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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: 40073

FusionGeneSummary for TTYH3_MAD1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: TTYH3_MAD1L1
Fusion gene ID: 40073
HgeneTgene
Gene symbol

TTYH3

MAD1L1

Gene ID

80727

8379

Gene nametweety family member 3mitotic arrest deficient 1 like 1
Synonyms-MAD1|PIG9|TP53I9|TXBP181
Cytomap

7p22.3

7p22.3

Type of geneprotein-codingprotein-coding
Descriptionprotein tweety homolog 3hTTY3tweety homolog 3mitotic 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 date2018052320180523
UniProtAcc

Q9C0H2

Q9Y6D9

Ensembl transtripts involved in fusion geneENST00000258796, ENST00000407643, 
ENST00000403167, ENST00000477439, 
ENST00000402746, ENST00000399654, 
ENST00000406869, ENST00000265854, 
ENST00000486340, 
Fusion gene scores* DoF score10 X 9 X 5=45010 X 12 X 9=1080
# samples 1418
** MAII scorelog2(14/450*10)=-1.68449817427207
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: TTYH3 [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
HgeneTTYH3

GO:0006821

chloride transport

16219661

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
TCGARVLAMLTCGA-AB-2811-03BTTYH3chr7

2671912

+MAD1L1chr7

1938026

-
TCGARVSKCMTCGA-3N-A9WD-06ATTYH3chr7

2671912

+MAD1L1chr7

1938026

-
TCGARVSKCMTCGA-FS-A1YW-06ATTYH3chr7

2686656

+MAD1L1chr7

1976533

-
TCGARVSKCMTCGA-Z2-AA3V-06ATTYH3chr7

2671912

+MAD1L1chr7

1855864

-
* 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-shitENST00000258796ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000258796ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000258796ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000258796ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
5CDS-intronENST00000258796ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000407643ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000407643ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000407643ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000407643ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
5CDS-intronENST00000407643ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000403167ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000403167ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000403167ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000403167ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-intronENST00000403167ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000477439ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000477439ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000477439ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-3CDSENST00000477439ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
intron-intronENST00000477439ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1938026

-
Frame-shitENST00000258796ENST00000402746TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000258796ENST00000399654TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000258796ENST00000406869TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000258796ENST00000265854TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
5CDS-intronENST00000258796ENST00000486340TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000407643ENST00000402746TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000407643ENST00000399654TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000407643ENST00000406869TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000407643ENST00000265854TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
5CDS-intronENST00000407643ENST00000486340TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000403167ENST00000402746TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000403167ENST00000399654TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000403167ENST00000406869TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000403167ENST00000265854TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-intronENST00000403167ENST00000486340TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000477439ENST00000402746TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000477439ENST00000399654TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000477439ENST00000406869TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-3CDSENST00000477439ENST00000265854TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
intron-intronENST00000477439ENST00000486340TTYH3chr7

2686656

+MAD1L1chr7

1976533

-
Frame-shitENST00000258796ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
In-frameENST00000258796ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
Frame-shitENST00000258796ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
Frame-shitENST00000258796ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
5CDS-intronENST00000258796ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
Frame-shitENST00000407643ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
In-frameENST00000407643ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
Frame-shitENST00000407643ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
Frame-shitENST00000407643ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
5CDS-intronENST00000407643ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000403167ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000403167ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000403167ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000403167ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-intronENST00000403167ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000477439ENST00000402746TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000477439ENST00000399654TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000477439ENST00000406869TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-3CDSENST00000477439ENST00000265854TTYH3chr7

2671912

+MAD1L1chr7

1855864

-
intron-intronENST00000477439ENST00000486340TTYH3chr7

2671912

+MAD1L1chr7

1855864

-

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FusionProtFeatures for TTYH3_MAD1L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTYH3

Q9C0H2

MAD1L1

Q9Y6D9

Probable large-conductance Ca(2+)-activated chloridechannel. May play a role in Ca(2+) signal transduction.{ECO:0000269|PubMed:15010458}. 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


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FusionGeneSequence for TTYH3_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.
>In-frame_TTYH3_ENST00000258796_chr7_2671912_+_MAD1L1_ENST00000399654_chr7_1855864_-_94aa
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIPAFLSSLTLELFSRQ

>In-frame_TTYH3_ENST00000407643_chr7_2671912_+_MAD1L1_ENST00000399654_chr7_1855864_-_94aa
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIPAFLSSLTLELFSRQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TTYH3_ENST00000258796_chr7_2671912_+_MAD1L1_ENST00000399654_chr7_1855864_-_282nt
ATGGCCGGGGTCAGCTACGCGGCGCCCTGGTGGGTGAGCCTCCTGCACCGGCTGCCCCACTTCGACCTGAGCTGGGAGGCCACTAGCAGC
CAGTTCCGGCCCGAGGACACCGACTACCAGCAGGCCACCAGCCCCTCGGGTTCCAAGATGCAGCTACTGGAGACAGAGTTCTCACACACC
GTGGGCGAGCTCATCGAGGTGCACCTGCGGCGCCAGGACAGCATCCCTGCCTTCCTCAGCTCGCTCACCCTCGAGCTCTTCAGCCGCCAG

>In-frame_TTYH3_ENST00000407643_chr7_2671912_+_MAD1L1_ENST00000399654_chr7_1855864_-_282nt
ATGGCCGGGGTCAGCTACGCGGCGCCCTGGTGGGTGAGCCTCCTGCACCGGCTGCCCCACTTCGACCTGAGCTGGGAGGCCACTAGCAGC
CAGTTCCGGCCCGAGGACACCGACTACCAGCAGGCCACCAGCCCCTCGGGTTCCAAGATGCAGCTACTGGAGACAGAGTTCTCACACACC
GTGGGCGAGCTCATCGAGGTGCACCTGCGGCGCCAGGACAGCATCCCTGCCTTCCTCAGCTCGCTCACCCTCGAGCTCTTCAGCCGCCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_TTYH3_ENST00000258796_chr7_2671912_+_MAD1L1_ENST00000399654_chr7_1855864_-_763nt
CGGCGAACAAAGAGGCGGCGGGCGCGGGCGGCCGAGCGGAGCCGAGCGCAGCCGAGCCGGGCCGAGCCGGGCCGGGCCGGGCCCAGGAGC
GCGCGGATGATGCGGGCGGCCAGGCGGGGGTCGACGGGTCCCTGAAGCCCGCGCCCCGGGCCAGCAAGGGAGCCCCGCGCAGGCCGCGCG
CATCCGGAGGCGGCCGGGCCCCGCCATGGCCGGGGTCAGCTACGCGGCGCCCTGGTGGGTGAGCCTCCTGCACCGGCTGCCCCACTTCGA
CCTGAGCTGGGAGGCCACTAGCAGCCAGTTCCGGCCCGAGGACACCGACTACCAGCAGGCCACCAGCCCCTCGGGTTCCAAGATGCAGCT
ACTGGAGACAGAGTTCTCACACACCGTGGGCGAGCTCATCGAGGTGCACCTGCGGCGCCAGGACAGCATCCCTGCCTTCCTCAGCTCGCT
CACCCTCGAGCTCTTCAGCCGCCAGACCGTGGCGTAGCCTGCAGGCTCGGGGGCATAGCCGGAGCCACTCTGCTTGGCCTGACCTGCAGG
TCCCCTGCCCCGCCAGCCACAGGCTGGGTGCACGTCCTGCCTCTCCAGCCCCACAGGGCAGCAGCATGACTGACAGACACGCTGGGACCT
ACGTCGGGCTTCCTGCTGGGGCGGCCAGCACCCTCTCCACGTGCAGACCCCATGCGTCCCGGAGCCTGGTGTGTGGGCGTCGGCCACCAG

>In-frame_TTYH3_ENST00000407643_chr7_2671912_+_MAD1L1_ENST00000399654_chr7_1855864_-_558nt
ATGGCCGGGGTCAGCTACGCGGCGCCCTGGTGGGTGAGCCTCCTGCACCGGCTGCCCCACTTCGACCTGAGCTGGGAGGCCACTAGCAGC
CAGTTCCGGCCCGAGGACACCGACTACCAGCAGGCCACCAGCCCCTCGGGTTCCAAGATGCAGCTACTGGAGACAGAGTTCTCACACACC
GTGGGCGAGCTCATCGAGGTGCACCTGCGGCGCCAGGACAGCATCCCTGCCTTCCTCAGCTCGCTCACCCTCGAGCTCTTCAGCCGCCAG
ACCGTGGCGTAGCCTGCAGGCTCGGGGGCATAGCCGGAGCCACTCTGCTTGGCCTGACCTGCAGGTCCCCTGCCCCGCCAGCCACAGGCT
GGGTGCACGTCCTGCCTCTCCAGCCCCACAGGGCAGCAGCATGACTGACAGACACGCTGGGACCTACGTCGGGCTTCCTGCTGGGGCGGC
CAGCACCCTCTCCACGTGCAGACCCCATGCGTCCCGGAGCCTGGTGTGTGGGCGTCGGCCACCAGCCTGGGTTCCTCACCTTGTGAAATA


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FusionGenePPI for TTYH3_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
TTYH3NEDD4, MAPK3, ELAVL1, LYN, CD27, ASGR2, TMEM171, P2RY12, DHRS9, LMAN2, FAM189A2, FAM134C, CD70, GPR141, CDKAL1, LPAR1, UXS1, TMEM206, PTGIR, S1PR1, SLCO6A1, TNFRSF1A, GYPB, IPPK, FPR2, PTPRNMAD1L1TEX11, 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, C6orf141


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 TTYH3_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

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RelatedDiseases for TTYH3_MAD1L1


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