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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:CDKAL1-TBC1D1 (FusionGDB2 ID:15395)

Fusion Gene Summary for CDKAL1-TBC1D1

Fusion gene summary

Fusion gene information	Fusion gene name: CDKAL1-TBC1D1
	Fusion gene ID: 15395
		Hgene	Tgene
	Gene symbol	CDKAL1	TBC1D1
	Gene ID	54901	23216
	Gene name	CDK5 regulatory subunit associated protein 1 like 1	TBC1 domain family member 1
	Synonyms	-	TBC\|TBC1
	Cytomap	6p22.3	4p14
	Type of gene	protein-coding	protein-coding
	Description	threonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferase	TBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
	Modification date	20200322	20200320
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000274695, ENST00000378624, ENST00000378610, ENST00000476517,	ENST00000508802, ENST00000261439, ENST00000402522, ENST00000407365,
Fusion gene scores	* DoF score	37 X 20 X 14=10360	14 X 11 X 6=924
	# samples	39	15
	** MAII score	log2(39/10360*10)=-4.73140606882431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/924*10)=-2.62293035092018 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CDKAL1 [Title/Abstract] AND TBC1D1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CDKAL1(20548936)-TBC1D1(38091553), # samples:3
Anticipated loss of major functional domain due to fusion event.

* 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

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 TBC1D1 (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 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	BLCA	TCGA-GV-A3JZ-01A	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
ChimerDB4	BLCA	TCGA-GV-A3JZ-01A	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
ChimerDB4	BLCA	TCGA-GV-A3JZ-01A	CDKAL1	chr6	20548936	-	TBC1D1	chr4	38091553	+

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Fusion Gene ORF analysis for CDKAL1-TBC1D1

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
In-frame	ENST00000274695	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
In-frame	ENST00000274695	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000274695	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000274695	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000378624	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000378624	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000378624	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000378624	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
In-frame	ENST00000378610	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
In-frame	ENST00000378610	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000378610	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000378610	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000476517	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000476517	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000476517	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000476517	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+

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)

ENST00000274695

CDKAL1

chr6

20548936

ENST00000508802

TBC1D1

chr4

38091553

1885

453

167

1600

477

ENST00000274695

CDKAL1

chr6

20548936

ENST00000261439

TBC1D1

chr4

38091553

3748

453

167

1909

580

ENST00000378610

CDKAL1

chr6

20548936

ENST00000508802

TBC1D1

chr4

38091553

1728

296

1443

477

ENST00000378610

CDKAL1

chr6

20548936

ENST00000261439

TBC1D1

chr4

38091553

3591

296

1752

580

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	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+	0.002040035	0.99796
ENST00000274695	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+	0.000431976	0.99956805
ENST00000378610	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+	0.003052349	0.9969477
ENST00000378610	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+	0.000475256	0.9995247

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Fusion Genomic Features for CDKAL1-TBC1D1

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)
CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091552	+	3.25E-05	0.99996746
CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091552	+	3.25E-05	0.99996746

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 CDKAL1-TBC1D1

Go to
FGviewer for the breakpoints of chr6:20548936-chr4:38091553
.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.

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

Hgene	Tgene
.	.
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: 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.

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

Tgene

TBC1D1

chr6:20548936

chr4:38091553

ENST00000261439

800_994

683.3333333333334

1169.0

Domain

Rab-GAP TBC

Tgene

TBC1D1

chr6:20548936

chr4:38091553

ENST00000508802

800_994

777.3333333333334

1160.0

Domain

Rab-GAP TBC

- 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

CDKAL1

chr6:20548936

chr4:38091553

ENST00000274695

200_431

95.33333333333333

580.0

Domain

Radical SAM core

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000274695

431_493

95.33333333333333

580.0

Domain

TRAM

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000274695

64_172

95.33333333333333

580.0

Domain

MTTase N-terminal

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378610

200_431

95.33333333333333

580.0

Domain

Radical SAM core

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378610

431_493

95.33333333333333

580.0

Domain

TRAM

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378610

64_172

95.33333333333333

580.0

Domain

MTTase N-terminal

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378624

200_431

489.0

Domain

Radical SAM core

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378624

431_493

489.0

Domain

TRAM

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378624

64_172

489.0

Domain

MTTase N-terminal

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000274695

556_578

95.33333333333333

580.0

Transmembrane

Helical

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378610

556_578

95.33333333333333

580.0

Transmembrane

Helical

Hgene

CDKAL1

chr6:20548936

chr4:38091553

ENST00000378624

556_578

489.0

Transmembrane

Helical

Tgene

TBC1D1

chr6:20548936

chr4:38091553

ENST00000261439

246_404

683.3333333333334

1169.0

Domain

PID

Tgene

TBC1D1

chr6:20548936

chr4:38091553

ENST00000508802

246_404

777.3333333333334

1160.0

Domain

PID

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Fusion Gene Sequence for CDKAL1-TBC1D1

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.

>In-frame_ENST00000274695_ENST00000508802_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(transcript)=1885nt_BP=453nt
AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTT
GGACTGGTTTTTACTTCCCGACTTCTGGACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAGAGAATATGCCTTCTGCAT
CCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTG
TCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGCACTATTCCAGGCATACAGA
AAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCTAGCTGCTTATGGCTATAAAATTA
CAGATTATTCAGAGCTGGGAGAGCTTCCCCCACGATCTCCTTTAGAACCAGTTTGTGAAGATGGGCCCTTTGGCCCCCCACCAGAGGAAA
AGAAAAGGACATCTCGTGAGCTCCGAGAGCTGTGGCAAAAGGCTATTCTTCAACAGATACTGCTGCTTAGAATGGAGAAGGAAAATCAGA
AGCTCCAAGCCTCTGAAAATGATTTGCTGAACAAGCGCCTGAAGCTCGATTATGAAGAAATTACTCCCTGTCTTAAAGAAGTAACTACAG
TGTGGGAAAAGATGCTTAGCACTCCAGGAAGATCAAAAATTAAGTTTGACATGGAAAAAATGCACTCGGCTGTTGGGCAAGGTGTGCCAC
GTCATCACCGAGGTGAAATCTGGAAATTTCTAGCTGAGCAATTCCACCTTAAACACCAGTTTCCCAGCAAACAGCAGCCAAAGGATGTGC
CATACAAAGAACTCTTAAAGCAGCTGACTTCCCAGCAGCATGCGATTCTTATTGACCTTGGGCGAACCTTTCCTACACACCCATACTTCT
CTGCCCAGCTTGGAGCAGGACAGCTATCGCTTTACAACATTTTGAAGGCCTACTCACTTCTAGACCAGGAAGTGGGATATTGCCAAGGTC
TCAGCTTTGTAGCAGGCATTTTGCTTCTTCATATGAGTGAGGAAGAGGCGTTTAAAATGCTCAAGTTTCTGATGTTTGACATGGGGCTGC
GGAAACAGTATCGGCCAGACATGATTATTTTACAGATGGAAAAGACCATCAATCAGGTATTTGAAATGGACATCGCTAAACAGTTACAAG
CTTATGAAGTTGAGTACCACGTCCTTCAAGAAGAACTTATCGATTCCTCTCCTCTCAGTGACAACCAAAGAATGGATAAATTAGAGAAAA
CCAACAGCAGCTTACGCAAACAGAACCTTGACCTCCTTGAACAGTTGCAGGTGGCAAATGGTAGGATCCAAAGCCTTGAGGCCACCATTG
AGAAGCTCCTGAGCAGTGAGAGCAAGCTGAAGCAGGCCATGCTTACCTTAGAACTGGAGCGGTCGGCCCTGCTGCAGACGGTGGAGGAGC
TGCGGCGGCGGAGCGCAGAGCCCAGCGACCGGGAGCCTGAGTGCACGCAGCCCGAGCCCACGGGCGACTGACAGCTCTGCAGGAGAGATT
GCAACACCATCCCACACTGTCCAGGCCTTAACTGAGAGGGACAGAAGACGCTGGAAGGAGAGAAGGAAGCGGGAAGTGTGCTTCTCAGGG
AGGAAACCGGCTTGCCAGCAAGTAGATTCTTACGAACTCCAACTTGCAATTCAGGGGGCATGTCCCAGTGTTTTTTTTGTTGTTTTTAGA

>In-frame_ENST00000274695_ENST00000508802_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(amino acids)=477AA_start in transcript=167_stop in transcript=1600
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITDYSELGELPPRSPLEPVCEDGPFGPPPEEKKRTSRELRELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLK
EVTTVWEKMLSTPGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQLTSQQHAILIDLGRTFPT
HPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGILLLHMSEEEAFKMLKFLMFDMGLRKQYRPDMIILQMEKTINQVFEMDIA
KQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQAMLTLELERSALLQ

--------------------------------------------------------------
>In-frame_ENST00000274695_ENST00000261439_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(transcript)=3748nt_BP=453nt
AAATAAACGTGGCGGGACGTATGTGTCATGGCGCTCTCCATCTAAAGTCTGTGCAGCTTCCGGAGAGTGGCGGGTTGATTTTCTCACTTT
GGACTGGTTTTTACTTCCCGACTTCTGGACTCATCTTTCAAGAGGACTTTAGACTAATTGCAGATAATTAAGAGAATATGCCTTCTGCAT
CCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAGGCATTTTGTAAGAAAGGATGTTG
TCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGACAGCACTATTCCAGGCATACAGA
AAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCTAGCTGCTTATGGCTATAAAATTA
CAGATTATTCAGAGCTGGGAGAGCTTCCCCCACGATCTCCTTTAGAACCAGTTTGTGAAGATGGGCCCTTTGGCCCCCCACCAGAGGAAA
AGAAAAGGACATCTCGTGAGCTCCGAGAGCTGTGGCAAAAGGCTATTCTTCAACAGATACTGCTGCTTAGAATGGAGAAGGAAAATCAGA
AGCTCCAAGCCTCTGAAAATGATTTGCTGAACAAGCGCCTGAAGCTCGATTATGAAGAAATTACTCCCTGTCTTAAAGAAGTAACTACAG
TGTGGGAAAAGATGCTTAGCACTCCAGGAAGATCAAAAATTAAGTTTGACATGGAAAAAATGCACTCGGCTGTTGGGCAAGGTGTGCCAC
GTCATCACCGAGGTGAAATCTGGAAATTTCTAGCTGAGCAATTCCACCTTAAACACCAGTTTCCCAGCAAACAGCAGCCAAAGGATGTGC
CATACAAAGAACTCTTAAAGCAGCTGACTTCCCAGCAGCATGCGATTCTTATTGACCTTGGGCGAACCTTTCCTACACACCCATACTTCT
CTGCCCAGCTTGGAGCAGGACAGCTATCGCTTTACAACATTTTGAAGGCCTACTCACTTCTAGACCAGGAAGTGGGATATTGCCAAGGTC
TCAGCTTTGTAGCAGGCATTTTGCTTCTTCATATGAGTGAGGAAGAGGCGTTTAAAATGCTCAAGTTTCTGATGTTTGACATGGGGCTGC
GGAAACAGTATCGGCCAGACATGATTATTTTACAGATCCAGATGTACCAGCTCTCGAGGTTGCTTCATGATTACCACAGAGACCTCTACA
ATCACCTGGAGGAGCACGAGATCGGCCCCAGCCTCTACGCTGCCCCCTGGTTCCTCACCATGTTTGCCTCACAGTTCCCGCTGGGATTCG
TAGCCAGAGTCTTTGATATGATTTTTCTTCAGGGAACAGAGGTCATATTTAAAGTGGCTTTAAGTCTGTTGGGAAGCCATAAGCCCTTGA
TTCTGCAGCATGAAAACCTAGAAACCATAGTTGACTTTATAAAAAGCACGCTACCCAACCTTGGCTTGGTACAGATGGAAAAGACCATCA
ATCAGGTATTTGAAATGGACATCGCTAAACAGTTACAAGCTTATGAAGTTGAGTACCACGTCCTTCAAGAAGAACTTATCGATTCCTCTC
CTCTCAGTGACAACCAAAGAATGGATAAATTAGAGAAAACCAACAGCAGCTTACGCAAACAGAACCTTGACCTCCTTGAACAGTTGCAGG
TGGCAAATGGTAGGATCCAAAGCCTTGAGGCCACCATTGAGAAGCTCCTGAGCAGTGAGAGCAAGCTGAAGCAGGCCATGCTTACCTTAG
AACTGGAGCGGTCGGCCCTGCTGCAGACGGTGGAGGAGCTGCGGCGGCGGAGCGCAGAGCCCAGCGACCGGGAGCCTGAGTGCACGCAGC
CCGAGCCCACGGGCGACTGACAGCTCTGCAGGAGAGATTGCAACACCATCCCACACTGTCCAGGCCTTAACTGAGAGGGACAGAAGACGC
TGGAAGGAGAGAAGGAAGCGGGAAGTGTGCTTCTCAGGGAGGAAACCGGCTTGCCAGCAAGTAGATTCTTACGAACTCCAACTTGCAATT
CAGGGGGCATGTCCCAGTGTTTTTTTTGTTGTTTTTAGATACTAAATCGTCCCTTCTCCAGTCCTGATTACTGTACACAGTAGCTTTAGA
TGGCGTGGACGTGAATAAATGCAACTTATGTTTTCTTGTTGGTTCCTTTTTGAGTGTCACTGTGTTTGTAAAGAGCATTCACAATACGGT
GGAATTTCAAAAGCTGGAAGAGCTCGAGATCATGCCTCAGGCAAAGGCGTGGGTCCATCGTTCTTCCGAGAGGGTTTGTGTGGCGACTAC
ACCCTCAGCGTCCCTGGCAAGGTGCAGTTGGCTCTCGCCCATTCTTGTTATGGAAACCTAAGATGATCATTGGGAAGATCAGTGATCTTG
GGTCATTGATCCCTGGCTCAGAGGATAGCGGTTTCCATCATAAACCAAGATGATGAGTTCAGCCTTTATCCCTCGTGGTTCCACTAGATG
TAACTTAAAGGAGTTAACATTTGAGGACTTTGTTCTACATCAGATTTTACTATTTGAATGTTTAAGATCACTTTATTGAATTTGAAGATC
ATCAAATTAAATAAAATGATTTATTTAATTTGGATATCCTGATCACTGTCAAGTGAAATGGATCTCTCTCTTTGGTATTTAAGGAAGTTT
GTCTTTAAAAAAAAAATAGAGTGTTTTCATACATTTTTGCTTATCCCATAAGTACAGTTGATCAAAGTCATAGTAGGTAAATGCTTTATG
GGACAGCTGACACCTTTTAGACCCTACCAGGTATTGCTAGCATGTGAGCTGCAGTTGTGGGGTCTGAGATATTTCTTTGTGGTAGTTTCA
TACCCATACTATAGAGTCATGTATTTATTTTTGCCTGTTGTGTGATGTAATGCAATCATGTTCCTTTGAGTCTCCATCCCTTGGAAATCT
GACTTCTTGCAGAAGGAGTAGGCACATCAAGATATTCAGGGGTGCCCCAAGAGTCTGGGACTTTCAAAAAAAAAAGATCAGGCTGAAACT
GCAGTCAGATTTATGACAGCTGACAGTTTTTCAGAGGTCGCACACAGTGACTCTCCTCTCTCAGGATGACGAGGACCTGTGCCTTCAACA
AGCAAAATGCTGCTCACGGTTGTCCTGCTTGCAGCCAGTCACTGTGTAAAGCCTCTCTGATGTGCACTTAAGAGTGGGTTGCTTTCTCAC
AAAGATGGGGTTCTGTGCAGTCACAGGTCACTTCCTTGACAACACAATCATTTCTGATCTTTATCACTGTAACCACGTCTTCTATTCCAT
AGGAGTTTCTTTTGATTCTCTCAGTTGCGGGGGGCATCTCTTAATCCTGGGGTAAAAGGAGAGATTGCCATACTTAGACTCACTGTGAGT
CTCCCCGGCCATTTCACGAGGAGACCACAGTGCTGCCACCAGTGCCTAAACAGGTGGCTGGCATTCGAGACTTCCTCCTGTTCCCTGGGT
CAGAGGATAGCGGTTTCCATCATAAACCAAGATGATGAGTTCAGCCTTTATCCCTCGTGGTTCCGCTAGATGTAACTTATAGGAGTTAAC
ATTTGAGGACTTTGTTCTGCATCAGATCTTACTATTTGAATGTTTACTGTTGGATTTTGGGCATCTTATTACTGTTACTCAAAAACATTG

>In-frame_ENST00000274695_ENST00000261439_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(amino acids)=580AA_start in transcript=167_stop in transcript=1909
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITDYSELGELPPRSPLEPVCEDGPFGPPPEEKKRTSRELRELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLK
EVTTVWEKMLSTPGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQLTSQQHAILIDLGRTFPT
HPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGILLLHMSEEEAFKMLKFLMFDMGLRKQYRPDMIILQIQMYQLSRLLHDYH
RDLYNHLEEHEIGPSLYAAPWFLTMFASQFPLGFVARVFDMIFLQGTEVIFKVALSLLGSHKPLILQHENLETIVDFIKSTLPNLGLVQM
EKTINQVFEMDIAKQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQA

--------------------------------------------------------------
>In-frame_ENST00000378610_ENST00000508802_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(transcript)=1728nt_BP=296nt
GGTAGAGAATATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAG
GCATTTTGTAAGAAAGGATGTTGTCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGA
CAGCACTATTCCAGGCATACAGAAAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCT
AGCTGCTTATGGCTATAAAATTACAGATTATTCAGAGCTGGGAGAGCTTCCCCCACGATCTCCTTTAGAACCAGTTTGTGAAGATGGGCC
CTTTGGCCCCCCACCAGAGGAAAAGAAAAGGACATCTCGTGAGCTCCGAGAGCTGTGGCAAAAGGCTATTCTTCAACAGATACTGCTGCT
TAGAATGGAGAAGGAAAATCAGAAGCTCCAAGCCTCTGAAAATGATTTGCTGAACAAGCGCCTGAAGCTCGATTATGAAGAAATTACTCC
CTGTCTTAAAGAAGTAACTACAGTGTGGGAAAAGATGCTTAGCACTCCAGGAAGATCAAAAATTAAGTTTGACATGGAAAAAATGCACTC
GGCTGTTGGGCAAGGTGTGCCACGTCATCACCGAGGTGAAATCTGGAAATTTCTAGCTGAGCAATTCCACCTTAAACACCAGTTTCCCAG
CAAACAGCAGCCAAAGGATGTGCCATACAAAGAACTCTTAAAGCAGCTGACTTCCCAGCAGCATGCGATTCTTATTGACCTTGGGCGAAC
CTTTCCTACACACCCATACTTCTCTGCCCAGCTTGGAGCAGGACAGCTATCGCTTTACAACATTTTGAAGGCCTACTCACTTCTAGACCA
GGAAGTGGGATATTGCCAAGGTCTCAGCTTTGTAGCAGGCATTTTGCTTCTTCATATGAGTGAGGAAGAGGCGTTTAAAATGCTCAAGTT
TCTGATGTTTGACATGGGGCTGCGGAAACAGTATCGGCCAGACATGATTATTTTACAGATGGAAAAGACCATCAATCAGGTATTTGAAAT
GGACATCGCTAAACAGTTACAAGCTTATGAAGTTGAGTACCACGTCCTTCAAGAAGAACTTATCGATTCCTCTCCTCTCAGTGACAACCA
AAGAATGGATAAATTAGAGAAAACCAACAGCAGCTTACGCAAACAGAACCTTGACCTCCTTGAACAGTTGCAGGTGGCAAATGGTAGGAT
CCAAAGCCTTGAGGCCACCATTGAGAAGCTCCTGAGCAGTGAGAGCAAGCTGAAGCAGGCCATGCTTACCTTAGAACTGGAGCGGTCGGC
CCTGCTGCAGACGGTGGAGGAGCTGCGGCGGCGGAGCGCAGAGCCCAGCGACCGGGAGCCTGAGTGCACGCAGCCCGAGCCCACGGGCGA
CTGACAGCTCTGCAGGAGAGATTGCAACACCATCCCACACTGTCCAGGCCTTAACTGAGAGGGACAGAAGACGCTGGAAGGAGAGAAGGA
AGCGGGAAGTGTGCTTCTCAGGGAGGAAACCGGCTTGCCAGCAAGTAGATTCTTACGAACTCCAACTTGCAATTCAGGGGGCATGTCCCA
GTGTTTTTTTTGTTGTTTTTAGATACTAAATCGTCCCTTCTCCAGTCCTGATTACTGTACACAGTAGCTTTAGATGGCGTGGACGTGAAT

>In-frame_ENST00000378610_ENST00000508802_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(amino acids)=477AA_start in transcript=10_stop in transcript=1443
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITDYSELGELPPRSPLEPVCEDGPFGPPPEEKKRTSRELRELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLK
EVTTVWEKMLSTPGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQLTSQQHAILIDLGRTFPT
HPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGILLLHMSEEEAFKMLKFLMFDMGLRKQYRPDMIILQMEKTINQVFEMDIA
KQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQAMLTLELERSALLQ

--------------------------------------------------------------
>In-frame_ENST00000378610_ENST00000261439_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(transcript)=3591nt_BP=296nt
GGTAGAGAATATGCCTTCTGCATCCTGTGATACACTACTGGATGACATCGAAGATATCGTGTCTCAGGAAGATTCAAAACCACAAGATAG
GCATTTTGTAAGAAAGGATGTTGTCCCGAAGGTACGAAGGCGAAATACCCAAAAATATTTGCAAGAGGAAGAAAACAGTCCACCAAGTGA
CAGCACTATTCCAGGCATACAGAAAATTTGGATACGAACATGGGGTTGTTCTCATAATAATTCAGATGGAGAATATATGGCTGGACAGCT
AGCTGCTTATGGCTATAAAATTACAGATTATTCAGAGCTGGGAGAGCTTCCCCCACGATCTCCTTTAGAACCAGTTTGTGAAGATGGGCC
CTTTGGCCCCCCACCAGAGGAAAAGAAAAGGACATCTCGTGAGCTCCGAGAGCTGTGGCAAAAGGCTATTCTTCAACAGATACTGCTGCT
TAGAATGGAGAAGGAAAATCAGAAGCTCCAAGCCTCTGAAAATGATTTGCTGAACAAGCGCCTGAAGCTCGATTATGAAGAAATTACTCC
CTGTCTTAAAGAAGTAACTACAGTGTGGGAAAAGATGCTTAGCACTCCAGGAAGATCAAAAATTAAGTTTGACATGGAAAAAATGCACTC
GGCTGTTGGGCAAGGTGTGCCACGTCATCACCGAGGTGAAATCTGGAAATTTCTAGCTGAGCAATTCCACCTTAAACACCAGTTTCCCAG
CAAACAGCAGCCAAAGGATGTGCCATACAAAGAACTCTTAAAGCAGCTGACTTCCCAGCAGCATGCGATTCTTATTGACCTTGGGCGAAC
CTTTCCTACACACCCATACTTCTCTGCCCAGCTTGGAGCAGGACAGCTATCGCTTTACAACATTTTGAAGGCCTACTCACTTCTAGACCA
GGAAGTGGGATATTGCCAAGGTCTCAGCTTTGTAGCAGGCATTTTGCTTCTTCATATGAGTGAGGAAGAGGCGTTTAAAATGCTCAAGTT
TCTGATGTTTGACATGGGGCTGCGGAAACAGTATCGGCCAGACATGATTATTTTACAGATCCAGATGTACCAGCTCTCGAGGTTGCTTCA
TGATTACCACAGAGACCTCTACAATCACCTGGAGGAGCACGAGATCGGCCCCAGCCTCTACGCTGCCCCCTGGTTCCTCACCATGTTTGC
CTCACAGTTCCCGCTGGGATTCGTAGCCAGAGTCTTTGATATGATTTTTCTTCAGGGAACAGAGGTCATATTTAAAGTGGCTTTAAGTCT
GTTGGGAAGCCATAAGCCCTTGATTCTGCAGCATGAAAACCTAGAAACCATAGTTGACTTTATAAAAAGCACGCTACCCAACCTTGGCTT
GGTACAGATGGAAAAGACCATCAATCAGGTATTTGAAATGGACATCGCTAAACAGTTACAAGCTTATGAAGTTGAGTACCACGTCCTTCA
AGAAGAACTTATCGATTCCTCTCCTCTCAGTGACAACCAAAGAATGGATAAATTAGAGAAAACCAACAGCAGCTTACGCAAACAGAACCT
TGACCTCCTTGAACAGTTGCAGGTGGCAAATGGTAGGATCCAAAGCCTTGAGGCCACCATTGAGAAGCTCCTGAGCAGTGAGAGCAAGCT
GAAGCAGGCCATGCTTACCTTAGAACTGGAGCGGTCGGCCCTGCTGCAGACGGTGGAGGAGCTGCGGCGGCGGAGCGCAGAGCCCAGCGA
CCGGGAGCCTGAGTGCACGCAGCCCGAGCCCACGGGCGACTGACAGCTCTGCAGGAGAGATTGCAACACCATCCCACACTGTCCAGGCCT
TAACTGAGAGGGACAGAAGACGCTGGAAGGAGAGAAGGAAGCGGGAAGTGTGCTTCTCAGGGAGGAAACCGGCTTGCCAGCAAGTAGATT
CTTACGAACTCCAACTTGCAATTCAGGGGGCATGTCCCAGTGTTTTTTTTGTTGTTTTTAGATACTAAATCGTCCCTTCTCCAGTCCTGA
TTACTGTACACAGTAGCTTTAGATGGCGTGGACGTGAATAAATGCAACTTATGTTTTCTTGTTGGTTCCTTTTTGAGTGTCACTGTGTTT
GTAAAGAGCATTCACAATACGGTGGAATTTCAAAAGCTGGAAGAGCTCGAGATCATGCCTCAGGCAAAGGCGTGGGTCCATCGTTCTTCC
GAGAGGGTTTGTGTGGCGACTACACCCTCAGCGTCCCTGGCAAGGTGCAGTTGGCTCTCGCCCATTCTTGTTATGGAAACCTAAGATGAT
CATTGGGAAGATCAGTGATCTTGGGTCATTGATCCCTGGCTCAGAGGATAGCGGTTTCCATCATAAACCAAGATGATGAGTTCAGCCTTT
ATCCCTCGTGGTTCCACTAGATGTAACTTAAAGGAGTTAACATTTGAGGACTTTGTTCTACATCAGATTTTACTATTTGAATGTTTAAGA
TCACTTTATTGAATTTGAAGATCATCAAATTAAATAAAATGATTTATTTAATTTGGATATCCTGATCACTGTCAAGTGAAATGGATCTCT
CTCTTTGGTATTTAAGGAAGTTTGTCTTTAAAAAAAAAATAGAGTGTTTTCATACATTTTTGCTTATCCCATAAGTACAGTTGATCAAAG
TCATAGTAGGTAAATGCTTTATGGGACAGCTGACACCTTTTAGACCCTACCAGGTATTGCTAGCATGTGAGCTGCAGTTGTGGGGTCTGA
GATATTTCTTTGTGGTAGTTTCATACCCATACTATAGAGTCATGTATTTATTTTTGCCTGTTGTGTGATGTAATGCAATCATGTTCCTTT
GAGTCTCCATCCCTTGGAAATCTGACTTCTTGCAGAAGGAGTAGGCACATCAAGATATTCAGGGGTGCCCCAAGAGTCTGGGACTTTCAA
AAAAAAAAGATCAGGCTGAAACTGCAGTCAGATTTATGACAGCTGACAGTTTTTCAGAGGTCGCACACAGTGACTCTCCTCTCTCAGGAT
GACGAGGACCTGTGCCTTCAACAAGCAAAATGCTGCTCACGGTTGTCCTGCTTGCAGCCAGTCACTGTGTAAAGCCTCTCTGATGTGCAC
TTAAGAGTGGGTTGCTTTCTCACAAAGATGGGGTTCTGTGCAGTCACAGGTCACTTCCTTGACAACACAATCATTTCTGATCTTTATCAC
TGTAACCACGTCTTCTATTCCATAGGAGTTTCTTTTGATTCTCTCAGTTGCGGGGGGCATCTCTTAATCCTGGGGTAAAAGGAGAGATTG
CCATACTTAGACTCACTGTGAGTCTCCCCGGCCATTTCACGAGGAGACCACAGTGCTGCCACCAGTGCCTAAACAGGTGGCTGGCATTCG
AGACTTCCTCCTGTTCCCTGGGTCAGAGGATAGCGGTTTCCATCATAAACCAAGATGATGAGTTCAGCCTTTATCCCTCGTGGTTCCGCT
AGATGTAACTTATAGGAGTTAACATTTGAGGACTTTGTTCTGCATCAGATCTTACTATTTGAATGTTTACTGTTGGATTTTGGGCATCTT

>In-frame_ENST00000378610_ENST00000261439_TCGA-GV-A3JZ-01A_CDKAL1_chr6_20548936_+_TBC1D1_chr4_38091553_length(amino acids)=580AA_start in transcript=10_stop in transcript=1752
MPSASCDTLLDDIEDIVSQEDSKPQDRHFVRKDVVPKVRRRNTQKYLQEEENSPPSDSTIPGIQKIWIRTWGCSHNNSDGEYMAGQLAAY
GYKITDYSELGELPPRSPLEPVCEDGPFGPPPEEKKRTSRELRELWQKAILQQILLLRMEKENQKLQASENDLLNKRLKLDYEEITPCLK
EVTTVWEKMLSTPGRSKIKFDMEKMHSAVGQGVPRHHRGEIWKFLAEQFHLKHQFPSKQQPKDVPYKELLKQLTSQQHAILIDLGRTFPT
HPYFSAQLGAGQLSLYNILKAYSLLDQEVGYCQGLSFVAGILLLHMSEEEAFKMLKFLMFDMGLRKQYRPDMIILQIQMYQLSRLLHDYH
RDLYNHLEEHEIGPSLYAAPWFLTMFASQFPLGFVARVFDMIFLQGTEVIFKVALSLLGSHKPLILQHENLETIVDFIKSTLPNLGLVQM
EKTINQVFEMDIAKQLQAYEVEYHVLQEELIDSSPLSDNQRMDKLEKTNSSLRKQNLDLLEQLQVANGRIQSLEATIEKLLSSESKLKQA

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

Top

Fusion Gene PPI Analysis for CDKAL1-TBC1D1

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 CDKAL1-TBC1D1

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

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Related Diseases for CDKAL1-TBC1D1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CDKAL1	C0011860	Diabetes Mellitus, Non-Insulin-Dependent	3	CTD_human
Hgene	CDKAL1	C0005910	Body Weight	2	CTD_human
Hgene	CDKAL1	C0005612	Birth Weight	1	CTD_human
Hgene	CDKAL1	C0263859	Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome	1	CTD_human
Tgene	TBC1D1	C0028754	Obesity	3	CTD_human
Tgene	TBC1D1	C1968949	Cakut	1	GENOMICS_ENGLAND