCAAGAACAGACCAGACCAAAGCCTGAGTTTAACATCCGGA
AACCAGAATCCACTGTTCCTTCCAAAGCCGTGGTGATTCACAAGTCAAAATACAGAGATGATATGGTAAAAGATGACTATGAGGACGATT
CCCATGTTTTCCGGAAACCCGCCAATGACATCACATCCCAGCTGGAGATTAATTTTGGTAACCTCCCTCGTCCTGGGCGTGGAGCCAGAG
GAGGCACCCGGGGAGGCCGGGGAAGGATCAGGAGGGCAGAGAACTATGGACCCAGAGCAGAAGTGGTGATGCAAGATGTTGCCCCCAACC
CAGATGACCCGGAAGATTTCCCTGCGCTGTCTTGAAAGAGCCCTGTTTCCCAGCACCGCGGAGCTGCACTGCACACCTGTGGGGAGACTT
TTCCAGCTGGGCCAAGGGAGTCAGACTCTAAGAACAATAGATGTTGCTTTTCCCGTGTCATGTAAATTTGTTGCACTTTTTTGGGCTGAG
CTGTTAGAGGGGCTTCTCCAGAGGCTCGAGAGCAGGCCATTTCCCAAGAAGATGAAGAATGGTGACTGTGTTTTTATTGAAGGAATTTCA
AATGAAGAATAATGTTTAAAATGTGTATATAGAGATAGTATAGACTCCTCCGCGGAAGCATGGAGGGAAAGGAGGTTGTAAAATAGACTC
CATGGAGACTCTTAGGAAGCAGTAGATTCCCGGGGGCTGTGCCTTTAGCGTTAGAGGAAACACATAGAGCTGGAACTGTTAATGGAAAGC
AGTCACAGCTGAGTTTTCGGAGACCAAGAAATTAAAATACAATTGCACTTACTGTTTACTTGTAAATGTTATCTTCTCTCCTGGAATATT
TTGAGTTCTGGTTTTCACTTAACCAATCATTTAAAAATCGCTATTGTGTAGCCACTGGCCACCACTCTGTGACACAGAATCAGAGAAAGC
GTTGATTTTTAATGGTGATTTAAACTACCTCGTGGTTTCTGTGTGTGTGCACACACACATCTAGTGTTTGGGTGGTTTTTAGGAAGAATA
TTAAGTATGTGACTTCAAAAACCATGTTATTTAACCTGCCAATCAAATGGAAAGGGATCATGGCAAAAGCAAATACCGCATCCTTTTCTT
CCGCAGAACTAGAGTCAGAGTTCGGCAGCTGCGTACAAAGGCCTCTGCCCTCGGCTTGAGCAAAAGTTGTAAATAACTAGTATTTATTAA
GCACTTATAAGCAGTTTTTCTCACTTAGTCCTGGCTCCAGTTCTAGAGTTCCTCTTTATTGCTTTTGGTGAAAGTTTGGGGTTGGGGGTA
CACCTCAGAGGTTCAGTAATTCACCTGGAGTCCCACCCTGAACAGAGCTGGACCCAGAGCCACACACGCCCGGGAACACACACTGTGCTG
GGGAGGAAGTGGGCCTAGGAGGGCCTGCAGGTCCAGGCAGCTGTAGAGCTGCTAGAAGCTGGGGTGTTGCTCTCCCCGCTTTCTCATAGA
CACAGAGGTACTGTCTGCCTGTTGTCACACAGTTCATATGCTCGCTTGAGATGGAATCTGAACCTTGGTCCCAGGATCTGTGCTTTTTCC

>10865_10865_6_C12orf57-HABP4_C12orf57_chr12_7053336_ENST00000544681_HABP4_chr9_99220660_ENST00000375251_length(amino acids)=209AA_BP=17
MASASTQPAALSAEQAKGQKRTPRRGEQQGWNDSRGPEGMLERAERRSYREYRPYETERQADFTAEKFPDEKVPELEVEEETQVQEMTLD
EWKNLQEQTRPKPEFNIRKPESTVPSKAVVIHKSKYRDDMVKDDYEDDSHVFRKPANDITSQLEINFGNLPRPGRGARGGTRGGRGRIRR

--------------------------------------------------------------

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Fusion Gene PPI Analysis for C12orf57-HABP4


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 C12orf57-HABP4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHABP4Q5JVS0DB08818Hyaluronic acidBinderSmall moleculeApproved|Vet_approved

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Related Diseases for C12orf57-HABP4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC12orf57C1857512Temtamy syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneC12orf57C0020796Profound Mental Retardation1CTD_human
HgeneC12orf57C0025363Mental Retardation, Psychosocial1CTD_human
HgeneC12orf57C0917816Mental deficiency1CTD_human
HgeneC12orf57C3714756Intellectual Disability1CTD_human