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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:TTC19-TMEM45A (FusionGDB2 ID:94275)

Fusion Gene Summary for TTC19-TMEM45A

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC19-TMEM45A
Fusion gene ID: 94275
HgeneTgene
Gene symbol

TTC19

TMEM45A

Gene ID

54902

55076

Gene nametetratricopeptide repeat domain 19transmembrane protein 45A
Synonyms2010204O13Rik|MC3DN2DERP7|DNAPTP4
Cytomap

17p12

3q12.2

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 19, mitochondrialTPR repeat protein 19transmembrane protein 45ADNA polymerase-transactivated protein 4dermal papilla derived protein 7
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000261647, ENST00000486880, 
ENST00000497842, 		ENST00000323523, 
ENST00000403410, ENST00000462884, 
Fusion gene scores* DoF score12 X 8 X 8=7686 X 6 X 4=144
# samples 148
** MAII scorelog2(14/768*10)=-2.45567948377619
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTC19 [Title/Abstract] AND TMEM45A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTTC19(15930016)-TMEM45A(100287666), # samples:2
Anticipated loss of major functional domain due to fusion event.TTC19-TMEM45A seems lost the major protein functional domain in Hgene partner, which is a essential gene 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 TTC19 (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 TMEM45A (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
ChimerDB4OVTCGA-24-1428-01ATTC19chr17

15930016

+TMEM45Achr3

100287666

+
ChimerDB4OVTCGA-24-1428TTC19chr17

15930016

+TMEM45Achr3

100287665

+
ChimerDB4OVTCGA-24-1428-01ATTC19chr17

15930016

+TMEM45Achr3

100287666

+
ChimerDB4OVTCGA-24-1428-01ATTC19chr17

15931651

+TMEM45Achr3

100287666

+


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Fusion Gene ORF analysis for TTC19-TMEM45A

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
Frame-shiftENST00000261647ENST00000323523TTC19chr17

15930016

+TMEM45Achr3

100287666

+
Frame-shiftENST00000261647ENST00000403410TTC19chr17

15930016

+TMEM45Achr3

100287666

+
5CDS-intronENST00000261647ENST00000462884TTC19chr17

15930016

+TMEM45Achr3

100287666

+
Frame-shiftENST00000486880ENST00000323523TTC19chr17

15930016

+TMEM45Achr3

100287666

+
Frame-shiftENST00000486880ENST00000403410TTC19chr17

15930016

+TMEM45Achr3

100287666

+
5CDS-intronENST00000486880ENST00000462884TTC19chr17

15930016

+TMEM45Achr3

100287666

+
3UTR-3CDSENST00000497842ENST00000323523TTC19chr17

15930016

+TMEM45Achr3

100287666

+
3UTR-3CDSENST00000497842ENST00000403410TTC19chr17

15930016

+TMEM45Achr3

100287666

+
3UTR-intronENST00000497842ENST00000462884TTC19chr17

15930016

+TMEM45Achr3

100287666

+
Frame-shiftENST00000261647ENST00000323523TTC19chr17

15930016

+TMEM45Achr3

100287665

+
Frame-shiftENST00000261647ENST00000403410TTC19chr17

15930016

+TMEM45Achr3

100287665

+
5CDS-intronENST00000261647ENST00000462884TTC19chr17

15930016

+TMEM45Achr3

100287665

+
Frame-shiftENST00000486880ENST00000323523TTC19chr17

15930016

+TMEM45Achr3

100287665

+
Frame-shiftENST00000486880ENST00000403410TTC19chr17

15930016

+TMEM45Achr3

100287665

+
5CDS-intronENST00000486880ENST00000462884TTC19chr17

15930016

+TMEM45Achr3

100287665

+
3UTR-3CDSENST00000497842ENST00000323523TTC19chr17

15930016

+TMEM45Achr3

100287665

+
3UTR-3CDSENST00000497842ENST00000403410TTC19chr17

15930016

+TMEM45Achr3

100287665

+
3UTR-intronENST00000497842ENST00000462884TTC19chr17

15930016

+TMEM45Achr3

100287665

+
3UTR-3CDSENST00000261647ENST00000323523TTC19chr17

15931651

+TMEM45Achr3

100287666

+
3UTR-3CDSENST00000261647ENST00000403410TTC19chr17

15931651

+TMEM45Achr3

100287666

+
3UTR-intronENST00000261647ENST00000462884TTC19chr17

15931651

+TMEM45Achr3

100287666

+
3UTR-3CDSENST00000486880ENST00000323523TTC19chr17

15931651

+TMEM45Achr3

100287666

+
3UTR-3CDSENST00000486880ENST00000403410TTC19chr17

15931651

+TMEM45Achr3

100287666

+
3UTR-intronENST00000486880ENST00000462884TTC19chr17

15931651

+TMEM45Achr3

100287666

+
intron-3CDSENST00000497842ENST00000323523TTC19chr17

15931651

+TMEM45Achr3

100287666

+
intron-3CDSENST00000497842ENST00000403410TTC19chr17

15931651

+TMEM45Achr3

100287666

+
intron-intronENST00000497842ENST00000462884TTC19chr17

15931651

+TMEM45Achr3

100287666

+

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)

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

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Fusion Genomic Features for TTC19-TMEM45A


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)
TTC19chr1715930016+TMEM45Achr3100287665+0.108962030.89103794
TTC19chr1715930016+TMEM45Achr3100287665+0.108962030.89103794
TTC19chr1715930016+TMEM45Achr3100287665+0.108962030.89103794
TTC19chr1715930016+TMEM45Achr3100287665+0.108962030.89103794

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 TTC19-TMEM45A


check button Go to

FGviewer for the breakpoints of :-:

.
- 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

- 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 TTC19-TMEM45A


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.

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Fusion Gene PPI Analysis for TTC19-TMEM45A


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 TTC19-TMEM45A


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 TTC19-TMEM45A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTC19C0023264Leigh Disease8CLINGEN
HgeneTTC19C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY8CLINGEN
HgeneTTC19C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency8CLINGEN
HgeneTTC19C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency8CLINGEN
HgeneTTC19C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency8CLINGEN
HgeneTTC19C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency8CLINGEN
HgeneTTC19C2931891Necrotizing encephalopathy, infantile subacute, of Leigh8CLINGEN
HgeneTTC19C3554605MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 22GENOMICS_ENGLAND
HgeneTTC19C0021359Infertility1CTD_human
HgeneTTC19C0027765nervous system disorder1CTD_human
HgeneTTC19C0231686Gait, Unsteady1CTD_human
HgeneTTC19C0231687Spastic gait1CTD_human
HgeneTTC19C0231688Gait, Shuffling1CTD_human
HgeneTTC19C0231689Gait, Athetotic1CTD_human
HgeneTTC19C0231693Charcot Gait1CTD_human
HgeneTTC19C0231694Gait, Festinating1CTD_human
HgeneTTC19C0231695Cerebellar ataxic gait1CTD_human
HgeneTTC19C0231696Gait, Hemiplegic1CTD_human
HgeneTTC19C0231698Gait, Scissors1CTD_human
HgeneTTC19C0231712Waddling gait1CTD_human
HgeneTTC19C0234996Gait, Rigid1CTD_human
HgeneTTC19C0235000Gait, Broadened1CTD_human
HgeneTTC19C0270715Degenerative Diseases, Central Nervous System1CTD_human
HgeneTTC19C0337210Gait, Stumbling1CTD_human
HgeneTTC19C0427128Rapid Fatigue of Gait1CTD_human
HgeneTTC19C0427149Gait, Drop Foot1CTD_human
HgeneTTC19C0427169Marche a Petit Pas1CTD_human
HgeneTTC19C0427177Gait, Hysterical1CTD_human
HgeneTTC19C0524851Neurodegenerative Disorders1CTD_human
HgeneTTC19C0729353Subfertility1CTD_human
HgeneTTC19C0751651Mitochondrial Diseases1GENOMICS_ENGLAND
HgeneTTC19C0751733Degenerative Diseases, Spinal Cord1CTD_human
HgeneTTC19C0751829Gait Disorder, Sensorimotor1CTD_human
HgeneTTC19C0751830Gait Disorders, Neurologic1CTD_human
HgeneTTC19C0751831Gait, Frontal1CTD_human
HgeneTTC19C0751832Gait, Widebased1CTD_human
HgeneTTC19C4074771Sterility, Reproductive1CTD_human
TgeneTMEM45AC0024121Lung Neoplasms1CTD_human
TgeneTMEM45AC0242379Malignant neoplasm of lung1CTD_human