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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: 20537

FusionGeneSummary for MAD1L1_CARD11

check button Fusion gene summary
Fusion gene informationFusion gene name: MAD1L1_CARD11
Fusion gene ID: 20537
HgeneTgene
Gene symbol

MAD1L1

CARD11

Gene ID

8379

84433

Gene namemitotic arrest deficient 1 like 1caspase recruitment domain family member 11
SynonymsMAD1|PIG9|TP53I9|TXBP181BENTA|BIMP3|CARMA1|IMD11|IMD11A|PPBL
Cytomap

7p22.3

7p22.2

Type of geneprotein-codingprotein-coding
Descriptionmitotic 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 protecaspase recruitment domain-containing protein 11CARD-containing MAGUK protein 1bcl10-interacting maguk protein 3carma 1
Modification date2018052320180519
UniProtAcc

Q9Y6D9

Q9BXL7

Ensembl transtripts involved in fusion geneENST00000402746, ENST00000399654, 
ENST00000406869, ENST00000265854, 
ENST00000486340, 
ENST00000396946, 
Fusion gene scores* DoF score4 X 5 X 4=803 X 3 X 3=27
# samples 63
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MAD1L1 [Title/Abstract] AND CARD11 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not 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
HgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940

TgeneCARD11

GO:0031295

T cell costimulation

17287217


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
TCGALDSTADTCGA-VQ-A92D-01AMAD1L1chr7

2054137

-CARD11chr7

2957019

-
* 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
Frame-shitENST00000402746ENST00000396946MAD1L1chr7

2054137

-CARD11chr7

2957019

-
Frame-shitENST00000399654ENST00000396946MAD1L1chr7

2054137

-CARD11chr7

2957019

-
Frame-shitENST00000406869ENST00000396946MAD1L1chr7

2054137

-CARD11chr7

2957019

-
Frame-shitENST00000265854ENST00000396946MAD1L1chr7

2054137

-CARD11chr7

2957019

-
intron-3CDSENST00000486340ENST00000396946MAD1L1chr7

2054137

-CARD11chr7

2957019

-

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FusionProtFeatures for MAD1L1_CARD11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAD1L1

Q9Y6D9

CARD11

Q9BXL7

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}. Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding toDPP4 induces T-cell proliferation and NF-kappa-B activation in aT-cell receptor/CD3-dependent manner. Activates NF-kappa-B viaBCL10 and IKK. Stimulates the phosphorylation of BCL10. Alsoactivates the TORC1 signaling pathway.{ECO:0000269|PubMed:11278692, ECO:0000269|PubMed:11356195,ECO:0000269|PubMed:12356734, ECO:0000269|PubMed:28628108}.

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 MAD1L1_CARD11


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 MAD1L1_CARD11


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
MAD1L1TEX11, NINL, NONO, FAM131C, TRIM29, AMOTL2, TUBGCP4, MAD1L1, MAD2L1, HDAC1, HDAC2, MNT, NRD1, MAD2L1BP, CDC27, COIL, UBC, METTL21C, ZW10, SIN3A, BAG5, FLNB, ZZEF1, CDC20, TPR, TRIP13, ALOX5, TSC22D3, MFAP1, PSMA1, TPM1, TPM3, RNF8, SPATA2, USP15, NEBL, LGALSL, CCHCR1, ZSCAN32, CCDC94, TSHZ3, HAUS1, CWF19L2, CLEC11A, KCNAB3, VPS28, SCARA3, IKZF3, NUDC, STK24, NTRK1, APC, FOXJ2, SNW1, CDC5L, SENP3, PTRF, ZADH2, BMP1, ASB7, HSPA8, C6orf141CARD11BCL10, PDPK1, CBLB, COPS5, GPS1, PRKCQ, MAP3K7, FYB, TAB1, IKBKG, DPP4, CARD11, TRAF6, CASP8, CHUK, PRKCB, STUB1, CCND1, MALT1, USP2, SRPK2, RNF181, PPP2R1A, PPP2CA, CSNK1A1, USP18, RNF31, PRKCD, TAB3


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 MAD1L1_CARD11


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 MAD1L1_CARD11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAD1L1C0036341Schizophrenia1PSYGENET
HgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
HgeneMAD1L1C3495559Juvenile arthritis1CTD_human
TgeneCARD11C0036920Sezary Syndrome2CTD_human
TgeneCARD11C0079744Diffuse Large B-Cell Lymphoma2CTD_human
TgeneCARD11C0007134Renal Cell Carcinoma1CTD_human
TgeneCARD11C0011615Dermatitis, Atopic1CTD_human
TgeneCARD11C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneCARD11C0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneCARD11C1847973Persistent Polyclonal B-Cell Lymphocytosis1ORPHANET;UNIPROT