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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: 14783

FusionGeneSummary for GMCL1_ANXA4

check button Fusion gene summary
Fusion gene informationFusion gene name: GMCL1_ANXA4
Fusion gene ID: 14783
HgeneTgene
Gene symbol

GMCL1

ANXA4

Gene ID

64395

307

Gene namegerm cell-less, spermatogenesis associated 1annexin A4
SynonymsBTBD13|GCL|GCL1|SPATA29ANX4|HEL-S-274|P32.5|PAP-II|PIG28|PP4-X|ZAP36
Cytomap

2p13.3

2p13.3

Type of geneprotein-codingprotein-coding
Descriptiongerm cell-less protein-like 1germ cell-less homolog 1spermatogenesis associated 29annexin A435-beta calcimedinannexin IV (placental anticoagulant protein II)annexin-4carbohydrate-binding protein p33/p41chromobindin-4endonexin Iepididymis secretory protein Li 274lipocortin IVplacental anticoagulant protein IIproliferation-indu
Modification date2018052220180519
UniProtAcc

Q96IK5

P09525

Ensembl transtripts involved in fusion geneENST00000282570, ENST00000468386, 
ENST00000418066, ENST00000409920, 
ENST00000394295, ENST00000536030, 
Fusion gene scores* DoF score2 X 1 X 3=68 X 3 X 7=168
# samples 310
** MAII scorelog2(3/6*10)=2.32192809488736log2(10/168*10)=-0.748461233004036
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GMCL1 [Title/Abstract] AND ANXA4 [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
TgeneANXA4

GO:0006357

regulation of transcription by RNA polymerase II

20237821

TgeneANXA4

GO:0032088

negative regulation of NF-kappaB transcription factor activity

20237821


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
TCGARVLUADTCGA-69-8255-01AGMCL1chr2

70057284

+ANXA4chr2

70008652

+
TCGARVSTADTCGA-BR-8289-01AGMCL1chr2

70057284

+ANXA4chr2

70008652

+
* 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-3UTRENST00000282570ENST00000418066GMCL1chr2

70057284

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000282570ENST00000409920GMCL1chr2

70057284

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000282570ENST00000394295GMCL1chr2

70057284

+ANXA4chr2

70008652

+
5CDS-5UTRENST00000282570ENST00000536030GMCL1chr2

70057284

+ANXA4chr2

70008652

+
3UTR-3UTRENST00000468386ENST00000418066GMCL1chr2

70057284

+ANXA4chr2

70008652

+
3UTR-5UTRENST00000468386ENST00000409920GMCL1chr2

70057284

+ANXA4chr2

70008652

+
3UTR-5UTRENST00000468386ENST00000394295GMCL1chr2

70057284

+ANXA4chr2

70008652

+
3UTR-5UTRENST00000468386ENST00000536030GMCL1chr2

70057284

+ANXA4chr2

70008652

+

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FusionProtFeatures for GMCL1_ANXA4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GMCL1

Q96IK5

ANXA4

P09525

Possible function in spermatogenesis. Enhances thedegradation of MDM2 and increases the amount of p53 probably bymodulating the nucleocytoplasmic transport (By similarity).{ECO:0000250}. Calcium/phospholipid-binding protein which promotesmembrane fusion and is involved in exocytosis. {ECO:0000250}.

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 GMCL1_ANXA4


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 GMCL1_ANXA4


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
GMCL1EMD, ELAVL1, CUL3, GAGE12I, BYSL, C21orf2, CLK2, FKBP1B, FOSL2, GAGE1, GAGE5, KIFC3, KPNA2, MID1, MTRR, NUMA1, PAX4, PTPN7, STK3, TCEB3, SUMO1, XAGE2, TSSC4, TRIM13, TRIM38, KAT5, NEBL, GLRX3, MORF4L1, MID2, RAD54B, CHIC2, GAGE2E, SLC15A3, SYT17, QRICH1, PARP16, SHQ1, CCDC25, FAM63A, TRIM54, PBXIP1, GRAMD1A, ZNF250, GMCL1, GMCL1P1, MPPE1, APOL6, FAM167A, PARD6B, IL17F, CIB3, FRMD6, HYKK, SNX20, XAGE3, APLF, FOXR1, C5orf60, SUMO1P1, GAGE12B, MBIP, KLK7, JUP, IVL, HAL, TGM1, SBSN, A2ML1, SULT2B1, XIAP, CALML3, FLG, DSC2, GM2A, CPA4, POF1B, ALOX12B, SERPINA12, SERPINB13, PLBD1, ECM1, S100A14, KLK10, CAPNS2, TYMP, SUCO, P2RX1, SYT12, CLCC1, MBLAC2, NCOA4, TMX1, IL17RC, ETFB, CCKBR, RNASE7, CRYAB, S100A2ANXA4NFKB1, H2AFX, UCHL5, SMPD1, NMT2, TINF2, POT1, DNAJB11, ANXA7, MPST, ANXA3, ANXA1, PADI4, EZH2, RAB8A, RHOU, CDH1, SF3A3


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 GMCL1_ANXA4


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 GMCL1_ANXA4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneANXA4C0007134Renal Cell Carcinoma1CTD_human
TgeneANXA4C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneANXA4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneANXA4C0023903Liver neoplasms1CTD_human
TgeneANXA4C0024667Animal Mammary Neoplasms1CTD_human
TgeneANXA4C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneANXA4C0027627Neoplasm Metastasis1CTD_human
TgeneANXA4C0032927Precancerous Conditions1CTD_human
TgeneANXA4C0033578Prostatic Neoplasms1CTD_human
TgeneANXA4C2239176Liver carcinoma1CTD_human