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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:CDKAL1-ASH1L

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: CDKAL1-ASH1L
	FusionPDB ID: 15322
	FusionGDB2.0 ID: 15322
		Hgene	Tgene
	Gene symbol	CDKAL1	ASH1L
	Gene ID	54901	55870
	Gene name	CDK5 regulatory subunit associated protein 1 like 1	ASH1 like histone lysine methyltransferase
	Synonyms	-	ASH1\|ASH1L1\|KMT2H\|MRD52
	Cytomap	6p22.3	1q22
	Type of gene	protein-coding	protein-coding
	Description	threonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferase	histone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1L
	Modification date	20200322	20200313
	UniProtAcc	Q5VV42	Q9NR48
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000274695, ENST00000378610, ENST00000378624, ENST00000476517,	ENST00000548830, ENST00000368346, ENST00000392403,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	37 X 20 X 14=10360	17 X 13 X 7=1547
	# samples	39	18
	** MAII score	log2(39/10360*10)=-4.73140606882431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(18/1547*10)=-3.10340438511936 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: CDKAL1 [Title/Abstract] AND ASH1L [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	CDKAL1(20846409)-ASH1L(155349907), # samples:4
Anticipated loss of major functional domain due to fusion event.	CDKAL1-ASH1L 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. CDKAL1-ASH1L 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. CDKAL1-ASH1L 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. CDKAL1-ASH1L 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.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	ASH1L	GO:0097676	histone H3-K36 dimethylation	26002201

Fusion gene breakpoints across CDKAL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across ASH1L (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	LUSC	TCGA-33-4587-01A	CDKAL1	chr6	20846409	-	ASH1L	chr1	155349907	-
ChimerDB4	LUSC	TCGA-33-4587-01A	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-
ChimerDB4	LUSC	TCGA-33-4587	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000274695	CDKAL1	chr6	20846409	+	ENST00000368346	ASH1L	chr1	155349907	-	6093	909	167	1000	277
ENST00000274695	CDKAL1	chr6	20846409	+	ENST00000392403	ASH1L	chr1	155349907	-	5306	909	167	3700	1177
ENST00000378624	CDKAL1	chr6	20846409	+	ENST00000368346	ASH1L	chr1	155349907	-	5980	796	264	887	207
ENST00000378624	CDKAL1	chr6	20846409	+	ENST00000392403	ASH1L	chr1	155349907	-	5193	796	264	3587	1107
ENST00000378610	CDKAL1	chr6	20846409	+	ENST00000368346	ASH1L	chr1	155349907	-	5936	752	10	843	277
ENST00000378610	CDKAL1	chr6	20846409	+	ENST00000392403	ASH1L	chr1	155349907	-	5149	752	10	3543	1177

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000274695	ENST00000368346	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-	0.000617139	0.99938285
ENST00000274695	ENST00000392403	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-	7.74E-05	0.99992263
ENST00000378624	ENST00000368346	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-	0.001173728	0.9988262
ENST00000378624	ENST00000392403	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-	8.65E-05	0.99991345
ENST00000378610	ENST00000368346	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-	0.000628714	0.99937135
ENST00000378610	ENST00000392403	CDKAL1	chr6	20846409	+	ASH1L	chr1	155349907	-	6.81E-05	0.99993193

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Fusion Amino Acid Sequences

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

>15322_15322_1_CDKAL1-ASH1L_CDKAL1_chr6_20846409_ENST00000274695_ASH1L_chr1_155349907_ENST00000368346_length(amino acids)=277AA_BP=
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG
QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQAIDVTYLLEEGSGRKLRRRTLFI

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

>15322_15322_2_CDKAL1-ASH1L_CDKAL1_chr6_20846409_ENST00000274695_ASH1L_chr1_155349907_ENST00000392403_length(amino acids)=1177AA_BP=247
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG
QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQGKYLRQKRIDFQLPYDILWQWKH
NQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKKPDDDTRKGCVDDCLNRMIFAECSPNTCPCGEQCCNQRIQRHEWVQCLERFRA
EEKGWGIRTKEPLKAGQFIIEYLGEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARFINHSCDPNCEMQKWSVNGVYRI
GLYALKDMPAGTELTYDYNFHSFNVEKQQLCKCGFEKCRGIIGGKSQRVNGLTSSKNSQPMATHKKSGRSKEKRKSKHKLKKRRGHLSEE
PSENINTPTRLTPQLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGICRDDGNIKSDVFMTQFSALQTA
RSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYKDSSRQALAAPLLNLPPKKKNADYYEKISDPLDLITIEKQILTGYYKTVEAFD
ADMLKVFRNAEKYYGRKSPVGRDVCRLRKAYYNARHEASAQIDEIVGETASEADSSETSVSEKENGHEKDDDVIRCICGLYKDEGLMIQC
DKCMVWQHCDCMGVNSDVEHYLCEQCDPRPVDREVPMIPRPHYAQPGCVYFICLLRDDLLLRQGDCVYLMRDSRRTPDGHPVRQSYRLLS
HINRDKLDIFRIEKLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCCVLDLYTYCKGRPKGVKEQDVYI
CDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTPKKDFSPHYVPDNYKRNGGRSSWKSERSKPPLKDLGQEDDALPLIEEVLASQE
QAANEIPSLEEPEREGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLNQILLNLLEKIPGKNAIDVTYLLEEGSGRKLRRRTLFI

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

>15322_15322_3_CDKAL1-ASH1L_CDKAL1_chr6_20846409_ENST00000378610_ASH1L_chr1_155349907_ENST00000368346_length(amino acids)=277AA_BP=
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG
QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQAIDVTYLLEEGSGRKLRRRTLFI

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

>15322_15322_4_CDKAL1-ASH1L_CDKAL1_chr6_20846409_ENST00000378610_ASH1L_chr1_155349907_ENST00000392403_length(amino acids)=1177AA_BP=247
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG
QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQGKYLRQKRIDFQLPYDILWQWKH
NQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKKPDDDTRKGCVDDCLNRMIFAECSPNTCPCGEQCCNQRIQRHEWVQCLERFRA
EEKGWGIRTKEPLKAGQFIIEYLGEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARFINHSCDPNCEMQKWSVNGVYRI
GLYALKDMPAGTELTYDYNFHSFNVEKQQLCKCGFEKCRGIIGGKSQRVNGLTSSKNSQPMATHKKSGRSKEKRKSKHKLKKRRGHLSEE
PSENINTPTRLTPQLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGICRDDGNIKSDVFMTQFSALQTA
RSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYKDSSRQALAAPLLNLPPKKKNADYYEKISDPLDLITIEKQILTGYYKTVEAFD
ADMLKVFRNAEKYYGRKSPVGRDVCRLRKAYYNARHEASAQIDEIVGETASEADSSETSVSEKENGHEKDDDVIRCICGLYKDEGLMIQC
DKCMVWQHCDCMGVNSDVEHYLCEQCDPRPVDREVPMIPRPHYAQPGCVYFICLLRDDLLLRQGDCVYLMRDSRRTPDGHPVRQSYRLLS
HINRDKLDIFRIEKLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCCVLDLYTYCKGRPKGVKEQDVYI
CDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTPKKDFSPHYVPDNYKRNGGRSSWKSERSKPPLKDLGQEDDALPLIEEVLASQE
QAANEIPSLEEPEREGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLNQILLNLLEKIPGKNAIDVTYLLEEGSGRKLRRRTLFI

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

>15322_15322_5_CDKAL1-ASH1L_CDKAL1_chr6_20846409_ENST00000378624_ASH1L_chr1_155349907_ENST00000368346_length(amino acids)=207AA_BP=
MLSRRYEGEIPKNICKRKKTVHQVTENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQI
DRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQAID

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

>15322_15322_6_CDKAL1-ASH1L_CDKAL1_chr6_20846409_ENST00000378624_ASH1L_chr1_155349907_ENST00000392403_length(amino acids)=1107AA_BP=177
MLSRRYEGEIPKNICKRKKTVHQVTENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQI
DRVVEVVEETIKGHSVRLLGQKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQGKY
LRQKRIDFQLPYDILWQWKHNQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKKPDDDTRKGCVDDCLNRMIFAECSPNTCPCGEQ
CCNQRIQRHEWVQCLERFRAEEKGWGIRTKEPLKAGQFIIEYLGEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARFIN
HSCDPNCEMQKWSVNGVYRIGLYALKDMPAGTELTYDYNFHSFNVEKQQLCKCGFEKCRGIIGGKSQRVNGLTSSKNSQPMATHKKSGRS
KEKRKSKHKLKKRRGHLSEEPSENINTPTRLTPQLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGICR
DDGNIKSDVFMTQFSALQTARSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYKDSSRQALAAPLLNLPPKKKNADYYEKISDPLD
LITIEKQILTGYYKTVEAFDADMLKVFRNAEKYYGRKSPVGRDVCRLRKAYYNARHEASAQIDEIVGETASEADSSETSVSEKENGHEKD
DDVIRCICGLYKDEGLMIQCDKCMVWQHCDCMGVNSDVEHYLCEQCDPRPVDREVPMIPRPHYAQPGCVYFICLLRDDLLLRQGDCVYLM
RDSRRTPDGHPVRQSYRLLSHINRDKLDIFRIEKLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCCVL
DLYTYCKGRPKGVKEQDVYICDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTPKKDFSPHYVPDNYKRNGGRSSWKSERSKPPLK
DLGQEDDALPLIEEVLASQEQAANEIPSLEEPEREGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLNQILLNLLEKIPGKNAID

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:20846409/chr1:155349907)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
CDKAL1 Q5VV42	ASH1L Q9NR48
FUNCTION: Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. {ECO:0000250\|UniProtKB:Q91WE6}.	FUNCTION: Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity). {ECO:0000250\|UniProtKB:Q99MY8, ECO:0000269\|PubMed:21239497}.

Retention 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.

- Retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000274695

64_172

247.33333333333334

580.0

Domain

MTTase N-terminal

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378610

64_172

247.33333333333334

580.0

Domain

MTTase N-terminal

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378624

64_172

177.33333333333334

489.0

Domain

MTTase N-terminal

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

1380_1424

2970.0

Compositional bias

Note=Pro-rich

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

1580_1791

2970.0

Compositional bias

Note=Ser-rich

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

1347_1359

2970.0

DNA binding

Note=A.T hook 2

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

1847_1859

2970.0

DNA binding

Note=A.T hook 3

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

887_899

2970.0

DNA binding

Note=A.T hook 1

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2091_2142

2970.0

Domain

AWS

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2145_2261

2970.0

Domain

SET

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2269_2285

2970.0

Domain

Post-SET

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2463_2533

2970.0

Domain

Bromo

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2661_2798

2970.0

Domain

BAH

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2091_2142

2034.3333333333333

2965.0

Domain

AWS

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2145_2261

2034.3333333333333

2965.0

Domain

SET

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2269_2285

2034.3333333333333

2965.0

Domain

Post-SET

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2463_2533

2034.3333333333333

2965.0

Domain

Bromo

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2661_2798

2034.3333333333333

2965.0

Domain

BAH

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2069_2288

2970.0

Region

Note=Catalytic domain

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2069_2288

2034.3333333333333

2965.0

Region

Note=Catalytic domain

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000368346

2585_2631

2970.0

Zinc finger

Note=PHD-type

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

2585_2631

2034.3333333333333

2965.0

Zinc finger

Note=PHD-type

- Not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000274695

200_431

247.33333333333334

580.0

Domain

Radical SAM core

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000274695

431_493

247.33333333333334

580.0

Domain

TRAM

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378610

200_431

247.33333333333334

580.0

Domain

Radical SAM core

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378610

431_493

247.33333333333334

580.0

Domain

TRAM

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378624

200_431

177.33333333333334

489.0

Domain

Radical SAM core

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378624

431_493

177.33333333333334

489.0

Domain

TRAM

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000274695

556_578

247.33333333333334

580.0

Transmembrane

Helical

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378610

556_578

247.33333333333334

580.0

Transmembrane

Helical

Hgene

CDKAL1

chr6:20846409

chr1:155349907

ENST00000378624

556_578

177.33333333333334

489.0

Transmembrane

Helical

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

1380_1424

2034.3333333333333

2965.0

Compositional bias

Note=Pro-rich

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

1580_1791

2034.3333333333333

2965.0

Compositional bias

Note=Ser-rich

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

1347_1359

2034.3333333333333

2965.0

DNA binding

Note=A.T hook 2

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

1847_1859

2034.3333333333333

2965.0

DNA binding

Note=A.T hook 3

Tgene

ASH1L

chr6:20846409

chr1:155349907

ENST00000392403

887_899

2034.3333333333333

2965.0

DNA binding

Note=A.T hook 1

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Fusion Protein Structures

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)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1915_CDKAL1_20846409_ASH1L_155349907_ranked_0.pdb	CDKAL1	20846409	20846409	ENST00000392403	ASH1L	chr1	155349907	-	MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY GYKITENASDADLWLLNSCTVKNPAEDHFRNSIKKAQEENKKIVLAGCVPQAQPRQDYLKGLSIIGVQQIDRVVEVVEETIKGHSVRLLG QKKDNGRRLGGARLDLPKIRKNPLIEIISINTGCLNACTYCKTKHARGNLASYPIDELVDRAKQSFQGKYLRQKRIDFQLPYDILWQWKH NQLYKKPDVPLYKKIRSNVYVDVKPLSGYEATTCNCKKPDDDTRKGCVDDCLNRMIFAECSPNTCPCGEQCCNQRIQRHEWVQCLERFRA EEKGWGIRTKEPLKAGQFIIEYLGEVVSEQEFRNRMIEQYHNHSDHYCLNLDSGMVIDSYRMGNEARFINHSCDPNCEMQKWSVNGVYRI GLYALKDMPAGTELTYDYNFHSFNVEKQQLCKCGFEKCRGIIGGKSQRVNGLTSSKNSQPMATHKKSGRSKEKRKSKHKLKKRRGHLSEE PSENINTPTRLTPQLQMKPMSNRERNFVLKHHVFLVRNWEKIRQKQEEVKHTSDNIHSASLYTRWNGICRDDGNIKSDVFMTQFSALQTA RSVRTRRLAAAEENIEVARAARLAQIFKEICDGIISYKDSSRQALAAPLLNLPPKKKNADYYEKISDPLDLITIEKQILTGYYKTVEAFD ADMLKVFRNAEKYYGRKSPVGRDVCRLRKAYYNARHEASAQIDEIVGETASEADSSETSVSEKENGHEKDDDVIRCICGLYKDEGLMIQC DKCMVWQHCDCMGVNSDVEHYLCEQCDPRPVDREVPMIPRPHYAQPGCVYFICLLRDDLLLRQGDCVYLMRDSRRTPDGHPVRQSYRLLS HINRDKLDIFRIEKLWKNEKEERFAFGHHYFRPHETHHSPSRRFYHNELFRVPLYEIIPLEAVVGTCCVLDLYTYCKGRPKGVKEQDVYI CDYRLDKSAHLFYKIHRNRYPVCTKPYAFDHFPKKLTPKKDFSPHYVPDNYKRNGGRSSWKSERSKPPLKDLGQEDDALPLIEEVLASQE QAANEIPSLEEPEREGATANVSEGEKKTEESSQEPQSTCTPEERRHNQRERLNQILLNLLEKIPGKNAIDVTYLLEEGSGRKLRRRTLFI	1177

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pLDDT score distribution

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.

CDKAL1_pLDDT.png

ASH1L_pLDDT.png

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

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
CDKAL1
ASH1L

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to CDKAL1-ASH1L

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

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to CDKAL1-ASH1L

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

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source