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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:C12orf49-SRRM4 (FusionGDB2 ID:10894)

Fusion Gene Summary for C12orf49-SRRM4

check button Fusion gene summary
Fusion gene informationFusion gene name: C12orf49-SRRM4
Fusion gene ID: 10894
HgeneTgene
Gene symbol

C12orf49

SRRM4

Gene ID

79794

84530

Gene namechromosome 12 open reading frame 49serine/arginine repetitive matrix 4
Synonyms-KIAA1853|MU-MB-2.76|nSR100
Cytomap

12q24.22

12q24.23

Type of geneprotein-codingprotein-coding
DescriptionUPF0454 protein C12orf49serine/arginine repetitive matrix protein 4medulloblastoma antigen MU-MB-2.76neural-specific SR-related protein of 100 kDaneural-specific serine/arginine repetitive splicing factor of 100 kDa
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261318, ENST00000548356, 
ENST00000536380, 
ENST00000267260, 
ENST00000537597, 
Fusion gene scores* DoF score8 X 4 X 2=645 X 6 X 4=120
# samples 65
** MAII scorelog2(6/64*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C12orf49 [Title/Abstract] AND SRRM4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC12orf49(117175595)-SRRM4(119600476), # samples:2
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
TgeneSRRM4

GO:0000381

regulation of alternative mRNA splicing, via spliceosome

29961578


check buttonFusion gene breakpoints across C12orf49 (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 SRRM4 (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
ChimerDB4GBMTCGA-06-5856-01AC12orf49chr12

117175595

-SRRM4chr12

119600476

+
ChimerDB4GBMTCGA-06-5856-01AC12orf49chr12

117175595

-SRRM4chr12

119600476

+
ChimerDB4GBMTCGA-06-5856-01AC12orf49chr12

117175595

-SRRM4chr12

119583186

+


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Fusion Gene ORF analysis for C12orf49-SRRM4

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-3UTRENST00000261318ENST00000267260C12orf49chr12

117175595

-SRRM4chr12

119600476

+
5CDS-intronENST00000261318ENST00000537597C12orf49chr12

117175595

-SRRM4chr12

119600476

+
intron-3UTRENST00000548356ENST00000267260C12orf49chr12

117175595

-SRRM4chr12

119600476

+
intron-intronENST00000548356ENST00000537597C12orf49chr12

117175595

-SRRM4chr12

119600476

+
5CDS-3UTRENST00000536380ENST00000267260C12orf49chr12

117175595

-SRRM4chr12

119600476

+
5CDS-intronENST00000536380ENST00000537597C12orf49chr12

117175595

-SRRM4chr12

119600476

+
In-frameENST00000261318ENST00000267260C12orf49chr12

117175595

-SRRM4chr12

119583186

+
5CDS-intronENST00000261318ENST00000537597C12orf49chr12

117175595

-SRRM4chr12

119583186

+
intron-3CDSENST00000548356ENST00000267260C12orf49chr12

117175595

-SRRM4chr12

119583186

+
intron-intronENST00000548356ENST00000537597C12orf49chr12

117175595

-SRRM4chr12

119583186

+
In-frameENST00000536380ENST00000267260C12orf49chr12

117175595

-SRRM4chr12

119583186

+
5CDS-intronENST00000536380ENST00000537597C12orf49chr12

117175595

-SRRM4chr12

119583186

+

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)
ENST00000261318C12orf49chr12117175595-ENST00000267260SRRM4chr12119583186+75902721611336391
ENST00000536380C12orf49chr12117175595-ENST00000267260SRRM4chr12119583186+75982801691344391

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
ENST00000261318ENST00000267260C12orf49chr12117175595-SRRM4chr12119583186+0.198902440.8010976
ENST00000536380ENST00000267260C12orf49chr12117175595-SRRM4chr12119583186+0.197908570.8020914

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Fusion Genomic Features for C12orf49-SRRM4


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)
C12orf49chr12117175594-SRRM4chr12119583185+9.44E-070.99999905
C12orf49chr12117175594-SRRM4chr12119583185+9.44E-070.99999905

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 C12orf49-SRRM4


check button Go to

FGviewer for the breakpoints of chr12:117175595-chr12:119583186

.
- 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
..
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.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.

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
HgeneC12orf49chr12:117175595chr12:119583186ENST00000261318-151_1637.0206.0Topological domainCytoplasmic
HgeneC12orf49chr12:117175595chr12:119583186ENST00000261318-1517_3537.0206.0TransmembraneHelical
TgeneSRRM4chr12:117175595chr12:119583186ENST00000267260713442_598257.0612.0Compositional biasNote=Arg-rich

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC12orf49chr12:117175595chr12:119583186ENST00000261318-15103_13537.0206.0Compositional biasNote=Cys-rich
HgeneC12orf49chr12:117175595chr12:119583186ENST00000261318-1536_20537.0206.0Topological domainLumenal
TgeneSRRM4chr12:117175595chr12:119583186ENST00000267260713109_171257.0612.0Compositional biasNote=Lys-rich
TgeneSRRM4chr12:117175595chr12:119583186ENST00000267260713123_608257.0612.0Compositional biasNote=Ser-rich


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Fusion Gene Sequence for C12orf49-SRRM4


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_ENST00000261318_ENST00000267260_TCGA-06-5856-01A_C12orf49_chr12_117175595_-_SRRM4_chr12_119583186_length(transcript)=7590nt_BP=272nt
GGGCTGCGCCCAAGGCTGCCGGGAGCAGACTGGGCTGCGGGCGGCGGGGCCGGCGCCTGCCTGGAGGGATGGGGCTGCCGGGCGCGTAGG
GGCCATGCCGCCCGGGACCCGGGCCTGCCGCGTTCCGCGCCCCGGCCGCCGCGCCCCACGTCCGCGCCGGGATGGTGAACCTGGCGGCCA
TGGTGTGGCGCCGGCTTCTGCGGAAGAGGTGGGTGCTCGCCCTGGTCTTCGGGCTGTCGCTCGTCTACTTCCTCAGCAGCACCTTCAAGC
AGATCACTGGGTCGGGGTCTGCTGCTGACCTCTTTACCAAAACAGCCAGCCCGCTCACCACCTCGCGAGGACGTTCCCAGGAGTACGACT
CAGGAAATGACACGTCCTCGCCACCCTCCACGCAAACCAGCTCAGCCAGGTCTCGGGGCCAGGAGAAGGGGAGCCCCAGTGGGGGCTTGA
GCAAGAGCCGGGAGCTCAACAGTGGCAACACCTCTGATTCAGGGAACTCCTTCACCACCTCCTCACCCCAGAACAAGGGGGCCATGTTGG
AGAATCTCTCCCCCACCAGCAGGGGCAGAGAGTCAAGGGGATTTCAGTCACCGTGTCTGGAATGTGCCGAAGTGAAGAAGTCCAGTTTGG
TCCCATCCACAGCCCGGAGCTCACCCATGAAAGGGTGTTCCCGCAGCTCCTCCTATGCCAGCACCCGATCCTCCAGTCACTCGTCCCGAT
CCCCAAATCCCAGGGCTTCCCCCAGGTACACCCAAAGCCGATCCACCTCTTCTGAAAAAAGGTCCTACTCCCGCTCTCCCAGCTATTCCT
CCAAGTCTGGCAAGAGGAGCCCGCCCAGCAGAAGCTCTAGGTCCCGCCGCAGCCCTAGCTACTCCCGCTACAGCCCCAGCAGGGAGCGGG
ATCCCAAATACAGTGAGAAGGACTCGCAGCAGCGGGAGCGCGAGCGAGCGCGTCGGAGACGTCGGTCCTACTCGCCTATGAGAAAGCGCC
GGAGAGACTCCCCGAGCCACCTGGAGGCCCGGAGGATAACCAGTGCCCGGAAACGCCCCATCCCCTACTATCGGCCCAGCCCCTCCTCAT
CCGGCAGCCTCAGCAGCACCTCCTCCTGGTACAGCAGCAGCAGTAGCCGCTCGGCCAGCCGCAGCTACTCCCGGAGCCGGAGTCGGAGCC
GGAGCCGGAGACGGAGCCGGACCCGCACGAGCAGCAGCTCTAGCTCCCGCAGCCCTAGTCCGGGCTCCCGCAGCCGGAGCCGGAGCAGGA
GCCGGAGCCGGAGCCGGAGCAGGAGCCAGAGCCGGAGCTACAGCTCAGCAGACAGCTACTCCAGCACGAGGCGCTAAGTGCCCCTGAGCC
AGCTGCCCGTGGGGGCCCCTTCGCGCTGCCAGCCTCCCCCAACCACCTGCCCTCCCCGCCTTCTTGGTGACAAATAGTGAGGGCTCCTAT
ACCTTGTCCTTCCTGCTTGCCTAGGGGAAGAGGAGAAGAGGGTAAGGGGGCTTCACTCTCTAGATCAGCCTGCTAGGAGCCTCTACCAGC
ATCATCCTGGGGCCCAGCTCAGGCCTGGGCATATGGAAAGAACCATCATCTTGTGGCACAAAAAAAGAAGAAAGAAAAGAAAACTTCAAG
GTTTTGTGAGAAGCAATGGGTCTGTGACTCAAAAATTGAGCCCTGGCCAGGAAAATGTGGAGACAGTTCTTCTCCTCCACTGCTCACAGG
AGGCCCGTGGTAATTCTCCCCACCTCCCCGGATGCCCCACTAGTCCAACTTCATGGCTGCACGTGGATGGACCCCCATGTCTGAGAGGGG
TGAAAGAGGAGACCAATGGCAGTTCAGGTTCAAGATAACGGGGTCAGGCCTTTAACTTCCTCAAACAGGCCCAAGCAAAGGCTGGAAGAC
ATTTGGGTCCTAGAAGAAGGGATATCCTTGAATACCAGATGGGGACGTTTGACTTGGTGGGAGGTGTCAGGAGATAGGAGTTGGTTAAGA
TGATAGATAGAAAAACGGAAGGGTTCAGCTGCTGCTCCCAATACCTCAGCATGGTAAGGGGACAGAGCCCAGCAGATCCCAGCTGTGAAG
AGGCCACTGCATGGCTGACACAAAACACCTCTTGGCCATTCACAGGGGCCCTGCAACCTCACGAGAAAGGAGATAGTGGAAGAGTCAGGA
CAGGTTGGTCTCCAGCCCCACTTCCCAAATATGCCTCAGCCCCACTAGCTGGCACCAACTTAATTCCACGGGACCATCTGCTGAACATTC
CCCAGTGCCATGGCCAGTTGCCAGGCCCCAGCGCCAGCCAGTCTGGCCTTACCCTCCGGTTGGCGCCTGCCAGCCCCCTCCCCTCTGCCC
AGGCTGCCACGCCCTGGATGCCACCCAGTGCAGCCTGGCACCTACCCACCCACCCTTCAGCTTAAGCCACTCCCCTTGCCTCTCAGGAAT
TTTGCCAGGATGGGGCACAGCAGCTCAGGTTTGGGGGAAAAGACCCGAATCCAGAGTGCAGGGGAGAGGGGCTTGGATATGCCATGTCTT
GGGCTCCTGCTGGCTTCTGAGGTTTCTTGTCAGCTTGGGAAAGACCCACCTTTATTTTTGCCCTCACCCCAAGTCCCCCCTGGCTGGGGC
TGGGCAGAGAGGGTAAGCTGATCTCCGATCCACAAATACCACCAGCTGCTTCATCCACAGAAGGCGCTAAGAACGGGGAGGTGAGGAATA
AGATCCTTAAAATAAACTCTTGGGCATCCCCCTCACCAGCTGACTGGCTTTCCGGAGGCTTGTGGGTGAGTTTCAAGTTTGTGGTGGCAA
CAGCAGCAGGACAGGGCACGGAGGGAGCGAGGGAGAGAGGACCGGTCCCAGCTTTTGGATATTTTGGGTTATGGGGAAGCAAGGGCCAAA
CATTCTTTATCCCTCCCACCCCAGGGAAAACATTTGGAAAATAGTCCTTTTTCTTGGAAGCAGTGACGTCTCCCTACCCAATCTTTCCCA
TCCTATCAACCCATGGGGCTAGAGACTGCCATGCAACCACCACCACGACAGCCCTTCCTCCATCAGAAGACAGGAGTGAGGGCCCCGGGC
AGCAGTGGACGACCCAGCCTCCCCATACCGGGCCTCTGGCCCAGACCTAAGCCCTGCCCACAAAGACTAATGGATGCCAGTGCTGTCACT
GCAGAAGGCCAGATGGCAGGTGCCTGGGACAGGGGCAGGTGCCCCGGGGAGGGCAAGTACAGCCACTGTAAATAACCCTCGTCCCTGCCC
AGGAACCCAGACTGGACTTCAGTCTCCCTCCATGGAGACAAAGGCTTCCCAGAGCCACCAAAAACCTTCTTAGCAGGACAGCTGTGAGAG
GCATCAGAACCTCACGTTCGGACTGCCTTCATCAAGACAACTCTAGGGGACCATTTTGCCTGGGGCTCCTAGCAAACCTTTTTATTTATT
TTATTTATTTATCTATTTATTTATTTGATGACTGTCTCTCTTTCTCGCCATTAGCAGTATTGAATTATTTATTTATACAGAGGTTTTGTG
TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGGATCTCCTAAATTATTTCTGTGCATCTCCTTTTTTTT
TCTGCTGTTTTTTATGGATGGGATTTGAGAGGCCAAAGGTGAGTGGGCTATTGGCCTTCTCCCTGAAGGCTCTAAGCCTGGAACACCCTG
GGGTTGGCCCAGAAGGAGGCACATCAGTCCCAAAATTCATCACTTAACCCAGCGTCCAGGAGGGTCAGGCCTGTACCCCAGCCTCCTGTC
CCCCAGGAACCTCACAGGGGTATCAAAAAGATGTAAACAGCCCAGAGGCTTATGAGCTACAGTGATGAATTGACACAGTGGAGTTGCAAC
TTAGGTGGGGGTTGGAGTCGAAAGTTGGCAAATGGGGCCAAGGCTGCACAAAGTCGAAATCCCTTGTGAATGTCCCTTAGGGAGGCACCA
GATTGGAGACAGATGTGCTATCTCCTAACAGAGTGATGAGGCTTCAGTTGAGTACTTGCTGAAGTAGTTGCCTTGTATTTTGAGGGCCAT
GGTGGATGAAAATGATGTCTGGTTTAGTACTGGAATTGCACTTGGGGTTGACAAGGTGCTCACACCATGAGAATGGAGGCAGGAATTGAG
CTGACTGAGGGAAGATGCACCTTGATCTCACCCTCACTCCAAGGCACATAGCAGGATCACTCCCTAGCTTCTCTGAGCACACCTAGTTGG
TTTCATGTATGTTACACATGCTTCCACTCCACAGTACCTAATTTCTCTCTGTCCCCTGAGATCTGAAGGCTACCTTGGGAAGAGGCATCA
GCCATCTTGCTTGAGAACCACCAAGCCAAAAGCAAAAGCTTTTATCTATGATCTCTTGCTGTTTCATCAGGGGAAAGCACAAAGCTATTT
CTGAAATTAGGAAAAAAAAAAAAAAGGTGGAAGGAGCAGCCAGATGTTCCACAGGACCCCACCAAGAAGGTCATTTCCAAACCCATCCTG
GAAGGGCCCAGGATCCAAAGGTCATCAGTCCTGCTTATCTGACCAACTGGCAGTGTCTTCTGGCTGCTGGCCGGAGACAGCTCTTGCCCT
TTCCAAAGTCACTGTCCACTGCCTTGCAATTGCCAGCTTGTCTGGTCCAGCTTTGGGTTTGGTGAGACTTTTGCAACATCCCTGGTTGTT
TCCCTGGCAATGTGACTATCCAGCCCTAACCCAAAGCAAGGGAGTGCCCCTTTCCTGGGTGAAGTTTACAAGAAGGCTGCTTAAATGCCT
GCTTCGGGGAAATCTCTGCCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC
TCAGTGTATTTCTCTACTTTCTTTTACATTTCCTTTTTTTCTATCCAAAAACAATGTGCTTGTTGAGGCACTGGTAACCCTGATTAACCA
GAACCTCCCATTCCCAGTATCGCTGTTCCTACGCCCATTTCACCCTCATTACCTTCTGCTTCCAAGGAATATGACAGATCACCAGGATGC
TGCTCGTCGTGAGGATTTATCTCAAAAACCAACATCCAAAATGGGAGGGAGATGTGGCTTGAGGTCAAGCGCCATGCATCCCAAGCCTTT
GACCTTCCCGCTATGGAAGTGCACTGGATGACAGAAACTGAATACATTGCTCCCTTTCCCTAGGGCAAAGTTCGACCTCTGTTAAGTGGA
GGGATTTGTGAGATAAAAATTCAAAATGTTGGCCTGAGGCCTGAGAGTGTCACCAAAGACAGAGGGAGCTTCACTGAGACTCAGAGGGAA
AAGGAAAAGAGCCTCAAACATTTTTAGGAGGTTGTCCATCATGAAAGTAAAAACGAAAAGCAAGATTTGATCTCCCTTCAGTTAATTAGG
CAAGGCTAAGTAACTCAAAGCCCCCTATTAGTAACATTCTGGTTCACTGAGGTTTGATCATATTCCTATCTGCATTCCTTCCCTTCTTTG
AAGGACAGCTGATCTTTCAGAAGCAGAATAAAATTAAGATGTTAGAACAAAGGTCTCAGTCTCAGAGAACCGCATCACTTCATTTGCTCA
GACCCATCCTCTTTTGCAAAAGGGTCTGCTTGGAGAGGCCAAAATTCAGGGTGCTCTCAAAGGCAAAGAAAGCACATTGTTTTCCTTCTC
CAGTCCAACTTTCATCTTTTCTTCTGCTGTTTTCTTTTCCCCTCTTCTTTTTCACAAATGTTCAAAATGGTCTCATGCGCATGTGTCTTG
CCCCACTTTCCCCTTTAGCTGAACAGAAAATTTTGTCTCAGTAAAACGAAGTCAAAAAACAGGATTCCTCCAAACATGCCTCCTCCCGCA
CTGGCCAGCCGAGTCCAGCTGAGAAACTTATGCTAGATTCAATGTCATTGAGCAATGCTTTATTGAAGTCTCGTTCTTCTCACTTCTGCA
CCAGTGAGCCAATGATACTGACAGAAATGTCATCTCTCTTCTATCTGTGGTTGCTGTTTTTGGAGTAAAAGTTTCTGTGTGTGTTTTTTT
AGTTCTTTTGATGGCTGTTGTTTTGCATTGTAAATACCATGATGGGGGACCCCCATCAGAACATGGCTTATTTAATAATTTATTTCGTAT
TTATTGAGTAATATTGGGAAAAGAGAAGGACCACCTCTTTCCCTGAATTGCTATTGAGAATTGGTCCATCTCCCAGCTCCAGGTGCTGCT
GTCTGCAGCAAGGGCATTACTGCCCAGGTAAGGAGTGCTAGAATCACCAAGCAAATTGAAATTGGCAGAAATGGAGGCTTCAGTCACACA
AATTAGACTCAAATGGAACTAAAACACTGGTTATCTCCAGGAAAACCTCATTTAGATGGAAATTAATGGAAGAATAAAATGCCTACACAT
GAACCAACTTCTATTAAAAAGTCACAACTCCTTGAAAAAAAAAATAAAGAAAAATTGTAAACTCTTTTTTTTTTCTGGCCAAGGAAAGCT
ATGCCTCATCTTCTAACGAGCCAAGCCAAAAAGACTGCAATGGTATTCCTATGTGTTTCTTTGGCCTGTGTATCAGTCTGAATGAAATGG
AATGGGTCTCTAGCCTCAGTCTTGTCATCTGTAAAATGGGGCTTGTCCTATATATTATCTGCAAGACGTGGGAAATGGGGGCTCAAGCCC
TGATGCTATGGACTCCATACTGTTGGATATATTGTCTCTTGTGTCTTCTGCTGACTGCAGATTAAAGGGTGTCAACCAAGGAAGGAAACA
AAAAAGTAGGGCCTGGACTTCATTTGCAGAATGAGGTCATAGTCGTTGAGTCCCACAGTCATATATGGGAGACCTCAAGTTGCTGTCACC
TTGATAACTCTTGTATCCTGGGTTAAAGCCCTCTGTATTTAGTTTGAACTTCTCTCTAAGCCCCGTGGTCCAAAGTCATCACGGGAGAGA
CCAAGATGGGCTTACCTTGCCCTGCTCTGGATTTAACCATTGTTCATTGTCAGGCTATATTTTTGTACAATCATTCAAATAACCCAGTGA
CATAGGTCATATTGCCACTTTTCAGAGGAGAAAACTGAGGCTCAGGAGGGGGAGTTGACATGCCCAAGCTCCCTTGAGCTCAGATCAGCT
TGACTCAATGTCCAACATTCCCTTGGTAGCTTTTTCTCCGGGGTCCTGTGCTATAAGAACTTCTCTCTGCACTGTATTTTTTTTTCTCCC
AATTCTTAGCTATTTCCTCAAGCAATGATTGGCCAAGGACCTAGCATAATCCACCACATTGGCCAAGGGGACGTGGTGCACCCCAAGGCC
ATTTCTCTGCATTGGAGGCTGCGAATCTCCTCTGGAAAATTCCCAACCCGAGGACCCACCATGAGCCCAGCTCAGCCTGACCAGACAGCC
TCTGCCTGGAGCATTCACATCAGATGGAAAGAAGCTGCTGTGTCCTCCAGCATCCTGGGACCCTGTCCTCTGCCCAGTGACACAGCAGCC
ATGGCTAGCTTGATTTCTGGTCTCCAAAGCTAAGCATAACCTTCCCGGGGTTTCTGGTTTTTCAGCCTGTACGAAACATGTCTCTGTTCT

>In-frame_ENST00000261318_ENST00000267260_TCGA-06-5856-01A_C12orf49_chr12_117175595_-_SRRM4_chr12_119583186_length(amino acids)=391AA_start in transcript=161_stop in transcript=1336
MVNLAAMVWRRLLRKRWVLALVFGLSLVYFLSSTFKQITGSGSAADLFTKTASPLTTSRGRSQEYDSGNDTSSPPSTQTSSARSRGQEKG
SPSGGLSKSRELNSGNTSDSGNSFTTSSPQNKGAMLENLSPTSRGRESRGFQSPCLECAEVKKSSLVPSTARSSPMKGCSRSSSYASTRS
SSHSSRSPNPRASPRYTQSRSTSSEKRSYSRSPSYSSKSGKRSPPSRSSRSRRSPSYSRYSPSRERDPKYSEKDSQQRERERARRRRRSY
SPMRKRRRDSPSHLEARRITSARKRPIPYYRPSPSSSGSLSSTSSWYSSSSSRSASRSYSRSRSRSRSRRRSRTRTSSSSSSRSPSPGSR

--------------------------------------------------------------
>In-frame_ENST00000536380_ENST00000267260_TCGA-06-5856-01A_C12orf49_chr12_117175595_-_SRRM4_chr12_119583186_length(transcript)=7598nt_BP=280nt
GTCACGTGGGGCTGCGCCCAAGGCTGCCGGGAGCAGACTGGGCTGCGGGCGGCGGGGCCGGCGCCTGCCTGGAGGGATGGGGCTGCCGGG
CGCGTAGGGGCCATGCCGCCCGGGACCCGGGCCTGCCGCGTTCCGCGCCCCGGCCGCCGCGCCCCACGTCCGCGCCGGGATGGTGAACCT
GGCGGCCATGGTGTGGCGCCGGCTTCTGCGGAAGAGGTGGGTGCTCGCCCTGGTCTTCGGGCTGTCGCTCGTCTACTTCCTCAGCAGCAC
CTTCAAGCAGATCACTGGGTCGGGGTCTGCTGCTGACCTCTTTACCAAAACAGCCAGCCCGCTCACCACCTCGCGAGGACGTTCCCAGGA
GTACGACTCAGGAAATGACACGTCCTCGCCACCCTCCACGCAAACCAGCTCAGCCAGGTCTCGGGGCCAGGAGAAGGGGAGCCCCAGTGG
GGGCTTGAGCAAGAGCCGGGAGCTCAACAGTGGCAACACCTCTGATTCAGGGAACTCCTTCACCACCTCCTCACCCCAGAACAAGGGGGC
CATGTTGGAGAATCTCTCCCCCACCAGCAGGGGCAGAGAGTCAAGGGGATTTCAGTCACCGTGTCTGGAATGTGCCGAAGTGAAGAAGTC
CAGTTTGGTCCCATCCACAGCCCGGAGCTCACCCATGAAAGGGTGTTCCCGCAGCTCCTCCTATGCCAGCACCCGATCCTCCAGTCACTC
GTCCCGATCCCCAAATCCCAGGGCTTCCCCCAGGTACACCCAAAGCCGATCCACCTCTTCTGAAAAAAGGTCCTACTCCCGCTCTCCCAG
CTATTCCTCCAAGTCTGGCAAGAGGAGCCCGCCCAGCAGAAGCTCTAGGTCCCGCCGCAGCCCTAGCTACTCCCGCTACAGCCCCAGCAG
GGAGCGGGATCCCAAATACAGTGAGAAGGACTCGCAGCAGCGGGAGCGCGAGCGAGCGCGTCGGAGACGTCGGTCCTACTCGCCTATGAG
AAAGCGCCGGAGAGACTCCCCGAGCCACCTGGAGGCCCGGAGGATAACCAGTGCCCGGAAACGCCCCATCCCCTACTATCGGCCCAGCCC
CTCCTCATCCGGCAGCCTCAGCAGCACCTCCTCCTGGTACAGCAGCAGCAGTAGCCGCTCGGCCAGCCGCAGCTACTCCCGGAGCCGGAG
TCGGAGCCGGAGCCGGAGACGGAGCCGGACCCGCACGAGCAGCAGCTCTAGCTCCCGCAGCCCTAGTCCGGGCTCCCGCAGCCGGAGCCG
GAGCAGGAGCCGGAGCCGGAGCCGGAGCAGGAGCCAGAGCCGGAGCTACAGCTCAGCAGACAGCTACTCCAGCACGAGGCGCTAAGTGCC
CCTGAGCCAGCTGCCCGTGGGGGCCCCTTCGCGCTGCCAGCCTCCCCCAACCACCTGCCCTCCCCGCCTTCTTGGTGACAAATAGTGAGG
GCTCCTATACCTTGTCCTTCCTGCTTGCCTAGGGGAAGAGGAGAAGAGGGTAAGGGGGCTTCACTCTCTAGATCAGCCTGCTAGGAGCCT
CTACCAGCATCATCCTGGGGCCCAGCTCAGGCCTGGGCATATGGAAAGAACCATCATCTTGTGGCACAAAAAAAGAAGAAAGAAAAGAAA
ACTTCAAGGTTTTGTGAGAAGCAATGGGTCTGTGACTCAAAAATTGAGCCCTGGCCAGGAAAATGTGGAGACAGTTCTTCTCCTCCACTG
CTCACAGGAGGCCCGTGGTAATTCTCCCCACCTCCCCGGATGCCCCACTAGTCCAACTTCATGGCTGCACGTGGATGGACCCCCATGTCT
GAGAGGGGTGAAAGAGGAGACCAATGGCAGTTCAGGTTCAAGATAACGGGGTCAGGCCTTTAACTTCCTCAAACAGGCCCAAGCAAAGGC
TGGAAGACATTTGGGTCCTAGAAGAAGGGATATCCTTGAATACCAGATGGGGACGTTTGACTTGGTGGGAGGTGTCAGGAGATAGGAGTT
GGTTAAGATGATAGATAGAAAAACGGAAGGGTTCAGCTGCTGCTCCCAATACCTCAGCATGGTAAGGGGACAGAGCCCAGCAGATCCCAG
CTGTGAAGAGGCCACTGCATGGCTGACACAAAACACCTCTTGGCCATTCACAGGGGCCCTGCAACCTCACGAGAAAGGAGATAGTGGAAG
AGTCAGGACAGGTTGGTCTCCAGCCCCACTTCCCAAATATGCCTCAGCCCCACTAGCTGGCACCAACTTAATTCCACGGGACCATCTGCT
GAACATTCCCCAGTGCCATGGCCAGTTGCCAGGCCCCAGCGCCAGCCAGTCTGGCCTTACCCTCCGGTTGGCGCCTGCCAGCCCCCTCCC
CTCTGCCCAGGCTGCCACGCCCTGGATGCCACCCAGTGCAGCCTGGCACCTACCCACCCACCCTTCAGCTTAAGCCACTCCCCTTGCCTC
TCAGGAATTTTGCCAGGATGGGGCACAGCAGCTCAGGTTTGGGGGAAAAGACCCGAATCCAGAGTGCAGGGGAGAGGGGCTTGGATATGC
CATGTCTTGGGCTCCTGCTGGCTTCTGAGGTTTCTTGTCAGCTTGGGAAAGACCCACCTTTATTTTTGCCCTCACCCCAAGTCCCCCCTG
GCTGGGGCTGGGCAGAGAGGGTAAGCTGATCTCCGATCCACAAATACCACCAGCTGCTTCATCCACAGAAGGCGCTAAGAACGGGGAGGT
GAGGAATAAGATCCTTAAAATAAACTCTTGGGCATCCCCCTCACCAGCTGACTGGCTTTCCGGAGGCTTGTGGGTGAGTTTCAAGTTTGT
GGTGGCAACAGCAGCAGGACAGGGCACGGAGGGAGCGAGGGAGAGAGGACCGGTCCCAGCTTTTGGATATTTTGGGTTATGGGGAAGCAA
GGGCCAAACATTCTTTATCCCTCCCACCCCAGGGAAAACATTTGGAAAATAGTCCTTTTTCTTGGAAGCAGTGACGTCTCCCTACCCAAT
CTTTCCCATCCTATCAACCCATGGGGCTAGAGACTGCCATGCAACCACCACCACGACAGCCCTTCCTCCATCAGAAGACAGGAGTGAGGG
CCCCGGGCAGCAGTGGACGACCCAGCCTCCCCATACCGGGCCTCTGGCCCAGACCTAAGCCCTGCCCACAAAGACTAATGGATGCCAGTG
CTGTCACTGCAGAAGGCCAGATGGCAGGTGCCTGGGACAGGGGCAGGTGCCCCGGGGAGGGCAAGTACAGCCACTGTAAATAACCCTCGT
CCCTGCCCAGGAACCCAGACTGGACTTCAGTCTCCCTCCATGGAGACAAAGGCTTCCCAGAGCCACCAAAAACCTTCTTAGCAGGACAGC
TGTGAGAGGCATCAGAACCTCACGTTCGGACTGCCTTCATCAAGACAACTCTAGGGGACCATTTTGCCTGGGGCTCCTAGCAAACCTTTT
TATTTATTTTATTTATTTATCTATTTATTTATTTGATGACTGTCTCTCTTTCTCGCCATTAGCAGTATTGAATTATTTATTTATACAGAG
GTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGGATCTCCTAAATTATTTCTGTGCATCTCC
TTTTTTTTTCTGCTGTTTTTTATGGATGGGATTTGAGAGGCCAAAGGTGAGTGGGCTATTGGCCTTCTCCCTGAAGGCTCTAAGCCTGGA
ACACCCTGGGGTTGGCCCAGAAGGAGGCACATCAGTCCCAAAATTCATCACTTAACCCAGCGTCCAGGAGGGTCAGGCCTGTACCCCAGC
CTCCTGTCCCCCAGGAACCTCACAGGGGTATCAAAAAGATGTAAACAGCCCAGAGGCTTATGAGCTACAGTGATGAATTGACACAGTGGA
GTTGCAACTTAGGTGGGGGTTGGAGTCGAAAGTTGGCAAATGGGGCCAAGGCTGCACAAAGTCGAAATCCCTTGTGAATGTCCCTTAGGG
AGGCACCAGATTGGAGACAGATGTGCTATCTCCTAACAGAGTGATGAGGCTTCAGTTGAGTACTTGCTGAAGTAGTTGCCTTGTATTTTG
AGGGCCATGGTGGATGAAAATGATGTCTGGTTTAGTACTGGAATTGCACTTGGGGTTGACAAGGTGCTCACACCATGAGAATGGAGGCAG
GAATTGAGCTGACTGAGGGAAGATGCACCTTGATCTCACCCTCACTCCAAGGCACATAGCAGGATCACTCCCTAGCTTCTCTGAGCACAC
CTAGTTGGTTTCATGTATGTTACACATGCTTCCACTCCACAGTACCTAATTTCTCTCTGTCCCCTGAGATCTGAAGGCTACCTTGGGAAG
AGGCATCAGCCATCTTGCTTGAGAACCACCAAGCCAAAAGCAAAAGCTTTTATCTATGATCTCTTGCTGTTTCATCAGGGGAAAGCACAA
AGCTATTTCTGAAATTAGGAAAAAAAAAAAAAAGGTGGAAGGAGCAGCCAGATGTTCCACAGGACCCCACCAAGAAGGTCATTTCCAAAC
CCATCCTGGAAGGGCCCAGGATCCAAAGGTCATCAGTCCTGCTTATCTGACCAACTGGCAGTGTCTTCTGGCTGCTGGCCGGAGACAGCT
CTTGCCCTTTCCAAAGTCACTGTCCACTGCCTTGCAATTGCCAGCTTGTCTGGTCCAGCTTTGGGTTTGGTGAGACTTTTGCAACATCCC
TGGTTGTTTCCCTGGCAATGTGACTATCCAGCCCTAACCCAAAGCAAGGGAGTGCCCCTTTCCTGGGTGAAGTTTACAAGAAGGCTGCTT
AAATGCCTGCTTCGGGGAAATCTCTGCCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTC
TCTCTCTCTCAGTGTATTTCTCTACTTTCTTTTACATTTCCTTTTTTTCTATCCAAAAACAATGTGCTTGTTGAGGCACTGGTAACCCTG
ATTAACCAGAACCTCCCATTCCCAGTATCGCTGTTCCTACGCCCATTTCACCCTCATTACCTTCTGCTTCCAAGGAATATGACAGATCAC
CAGGATGCTGCTCGTCGTGAGGATTTATCTCAAAAACCAACATCCAAAATGGGAGGGAGATGTGGCTTGAGGTCAAGCGCCATGCATCCC
AAGCCTTTGACCTTCCCGCTATGGAAGTGCACTGGATGACAGAAACTGAATACATTGCTCCCTTTCCCTAGGGCAAAGTTCGACCTCTGT
TAAGTGGAGGGATTTGTGAGATAAAAATTCAAAATGTTGGCCTGAGGCCTGAGAGTGTCACCAAAGACAGAGGGAGCTTCACTGAGACTC
AGAGGGAAAAGGAAAAGAGCCTCAAACATTTTTAGGAGGTTGTCCATCATGAAAGTAAAAACGAAAAGCAAGATTTGATCTCCCTTCAGT
TAATTAGGCAAGGCTAAGTAACTCAAAGCCCCCTATTAGTAACATTCTGGTTCACTGAGGTTTGATCATATTCCTATCTGCATTCCTTCC
CTTCTTTGAAGGACAGCTGATCTTTCAGAAGCAGAATAAAATTAAGATGTTAGAACAAAGGTCTCAGTCTCAGAGAACCGCATCACTTCA
TTTGCTCAGACCCATCCTCTTTTGCAAAAGGGTCTGCTTGGAGAGGCCAAAATTCAGGGTGCTCTCAAAGGCAAAGAAAGCACATTGTTT
TCCTTCTCCAGTCCAACTTTCATCTTTTCTTCTGCTGTTTTCTTTTCCCCTCTTCTTTTTCACAAATGTTCAAAATGGTCTCATGCGCAT
GTGTCTTGCCCCACTTTCCCCTTTAGCTGAACAGAAAATTTTGTCTCAGTAAAACGAAGTCAAAAAACAGGATTCCTCCAAACATGCCTC
CTCCCGCACTGGCCAGCCGAGTCCAGCTGAGAAACTTATGCTAGATTCAATGTCATTGAGCAATGCTTTATTGAAGTCTCGTTCTTCTCA
CTTCTGCACCAGTGAGCCAATGATACTGACAGAAATGTCATCTCTCTTCTATCTGTGGTTGCTGTTTTTGGAGTAAAAGTTTCTGTGTGT
GTTTTTTTAGTTCTTTTGATGGCTGTTGTTTTGCATTGTAAATACCATGATGGGGGACCCCCATCAGAACATGGCTTATTTAATAATTTA
TTTCGTATTTATTGAGTAATATTGGGAAAAGAGAAGGACCACCTCTTTCCCTGAATTGCTATTGAGAATTGGTCCATCTCCCAGCTCCAG
GTGCTGCTGTCTGCAGCAAGGGCATTACTGCCCAGGTAAGGAGTGCTAGAATCACCAAGCAAATTGAAATTGGCAGAAATGGAGGCTTCA
GTCACACAAATTAGACTCAAATGGAACTAAAACACTGGTTATCTCCAGGAAAACCTCATTTAGATGGAAATTAATGGAAGAATAAAATGC
CTACACATGAACCAACTTCTATTAAAAAGTCACAACTCCTTGAAAAAAAAAATAAAGAAAAATTGTAAACTCTTTTTTTTTTCTGGCCAA
GGAAAGCTATGCCTCATCTTCTAACGAGCCAAGCCAAAAAGACTGCAATGGTATTCCTATGTGTTTCTTTGGCCTGTGTATCAGTCTGAA
TGAAATGGAATGGGTCTCTAGCCTCAGTCTTGTCATCTGTAAAATGGGGCTTGTCCTATATATTATCTGCAAGACGTGGGAAATGGGGGC
TCAAGCCCTGATGCTATGGACTCCATACTGTTGGATATATTGTCTCTTGTGTCTTCTGCTGACTGCAGATTAAAGGGTGTCAACCAAGGA
AGGAAACAAAAAAGTAGGGCCTGGACTTCATTTGCAGAATGAGGTCATAGTCGTTGAGTCCCACAGTCATATATGGGAGACCTCAAGTTG
CTGTCACCTTGATAACTCTTGTATCCTGGGTTAAAGCCCTCTGTATTTAGTTTGAACTTCTCTCTAAGCCCCGTGGTCCAAAGTCATCAC
GGGAGAGACCAAGATGGGCTTACCTTGCCCTGCTCTGGATTTAACCATTGTTCATTGTCAGGCTATATTTTTGTACAATCATTCAAATAA
CCCAGTGACATAGGTCATATTGCCACTTTTCAGAGGAGAAAACTGAGGCTCAGGAGGGGGAGTTGACATGCCCAAGCTCCCTTGAGCTCA
GATCAGCTTGACTCAATGTCCAACATTCCCTTGGTAGCTTTTTCTCCGGGGTCCTGTGCTATAAGAACTTCTCTCTGCACTGTATTTTTT
TTTCTCCCAATTCTTAGCTATTTCCTCAAGCAATGATTGGCCAAGGACCTAGCATAATCCACCACATTGGCCAAGGGGACGTGGTGCACC
CCAAGGCCATTTCTCTGCATTGGAGGCTGCGAATCTCCTCTGGAAAATTCCCAACCCGAGGACCCACCATGAGCCCAGCTCAGCCTGACC
AGACAGCCTCTGCCTGGAGCATTCACATCAGATGGAAAGAAGCTGCTGTGTCCTCCAGCATCCTGGGACCCTGTCCTCTGCCCAGTGACA
CAGCAGCCATGGCTAGCTTGATTTCTGGTCTCCAAAGCTAAGCATAACCTTCCCGGGGTTTCTGGTTTTTCAGCCTGTACGAAACATGTC

>In-frame_ENST00000536380_ENST00000267260_TCGA-06-5856-01A_C12orf49_chr12_117175595_-_SRRM4_chr12_119583186_length(amino acids)=391AA_start in transcript=169_stop in transcript=1344
MVNLAAMVWRRLLRKRWVLALVFGLSLVYFLSSTFKQITGSGSAADLFTKTASPLTTSRGRSQEYDSGNDTSSPPSTQTSSARSRGQEKG
SPSGGLSKSRELNSGNTSDSGNSFTTSSPQNKGAMLENLSPTSRGRESRGFQSPCLECAEVKKSSLVPSTARSSPMKGCSRSSSYASTRS
SSHSSRSPNPRASPRYTQSRSTSSEKRSYSRSPSYSSKSGKRSPPSRSSRSRRSPSYSRYSPSRERDPKYSEKDSQQRERERARRRRRSY
SPMRKRRRDSPSHLEARRITSARKRPIPYYRPSPSSSGSLSSTSSWYSSSSSRSASRSYSRSRSRSRSRRRSRTRTSSSSSSRSPSPGSR

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Fusion Gene PPI Analysis for C12orf49-SRRM4


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 C12orf49-SRRM4


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 C12orf49-SRRM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSRRM4C0042594Vestibular Diseases1CTD_human
TgeneSRRM4C0155536Paracousis1CTD_human
TgeneSRRM4C0260662Hearing problem1CTD_human
TgeneSRRM4C0877848Distorted hearing1CTD_human
TgeneSRRM4C1510450Dysacusis1CTD_human