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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:TTYH3-MAD1L1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: TTYH3-MAD1L1
FusionPDB ID: 95260
FusionGDB2.0 ID: 95260
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 date2020031320200313
UniProtAcc.

Q9Y6D9

Ensembl transtripts involved in fusion geneENST idsENST00000258796, ENST00000407643, 
ENST00000403167, ENST00000477439, 
ENST00000486340, ENST00000265854, 
ENST00000399654, ENST00000402746, 
ENST00000406869, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 12 X 7=117623 X 16 X 12=4416
# samples 1837
** MAII scorelog2(18/1176*10)=-2.70781924850669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(37/4416*10)=-3.57714299626186
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: TTYH3 [Title/Abstract] AND MAD1L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)TTYH3(2671912)-MAD1L1(1855864), # samples:5
TTYH3(2671912)-MAD1L1(1938026), # samples:5
Anticipated loss of major functional domain due to fusion event.TTYH3-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
TTYH3-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
TTYH3-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TTYH3-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
TTYH3-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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:0007094

mitotic spindle assembly checkpoint

18981471

TgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940


check buttonFusion gene breakpoints across TTYH3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MAD1L1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LAMLTCGA-AB-2811-03BTTYH3chr7

2671912

-MAD1L1chr7

1938026

-
ChimerDB4SKCMTCGA-3N-A9WD-06ATTYH3chr7

2671912

-MAD1L1chr7

1938026

-
ChimerDB4SKCMTCGA-3N-A9WD-06ATTYH3chr7

2671912

+MAD1L1chr7

1938026

-
ChimerDB4SKCMTCGA-BF-A3DL-01ATTYH3chr7

2671912

+MAD1L1chr7

1855864

-
ChimerDB4SKCMTCGA-BF-A3DL-01ATTYH3chr7

2671912

+MAD1L1chr7

2020176

-
ChimerDB4SKCMTCGA-BF-A3DLTTYH3chr7

2671912

+MAD1L1chr7

1855864

-
ChimerDB4SKCMTCGA-D9-A6EA-06ATTYH3chr7

2671912

+MAD1L1chr7

1855864

-
ChimerDB4SKCMTCGA-EE-A2A1-06ATTYH3chr7

2671912

+MAD1L1chr7

1938026

-
ChimerDB4SKCMTCGA-FS-A1YW-06ATTYH3chr7

2686656

-MAD1L1chr7

1976533

-
ChimerDB4SKCMTCGA-FS-A1YW-06ATTYH3chr7

2686656

+MAD1L1chr7

1976533

-
ChimerDB4SKCMTCGA-FS-A1YW-06ATTYH3chr7

2686887

+MAD1L1chr7

1976533

-
ChimerDB4SKCMTCGA-Z2-AA3V-06ATTYH3chr7

2671912

-MAD1L1chr7

1855864

-
ChimerDB4SKCMTCGA-Z2-AA3VTTYH3chr7

2671912

+MAD1L1chr7

1855864

-
ChimerDB4SKCMTCGA-Z2-AA3VTTYH3chr7

2671912

+MAD1L1chr7

1938026

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000258796TTYH3chr72671912+ENST00000399654MAD1L1chr71855864-763328719318133
ENST00000407643TTYH3chr72671912+ENST00000399654MAD1L1chr71855864-558123514113133
ENST00000258796TTYH3chr72671912+ENST00000402746MAD1L1chr72020176-13453289391313
ENST00000258796TTYH3chr72671912+ENST00000399654MAD1L1chr72020176-13453289391313
ENST00000258796TTYH3chr72671912+ENST00000406869MAD1L1chr72020176-13453289391313
ENST00000258796TTYH3chr72671912+ENST00000265854MAD1L1chr72020176-13283289391313
ENST00000407643TTYH3chr72671912+ENST00000402746MAD1L1chr72020176-11401230863287
ENST00000407643TTYH3chr72671912+ENST00000399654MAD1L1chr72020176-11401230863287
ENST00000407643TTYH3chr72671912+ENST00000406869MAD1L1chr72020176-11401230863287
ENST00000407643TTYH3chr72671912+ENST00000265854MAD1L1chr72020176-11231230863287
ENST00000258796TTYH3chr72686887+ENST00000402746MAD1L1chr71976533-144761010411347
ENST00000258796TTYH3chr72686887+ENST00000399654MAD1L1chr71976533-144761010411347
ENST00000258796TTYH3chr72686887+ENST00000406869MAD1L1chr71976533-144761010411347
ENST00000258796TTYH3chr72686887+ENST00000265854MAD1L1chr71976533-143061010411347
ENST00000407643TTYH3chr72686887+ENST00000402746MAD1L1chr71976533-12424050965321
ENST00000407643TTYH3chr72686887+ENST00000399654MAD1L1chr71976533-12424050965321
ENST00000407643TTYH3chr72686887+ENST00000406869MAD1L1chr71976533-12424050965321
ENST00000407643TTYH3chr72686887+ENST00000265854MAD1L1chr71976533-12254050965321

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000258796ENST00000399654TTYH3chr72671912+MAD1L1chr71855864-0.143975750.85602427
ENST00000407643ENST00000399654TTYH3chr72671912+MAD1L1chr71855864-0.113021260.8869787
ENST00000258796ENST00000402746TTYH3chr72671912+MAD1L1chr72020176-0.004229270.99577075
ENST00000258796ENST00000399654TTYH3chr72671912+MAD1L1chr72020176-0.004229270.99577075
ENST00000258796ENST00000406869TTYH3chr72671912+MAD1L1chr72020176-0.004229270.99577075
ENST00000258796ENST00000265854TTYH3chr72671912+MAD1L1chr72020176-0.0039037420.9960963
ENST00000407643ENST00000402746TTYH3chr72671912+MAD1L1chr72020176-0.005456110.9945439
ENST00000407643ENST00000399654TTYH3chr72671912+MAD1L1chr72020176-0.005456110.9945439
ENST00000407643ENST00000406869TTYH3chr72671912+MAD1L1chr72020176-0.005456110.9945439
ENST00000407643ENST00000265854TTYH3chr72671912+MAD1L1chr72020176-0.0052144040.9947856
ENST00000258796ENST00000402746TTYH3chr72686887+MAD1L1chr71976533-0.0203785360.9796214
ENST00000258796ENST00000399654TTYH3chr72686887+MAD1L1chr71976533-0.0203785360.9796214
ENST00000258796ENST00000406869TTYH3chr72686887+MAD1L1chr71976533-0.0203785360.9796214
ENST00000258796ENST00000265854TTYH3chr72686887+MAD1L1chr71976533-0.0192053430.9807946
ENST00000407643ENST00000402746TTYH3chr72686887+MAD1L1chr71976533-0.0236659220.9763341
ENST00000407643ENST00000399654TTYH3chr72686887+MAD1L1chr71976533-0.0236659220.9763341
ENST00000407643ENST00000406869TTYH3chr72686887+MAD1L1chr71976533-0.0236659220.9763341
ENST00000407643ENST00000265854TTYH3chr72686887+MAD1L1chr71976533-0.0219241720.9780758

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>95260_95260_1_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000258796_MAD1L1_chr7_1855864_ENST00000399654_length(amino acids)=133AA_BP=1
MVADAHTPGSGTHGVCTWRGCWPPQQEARRRSQRVCQSCCCPVGLERQDVHPACGWRGRGPAGQAKQSGSGYAPEPAGYATVWRLKSSRV

--------------------------------------------------------------

>95260_95260_2_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000258796_MAD1L1_chr7_2020176_ENST00000265854_length(amino acids)=313AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTLQSSPLQLCLQHPLFLLQPTPLAFQLLDLQPERVRL
LPGEQEALFGRAGLRLQHLQLHLQLLVVGVLGPELAASGLPAQVEVGQPVQEAHPPGRRVADPGHGGARPPPDARGLRGAPLLARGAGFR

--------------------------------------------------------------

>95260_95260_3_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000258796_MAD1L1_chr7_2020176_ENST00000399654_length(amino acids)=313AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTLQSSPLQLCLQHPLFLLQPTPLAFQLLDLQPERVRL
LPGEQEALFGRAGLRLQHLQLHLQLLVVGVLGPELAASGLPAQVEVGQPVQEAHPPGRRVADPGHGGARPPPDARGLRGAPLLARGAGFR

--------------------------------------------------------------

>95260_95260_4_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000258796_MAD1L1_chr7_2020176_ENST00000402746_length(amino acids)=313AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTLQSSPLQLCLQHPLFLLQPTPLAFQLLDLQPERVRL
LPGEQEALFGRAGLRLQHLQLHLQLLVVGVLGPELAASGLPAQVEVGQPVQEAHPPGRRVADPGHGGARPPPDARGLRGAPLLARGAGFR

--------------------------------------------------------------

>95260_95260_5_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000258796_MAD1L1_chr7_2020176_ENST00000406869_length(amino acids)=313AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTLQSSPLQLCLQHPLFLLQPTPLAFQLLDLQPERVRL
LPGEQEALFGRAGLRLQHLQLHLQLLVVGVLGPELAASGLPAQVEVGQPVQEAHPPGRRVADPGHGGARPPPDARGLRGAPLLARGAGFR

--------------------------------------------------------------

>95260_95260_6_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000407643_MAD1L1_chr7_1855864_ENST00000399654_length(amino acids)=133AA_BP=1
MVADAHTPGSGTHGVCTWRGCWPPQQEARRRSQRVCQSCCCPVGLERQDVHPACGWRGRGPAGQAKQSGSGYAPEPAGYATVWRLKSSRV

--------------------------------------------------------------

>95260_95260_7_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000407643_MAD1L1_chr7_2020176_ENST00000265854_length(amino acids)=287AA_BP=41
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRM
LEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESA
ELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIP

--------------------------------------------------------------

>95260_95260_8_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000407643_MAD1L1_chr7_2020176_ENST00000399654_length(amino acids)=287AA_BP=41
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRM
LEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESA
ELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIP

--------------------------------------------------------------

>95260_95260_9_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000407643_MAD1L1_chr7_2020176_ENST00000402746_length(amino acids)=287AA_BP=41
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRM
LEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESA
ELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIP

--------------------------------------------------------------

>95260_95260_10_TTYH3-MAD1L1_TTYH3_chr7_2671912_ENST00000407643_MAD1L1_chr7_2020176_ENST00000406869_length(amino acids)=287AA_BP=41
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRM
LEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESA
ELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRRQDSIP

--------------------------------------------------------------

>95260_95260_11_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000258796_MAD1L1_chr7_1976533_ENST00000265854_length(amino acids)=347AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTAVLDPGHRAVGVAERVGGPMDAITGLPVAVESHCDA
GAAHQRGDDDTPGRAAAVGVQVLLALAPPAAQPEGVEEQEEEVQGEAGQGGGPQEQQGLLVVGVLGPELAASGLPAQVEVGQPVQEAHPP

--------------------------------------------------------------

>95260_95260_12_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000258796_MAD1L1_chr7_1976533_ENST00000399654_length(amino acids)=347AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTAVLDPGHRAVGVAERVGGPMDAITGLPVAVESHCDA
GAAHQRGDDDTPGRAAAVGVQVLLALAPPAAQPEGVEEQEEEVQGEAGQGGGPQEQQGLLVVGVLGPELAASGLPAQVEVGQPVQEAHPP

--------------------------------------------------------------

>95260_95260_13_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000258796_MAD1L1_chr7_1976533_ENST00000402746_length(amino acids)=347AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTAVLDPGHRAVGVAERVGGPMDAITGLPVAVESHCDA
GAAHQRGDDDTPGRAAAVGVQVLLALAPPAAQPEGVEEQEEEVQGEAGQGGGPQEQQGLLVVGVLGPELAASGLPAQVEVGQPVQEAHPP

--------------------------------------------------------------

>95260_95260_14_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000258796_MAD1L1_chr7_1976533_ENST00000406869_length(amino acids)=347AA_BP=1
MHLGTRGAGGLEDEAVAWVLGVQRGQPVLVLRGDVDLVAGERVAGLAELLDLGLENLLEPLVLQLGTLHLLLQLCHLLGRWQTRGGSLKV
GWDGASSLHGAQEPAQSLALRLQLAVVLAQALPGHTGGVQAHVQHFGPALVIVTAVLDPGHRAVGVAERVGGPMDAITGLPVAVESHCDA
GAAHQRGDDDTPGRAAAVGVQVLLALAPPAAQPEGVEEQEEEVQGEAGQGGGPQEQQGLLVVGVLGPELAASGLPAQVEVGQPVQEAHPP

--------------------------------------------------------------

>95260_95260_15_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000407643_MAD1L1_chr7_1976533_ENST00000265854_length(amino acids)=321AA_BP=135
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQALLLLGAAALACLALDLLFLLFYSFWLCCRRRKSEEHLDADCCCTAWCV
IIATLVCSAGIAVGFYGNGETSDGIHRATYSLRHANRTVAGVQDRGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRA
MERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKA

--------------------------------------------------------------

>95260_95260_16_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000407643_MAD1L1_chr7_1976533_ENST00000399654_length(amino acids)=321AA_BP=135
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQALLLLGAAALACLALDLLFLLFYSFWLCCRRRKSEEHLDADCCCTAWCV
IIATLVCSAGIAVGFYGNGETSDGIHRATYSLRHANRTVAGVQDRGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRA
MERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKA

--------------------------------------------------------------

>95260_95260_17_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000407643_MAD1L1_chr7_1976533_ENST00000402746_length(amino acids)=321AA_BP=135
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQALLLLGAAALACLALDLLFLLFYSFWLCCRRRKSEEHLDADCCCTAWCV
IIATLVCSAGIAVGFYGNGETSDGIHRATYSLRHANRTVAGVQDRGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRA
MERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKA

--------------------------------------------------------------

>95260_95260_18_TTYH3-MAD1L1_TTYH3_chr7_2686887_ENST00000407643_MAD1L1_chr7_1976533_ENST00000406869_length(amino acids)=321AA_BP=135
MAGVSYAAPWWVSLLHRLPHFDLSWEATSSQFRPEDTDYQQALLLLGAAALACLALDLLFLLFYSFWLCCRRRKSEEHLDADCCCTAWCV
IIATLVCSAGIAVGFYGNGETSDGIHRATYSLRHANRTVAGVQDRGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRA
MERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKA

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr7:2671912/chr7:1855864)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9Y6D9

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720). {ECO:0000269|PubMed:10049595, ECO:0000269|PubMed:20133940, ECO:0000269|PubMed:29162720}.

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

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* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+1141_4241.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+1131_4241.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+1141_4241.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+1131_4241.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+3141_42135.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+31464_86135.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+3131_42135.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+31364_86135.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+31443_63135.0524.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+31487_107135.0524.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+31343_63135.0492.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+31387_107135.0492.0TransmembraneHelical%3B Name%3D2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114108_21141.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114233_23641.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114258_38641.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114408_52341.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+11464_8641.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110108_2110353.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+1101_420353.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110233_2360353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110258_3860353.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110408_5230353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+11064_860353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113108_21141.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113233_23641.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113258_38641.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113408_52341.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+11364_8641.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114108_21141.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114233_23641.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114258_38641.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114408_52341.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+11464_8641.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110108_2110353.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+1101_420353.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110233_2360353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110258_3860353.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110408_5230353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+11064_860353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113108_21141.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113233_23641.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113258_38641.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113408_52341.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+11364_8641.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314108_211135.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314233_236135.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314258_386135.0524.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314408_523135.0524.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110108_2110353.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+1101_420353.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110233_2360353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110258_3860353.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110408_5230353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+11064_860353.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313108_211135.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313233_236135.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313258_386135.0492.0Topological domainExtracellular
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313408_523135.0492.0Topological domainCytoplasmic
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114212_23241.0524.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114237_25741.0524.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+114387_40741.0524.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+11443_6341.0524.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2671912chr7:1855864ENST00000258796+11487_10741.0524.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110212_2320353.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110237_2570353.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+110387_4070353.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+11043_630353.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2671912chr7:1855864ENST00000403167+11087_1070353.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113212_23241.0492.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113237_25741.0492.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+113387_40741.0492.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+11343_6341.0492.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2671912chr7:1855864ENST00000407643+11387_10741.0492.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114212_23241.0524.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114237_25741.0524.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+114387_40741.0524.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+11443_6341.0524.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2671912chr7:2020176ENST00000258796+11487_10741.0524.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110212_2320353.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110237_2570353.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+110387_4070353.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+11043_630353.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2671912chr7:2020176ENST00000403167+11087_1070353.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113212_23241.0492.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113237_25741.0492.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+113387_40741.0492.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+11343_6341.0492.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2671912chr7:2020176ENST00000407643+11387_10741.0492.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314212_232135.0524.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314237_257135.0524.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2686887chr7:1976533ENST00000258796+314387_407135.0524.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110212_2320353.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110237_2570353.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+110387_4070353.0TransmembraneHelical%3B Name%3D5
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+11043_630353.0TransmembraneHelical%3B Name%3D1
HgeneTTYH3chr7:2686887chr7:1976533ENST00000403167+11087_1070353.0TransmembraneHelical%3B Name%3D2
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313212_232135.0492.0TransmembraneHelical%3B Name%3D3
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313237_257135.0492.0TransmembraneHelical%3B Name%3D4
HgeneTTYH3chr7:2686887chr7:1976533ENST00000407643+313387_407135.0492.0TransmembraneHelical%3B Name%3D5
TgeneMAD1L1chr7:2671912chr7:1855864ENST00000265854161846_632666.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2671912chr7:1855864ENST00000399654171946_632666.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2671912chr7:1855864ENST00000406869171946_632666.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2671912chr7:2020176ENST00000265854121846_632472.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2671912chr7:2020176ENST00000399654131946_632472.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2671912chr7:2020176ENST00000406869131946_632472.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2686887chr7:1976533ENST00000265854141846_632532.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2686887chr7:1976533ENST00000399654151946_632532.0719.0Coiled coilOntology_term=ECO:0000255
TgeneMAD1L1chr7:2686887chr7:1976533ENST00000406869151946_632532.0719.0Coiled coilOntology_term=ECO:0000255


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
TTYH3_pLDDT.png
all structure
all structure
MAD1L1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
TTYH3
MAD1L1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to TTYH3-MAD1L1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to TTYH3-MAD1L1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource