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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: 7121

FusionGeneSummary for CHMP5_GALT

check button Fusion gene summary
Fusion gene informationFusion gene name: CHMP5_GALT
Fusion gene ID: 7121
HgeneTgene
Gene symbol

CHMP5

GALT

Gene ID

51510

2592

Gene namecharged multivesicular body protein 5galactose-1-phosphate uridylyltransferase
SynonymsC9orf83|CGI-34|HSPC177|PNAS-2|SNF7DC2|Vps60-
Cytomap

9p13.3

9p13.3

Type of geneprotein-codingprotein-coding
Descriptioncharged multivesicular body protein 5SNF7 domain containing 2SNF7 domain-containing protein 2apoptosis-related protein PNAS-2chromatin-modifying protein 5hVps60vacuolar protein sorting-associated protein 60galactose-1-phosphate uridylyltransferaseUDP-glucose--hexose-1-phosphate uridylyltransferasegal-1-P uridylyltransferasegalactose-1-phosphate uridyl transferase
Modification date2018052220180519
UniProtAcc

Q9NZZ3

P07902

Ensembl transtripts involved in fusion geneENST00000223500, ENST00000419016, 
ENST00000487080, 
ENST00000450095, 
ENST00000556278, ENST00000378842, 
ENST00000488412, 
Fusion gene scores* DoF score3 X 2 X 2=123 X 2 X 2=12
# samples 33
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHMP5 [Title/Abstract] AND GALT [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
TgeneGALT

GO:0006011

UDP-glucose metabolic process

27005423

TgeneGALT

GO:0006012

galactose metabolic process

27005423


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
TCGALDHNSCTCGA-CR-7376-01ACHMP5chr9

33276562

+GALTchr9

34646674

+
* 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-5UTRENST00000223500ENST00000450095CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-5UTRENST00000223500ENST00000556278CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-5UTRENST00000223500ENST00000378842CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-intronENST00000223500ENST00000488412CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-5UTRENST00000419016ENST00000450095CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-5UTRENST00000419016ENST00000556278CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-5UTRENST00000419016ENST00000378842CHMP5chr9

33276562

+GALTchr9

34646674

+
5CDS-intronENST00000419016ENST00000488412CHMP5chr9

33276562

+GALTchr9

34646674

+
intron-5UTRENST00000487080ENST00000450095CHMP5chr9

33276562

+GALTchr9

34646674

+
intron-5UTRENST00000487080ENST00000556278CHMP5chr9

33276562

+GALTchr9

34646674

+
intron-5UTRENST00000487080ENST00000378842CHMP5chr9

33276562

+GALTchr9

34646674

+
intron-intronENST00000487080ENST00000488412CHMP5chr9

33276562

+GALTchr9

34646674

+

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FusionProtFeatures for CHMP5_GALT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHMP5

Q9NZZ3

GALT

P07902

Probable peripherally associated component of theendosomal sorting required for transport complex III (ESCRT-III)which is involved in multivesicular bodies (MVBs) formation andsorting of endosomal cargo proteins into MVBs. MVBs containintraluminal vesicles (ILVs) that are generated by invaginationand scission from the limiting membrane of the endosome and mostlyare delivered to lysosomes enabling degradation of membraneproteins, such as stimulated growth factor receptors, lysosomalenzymes and lipids. The MVB pathway appears to require thesequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membranebefore the ILV is released. The ESCRT machinery also functions intopologically equivalent membrane fission events, such as theterminal stages of cytokinesis and the budding of envelopedviruses (HIV-1 and other lentiviruses). ESCRT-III proteins arebelieved to mediate the necessary vesicle extrusion and/ormembrane fission activities, possibly in conjunction with the AAAATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release.{ECO:0000269|PubMed:14519844}.

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 CHMP5_GALT


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 CHMP5_GALT


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
CHMP5APPBP2, CAMK2A, VTA1, VPS4A, ISG15, CHMP1B, CHMP4A, CHMP4B, CHMP5, ZNF91, RPL38, PDCD10, GTF3A, ZNF142, URGCP, SMARCA4, ATP6V1B1, UBA2, STAMBP, SNCA, PXN, VPS4B, MITD1, UNK, ACTR6, HABP4, PSMA4, SNRPD2, HIST1H2BG, EWSR1, HNRNPD, AURKA, TFG, SGTB, BAG6, TSG101, RAB5A, RAB7A, CDH1, TCP10L, STMN4, CHMP1A, CHMP3, SH3KBP1, CHMP2AGALTTRIP13, TMED9, TNK2, HLA-DQA1, NRBF2, ARPC3, UBTD2


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 CHMP5_GALT


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 CHMP5_GALT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHMP5C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneGALTC0268151Classical galactosemia20ORPHANET;UNIPROT
TgeneGALTC0016952Galactosemias1CTD_human;HPO