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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
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Fusion gene:CDKL1-DNM2 (FusionGDB2 ID:HG8814TG1785)

Fusion Gene Summary for CDKL1-DNM2

Fusion gene summary

Fusion gene information	Fusion gene name: CDKL1-DNM2
	Fusion gene ID: hg8814tg1785
		Hgene	Tgene
	Gene symbol	CDKL1	DNM2
	Gene ID	8814	1785
	Gene name	cyclin dependent kinase like 1	dynamin 2
	Synonyms	KKIALRE\|P42	CMT2M\|CMTDI1\|CMTDIB\|DI-CMTB\|DYN2\|DYNII\|LCCS5
	Cytomap	('CDKL1')('DNM2') 14q21.3	19p13.2
	Type of gene	protein-coding	protein-coding
	Description	cyclin-dependent kinase-like 1cyclin-dependent kinase-like 1 (CDC2-related kinase)protein kinase p42 KKIALREserine/threonine protein kinase KKIALRE	dynamin-2dynamin II
	Modification date	20200313	20200329
	UniProtAcc	Q00532	.
	Ensembl transtripts involved in fusion gene	ENST00000216378, ENST00000395834, ENST00000356146,
Fusion gene scores	* DoF score	8 X 8 X 4=256	19 X 24 X 14=6384
	# samples	8	34
	** MAII score	log2(8/256*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(34/6384*10)=-4.23085400008464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CDKL1 [Title/Abstract] AND DNM2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CDKL1(50862418)-DNM2(10939711), # samples:1
Anticipated loss of major functional domain due to fusion event.	CDKL1-DNM2 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. CDKL1-DNM2 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. CDKL1-DNM2 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. CDKL1-DNM2 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	DNM2	GO:1903526	negative regulation of membrane tubulation	18388313

Fusion gene breakpoints across CDKL1 (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 DNM2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information
* 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	ESCA	TCGA-V5-AASX	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+

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Fusion Gene ORF analysis for CDKL1-DNM2

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000216378	ENST00000591819	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5CDS-intron	ENST00000395834	ENST00000591819	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000356146	ENST00000314646	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000356146	ENST00000355667	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000356146	ENST00000359692	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000356146	ENST00000389253	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000356146	ENST00000408974	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000356146	ENST00000585892	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
5UTR-intron	ENST00000356146	ENST00000591819	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000216378	ENST00000314646	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000216378	ENST00000355667	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000216378	ENST00000359692	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000216378	ENST00000389253	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000216378	ENST00000408974	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000216378	ENST00000585892	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000395834	ENST00000314646	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000395834	ENST00000355667	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000395834	ENST00000359692	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000395834	ENST00000389253	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000395834	ENST00000408974	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+
In-frame	ENST00000395834	ENST00000585892	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)
ENST00000395834	CDKL1	chr14	50862418	-	ENST00000585892	DNM2	chr19	10939711	+	751	199	28	750	241
ENST00000395834	CDKL1	chr14	50862418	-	ENST00000314646	DNM2	chr19	10939711	+	1610	199	28	753	241
ENST00000395834	CDKL1	chr14	50862418	-	ENST00000359692	DNM2	chr19	10939711	+	1591	199	28	753	241
ENST00000395834	CDKL1	chr14	50862418	-	ENST00000389253	DNM2	chr19	10939711	+	1610	199	28	753	241
ENST00000395834	CDKL1	chr14	50862418	-	ENST00000355667	DNM2	chr19	10939711	+	1602	199	28	753	241
ENST00000395834	CDKL1	chr14	50862418	-	ENST00000408974	DNM2	chr19	10939711	+	1131	199	28	753	241
ENST00000216378	CDKL1	chr14	50862418	-	ENST00000585892	DNM2	chr19	10939711	+	1368	816	540	1367	275
ENST00000216378	CDKL1	chr14	50862418	-	ENST00000314646	DNM2	chr19	10939711	+	2227	816	540	1370	276
ENST00000216378	CDKL1	chr14	50862418	-	ENST00000359692	DNM2	chr19	10939711	+	2208	816	540	1370	276
ENST00000216378	CDKL1	chr14	50862418	-	ENST00000389253	DNM2	chr19	10939711	+	2227	816	540	1370	276
ENST00000216378	CDKL1	chr14	50862418	-	ENST00000355667	DNM2	chr19	10939711	+	2219	816	540	1370	276
ENST00000216378	CDKL1	chr14	50862418	-	ENST00000408974	DNM2	chr19	10939711	+	1748	816	540	1370	276

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
ENST00000395834	ENST00000585892	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.01785874	0.98214126
ENST00000395834	ENST00000314646	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.037047874	0.9629521
ENST00000395834	ENST00000359692	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.035395052	0.964605
ENST00000395834	ENST00000389253	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.037047874	0.9629521
ENST00000395834	ENST00000355667	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.036727134	0.96327287
ENST00000395834	ENST00000408974	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.034777347	0.96522266
ENST00000216378	ENST00000585892	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.033893395	0.9661066
ENST00000216378	ENST00000314646	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.049475588	0.9505244
ENST00000216378	ENST00000359692	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.048545774	0.95145416
ENST00000216378	ENST00000389253	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.049475588	0.9505244
ENST00000216378	ENST00000355667	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.049352195	0.9506478
ENST00000216378	ENST00000408974	CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	0.05052462	0.94947535

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Fusion Genomic Features for CDKL1-DNM2

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	5.35E-10	1
CDKL1	chr14	50862418	-	DNM2	chr19	10939711	+	5.35E-10	1

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CDKL1-DNM2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:50862418/chr19:10939711)
- 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
CDKL1 Q00532	.
	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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.

- In-frame and 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

CDKL1

chr14:50862418

chr19:10939711

ENST00000395834

46_52

359.0

Motif

Note=[NKR]KIAxRE

Hgene

CDKL1

chr14:50862418

chr19:10939711

ENST00000395834

11_19

359.0

Nucleotide binding

ATP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

747_866

686

871.0

Compositional bias

Note=Pro-rich

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

747_866

682

867.0

Compositional bias

Note=Pro-rich

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

747_866

686

871.0

Compositional bias

Note=Pro-rich

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

747_866

682

867.0

Compositional bias

Note=Pro-rich

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

747_866

686

870.0

Compositional bias

Note=Pro-rich

- In-frame and 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

CDKL1

chr14:50862418

chr19:10939711

ENST00000395834

5_288

359.0

Domain

Protein kinase

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

28_294

686

871.0

Domain

Dynamin-type G

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

519_625

686

871.0

Domain

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

653_744

686

871.0

Domain

GED

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

28_294

682

867.0

Domain

Dynamin-type G

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

519_625

682

867.0

Domain

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

653_744

682

867.0

Domain

GED

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

28_294

686

871.0

Domain

Dynamin-type G

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

519_625

686

871.0

Domain

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

653_744

686

871.0

Domain

GED

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

28_294

682

867.0

Domain

Dynamin-type G

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

519_625

682

867.0

Domain

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

653_744

682

867.0

Domain

GED

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

28_294

686

870.0

Domain

Dynamin-type G

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

519_625

686

870.0

Domain

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

653_744

686

870.0

Domain

GED

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

205_211

686

871.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

236_239

686

871.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

38_46

686

871.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

205_211

682

867.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

236_239

682

867.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

38_46

682

867.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

205_211

686

871.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

236_239

686

871.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

38_46

686

871.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

205_211

682

867.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

236_239

682

867.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

38_46

682

867.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

205_211

686

870.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

236_239

686

870.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

38_46

686

870.0

Nucleotide binding

GTP

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

136_139

686

871.0

Region

G3 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

205_208

686

871.0

Region

G4 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

235_238

686

871.0

Region

G5 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

38_45

686

871.0

Region

G1 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000355667

64_66

686

871.0

Region

G2 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

136_139

682

867.0

Region

G3 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

205_208

682

867.0

Region

G4 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

235_238

682

867.0

Region

G5 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

38_45

682

867.0

Region

G1 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000359692

64_66

682

867.0

Region

G2 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

136_139

686

871.0

Region

G3 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

205_208

686

871.0

Region

G4 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

235_238

686

871.0

Region

G5 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

38_45

686

871.0

Region

G1 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000389253

64_66

686

871.0

Region

G2 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

136_139

682

867.0

Region

G3 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

205_208

682

867.0

Region

G4 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

235_238

682

867.0

Region

G5 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

38_45

682

867.0

Region

G1 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000408974

64_66

682

867.0

Region

G2 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

136_139

686

870.0

Region

G3 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

205_208

686

870.0

Region

G4 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

235_238

686

870.0

Region

G5 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

38_45

686

870.0

Region

G1 motif

Tgene

DNM2

chr14:50862418

chr19:10939711

ENST00000585892

64_66

686

870.0

Region

G2 motif

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Fusion Gene Sequence for CDKL1-DNM2

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>15363_15363_1_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000314646_length(transcript)=2227nt_BP=816nt
ACAGCAGAAGACTGCCGTGGAACCTTCCCTACTGTAGAGGAAAGTGCTGACTTTAAGCAATTTCTGCAGTCACGCCTTCCTCTTCTTTCC
TTTCTCCCTCTCATTCATTCACTGACGCCGCAGCACTGATCAGCACAGACACAGAAGATGCCTCCAAGGGACCAAAGGGAATAACCGCGG
TTCTGAGGACCGTGACAAACACTCATCGTTGGGTGGGGCTCTAGTGCAGTCCGTTGGTGCCAATATTTTATAAGCGACGTTTTCAAACTA
TGTGAAGATCCTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCGCCCGGGC
TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCACGCGATTCTCCTGCCTCAGTCTCCTGAGTTGCTGGGA
CTACGGGCGCCCATCACCACACCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGAGTTTCAGTATGTTGGCCAGACTGGTCTCGAACTC
CTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATTCTCGGCTGAAGATCCATTTTAAG
AAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAAATGTAGAAACAGG
GACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCGGGAAATCCGAATG
CTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGAC
CAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTG
TCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCGACCGGTGTCCAGC
ATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTC
TCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGG
CCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCC
GAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTTCAGTGGTCTGGGG
CCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCAGGGCCGGCCCCTG
TGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGGGATGGAGTCTCAG
GGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTCTTCTTGGGCTGGG
AAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATATCAACT
TCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGTACATAGTCCTTCC
CGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCGGC
CTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGCGGGGGGTCTTGGG
GGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTCCTCGCTCAGTTTG
ACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAAAGGGAAGACGCTGCTGGTG

>15363_15363_1_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000314646_length(amino acids)=276AA_BP=1
MTSGDLPASASQSAGITGVSHHSRLKIHFKKIYSSMMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRM
LKTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSS
IHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPA
EPSLLD

--------------------------------------------------------------
>15363_15363_2_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000355667_length(transcript)=2219nt_BP=816nt
ACAGCAGAAGACTGCCGTGGAACCTTCCCTACTGTAGAGGAAAGTGCTGACTTTAAGCAATTTCTGCAGTCACGCCTTCCTCTTCTTTCC
TTTCTCCCTCTCATTCATTCACTGACGCCGCAGCACTGATCAGCACAGACACAGAAGATGCCTCCAAGGGACCAAAGGGAATAACCGCGG
TTCTGAGGACCGTGACAAACACTCATCGTTGGGTGGGGCTCTAGTGCAGTCCGTTGGTGCCAATATTTTATAAGCGACGTTTTCAAACTA
TGTGAAGATCCTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCGCCCGGGC
TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCACGCGATTCTCCTGCCTCAGTCTCCTGAGTTGCTGGGA
CTACGGGCGCCCATCACCACACCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGAGTTTCAGTATGTTGGCCAGACTGGTCTCGAACTC
CTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATTCTCGGCTGAAGATCCATTTTAAG
AAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAAATGTAGAAACAGG
GACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCGGGAAATCCGAATG
CTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGAC
CAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTG
TCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCGACCGGTGTCCAGC
ATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTC
TCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGG
CCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCC
GAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTTCAGTGGTCTGGGG
CCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCAGGGCCGGCCCCTG
TGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGGGATGGAGTCTCAG
GGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTCTTCTTGGGCTGGG
AAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATATCAACT
TCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGTACATAGTCCTTCC
CGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCGGC
CTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGCGGGGGGTCTTGGG
GGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTCCTCGCTCAGTTTG
ACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAAAGGGAAGACGC

>15363_15363_2_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000355667_length(amino acids)=276AA_BP=1
MTSGDLPASASQSAGITGVSHHSRLKIHFKKIYSSMMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRM
LKTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSS
IHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPA
EPSLLD

--------------------------------------------------------------
>15363_15363_3_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000359692_length(transcript)=2208nt_BP=816nt
ACAGCAGAAGACTGCCGTGGAACCTTCCCTACTGTAGAGGAAAGTGCTGACTTTAAGCAATTTCTGCAGTCACGCCTTCCTCTTCTTTCC
TTTCTCCCTCTCATTCATTCACTGACGCCGCAGCACTGATCAGCACAGACACAGAAGATGCCTCCAAGGGACCAAAGGGAATAACCGCGG
TTCTGAGGACCGTGACAAACACTCATCGTTGGGTGGGGCTCTAGTGCAGTCCGTTGGTGCCAATATTTTATAAGCGACGTTTTCAAACTA
TGTGAAGATCCTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCGCCCGGGC
TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCACGCGATTCTCCTGCCTCAGTCTCCTGAGTTGCTGGGA
CTACGGGCGCCCATCACCACACCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGAGTTTCAGTATGTTGGCCAGACTGGTCTCGAACTC
CTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATTCTCGGCTGAAGATCCATTTTAAG
AAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAAATGTAGAAACAGG
GACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCGGGAAATCCGAATG
CTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGAC
CAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTG
TCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCGACCGGTGTCCAGC
ATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTC
TCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGG
CCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCC
GAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTTCAGTGGTCTGGGG
CCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCAGGGCCGGCCCCTG
TGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGGGATGGAGTCTCAG
GGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTCTTCTTGGGCTGGG
AAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATATCAACT
TCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGTACATAGTCCTTCC
CGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCGGC
CTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGCGGGGGGTCTTGGG
GGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTCCTCGCTCAGTTTG
ACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAA

>15363_15363_3_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000359692_length(amino acids)=276AA_BP=1
MTSGDLPASASQSAGITGVSHHSRLKIHFKKIYSSMMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRM
LKTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSS
IHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPA
EPSLLD

--------------------------------------------------------------
>15363_15363_4_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000389253_length(transcript)=2227nt_BP=816nt
ACAGCAGAAGACTGCCGTGGAACCTTCCCTACTGTAGAGGAAAGTGCTGACTTTAAGCAATTTCTGCAGTCACGCCTTCCTCTTCTTTCC
TTTCTCCCTCTCATTCATTCACTGACGCCGCAGCACTGATCAGCACAGACACAGAAGATGCCTCCAAGGGACCAAAGGGAATAACCGCGG
TTCTGAGGACCGTGACAAACACTCATCGTTGGGTGGGGCTCTAGTGCAGTCCGTTGGTGCCAATATTTTATAAGCGACGTTTTCAAACTA
TGTGAAGATCCTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCGCCCGGGC
TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCACGCGATTCTCCTGCCTCAGTCTCCTGAGTTGCTGGGA
CTACGGGCGCCCATCACCACACCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGAGTTTCAGTATGTTGGCCAGACTGGTCTCGAACTC
CTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATTCTCGGCTGAAGATCCATTTTAAG
AAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAAATGTAGAAACAGG
GACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCGGGAAATCCGAATG
CTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGAC
CAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTG
TCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCGACCGGTGTCCAGC
ATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTC
TCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGG
CCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCC
GAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTTCAGTGGTCTGGGG
CCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCAGGGCCGGCCCCTG
TGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGGGATGGAGTCTCAG
GGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTCTTCTTGGGCTGGG
AAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATATCAACT
TCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGTACATAGTCCTTCC
CGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCGGC
CTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGCGGGGGGTCTTGGG
GGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTCCTCGCTCAGTTTG
ACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAAAGGGAAGACGCTGCTGGTG

>15363_15363_4_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000389253_length(amino acids)=276AA_BP=1
MTSGDLPASASQSAGITGVSHHSRLKIHFKKIYSSMMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRM
LKTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSS
IHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPA
EPSLLD

--------------------------------------------------------------
>15363_15363_5_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000408974_length(transcript)=1748nt_BP=816nt
ACAGCAGAAGACTGCCGTGGAACCTTCCCTACTGTAGAGGAAAGTGCTGACTTTAAGCAATTTCTGCAGTCACGCCTTCCTCTTCTTTCC
TTTCTCCCTCTCATTCATTCACTGACGCCGCAGCACTGATCAGCACAGACACAGAAGATGCCTCCAAGGGACCAAAGGGAATAACCGCGG
TTCTGAGGACCGTGACAAACACTCATCGTTGGGTGGGGCTCTAGTGCAGTCCGTTGGTGCCAATATTTTATAAGCGACGTTTTCAAACTA
TGTGAAGATCCTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCGCCCGGGC
TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCACGCGATTCTCCTGCCTCAGTCTCCTGAGTTGCTGGGA
CTACGGGCGCCCATCACCACACCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGAGTTTCAGTATGTTGGCCAGACTGGTCTCGAACTC
CTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATTCTCGGCTGAAGATCCATTTTAAG
AAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAAATGTAGAAACAGG
GACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCGGGAAATCCGAATG
CTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGAC
CAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTG
TCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCGACCGGTGTCCAGC
ATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTC
TCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGG
CCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCC
GAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTTCAGTGGTCTGGGG
CCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCAGGGCCGGCCCCTG
TGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGGGATGGAGTCTCAG
GGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTCTTCTTGGGCTGGG
AAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCA

>15363_15363_5_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000408974_length(amino acids)=276AA_BP=1
MTSGDLPASASQSAGITGVSHHSRLKIHFKKIYSSMMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRM
LKTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSS
IHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPA
EPSLLD

--------------------------------------------------------------
>15363_15363_6_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000585892_length(transcript)=1368nt_BP=816nt
ACAGCAGAAGACTGCCGTGGAACCTTCCCTACTGTAGAGGAAAGTGCTGACTTTAAGCAATTTCTGCAGTCACGCCTTCCTCTTCTTTCC
TTTCTCCCTCTCATTCATTCACTGACGCCGCAGCACTGATCAGCACAGACACAGAAGATGCCTCCAAGGGACCAAAGGGAATAACCGCGG
TTCTGAGGACCGTGACAAACACTCATCGTTGGGTGGGGCTCTAGTGCAGTCCGTTGGTGCCAATATTTTATAAGCGACGTTTTCAAACTA
TGTGAAGATCCTTTCTTTTCTTTTCTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCGCCCGGGC
TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTGCGCCTCCCAGGTTCACGCGATTCTCCTGCCTCAGTCTCCTGAGTTGCTGGGA
CTACGGGCGCCCATCACCACACCCGGCTAATTTTTTGTATCTTTAGTAGAGACGGAGTTTCAGTATGTTGGCCAGACTGGTCTCGAACTC
CTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATTCTCGGCTGAAGATCCATTTTAAG
AAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAAATGTAGAAACAGG
GACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCGGGAAATCCGAATG
CTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGAGGAGTCGGCTGAC
CAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAGCACCAGCACTGTG
TCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCGACCGGTGTCCAGC
ATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCTTC
TCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCAGATCCCATCTCGG
CCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTATCCGCCCAGCCGAG
CCATCCCTGCTCGACTAG

>15363_15363_6_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000216378_DNM2_chr19_10939711_ENST00000585892_length(amino acids)=275AA_BP=1
MTSGDLPASASQSAGITGVSHHSRLKIHFKKIYSSMMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRM
LKTKAFIHHELLAYLYSSADQSSLMEESADQAQRRDDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSS
IHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPIPSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPRRPPAAPSRPTIIRPAE
PSLLD

--------------------------------------------------------------
>15363_15363_7_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000314646_length(transcript)=1610nt_BP=199nt
GATCCATTTTAAGAAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAA
ATGTAGAAACAGGGACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCG
GGAAATCCGAATGCTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGA
GGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAG
CACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCG
ACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGC
AGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCA
GATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCAT
TATCCGCCCAGCCGAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTT
CAGTGGTCTGGGGCCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCA
GGGCCGGCCCCTGTGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGG
GATGGAGTCTCAGGGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTC
TTCTTGGGCTGGGAAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAG
GGGTATATCAACTTCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGT
ACATAGTCCTTCCCGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTT
GGCCCGGGCCGGCCTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGC
GGGGGGTCTTGGGGGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTC
CTCGCTCAGTTTGACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAAAGGGAAGACGCTGCTGGTG

>15363_15363_7_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000314646_length(amino acids)=241AA_BP=57
MMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRMLKTKAFIHHELLAYLYSSADQSSLMEESADQAQRR
DDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPI
PSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

--------------------------------------------------------------
>15363_15363_8_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000355667_length(transcript)=1602nt_BP=199nt
GATCCATTTTAAGAAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAA
ATGTAGAAACAGGGACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCG
GGAAATCCGAATGCTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGA
GGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAG
CACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCG
ACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGC
AGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCA
GATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCAT
TATCCGCCCAGCCGAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTT
CAGTGGTCTGGGGCCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCA
GGGCCGGCCCCTGTGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGG
GATGGAGTCTCAGGGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTC
TTCTTGGGCTGGGAAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAG
GGGTATATCAACTTCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGT
ACATAGTCCTTCCCGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTT
GGCCCGGGCCGGCCTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGC
GGGGGGTCTTGGGGGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTC
CTCGCTCAGTTTGACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAAAGGGAAGACGC

>15363_15363_8_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000355667_length(amino acids)=241AA_BP=57
MMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRMLKTKAFIHHELLAYLYSSADQSSLMEESADQAQRR
DDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPI
PSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

--------------------------------------------------------------
>15363_15363_9_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000359692_length(transcript)=1591nt_BP=199nt
GATCCATTTTAAGAAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAA
ATGTAGAAACAGGGACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCG
GGAAATCCGAATGCTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGA
GGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAG
CACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCG
ACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGC
AGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCA
GATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCAT
TATCCGCCCAGCCGAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTT
CAGTGGTCTGGGGCCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCA
GGGCCGGCCCCTGTGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGG
GATGGAGTCTCAGGGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTC
TTCTTGGGCTGGGAAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAG
GGGTATATCAACTTCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGT
ACATAGTCCTTCCCGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTT
GGCCCGGGCCGGCCTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGC
GGGGGGTCTTGGGGGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTC
CTCGCTCAGTTTGACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAA

>15363_15363_9_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000359692_length(amino acids)=241AA_BP=57
MMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRMLKTKAFIHHELLAYLYSSADQSSLMEESADQAQRR
DDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPI
PSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

--------------------------------------------------------------
>15363_15363_10_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000389253_length(transcript)=1610nt_BP=199nt
GATCCATTTTAAGAAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAA
ATGTAGAAACAGGGACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCG
GGAAATCCGAATGCTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGA
GGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAG
CACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCG
ACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGC
AGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCA
GATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCAT
TATCCGCCCAGCCGAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTT
CAGTGGTCTGGGGCCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCA
GGGCCGGCCCCTGTGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGG
GATGGAGTCTCAGGGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTC
TTCTTGGGCTGGGAAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCACCAAGGGCGCCTACATCCCCAGGCCTTGCTGGGGTGCAG
GGGTATATCAACTTCCCATTAGCAGGAGCTCCCCAGCGGCAAGCCTGGCCCAGTGGGCTCGGTAGTGCCCAGCTGGCAGGCCTGAGGTGT
ACATAGTCCTTCCCGGCCATATTAACCACACAGCCTGAGCCTGGCCCAGCCTCGGCTGCCAGAGGTGCCTTTGCTAGGCCCGGAGCCGTT
GGCCCGGGCCGGCCTTGCCCTATTCCTCTCCTCCTCCTCCTCCTGGGTCCCCCAGGGTGGCTGGGCTTGGGCTATGTGGGTGGTGGTGGC
GGGGGGTCTTGGGGGCCTCTCAGCTCCCGCCCATGCCTCCCTGATGGGTGGGCCCAGGGCGGCCTCTCTCTGAGGAGACCTCACCCACTC
CTCGCTCAGTTTGACCACTGTAAGTGCCTGCACTCTGTATTCTATTAATAAACTAAAATAAAGGGAAGACGCTGCTGGTG

>15363_15363_10_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000389253_length(amino acids)=241AA_BP=57
MMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRMLKTKAFIHHELLAYLYSSADQSSLMEESADQAQRR
DDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPI
PSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

--------------------------------------------------------------
>15363_15363_11_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000408974_length(transcript)=1131nt_BP=199nt
GATCCATTTTAAGAAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAA
ATGTAGAAACAGGGACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCG
GGAAATCCGAATGCTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGA
GGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAG
CACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCG
ACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGC
AGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCA
GATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCAT
TATCCGCCCAGCCGAGCCATCCCTGCTCGACTAGGCCTCGAGGGGGGCGTGCTCTCGGGGGGGCCTCACGCACCCGCGGCGCAGGAGCTT
CAGTGGTCTGGGGCCCTCCGCCGCCCCTATGCTGGGACCAGGCTCCCAGTGGGCAGCCCTGGCCTCTTCCTTAACGCTGGCCCCGGTCCA
GGGCCGGCCCCTGTGCCTGGCTGGACACCGCACTGCGCAAAGGGGCCCTGGAGCTCCAGGCAGGGGGCGCTGGGGTGTTGCACTTTGGGG
GATGGAGTCTCAGGGTGGCAGAGGGGGGACCAGAACCCTTGACACCATCCTGAATGAGGGGTCCAGCCTGGGGGGGACTCTACCAAGGTC
TTCTTGGGCTGGGAAAGCCCATGTAGGGCAGGCCTTCTATAAGTGCGGGCA

>15363_15363_11_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000408974_length(amino acids)=241AA_BP=57
MMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRMLKTKAFIHHELLAYLYSSADQSSLMEESADQAQRR
DDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPI
PSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPSRRPPAAPSRPTIIRPAEPSLLD

--------------------------------------------------------------
>15363_15363_12_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000585892_length(transcript)=751nt_BP=199nt
GATCCATTTTAAGAAGATTTATTCCTCTATGATGGAGAAGTATGAAAAAATTGGGAAAATTGGAGAAGGATCCTATGGAGTTGTTTTCAA
ATGTAGAAACAGGGACACGGGTCAGATTGTGGCCATCAAGAAGTTTCTGGAATCAGAAGATGACCCTGTCATAAAGAAAATTGCCCTTCG
GGAAATCCGAATGCTCAAGACGAAGGCCTTCATCCACCACGAGCTGCTGGCCTACCTATACTCCTCGGCAGACCAGAGCAGCCTCATGGA
GGAGTCGGCTGACCAGGCACAGCGGCGGGACGACATGCTGCGCATGTACCATGCCCTCAAGGAGGCGCTCAACATCATCGGTGACATCAG
CACCAGCACTGTGTCCACGCCTGTACCCCCGCCTGTCGATGACACCTGGCTCCAGAGCGCCAGCAGCCACAGCCCCACTCCACAGCGCCG
ACCGGTGTCCAGCATACACCCCCCTGGCCGGCCCCCAGCAGTGAGGGGCCCCACTCCAGGGCCCCCCCTGATTCCTGTTCCCGTGGGGGC
AGCAGCCTCCTTCTCGGCGCCCCCAATCCCATCCCGGCCTGGACCCCAGAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTCA
GATCCCATCTCGGCCAGTTCGGATCCCCCCAGGGATTCCCCCAGGAGTGCCCAGAAGACCCCCTGCTGCGCCCAGCCGGCCCACCATTAT
CCGCCCAGCCGAGCCATCCCTGCTCGACTAG

>15363_15363_12_CDKL1-DNM2_CDKL1_chr14_50862418_ENST00000395834_DNM2_chr19_10939711_ENST00000585892_length(amino acids)=241AA_BP=57
MMEKYEKIGKIGEGSYGVVFKCRNRDTGQIVAIKKFLESEDDPVIKKIALREIRMLKTKAFIHHELLAYLYSSADQSSLMEESADQAQRR
DDMLRMYHALKEALNIIGDISTSTVSTPVPPPVDDTWLQSASSHSPTPQRRPVSSIHPPGRPPAVRGPTPGPPLIPVPVGAAASFSAPPI
PSRPGPQSVFANSDLFPAPPQIPSRPVRIPPGIPPGVPRRPPAAPSRPTIIRPAEPSLLDX

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

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Fusion Gene PPI Analysis for CDKL1-DNM2

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for CDKL1-DNM2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Hgene	CDKL1	Q00532	DB12010	Fostamatinib	Inhibitor	Small molecule	Approved\|Investigational

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Related Diseases for CDKL1-DNM2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene		C4551952	Myopathy, Centronuclear, 1	13	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene		C1847902	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)	8	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C1834558	Myopathy, Centronuclear, Autosomal Dominant	7	CLINGEN;CTD_human;ORPHANET
Tgene		C0175709	Centronuclear myopathy	2	CTD_human;GENOMICS_ENGLAND
Tgene		C3809272	LETHAL CONGENITAL CONTRACTURE SYNDROME 5	2	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0410203	X-linked centronuclear myopathy	1	CTD_human
Tgene		C0410207	Tubular Aggregate Myopathy	1	CTD_human
Tgene		C0546264	Congenital Fiber Type Disproportion	1	CTD_human
Tgene		C0752282	Congenital Structural Myopathy	1	CTD_human
Tgene		C3645536	Autosomal Recessive Centronuclear Myopathy	1	CTD_human
Tgene		C3661489	Autosomal Dominant Myotubular Myopathy	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:CDKL1-DNM2 (FusionGDB2 ID:HG8814TG1785)

Fusion Gene Summary for CDKL1-DNM2

Fusion Gene ORF analysis for CDKL1-DNM2

Fusion Genomic Features for CDKL1-DNM2

Fusion Protein Features for CDKL1-DNM2

Fusion Gene Sequence for CDKL1-DNM2

Fusion Gene PPI Analysis for CDKL1-DNM2

Related Drugs for CDKL1-DNM2

Related Diseases for CDKL1-DNM2

Fusion Gene Studies
in Kim Lab