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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDiseases

Fusion gene ID: 37454

FusionGeneSummary for TBCD_SLC9A3R1

check button Fusion gene summary
Fusion gene informationFusion gene name: TBCD_SLC9A3R1
Fusion gene ID: 37454
HgeneTgene
Gene symbol

TBCD

SLC9A3R1

Gene ID

6904

9368

Gene nametubulin folding cofactor DSLC9A3 regulator 1
SynonymsPEBAT|SSD-1|tfcDEBP50|NHERF|NHERF-1|NHERF1|NPHLOP2
Cytomap

17q25.3

17q25.1

Type of geneprotein-codingprotein-coding
Descriptiontubulin-specific chaperone Dbeta-tubulin cofactor DNa(+)/H(+) exchange regulatory cofactor NHE-RF1Na+/H+ exchange regulatory co-factorezrin-radixin-moesin binding phosphoprotein-50regulatory cofactor of Na(+)/H(+) exchangersolute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory facto
Modification date2018052320180522
UniProtAcc

Q9BTW9

O14745

Ensembl transtripts involved in fusion geneENST00000355528, ENST00000397466, 
ENST00000539345, ENST00000576691, 
ENST00000262613, ENST00000413388, 
Fusion gene scores* DoF score17 X 17 X 11=31794 X 3 X 4=48
# samples 196
** MAII scorelog2(19/3179*10)=-4.06450169280703
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TBCD [Title/Abstract] AND SLC9A3R1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneTBCD

GO:0006457

protein folding

20740604

HgeneTBCD

GO:0007021

tubulin complex assembly

28158450

HgeneTBCD

GO:0007023

post-chaperonin tubulin folding pathway

11847227

HgeneTBCD

GO:0031115

negative regulation of microtubule polymerization

10831612|20740604

TgeneSLC9A3R1

GO:0008285

negative regulation of cell proliferation

20012548

TgeneSLC9A3R1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

20012548

TgeneSLC9A3R1

GO:2001244

positive regulation of intrinsic apoptotic signaling pathway

20012548


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-A7-A26G-01ATBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
TCGALDBRCATCGA-AR-A24O-01ATBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000355528ENST00000262613TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000355528ENST00000413388TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
In-frameENST00000397466ENST00000262613TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000397466ENST00000413388TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
In-frameENST00000539345ENST00000262613TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000539345ENST00000413388TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
intron-3CDSENST00000576691ENST00000262613TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+
intron-5UTRENST00000576691ENST00000413388TBCDchr17

80847573

+SLC9A3R1chr17

72758151

+

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FusionProtFeatures for TBCD_SLC9A3R1


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

Q9BTW9

SLC9A3R1

O14745

Scaffold protein that connects plasma membrane proteinswith members of the ezrin/moesin/radixin family and thereby helpsto link them to the actin cytoskeleton and to regulate theirsurface expression. Necessary for recycling of internalized ADRB2.Was first known to play a role in the regulation of the activityand subcellular location of SLC9A3. Necessary for cAMP-mediatedphosphorylation and inhibition of SLC9A3. May enhance Wntsignaling. May participate in HTR4 targeting to microvilli (Bysimilarity). Involved in the regulation of phosphate reabsorptionin the renal proximal tubules. Involved in sperm capacitation. Mayparticipate in the regulation of the chloride and bicarbonatehomeostasis in spermatozoa. {ECO:0000250,ECO:0000269|PubMed:10499588, ECO:0000269|PubMed:18784102,ECO:0000269|PubMed:9096337, ECO:0000269|PubMed:9430655}.

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
HgeneTBCDchr17:80847573chr17:72758151ENST00000355528+1639361_3995211193RepeatNote=HEAT 1
TgeneSLC9A3R1chr17:80847573chr17:72758151ENST00000262613+06154_234147359DomainPDZ 2

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTBCDchr17:80847573chr17:72758151ENST00000355528+1639557_5945211193RepeatNote=HEAT 2
HgeneTBCDchr17:80847573chr17:72758151ENST00000355528+1639596_6325211193RepeatNote=HEAT 3
TgeneSLC9A3R1chr17:80847573chr17:72758151ENST00000262613+0614_94147359DomainPDZ 1


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FusionGeneSequence for TBCD_SLC9A3R1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_TBCD_ENST00000355528_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_733aa
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRFITRPDVKQSKMAEFLDWSLCNLARSSFQTMQGVITMDGTLQALAQIFKHGKREDCL
PYAATVLRCLDGCRLPESNQTLLRKLGVKLVQRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVER
VIEQLLVGLKDKDTVVRWSAAKGIGRMAGRLPRALADDVVGSVLDCFSFQETDKAWHGGCLALAELGRRGLLLPSRLVDVVAVILKALTY
DEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQRELRPRLCTMKKGPSGYGF
NLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLP
VPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQM

>In-frame_TBCD_ENST00000397466_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_347aa
MAGRLPRALADDVVGSVLDCFSFQETDKAWHGGCLALAELGRRGLLLPSRLVDVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFAR
AYEPQELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQRELRPRLCTMKKGPSGYGFNLHSDKSKPGQFIRSVDPDSPAEASG
LRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPR

>In-frame_TBCD_ENST00000539345_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_733aa
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRFITRPDVKQSKMAEFLDWSLCNLARSSFQTMQGVITMDGTLQALAQIFKHGKREDCL
PYAATVLRCLDGCRLPESNQTLLRKLGVKLVQRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVER
VIEQLLVGLKDKDTVVRWSAAKGIGRMAGRLPRALADDVVGSVLDCFSFQETDKAWHGGCLALAELGRRGLLLPSRLVDVVAVILKALTY
DEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQRELRPRLCTMKKGPSGYGF
NLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFKKCRVIPSQEHLNGPLP
VPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPILDFNISLAMAKERAHQKRSSKRAPQM


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TBCD_ENST00000355528_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_2199nt
ATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGACGAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTC
GGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCACGGCGGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTC
CGCGTAATAATGGACAAATACCAGGAGCAGCCTCATCTGTTGGACCCGCACCTTGAATGGATGATGAACTTGTTGTTGGACATAGTGCAA
GATCAGACATCTCCAGCTTCCCTTGTACATCTGGCTTTTAAATTTCTTTACATCATCACCAAGGTTCGAGGCTATAAAACATTTCTTCGT
TTATTTCCTCATGAAGTTGCCGATGTAGAGCCTGTTTTAGATTTGGTCACAATTCAGAATCCCAAGGACCATGAAGCTTGGGAAACCCGC
TACATGCTTTTGCTCTGGCTCTCCGTGACCTGCCTGATCCCTTTTGATTTTTCTCGCCTTGACGGGAACCTCCTCACCCAGCCTGGGCAA
GCACGAATGTCCATAATGGACCGTATTCTCCAAATAGCAGAGTCCTACTTGATTGTCAGTGACAAGGCCCGAGATGCAGCTGCTGTCCTT
GTGTCCAGATTTATCACACGTCCTGATGTCAAGCAAAGCAAGATGGCTGAGTTCCTGGACTGGAGCCTGTGCAATCTGGCCCGTTCCTCC
TTCCAGACCATGCAGGGGGTCATCACCATGGATGGGACGCTGCAGGCCCTGGCACAAATATTTAAACATGGAAAACGTGAAGACTGTTTG
CCCTATGCTGCCACTGTCCTCAGGTGCCTCGATGGCTGCAGACTCCCTGAGAGCAACCAGACCCTGCTGCGGAAGCTGGGGGTGAAGCTT
GTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAGGTACCAGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAG
CTCCTCACTCAGGGTCAGAGTGAGCAGAAGCCACTCATCCTGACCGAAGATGACGACGAAGATGACGACGTCCCAGAGGGGGTGGAGCGT
GTGATAGAGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGTCTGCAGCCAAGGGCATCGGTAGGATGGCTGGCAGG
CTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGTTTCCAGGAGACTGACAAGGCGTGGCATGGGGGATGT
CTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTGGATGTTGTCGCCGTGATCCTGAAGGCGCTGACCTAC
GACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGCCTGCTACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCT
CAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGCTGCGGTGTTTGACCGAGACATAAACTGCAGAAGAGCAGCC
TCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGGCCCCAGTGGCTATGGCTTC
AACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGGTCAGTGGACCCAGACTCCCCGGCTGAGGCTTCAGGGCTCCGGGCCCAG
GATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGGGGACGTGGTGTCCGCCATCAGGGCTGGCGGGGACGAGACC
AAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAGAGTGATCCCATCTCAGGAGCACCTGAATGGTCCCCTGCCT
GTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCTGGCAGAGGCAGCCTTGGAGAGCCCCAGGCCAGCCCTGGTG
AGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCCCCCAAAACAGGACTCCACAGCGCCCTCGTCTACCTCCTCC
TCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCCCACCAGAAACGCAGCAGCAAACGGGCCCCGCAGATG

>In-frame_TBCD_ENST00000397466_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_1041nt
ATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGTTTCCAGGAGACTGACAAGGCGTGG
CATGGGGGATGTCTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTGGATGTTGTCGCCGTGATCCTGAAG
GCGCTGACCTACGACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGCCTGCTACGTGTGCTGGGCCTTCGCGCGT
GCCTATGAGCCTCAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGCTGCGGTGTTTGACCGAGACATAAACTGC
AGAAGAGCAGCCTCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGGCCCCAGT
GGCTATGGCTTCAACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGGTCAGTGGACCCAGACTCCCCGGCTGAGGCTTCAGGG
CTCCGGGCCCAGGATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGGGGACGTGGTGTCCGCCATCAGGGCTGGC
GGGGACGAGACCAAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAGAGTGATCCCATCTCAGGAGCACCTGAAT
GGTCCCCTGCCTGTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCTGGCAGAGGCAGCCTTGGAGAGCCCCAGG
CCAGCCCTGGTGAGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCCCCCAAAACAGGACTCCACAGCGCCCTCG
TCTACCTCCTCCTCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCCCACCAGAAACGCAGCAGCAAACGG

>In-frame_TBCD_ENST00000539345_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_2199nt
ATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGACGAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTC
GGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCACGGCGGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTC
CGCGTAATAATGGACAAATACCAGGAGCAGCCTCATCTGTTGGACCCGCACCTTGAATGGATGATGAACTTGTTGTTGGACATAGTGCAA
GATCAGACATCTCCAGCTTCCCTTGTACATCTGGCTTTTAAATTTCTTTACATCATCACCAAGGTTCGAGGCTATAAAACATTTCTTCGT
TTATTTCCTCATGAAGTTGCCGATGTAGAGCCTGTTTTAGATTTGGTCACAATTCAGAATCCCAAGGACCATGAAGCTTGGGAAACCCGC
TACATGCTTTTGCTCTGGCTCTCCGTGACCTGCCTGATCCCTTTTGATTTTTCTCGCCTTGACGGGAACCTCCTCACCCAGCCTGGGCAA
GCACGAATGTCCATAATGGACCGTATTCTCCAAATAGCAGAGTCCTACTTGATTGTCAGTGACAAGGCCCGAGATGCAGCTGCTGTCCTT
GTGTCCAGATTTATCACACGTCCTGATGTCAAGCAAAGCAAGATGGCTGAGTTCCTGGACTGGAGCCTGTGCAATCTGGCCCGTTCCTCC
TTCCAGACCATGCAGGGGGTCATCACCATGGATGGGACGCTGCAGGCCCTGGCACAAATATTTAAACATGGAAAACGTGAAGACTGTTTG
CCCTATGCTGCCACTGTCCTCAGGTGCCTCGATGGCTGCAGACTCCCTGAGAGCAACCAGACCCTGCTGCGGAAGCTGGGGGTGAAGCTT
GTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAGGTACCAGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAG
CTCCTCACTCAGGGTCAGAGTGAGCAGAAGCCACTCATCCTGACCGAAGATGACGACGAAGATGACGACGTCCCAGAGGGGGTGGAGCGT
GTGATAGAGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGTCTGCAGCCAAGGGCATCGGTAGGATGGCTGGCAGG
CTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGTTTCCAGGAGACTGACAAGGCGTGGCATGGGGGATGT
CTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTGGATGTTGTCGCCGTGATCCTGAAGGCGCTGACCTAC
GACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGCCTGCTACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCT
CAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGCTGCGGTGTTTGACCGAGACATAAACTGCAGAAGAGCAGCC
TCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGGCCCCAGTGGCTATGGCTTC
AACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGGTCAGTGGACCCAGACTCCCCGGCTGAGGCTTCAGGGCTCCGGGCCCAG
GATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGGGGACGTGGTGTCCGCCATCAGGGCTGGCGGGGACGAGACC
AAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAGAGTGATCCCATCTCAGGAGCACCTGAATGGTCCCCTGCCT
GTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCTGGCAGAGGCAGCCTTGGAGAGCCCCAGGCCAGCCCTGGTG
AGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCCCCCAAAACAGGACTCCACAGCGCCCTCGTCTACCTCCTCC
TCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCCCACCAGAAACGCAGCAGCAAACGGGCCCCGCAGATG


* Fusion transcript sequences (Full-length transcript).
>In-frame_TBCD_ENST00000355528_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_3026nt
GGCCAGCGTCGGTTGCCGCCTTAGCGGGCGCCTCCTTTTCATCCCTCATCCTTCATCCCTGGCTTTCGCGCTCTAGCGGAGTGGGATCTG
CGAACACGTGAGGCGGGGGCGCGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGA
GGACGAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCA
CGGCGGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTCCGCGTAATAATGGACAAATACCAGGAGCAGCCTCATCTGTTGGACCCGCA
CCTTGAATGGATGATGAACTTGTTGTTGGACATAGTGCAAGATCAGACATCTCCAGCTTCCCTTGTACATCTGGCTTTTAAATTTCTTTA
CATCATCACCAAGGTTCGAGGCTATAAAACATTTCTTCGTTTATTTCCTCATGAAGTTGCCGATGTAGAGCCTGTTTTAGATTTGGTCAC
AATTCAGAATCCCAAGGACCATGAAGCTTGGGAAACCCGCTACATGCTTTTGCTCTGGCTCTCCGTGACCTGCCTGATCCCTTTTGATTT
TTCTCGCCTTGACGGGAACCTCCTCACCCAGCCTGGGCAAGCACGAATGTCCATAATGGACCGTATTCTCCAAATAGCAGAGTCCTACTT
GATTGTCAGTGACAAGGCCCGAGATGCAGCTGCTGTCCTTGTGTCCAGATTTATCACACGTCCTGATGTCAAGCAAAGCAAGATGGCTGA
GTTCCTGGACTGGAGCCTGTGCAATCTGGCCCGTTCCTCCTTCCAGACCATGCAGGGGGTCATCACCATGGATGGGACGCTGCAGGCCCT
GGCACAAATATTTAAACATGGAAAACGTGAAGACTGTTTGCCCTATGCTGCCACTGTCCTCAGGTGCCTCGATGGCTGCAGACTCCCTGA
GAGCAACCAGACCCTGCTGCGGAAGCTGGGGGTGAAGCTTGTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAG
GTACCAGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCACTCAGGGTCAGAGTGAGCAGAAGCCACTCATCCTGACCGAAGA
TGACGACGAAGATGACGACGTCCCAGAGGGGGTGGAGCGTGTGATAGAGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCG
GTGGTCTGCAGCCAAGGGCATCGGTAGGATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTT
CAGTTTCCAGGAGACTGACAAGGCGTGGCATGGGGGATGTCTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACT
CGTGGATGTTGTCGCCGTGATCCTGAAGGCGCTGACCTACGACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGC
CTGCTACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCTCAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGC
TGCGGTGTTTGACCGAGACATAAACTGCAGAAGAGCAGCCTCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCGCGAGCTTCGGCCTCG
GCTCTGTACCATGAAGAAGGGCCCCAGTGGCTATGGCTTCAACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGGTCAGTGGA
CCCAGACTCCCCGGCTGAGGCTTCAGGGCTCCGGGCCCAGGATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGG
GGACGTGGTGTCCGCCATCAGGGCTGGCGGGGACGAGACCAAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAG
AGTGATCCCATCTCAGGAGCACCTGAATGGTCCCCTGCCTGTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCT
GGCAGAGGCAGCCTTGGAGAGCCCCAGGCCAGCCCTGGTGAGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCC
CCCAAAACAGGACTCCACAGCGCCCTCGTCTACCTCCTCCTCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAG
GGCCCACCAGAAACGCAGCAGCAAACGGGCCCCGCAGATGGACTGGAGCAAGAAAAACGAACTCTTCAGCAACCTCTGAGCGCCCTGCTG
CCACCCAGTGACTGGCAGGGCCGAGCCAGCATTCCACCCCACCTTTTTCCTTCTCCCCAATTACTCCCCTGAATCAATGTACAAATCAGC
ACCCACATCCCCTTTCTTGACAAATGATTTTTCTAGAGAACTATGTTCTTCCCTGACTTTAGGGAAGGTGAATGTGTTCCCGTCCTCCCG
CAGTCAGAAAGGAGACTCTGCCTCCCTCCTCCTCACTGAGTGCCTCATCCTACCGGGTGTCCCTTTGCCACCCTGCCTGGGACATCGCTG
GAACCTGCACCATGCCAGGATCATGGGACCAGGCGAGAGGGCACCCTCCCTTCCTCCCCCATGTGATAAATGGGTCCAGGGCTGATCAAA
GAACTCTGACTGCAGAACTGCCGCTCTCAGTGGACAGGGCATCTGTTACCCTGAGACCTGTGGCAGACACGTCTTGTTTTCATTTGATTT
TTGTTAAGAGTGCAGTATTGCAGAGTCTAGAGGAATTTTTGTTTCCTTGATTAACATGATTTTCCTGGTTGTTACATCCAGGGCATGGCA
GTGGCCTCAGCCTTAAACTTTTGTTCCTACTCCCACCCTCAGCGAACTGGGCAGCACGGGGAGGGTTTGGCTACCCCTGCCCATCCCTGA

>In-frame_TBCD_ENST00000397466_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_3005nt
TAGCGGGCGCCTCCTTTTCATCCCTCATCCTTCATCCCTGGCTTTCGCGCTCTAGCGGAGTGGGATCTGCGAACACGTGAGGCGGGGGCG
CGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGACGAGACACTGGCCTTTGG
CGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCACGGCGGCGGCGCGGAGCGCGA
GGTGGCCCTGGAGCGGTTCCGCGTAATAATGGACAAATACCAGGAGCAGCCTCATCTGTTGGACCCGCACCTTGAATGGATGATGAACTT
GTTGTTGGACATAGTGCAAGATCAGACATCTCCAGCTTCCCTTGTACATCTGGCTTTTAAATTTCTTTACATCATCACCAAGGTTCGAGG
CTATAAAACATTTCTTCGTTTATTTCCTCATGAAGTTGCCGATGTAGAGCCTGTTTTAGATTTGGTCACAATTCAGAATCCCAAGGACCA
TGAAGCTTGGGAAACCCGCTACATGCTTTTGCTCTGGCTCTCCGTGACCTGCCTGATCCCTTTTGATTTTTCTCGCCTTGACGGGAACCT
CCTCACCCAGCCTGGGCAAGCACGAATGTCCATAATGGACCGTATTCTCCAAATAGCAGAGTCCTACTTGATTGTCAGTGACAAGGCCCG
AGATGCAGCTGCTGTCCTTGTGTCCAGATTTATCACACGTCCTGATGTCAAGCAAAGCAAGATGGCTGAGTTCCTGGACTGGAGCCTGTG
CAATCTGGCCCGTTCCTCCTTCCAGACCATGCAGGGGGTCATCACCATGGATGGGACGCTGCAGGCCCTGGCACAAATATTTAAACATGG
AAAACGTGAAGACTGTTTGCCCTATGCTGCCACTGTCCTCAGGTGCCTCGATGGCTGCAGACTCCCTGAGAGCAACCAGACCCTGCTGCG
GAAGCTGGGGGTGAAGCTTGTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAGGTACCAGCGTGGCTGCCGATC
TTTGGCTGCAAATCTGCAGCTCCTCACTCAGGGTCAGAGTGAGCAGAAGCCACTCATCCTGACCGAAGATGACGACGAAGATGACGACGT
CCCAGAGGGGGTGGAGCGTGTGATAGAGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGTCTGCAGCCAAGGGCAT
CGGTAGGATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGTTTCCAGGAGACTGACAA
GGCGTGGCATGGGGGATGTCTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTGGATGTTGTCGCCGTGAT
CCTGAAGGCGCTGACCTACGACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGCCTGCTACGTGTGCTGGGCCTT
CGCGCGTGCCTATGAGCCTCAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGCTGCGGTGTTTGACCGAGACAT
AAACTGCAGAAGAGCAGCCTCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCGCGAGCTTCGGCCTCGGCTCTGTACCATGAAGAAGGG
CCCCAGTGGCTATGGCTTCAACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGGTCAGTGGACCCAGACTCCCCGGCTGAGGC
TTCAGGGCTCCGGGCCCAGGATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGGGGACGTGGTGTCCGCCATCAG
GGCTGGCGGGGACGAGACCAAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAGAGTGATCCCATCTCAGGAGCA
CCTGAATGGTCCCCTGCCTGTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCTGGCAGAGGCAGCCTTGGAGAG
CCCCAGGCCAGCCCTGGTGAGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCCCCCAAAACAGGACTCCACAGC
GCCCTCGTCTACCTCCTCCTCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCCCACCAGAAACGCAGCAG
CAAACGGGCCCCGCAGATGGACTGGAGCAAGAAAAACGAACTCTTCAGCAACCTCTGAGCGCCCTGCTGCCACCCAGTGACTGGCAGGGC
CGAGCCAGCATTCCACCCCACCTTTTTCCTTCTCCCCAATTACTCCCCTGAATCAATGTACAAATCAGCACCCACATCCCCTTTCTTGAC
AAATGATTTTTCTAGAGAACTATGTTCTTCCCTGACTTTAGGGAAGGTGAATGTGTTCCCGTCCTCCCGCAGTCAGAAAGGAGACTCTGC
CTCCCTCCTCCTCACTGAGTGCCTCATCCTACCGGGTGTCCCTTTGCCACCCTGCCTGGGACATCGCTGGAACCTGCACCATGCCAGGAT
CATGGGACCAGGCGAGAGGGCACCCTCCCTTCCTCCCCCATGTGATAAATGGGTCCAGGGCTGATCAAAGAACTCTGACTGCAGAACTGC
CGCTCTCAGTGGACAGGGCATCTGTTACCCTGAGACCTGTGGCAGACACGTCTTGTTTTCATTTGATTTTTGTTAAGAGTGCAGTATTGC
AGAGTCTAGAGGAATTTTTGTTTCCTTGATTAACATGATTTTCCTGGTTGTTACATCCAGGGCATGGCAGTGGCCTCAGCCTTAAACTTT
TGTTCCTACTCCCACCCTCAGCGAACTGGGCAGCACGGGGAGGGTTTGGCTACCCCTGCCCATCCCTGAGCCAGGTACCACCATTGTAAG

>In-frame_TBCD_ENST00000539345_chr17_80847573_+_SLC9A3R1_ENST00000262613_chr17_72758151_+_2932nt
CACGTGAGGCGGGGGCGCGGTCCCCAGGCTGCCGAGATGGCCCTGAGCGACGAACCGGCCGCGGGCGGCCCCGAGGAGGAGGCGGAGGAC
GAGACACTGGCCTTTGGCGCGGCGCTGGAAGCGTTCGGCGAGAGCGCGGAGACCCGGGCGCTGCTGGGCCGCCTGCGGGAGGTGCACGGC
GGCGGCGCGGAGCGCGAGGTGGCCCTGGAGCGGTTCCGCGTAATAATGGACAAATACCAGGAGCAGCCTCATCTGTTGGACCCGCACCTT
GAATGGATGATGAACTTGTTGTTGGACATAGTGCAAGATCAGACATCTCCAGCTTCCCTTGTACATCTGGCTTTTAAATTTCTTTACATC
ATCACCAAGGTTCGAGGCTATAAAACATTTCTTCGTTTATTTCCTCATGAAGTTGCCGATGTAGAGCCTGTTTTAGATTTGGTCACAATT
CAGAATCCCAAGGACCATGAAGCTTGGGAAACCCGCTACATGCTTTTGCTCTGGCTCTCCGTGACCTGCCTGATCCCTTTTGATTTTTCT
CGCCTTGACGGGAACCTCCTCACCCAGCCTGGGCAAGCACGAATGTCCATAATGGACCGTATTCTCCAAATAGCAGAGTCCTACTTGATT
GTCAGTGACAAGGCCCGAGATGCAGCTGCTGTCCTTGTGTCCAGATTTATCACACGTCCTGATGTCAAGCAAAGCAAGATGGCTGAGTTC
CTGGACTGGAGCCTGTGCAATCTGGCCCGTTCCTCCTTCCAGACCATGCAGGGGGTCATCACCATGGATGGGACGCTGCAGGCCCTGGCA
CAAATATTTAAACATGGAAAACGTGAAGACTGTTTGCCCTATGCTGCCACTGTCCTCAGGTGCCTCGATGGCTGCAGACTCCCTGAGAGC
AACCAGACCCTGCTGCGGAAGCTGGGGGTGAAGCTTGTGCAGCGACTGGGGCTGACATTCCTGAAGCCGAAGGTGGCAGCATGGAGGTAC
CAGCGTGGCTGCCGATCTTTGGCTGCAAATCTGCAGCTCCTCACTCAGGGTCAGAGTGAGCAGAAGCCACTCATCCTGACCGAAGATGAC
GACGAAGATGACGACGTCCCAGAGGGGGTGGAGCGTGTGATAGAGCAGCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGG
TCTGCAGCCAAGGGCATCGGTAGGATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGT
TTCCAGGAGACTGACAAGGCGTGGCATGGGGGATGTCTGGCGCTGGCAGAGCTGGGCAGGAGAGGCCTGTTGCTGCCGTCTCGACTCGTG
GATGTTGTCGCCGTGATCCTGAAGGCGCTGACCTACGACGAGAAGCGGGGTGCCTGCAGCGTGGGCACCAACGTCAGGGACGCCGCCTGC
TACGTGTGCTGGGCCTTCGCGCGTGCCTATGAGCCTCAGGAGCTGAAGCCCTTTGTGACTGCAATCTCGAGTGCACTGGTGATTGCTGCG
GTGTTTGACCGAGACATAAACTGCAGAAGAGCAGCCTCTGCCGCCTTCCAGGAGAATGTGGGGAGACAGCGCGAGCTTCGGCCTCGGCTC
TGTACCATGAAGAAGGGCCCCAGTGGCTATGGCTTCAACCTGCACAGCGACAAGTCCAAGCCAGGCCAGTTCATCCGGTCAGTGGACCCA
GACTCCCCGGCTGAGGCTTCAGGGCTCCGGGCCCAGGATCGCATTGTGGAGGTGAACGGGGTCTGCATGGAGGGGAAGCAGCATGGGGAC
GTGGTGTCCGCCATCAGGGCTGGCGGGGACGAGACCAAGCTGCTGGTGGTGGACAGGGAAACTGACGAGTTCTTCAAGAAATGCAGAGTG
ATCCCATCTCAGGAGCACCTGAATGGTCCCCTGCCTGTGCCCTTCACCAATGGGGAGATACAGAAGGAGAACAGTCGTGAAGCCCTGGCA
GAGGCAGCCTTGGAGAGCCCCAGGCCAGCCCTGGTGAGATCCGCCTCCAGTGACACCAGCGAGGAGCTGAATTCCCAAGACAGCCCCCCA
AAACAGGACTCCACAGCGCCCTCGTCTACCTCCTCCTCCGACCCCATCCTAGACTTCAACATCTCCCTGGCCATGGCCAAAGAGAGGGCC
CACCAGAAACGCAGCAGCAAACGGGCCCCGCAGATGGACTGGAGCAAGAAAAACGAACTCTTCAGCAACCTCTGAGCGCCCTGCTGCCAC
CCAGTGACTGGCAGGGCCGAGCCAGCATTCCACCCCACCTTTTTCCTTCTCCCCAATTACTCCCCTGAATCAATGTACAAATCAGCACCC
ACATCCCCTTTCTTGACAAATGATTTTTCTAGAGAACTATGTTCTTCCCTGACTTTAGGGAAGGTGAATGTGTTCCCGTCCTCCCGCAGT
CAGAAAGGAGACTCTGCCTCCCTCCTCCTCACTGAGTGCCTCATCCTACCGGGTGTCCCTTTGCCACCCTGCCTGGGACATCGCTGGAAC
CTGCACCATGCCAGGATCATGGGACCAGGCGAGAGGGCACCCTCCCTTCCTCCCCCATGTGATAAATGGGTCCAGGGCTGATCAAAGAAC
TCTGACTGCAGAACTGCCGCTCTCAGTGGACAGGGCATCTGTTACCCTGAGACCTGTGGCAGACACGTCTTGTTTTCATTTGATTTTTGT
TAAGAGTGCAGTATTGCAGAGTCTAGAGGAATTTTTGTTTCCTTGATTAACATGATTTTCCTGGTTGTTACATCCAGGGCATGGCAGTGG
CCTCAGCCTTAAACTTTTGTTCCTACTCCCACCCTCAGCGAACTGGGCAGCACGGGGAGGGTTTGGCTACCCCTGCCCATCCCTGAGCCA


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FusionGenePPI for TBCD_SLC9A3R1


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
TBCDPPP2CA, ARL2, XRCC6, TERF1, ACD, POT1, APP, SMAD9, POLR2I, APEH, HIST1H1C, NASP, NMI, SNX2, STAT3, ACBD3, ATG7, CUL3, GORASP2, GTF2A1, ME1, RPUSD2, SARS, SH3GLB2, STAT1, VPS25, TOM1, TSN, VPS29, WDR12, ABCE1, BSG, TUBB2A, TUBB2B, SCN2B, HTR6, PSMD5, TPM3, TPM4, NTRK1, KRAS, FAF2, TUBB, LRRC4, NCR3LG1, VSIG1, CRYL1, IL1R2, IL17RA, TCP11L1, ZNF146, ZNF836, MTNR1B, TRIM25SLC9A3R1KCNJ1, OPRK1, SLC9A3R1, SLC9A3, PDZK1, CTNNB1, ABCC2, CFTR, PLCB1, YAP1, YES1, ADRB2, GNB2L1, SLC4A8, NOS2, MSN, NF2, TBC1D10A, CLCN3, PTH1R, PDGFRA, PDGFRB, P2RY1, PAG1, EZR, SCN4A, PHLPP2, MME, PTEN, TCF3, UQCRFS1P1, RNASET2, TACC1, UQCRFS1, MDH1, PCYOX1, RPS3, PPME1, PALM2, EPHB1, ABCC4, BCL10, ZNF468, GNA11, CAPN1, CKB, G6PD, LDHB, NANS, RPL23, CNDP2, CSE1L, DAK, ECHS1, FTO, GDA, LDHAL6B, NPEPPS, PDIA3, RPS6KA3, SMEK2, SMS, YWHAB, TGM2, UBFD1, YWHAQ, YWHAZ, SKP2, AKT1, IREB2, NTRK1, SLC4A7, PRKCA, CDCA5, U2AF2, PHLPP1, CDH1, SNRNP27, MAPK1, CDH2, PTPRQ


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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RelatedDrugs for TBCD_SLC9A3R1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TBCD_SLC9A3R1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC9A3R1C2676782Nephrolithiasis-Osteoporosis, Hypophosphatemic, 22CTD_human;UNIPROT