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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: 38829

FusionGeneSummary for TMX2_PICALM

check button Fusion gene summary
Fusion gene informationFusion gene name: TMX2_PICALM
Fusion gene ID: 38829
HgeneTgene
Gene symbol

TMX2

PICALM

Gene ID

51075

8301

Gene namethioredoxin related transmembrane protein 2phosphatidylinositol binding clathrin assembly protein
SynonymsCGI-31|PDIA12|PIG26|TXNDC14CALM|CLTH|LAP
Cytomap

11q12.1

11q14.2

Type of geneprotein-codingprotein-coding
Descriptionthioredoxin-related transmembrane protein 2cell proliferation-inducing gene 26 proteingrowth-inhibiting gene 11protein disulfide isomerase family A, member 12thioredoxin domain-containing protein 14phosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia protein
Modification date2018051920180523
UniProtAcc

Q9Y320

Q13492

Ensembl transtripts involved in fusion geneENST00000378312, ENST00000278422, 
ENST00000532317, ENST00000526033, 
ENST00000393346, ENST00000528398, 
ENST00000356360, ENST00000528411, 
Fusion gene scores* DoF score4 X 2 X 3=247 X 12 X 4=336
# samples 414
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(14/336*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMX2 [Title/Abstract] AND PICALM [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and 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
TgenePICALM

GO:0006898

receptor-mediated endocytosis

10436022

TgenePICALM

GO:0032880

regulation of protein localization

10436022

TgenePICALM

GO:0045893

positive regulation of transcription, DNA-templated

11425879

TgenePICALM

GO:0048261

negative regulation of receptor-mediated endocytosis

10436022


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
ChiTaRS3.1DA224788TMX2chr11

57505140

+PICALMchr11

85742653

-
* 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-frameENST00000378312ENST00000532317TMX2chr11

57505140

+PICALMchr11

85742653

-
In-frameENST00000378312ENST00000526033TMX2chr11

57505140

+PICALMchr11

85742653

-
In-frameENST00000378312ENST00000393346TMX2chr11

57505140

+PICALMchr11

85742653

-
5CDS-5UTRENST00000378312ENST00000528398TMX2chr11

57505140

+PICALMchr11

85742653

-
5CDS-5UTRENST00000378312ENST00000356360TMX2chr11

57505140

+PICALMchr11

85742653

-
5CDS-5UTRENST00000378312ENST00000528411TMX2chr11

57505140

+PICALMchr11

85742653

-
In-frameENST00000278422ENST00000532317TMX2chr11

57505140

+PICALMchr11

85742653

-
In-frameENST00000278422ENST00000526033TMX2chr11

57505140

+PICALMchr11

85742653

-
In-frameENST00000278422ENST00000393346TMX2chr11

57505140

+PICALMchr11

85742653

-
5CDS-5UTRENST00000278422ENST00000528398TMX2chr11

57505140

+PICALMchr11

85742653

-
5CDS-5UTRENST00000278422ENST00000356360TMX2chr11

57505140

+PICALMchr11

85742653

-
5CDS-5UTRENST00000278422ENST00000528411TMX2chr11

57505140

+PICALMchr11

85742653

-

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FusionProtFeatures for TMX2_PICALM


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMX2

Q9Y320

PICALM

Q13492

Assembly protein recruiting clathrin and adapter proteincomplex 2 (AP2) to cell membranes at sites of coated-pit formationand clathrin-vesicle assembly. May be required to determine theamount of membrane to be recycled, possibly by regulating the sizeof the clathrin cage. Involved in AP2-dependent clathrin-mediatedendocytosis at the neuromuscular junction.{ECO:0000269|PubMed:10436022}.

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
TgenePICALMchr11:57505140chr11:85742653ENST00000528398-01914_145-8552DomainENTH

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMX2chr11:57505140chr11:85742653ENST00000278422+28114_26983297DomainThioredoxin
HgeneTMX2chr11:57505140chr11:85742653ENST00000378312+27114_26983259DomainThioredoxin
HgeneTMX2chr11:57505140chr11:85742653ENST00000278422+28293_29683297MotifNote=Di-lysine motif
HgeneTMX2chr11:57505140chr11:85742653ENST00000378312+27293_29683259MotifNote=Di-lysine motif
HgeneTMX2chr11:57505140chr11:85742653ENST00000278422+28126_29683297Topological domainCytoplasmic
HgeneTMX2chr11:57505140chr11:85742653ENST00000278422+2849_10283297Topological domainExtracellular
HgeneTMX2chr11:57505140chr11:85742653ENST00000378312+27126_29683259Topological domainCytoplasmic
HgeneTMX2chr11:57505140chr11:85742653ENST00000378312+2749_10283259Topological domainExtracellular
HgeneTMX2chr11:57505140chr11:85742653ENST00000278422+28103_12583297TransmembraneHelical
HgeneTMX2chr11:57505140chr11:85742653ENST00000378312+27103_12583259TransmembraneHelical
TgenePICALMchr11:57505140chr11:85742653ENST00000356360-01914_14543633DomainENTH
TgenePICALMchr11:57505140chr11:85742653ENST00000393346-02014_14543653DomainENTH
TgenePICALMchr11:57505140chr11:85742653ENST00000526033-02014_14543646DomainENTH
TgenePICALMchr11:57505140chr11:85742653ENST00000532317-02014_14543611DomainENTH


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FusionGeneSequence for TMX2_PICALM


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 TMX2_PICALM


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
TMX2COMMD8, ABCC1, HNRNPU, TM9SF4, SRSF5, ATXN1, SRPRB, HSD11B1, PEX19, NDUFV3, NDUFA7, KCNK16, GINM1, PTH1R, HTR3C, CHRNA9, CNGA3, SLC4A8, ZNRF4, ASIC4, TLR5, KCNA5, SLC39A8, MTNR1A, TRIM25PICALMPLCG1, CLTC, ITSN1, AP2A1, HIP1R, LAMTOR3, EEF1A1, SEC24D, DNM2, EGFR, FLOT1, SEC24C, ATP6V1E1, ILF3, HNRNPDL, SH3GLB2, ABCC2, ATP6V1F, CD55, SIRT1, FN1, VCAM1, ITGA4, PELI2, KLHL20, SLC25A41, ITLN1, ATF6B, SLC25A32, SOX2, FAM64A, CYP1A1, HNRNPA1, UNK, NTRK1, C14orf166, CARS, CPPED1, HNRNPD, ILVBL, ITGB1, LPP, PAPOLA, DDX1, EWSR1, FERMT2, FUS, ILK, NPLOC4, PFKM, PTPRF, VCL, PXN, STXBP1, TRIM25, UNC13D, XPO1, AP2B1, AP2M1, CLTA, CLTB, DAB2, EPS15, GAK, MYO6, PIK3C2A, SEC13, CLTCL1, CAPZA2, DBN1, MYH9, LIMA1, GTSE1, ANLN, MYO19, MYO18A, CLINT1, SEC16A, TNRC6A, BMP2K, MICAL3, DENND1A, WNK1, PRRC2B, STON2, FCHO2, MCM2, SNW1, CDC5L, SMURF1, CDH1, STAMBPL1, RALBP1, SNRNP27, DLST


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgenePICALMchr11:57505140chr11:85742653ENST00000356360-019221_29443633PIMREG
TgenePICALMchr11:57505140chr11:85742653ENST00000393346-020221_29443653PIMREG
TgenePICALMchr11:57505140chr11:85742653ENST00000526033-020221_29443646PIMREG
TgenePICALMchr11:57505140chr11:85742653ENST00000528398-019221_294-8552PIMREG
TgenePICALMchr11:57505140chr11:85742653ENST00000532317-020221_29443611PIMREG


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 TMX2_PICALM


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 TMX2_PICALM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePICALMC0002395Alzheimer's Disease2CTD_human