FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 2182

FusionGeneSummary for APLP2_MAD1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: APLP2_MAD1L1
Fusion gene ID: 2182
HgeneTgene
Gene symbol

APLP2

MAD1L1

Gene ID

334

8379

Gene nameamyloid beta precursor like protein 2mitotic arrest deficient 1 like 1
SynonymsAPLP-2|APPH|APPL2|CDEBPMAD1|PIG9|TP53I9|TXBP181
Cytomap

11q24.3

7p22.3

Type of geneprotein-codingprotein-coding
Descriptionamyloid-like protein 2CDEI box-binding proteinamyloid beta (A4) precursor-like protein 2amyloid precursor protein homolog HSD-2testicular tissue protein Li 23mitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote
Modification date2018051920180523
UniProtAcc

Q06481

Q9Y6D9

Ensembl transtripts involved in fusion geneENST00000532456, ENST00000539648, 
ENST00000528499, ENST00000263574, 
ENST00000345598, ENST00000338167, 
ENST00000278756, ENST00000543137, 
ENST00000402746, ENST00000399654, 
ENST00000406869, ENST00000265854, 
ENST00000486340, 
Fusion gene scores* DoF score24 X 17 X 11=448810 X 12 X 9=1080
# samples 2918
** MAII scorelog2(29/4488*10)=-3.95194787059386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1080*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APLP2 [Title/Abstract] AND MAD1L1 [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
TgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940


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
ChiTaRS3.1BP359675APLP2chr11

129980509

+MAD1L1chr7

2272554

-
* 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
3UTR-5UTRENST00000532456ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
3UTR-5UTRENST00000532456ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
3UTR-5UTRENST00000532456ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
3UTR-5UTRENST00000532456ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
3UTR-intronENST00000532456ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
intron-5UTRENST00000539648ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
intron-5UTRENST00000539648ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
intron-5UTRENST00000539648ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
intron-5UTRENST00000539648ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
intron-intronENST00000539648ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000528499ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000528499ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000528499ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000528499ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-intronENST00000528499ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000263574ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000263574ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000263574ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000263574ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-intronENST00000263574ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000345598ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000345598ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000345598ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000345598ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-intronENST00000345598ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000338167ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000338167ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000338167ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000338167ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-intronENST00000338167ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000278756ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000278756ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000278756ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000278756ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-intronENST00000278756ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000543137ENST00000402746APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000543137ENST00000399654APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000543137ENST00000406869APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-5UTRENST00000543137ENST00000265854APLP2chr11

129980509

+MAD1L1chr7

2272554

-
5CDS-intronENST00000543137ENST00000486340APLP2chr11

129980509

+MAD1L1chr7

2272554

-

Top

FusionProtFeatures for APLP2_MAD1L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APLP2

Q06481

MAD1L1

Q9Y6D9

Component of the spindle-assembly checkpoint thatprevents the onset of anaphase until all chromosomes are properlyaligned at the metaphase plate. May recruit MAD2L1 to unattachedkinetochores. Has a role in the correct positioning of the septum.Required for anchoring MAD2L1 to the nuclear periphery. Binds tothe TERT promoter and represses telomerase expression, possibly byinterfering with MYC binding. {ECO:0000269|PubMed:10049595,ECO:0000269|PubMed:12837246, ECO:0000269|PubMed:20133940}.

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


Top

FusionGeneSequence for APLP2_MAD1L1


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).

Top

FusionGenePPI for APLP2_MAD1L1


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


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


Top

RelatedDrugs for APLP2_MAD1L1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAPLP2Q06481DB01593ZincAmyloid-like protein 2small moleculeapproved|investigational

Top

RelatedDiseases for APLP2_MAD1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPLP2C0027746Nerve Degeneration1CTD_human
HgeneAPLP2C0151744Myocardial Ischemia1CTD_human
TgeneMAD1L1C0036341Schizophrenia1PSYGENET
TgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
TgeneMAD1L1C3495559Juvenile arthritis1CTD_human