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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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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 38347

FusionGeneSummary for TMEM104_SLC9A3R1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM104_SLC9A3R1
Fusion gene ID: 38347
HgeneTgene
Gene symbol

TMEM104

SLC9A3R1

Gene ID

54868

9368

Gene nametransmembrane protein 104SLC9A3 regulator 1
Synonyms-EBP50|NHERF|NHERF-1|NHERF1|NPHLOP2
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 104Na(+)/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 date2018051920180522
UniProtAcc

Q8NE00

O14745

Ensembl transtripts involved in fusion geneENST00000335464, ENST00000417024, 
ENST00000582773, ENST00000582330, 
ENST00000584171, 		ENST00000262613, 
ENST00000413388, 
Fusion gene scores* DoF score5 X 3 X 5=754 X 3 X 4=48
# samples 56
** MAII scorelog2(5/75*10)=-0.584962500721156
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: TMEM104 [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
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
TCGARVUCECTCGA-EO-A3AS-01ATMEM104chr17

72773514

+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-frameENST00000335464ENST00000262613TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000335464ENST00000413388TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
In-frameENST00000417024ENST00000262613TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000417024ENST00000413388TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
In-frameENST00000582773ENST00000262613TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000582773ENST00000413388TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
In-frameENST00000582330ENST00000262613TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
5CDS-5UTRENST00000582330ENST00000413388TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
intron-3CDSENST00000584171ENST00000262613TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+
intron-5UTRENST00000584171ENST00000413388TMEM104chr17

72773514

+SLC9A3R1chr17

72758151

+

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FusionProtFeatures for TMEM104_SLC9A3R1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM104

Q8NE00

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
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+2101_1015497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+2101_1015497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+2101_1015315Topological domainCytoplasmic
TgeneSLC9A3R1chr17:72773514chr17:72758151ENST00000262613+06154_234147359DomainPDZ 2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210168_20415497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210226_23315497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210255_27615497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210298_30615497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210328_35415497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+21032_3615497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210376_39715497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210419_42115497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210443_47015497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210492_49615497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+21058_14615497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210168_20415497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210226_23315497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210255_27615497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210298_30615497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210328_35415497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+21032_3615497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210376_39715497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210419_42115497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210443_47015497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210492_49615497Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+21058_14615497Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210168_20415315Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210226_23315315Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210255_27615315Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210298_30615315Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210328_35415315Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+21032_3615315Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210376_39715315Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210419_42115315Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210443_47015315Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210492_49615315Topological domainExtracellular
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+21058_14615315Topological domainCytoplasmic
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+21011_3115497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210147_16715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210205_22515497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210234_25415497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210277_29715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210307_32715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210355_37515497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+21037_5715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210398_41815497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210422_44215497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000335464+210471_49115497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+21011_3115497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210147_16715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210205_22515497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210234_25415497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210277_29715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210307_32715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210355_37515497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+21037_5715497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210398_41815497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210422_44215497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582330+210471_49115497TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+21011_3115315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210147_16715315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210205_22515315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210234_25415315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210277_29715315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210307_32715315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210355_37515315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+21037_5715315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210398_41815315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210422_44215315TransmembraneHelical
HgeneTMEM104chr17:72773514chr17:72758151ENST00000582773+210471_49115315TransmembraneHelical
TgeneSLC9A3R1chr17:72773514chr17:72758151ENST00000262613+0614_94147359DomainPDZ 1


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FusionGeneSequence for TMEM104_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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TMEM104_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
TMEM104USP36, HTR3C, SLC22A16SLC9A3R1KCNJ1, 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 TMEM104_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 TMEM104_SLC9A3R1


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