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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: 27032

FusionGeneSummary for PHTF2_RAB1A

check button Fusion gene summary
Fusion gene informationFusion gene name: PHTF2_RAB1A
Fusion gene ID: 27032
HgeneTgene
Gene symbol

PHTF2

RAB1A

Gene ID

57157

5861

Gene nameputative homeodomain transcription factor 2RAB1A, member RAS oncogene family
Synonyms-RAB1|YPT1
Cytomap

7q11.23-q21.11

2p14

Type of geneprotein-codingprotein-coding
Descriptionputative homeodomain transcription factor 2ras-related protein Rab-1AGTP binding protein Rab1aRAB1, member RAS oncogene familyRab GTPase YPT1 homologYPT1-related protein
Modification date2018051920180523
UniProtAcc

Q8N3S3

P62820

Ensembl transtripts involved in fusion geneENST00000422959, ENST00000307305, 
ENST00000424760, ENST00000415251, 
ENST00000275575, ENST00000450574, 
ENST00000416283, ENST00000248550, 
ENST00000454592, 		ENST00000494188, 
ENST00000409892, ENST00000409784, 
ENST00000398529, ENST00000409751, 
ENST00000260638, ENST00000356214, 
Fusion gene scores* DoF score5 X 4 X 4=806 X 4 X 6=144
# samples 57
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHTF2 [Title/Abstract] AND RAB1A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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 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-AR-A0U4-01APHTF2chr7

77469617

+RAB1Achr2

65316204

-
* 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
5CDS-intronENST00000422959ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000422959ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000422959ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000422959ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000422959ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000422959ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000422959ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000307305ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000424760ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000415251ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000275575ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000450574ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000416283ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
5CDS-intronENST00000248550ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000494188PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000409892PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000409784PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000398529PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000409751PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000260638PHTF2chr7

77469617

+RAB1Achr2

65316204

-
intron-intronENST00000454592ENST00000356214PHTF2chr7

77469617

+RAB1Achr2

65316204

-

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FusionProtFeatures for PHTF2_RAB1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHTF2

Q8N3S3

RAB1A

P62820

The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different sets of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. RAB1A regulates vesicular protein transportfrom the endoplasmic reticulum (ER) to the Golgi compartment andon to the cell surface, and plays a role in IL-8 and growthhormone secretion. Regulates the level of CASR present at the cellmembrane. Plays a role in cell adhesion and cell migration, viaits role in protein trafficking. Plays a role in autophagosomeassembly and cellular defense reactions against pathogenicbacteria. Plays a role in microtubule-dependent protein transportby early endosomes and in anterograde melanosome transport.{ECO:0000269|PubMed:20639577, ECO:0000269|PubMed:20861236,ECO:0000269|PubMed:21303926, ECO:0000269|PubMed:22939626}.

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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FusionGeneSequence for PHTF2_RAB1A


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 PHTF2_RAB1A


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
PHTF2ELAVL1, LYPD3, GPR156, TRIM25RAB1ARABAC1, GOLGA2, MICAL1, RABIF, GOLGA5, CAPNS1, CREB1, FSCN1, HIVEP1, SLC16A8, TBC1D17, CDKN1A, RFK, CHML, USO1, CHM, RABEP1, ELAVL1, ARRB1, RAB11B, RAB7A, GDI1, GDI2, RAB11A, RAB31, HNRNPA1L2, RAP1A, PTBP1, HNRNPA3, IQCB1, UBL4A, BAG3, ATP4A, ATP6V1A, MTPN, PCYT2, PDIA3, ENO2, GMPS, MTAP, PNP, TUBB4B, RPA1, RPA2, RPA3, ASB5, ASB9, SART3, RUSC2, CUL7, CCDC8, OCRL, ULK1, RAB1B, UNK, ATP1A1, ATP1A2, ATP1A3, ATP1B1, ATP5H, BCAP31, CCDC47, CYC1, DNAJA3, ETFA, HNRNPA1, HSD17B12, IPO9, KDSR, LDHA, LDHAL6B, LDHB, LDHC, LRPPRC, NDUFB8, NDUFB9, PHB, PHPT1, AHSA1, ARF1, ATP1B3, CANX, CDC42, CLGN, DUT, FUBP1, ILVBL, MTCH2, NDUFS8, PLIN3, PRRC1, RAB5A, RAB5B, RAB5C, RANBP1, RAP2C, SLC25A3, SSRP1, STMN1, TECR, TM9SF4, TOMM70A, TXN, RAB2A, RAB6A, RAB6B, RDH13, RER1, RPN1, RPN2, STOML2, STX12, STX7, TMCO1, TMED2, UBE2K, UQCRC2, UQCRQ, VAPA, VDAC2, TCTN2, TCTN3, CAPZA2, DBN1, ATL3, LIMA1, GTSE1, MTOR, RPTOR, CSNK1D, TRAPPC2L, VPS51, TMED10, TSSC1, PTAR1, SEC23IP, COG5, RAB18, VPS52, TRAPPC12, JTB, COG8, RIC1, COG3, COG7, VPS53, TRAPPC13, VPS54, CDC73, CDH1, EGFR, RAB8A, VPS13C, EEF1A2, RABGGTA, RAB2B, DLD, DLST, PARK7, PDHA1, G3BP1, HEY1


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 PHTF2_RAB1A


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 PHTF2_RAB1A


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