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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:KRIT1-CDK6

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: KRIT1-CDK6
	FusionPDB ID: 43461
	FusionGDB2.0 ID: 43461
		Hgene	Tgene
	Gene symbol	KRIT1	CDK6
	Gene ID	889	1021
	Gene name	KRIT1 ankyrin repeat containing	cyclin dependent kinase 6
	Synonyms	CAM\|CCM1	MCPH12\|PLSTIRE
	Cytomap	7q21.2	7q21.2
	Type of gene	protein-coding	protein-coding
	Description	krev interaction trapped protein 1ankyrin repeat-containing protein Krit1cerebral cavernous malformations 1 proteinkrev interaction trapped 1	cyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIRE
	Modification date	20200313	20200329
	UniProtAcc	O00522	Q00534
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000340022, ENST00000394503, ENST00000394505, ENST00000394507, ENST00000412043, ENST00000466166,	ENST00000491250, ENST00000265734, ENST00000424848,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	2 X 4 X 2=16	10 X 11 X 5=550
	# samples	4	11
	** MAII score	log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(11/550*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: KRIT1 [Title/Abstract] AND CDK6 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	KRIT1(91871348)-CDK6(92247521), # samples:2 KRIT1(91871347)-CDK6(92247521), # samples:2
Anticipated loss of major functional domain due to fusion event.	KRIT1-CDK6 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. KRIT1-CDK6 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. KRIT1-CDK6 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. KRIT1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. KRIT1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. KRIT1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. KRIT1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.

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

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	CDK6	GO:0001954	positive regulation of cell-matrix adhesion	10205165
Tgene	CDK6	GO:0003323	type B pancreatic cell development	20668294
Tgene	CDK6	GO:0006468	protein phosphorylation	8114739
Tgene	CDK6	GO:0010468	regulation of gene expression	15254224
Tgene	CDK6	GO:0045638	negative regulation of myeloid cell differentiation	17431401
Tgene	CDK6	GO:0045656	negative regulation of monocyte differentiation	26542173
Tgene	CDK6	GO:0045668	negative regulation of osteoblast differentiation	15254224
Tgene	CDK6	GO:0045786	negative regulation of cell cycle	14985467
Tgene	CDK6	GO:2000773	negative regulation of cellular senescence	17420273

Fusion gene breakpoints across KRIT1 (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 CDK6 (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	ESCA	TCGA-L5-A4OW-01A	KRIT1	chr7	91871348	-	CDK6	chr7	92247521	-
ChimerDB4	ESCA	TCGA-L5-A4OW	KRIT1	chr7	91871347	-	CDK6	chr7	92247521	-
ChimerDB4	ESCA	TCGA-L5-A4OW	KRIT1	chr7	91871348	-	CDK6	chr7	92247521	-

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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)
ENST00000394507	KRIT1	chr7	91871348	-	ENST00000265734	CDK6	chr7	92247521	-	11388	886	7201	7668	155
ENST00000394507	KRIT1	chr7	91871348	-	ENST00000424848	CDK6	chr7	92247521	-	1169	886	809	1168	120
ENST00000394503	KRIT1	chr7	91871348	-	ENST00000265734	CDK6	chr7	92247521	-	11001	499	6814	7281	155
ENST00000394503	KRIT1	chr7	91871348	-	ENST00000424848	CDK6	chr7	92247521	-	782	499	422	781	120
ENST00000394507	KRIT1	chr7	91871347	-	ENST00000265734	CDK6	chr7	92247521	-	11388	886	7201	7668	155
ENST00000394507	KRIT1	chr7	91871347	-	ENST00000424848	CDK6	chr7	92247521	-	1169	886	809	1168	120
ENST00000394503	KRIT1	chr7	91871347	-	ENST00000265734	CDK6	chr7	92247521	-	11001	499	6814	7281	155
ENST00000394503	KRIT1	chr7	91871347	-	ENST00000424848	CDK6	chr7	92247521	-	782	499	422	781	120

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
ENST00000394507	ENST00000265734	KRIT1	chr7	91871348	-	CDK6	chr7	92247521	-	0.022356322	0.97764367
ENST00000394507	ENST00000424848	KRIT1	chr7	91871348	-	CDK6	chr7	92247521	-	0.013711154	0.9862889
ENST00000394503	ENST00000265734	KRIT1	chr7	91871348	-	CDK6	chr7	92247521	-	0.02303743	0.97696257
ENST00000394503	ENST00000424848	KRIT1	chr7	91871348	-	CDK6	chr7	92247521	-	0.023126315	0.9768737
ENST00000394507	ENST00000265734	KRIT1	chr7	91871347	-	CDK6	chr7	92247521	-	0.022356322	0.97764367
ENST00000394507	ENST00000424848	KRIT1	chr7	91871347	-	CDK6	chr7	92247521	-	0.013711154	0.9862889
ENST00000394503	ENST00000265734	KRIT1	chr7	91871347	-	CDK6	chr7	92247521	-	0.02303743	0.97696257
ENST00000394503	ENST00000424848	KRIT1	chr7	91871347	-	CDK6	chr7	92247521	-	0.023126315	0.9768737

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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

>43461_43461_1_KRIT1-CDK6_KRIT1_chr7_91871347_ENST00000394503_CDK6_chr7_92247521_ENST00000265734_length(amino acids)=155AA_BP=
MNQNATYTRGSQKLAEKSPASFAPLLPGTRVQLKPLCERPNSTPGFVITVASLNPICSCSKLDSHLKAFRARCLVAPPLWQERGSGRGRA

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

>43461_43461_2_KRIT1-CDK6_KRIT1_chr7_91871347_ENST00000394503_CDK6_chr7_92247521_ENST00000424848_length(amino acids)=120AA_BP=26
MHMLLLFVQRILPVSILGNTELSHMNVIGLPGEEDWPRDVALPRQAFHSKSAQPIEKFVTDIDELGKDLLLKCLTFNPAKRISAYSALSH

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

>43461_43461_3_KRIT1-CDK6_KRIT1_chr7_91871347_ENST00000394507_CDK6_chr7_92247521_ENST00000265734_length(amino acids)=155AA_BP=
MNQNATYTRGSQKLAEKSPASFAPLLPGTRVQLKPLCERPNSTPGFVITVASLNPICSCSKLDSHLKAFRARCLVAPPLWQERGSGRGRA

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

>43461_43461_4_KRIT1-CDK6_KRIT1_chr7_91871347_ENST00000394507_CDK6_chr7_92247521_ENST00000424848_length(amino acids)=120AA_BP=26
MHMLLLFVQRILPVSILGNTELSHMNVIGLPGEEDWPRDVALPRQAFHSKSAQPIEKFVTDIDELGKDLLLKCLTFNPAKRISAYSALSH

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

>43461_43461_5_KRIT1-CDK6_KRIT1_chr7_91871348_ENST00000394503_CDK6_chr7_92247521_ENST00000265734_length(amino acids)=155AA_BP=
MNQNATYTRGSQKLAEKSPASFAPLLPGTRVQLKPLCERPNSTPGFVITVASLNPICSCSKLDSHLKAFRARCLVAPPLWQERGSGRGRA

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

>43461_43461_6_KRIT1-CDK6_KRIT1_chr7_91871348_ENST00000394503_CDK6_chr7_92247521_ENST00000424848_length(amino acids)=120AA_BP=26
MHMLLLFVQRILPVSILGNTELSHMNVIGLPGEEDWPRDVALPRQAFHSKSAQPIEKFVTDIDELGKDLLLKCLTFNPAKRISAYSALSH

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

>43461_43461_7_KRIT1-CDK6_KRIT1_chr7_91871348_ENST00000394507_CDK6_chr7_92247521_ENST00000265734_length(amino acids)=155AA_BP=
MNQNATYTRGSQKLAEKSPASFAPLLPGTRVQLKPLCERPNSTPGFVITVASLNPICSCSKLDSHLKAFRARCLVAPPLWQERGSGRGRA

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

>43461_43461_8_KRIT1-CDK6_KRIT1_chr7_91871348_ENST00000394507_CDK6_chr7_92247521_ENST00000424848_length(amino acids)=120AA_BP=26
MHMLLLFVQRILPVSILGNTELSHMNVIGLPGEEDWPRDVALPRQAFHSKSAQPIEKFVTDIDELGKDLLLKCLTFNPAKRISAYSALSH

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

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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/chr7:91871348/chr7:92247521)
- 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
KRIT1 O00522	CDK6 Q00534
FUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. {ECO:0000250\|UniProtKB:Q6S5J6, ECO:0000269\|PubMed:11741838, ECO:0000269\|PubMed:17916086, ECO:0000269\|PubMed:20332120, ECO:0000269\|PubMed:20616044, ECO:0000269\|PubMed:20668652, ECO:0000269\|PubMed:21633110, ECO:0000269\|PubMed:23317506}.	FUNCTION: Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663). {ECO:0000269\|PubMed:12833137, ECO:0000269\|PubMed:14985467, ECO:0000269\|PubMed:15254224, ECO:0000269\|PubMed:15809340, ECO:0000269\|PubMed:17420273, ECO:0000269\|PubMed:17431401, ECO:0000269\|PubMed:20333249, ECO:0000269\|PubMed:20668294, ECO:0000269\|PubMed:23918663, ECO:0000269\|PubMed:8114739}.

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

- 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

KRIT1

chr7:91871347

chr7:92247521

ENST00000340022

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394503

420_734

34.0

689.0

Domain

FERM

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394505

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394507

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000412043

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000340022

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394503

420_734

34.0

689.0

Domain

FERM

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394505

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394507

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000412043

420_734

34.0

737.0

Domain

FERM

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000340022

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394503

1_170

34.0

689.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394505

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394507

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000412043

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000340022

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394503

1_170

34.0

689.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394505

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394507

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000412043

1_170

34.0

737.0

Region

Note=N-terminal domain similar to Nudix hydrolase domain

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000340022

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000340022

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000340022

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000340022

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394503

287_316

34.0

689.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394503

320_350

34.0

689.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394503

354_383

34.0

689.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394503

388_419

34.0

689.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394505

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394505

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394505

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394505

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394507

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394507

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394507

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000394507

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000412043

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000412043

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000412043

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871347

chr7:92247521

ENST00000412043

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000340022

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000340022

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000340022

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000340022

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394503

287_316

34.0

689.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394503

320_350

34.0

689.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394503

354_383

34.0

689.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394503

388_419

34.0

689.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394505

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394505

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394505

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394505

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394507

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394507

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394507

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000394507

388_419

34.0

737.0

Repeat

ANK 4

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000412043

287_316

34.0

737.0

Repeat

ANK 1

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000412043

320_350

34.0

737.0

Repeat

ANK 2

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000412043

354_383

34.0

737.0

Repeat

ANK 3

Hgene

KRIT1

chr7:91871348

chr7:92247521

ENST00000412043

388_419

34.0

737.0

Repeat

ANK 4

Tgene

CDK6

chr7:91871347

chr7:92247521

ENST00000265734

13_300

232.66666666666666

327.0

Domain

Protein kinase

Tgene

CDK6

chr7:91871347

chr7:92247521

ENST00000424848

13_300

232.66666666666666

327.0

Domain

Protein kinase

Tgene

CDK6

chr7:91871348

chr7:92247521

ENST00000265734

13_300

232.66666666666666

327.0

Domain

Protein kinase

Tgene

CDK6

chr7:91871348

chr7:92247521

ENST00000424848

13_300

232.66666666666666

327.0

Domain

Protein kinase

Tgene

CDK6

chr7:91871347

chr7:92247521

ENST00000265734

19_27

232.66666666666666

327.0

Nucleotide binding

ATP

Tgene

CDK6

chr7:91871347

chr7:92247521

ENST00000424848

19_27

232.66666666666666

327.0

Nucleotide binding

ATP

Tgene

CDK6

chr7:91871348

chr7:92247521

ENST00000265734

19_27

232.66666666666666

327.0

Nucleotide binding

ATP

Tgene

CDK6

chr7:91871348

chr7:92247521

ENST00000424848

19_27

232.66666666666666

327.0

Nucleotide binding

ATP

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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 >>>133_KRIT1_91871348_CDK6_92247521_ranked_0.pdb	KRIT1	91871347	91871348	ENST00000424848	CDK6	chr7	92247521	-	MNQNATYTRGSQKLAEKSPASFAPLLPGTRVQLKPLCERPNSTPGFVITVASLNPICSCSKLDSHLKAFRARCLVAPPLWQERGSGRGRA	155

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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.

KRIT1_pLDDT.png

CDK6_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

CDK6

CDKN2C, CDKN2A, CCND1, CDKN2D, PPP2CA, PPM1B, CDK2, CCND2, CCND3, CDKN1B, CDC37, FBXO7, CDKN1A, UHRF2, CDK5R1, ELAVL1, CCNE1, CCNA2, KIF26B, RB1, CDK7, ATXN1, HIST1H1A, PML, HSP90AA1, FOXM1, ZSCAN1, SYNPO2, DEDD2, SRSF12, ZNF101, SNIP1, ZNF335, PRX, EBF4, EIF4ENIF1, RBM23, BCL11A, TCEB3B, PPHLN1, TRA2A, SENP3, NIPBL, CBY1, SSBP2, SIRT1, POGZ, LPIN1, ANKRD12, TPX2, TRAK1, CASC3, CLASRP, PPARGC1A, MSL3, SORBS1, ABI2, N4BP1, VGLL4, TJP2, SRSF11, ZMYM3, ZNF174, SLBP, ZFP36, MZF1, KLF10, TFDP1, ZEB1, SOX5, SOX10, SRSF1, SRSF2, SRSF7, TRA2B, RBL1, RBL2, NUMA1, NFATC3, MYC, MEF2D, MLLT3, ISL1, HSF1, EZH2, FOXO3, ELK1, ATF6B, DDIT3, CDC6, MCM2, MCM10, UCHL1, CDKN2B, WDR33, CDKL3, CDK6, DMBT1, AMY2A, PIGR, CDK4, DAB1, PSMA3, RTFDC1, HSP90AA5P, UBE2W, CCNT2, CCNT1, RCHY1, EIF2AK1, CDKN1C, NTRK1, RUNX1, CTNNB1, AR, VHL, FGFR3, USP17L2, MCF2L2, PAK4, FKBP5, FAM26E, TRIM25, HHV8GK18_gp82, EGLN2, RBPMS, HEXIM1, LARP7, KIAA1429, GBF1, SUMO1, UBE2I, ARNT, BECN1, AKT1, CD44, EPHA2, FGFR4, LATS2, STK11, FZR1, GLIS2, MAP2K3, MAP2K5, NF2, RAF1, RASSF1, ARAF, CBLC, KEAP1, MAP3K5, TEAD2, TERT, TSC1, ERBB2, GLIS1, GRM1, HGF, HIF1A, KAT2A, KDELR2, MAPK14, MET, PDGFRA, TNFRSF1A, TP53, TRIM28, APOBEC1, CCNI, CCNH, OTP, TRIM15, UBE2N, FASN, ACACA, NUPR1, USP51, ATG7, BSPRY, KLC3, CA4, NEU2, METTL21B, PPM1M, FAM96A, EPB41L5, HSP90AB1, PCNA, MAP1LC3B, CALCOCO2,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
KRIT1
CDK6

- 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
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000340022	-	4	19	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000394503	-	3	17	172_195	34.0	689.0	ITGB1BP1
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000394505	-	4	19	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000394507	-	5	20	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000412043	-	4	19	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000340022	-	4	19	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000394503	-	3	17	172_195	34.0	689.0	ITGB1BP1
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000394505	-	4	19	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000394507	-	5	20	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000412043	-	4	19	172_195	34.0	737.0	ITGB1BP1
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000340022	-	4	19	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000394503	-	3	17	430_452	34.0	689.0	RAP1B
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000394505	-	4	19	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000394507	-	5	20	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871347	chr7:92247521	ENST00000412043	-	4	19	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000340022	-	4	19	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000394503	-	3	17	430_452	34.0	689.0	RAP1B
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000394505	-	4	19	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000394507	-	5	20	430_452	34.0	737.0	RAP1B
Hgene	KRIT1	chr7:91871348	chr7:92247521	ENST00000412043	-	4	19	430_452	34.0	737.0	RAP1B

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Related Drugs to KRIT1-CDK6

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 KRIT1-CDK6

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
Tgene	CDK6	C0004238	Atrial Fibrillation	2	CTD_human
Tgene	CDK6	C0025149	Medulloblastoma	2	CTD_human
Tgene	CDK6	C0205833	Medullomyoblastoma	2	CTD_human
Tgene	CDK6	C0235480	Paroxysmal atrial fibrillation	2	CTD_human
Tgene	CDK6	C0278510	Childhood Medulloblastoma	2	CTD_human
Tgene	CDK6	C0278876	Adult Medulloblastoma	2	CTD_human
Tgene	CDK6	C0751291	Desmoplastic Medulloblastoma	2	CTD_human
Tgene	CDK6	C1275668	Melanotic medulloblastoma	2	CTD_human
Tgene	CDK6	C2585653	Persistent atrial fibrillation	2	CTD_human
Tgene	CDK6	C3468561	familial atrial fibrillation	2	CTD_human
Tgene	CDK6	C0002871	Anemia	1	CTD_human
Tgene	CDK6	C0003873	Rheumatoid Arthritis	1	CTD_human
Tgene	CDK6	C0004403	Autosome Abnormalities	1	CTD_human
Tgene	CDK6	C0008625	Chromosome Aberrations	1	CTD_human
Tgene	CDK6	C0017636	Glioblastoma	1	CTD_human
Tgene	CDK6	C0023452	Childhood Acute Lymphoblastic Leukemia	1	CTD_human
Tgene	CDK6	C0023453	L2 Acute Lymphoblastic Leukemia	1	CTD_human
Tgene	CDK6	C0023467	Leukemia, Myelocytic, Acute	1	CTD_human
Tgene	CDK6	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
Tgene	CDK6	C0026998	Acute Myeloid Leukemia, M1	1	CTD_human
Tgene	CDK6	C0038454	Cerebrovascular accident	1	CTD_human
Tgene	CDK6	C0263454	Chloracne	1	CTD_human
Tgene	CDK6	C0334588	Giant Cell Glioblastoma	1	CTD_human
Tgene	CDK6	C0345967	Malignant mesothelioma	1	CTD_human
Tgene	CDK6	C0677866	Brain Stem Neoplasms	1	CTD_human
Tgene	CDK6	C0751886	Brain Stem Neoplasms, Primary	1	CTD_human
Tgene	CDK6	C0751887	Medullary Neoplasms	1	CTD_human
Tgene	CDK6	C0751888	Mesencephalic Neoplasms	1	CTD_human
Tgene	CDK6	C0751889	Pontine Tumors	1	CTD_human
Tgene	CDK6	C0751956	Acute Cerebrovascular Accidents	1	CTD_human
Tgene	CDK6	C1168401	Squamous cell carcinoma of the head and neck	1	CTD_human
Tgene	CDK6	C1621958	Glioblastoma Multiforme	1	CTD_human
Tgene	CDK6	C1879321	Acute Myeloid Leukemia (AML-M2)	1	CTD_human
Tgene	CDK6	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	1	CTD_human
Tgene	CDK6	C3711387	Autosomal Recessive Primary Microcephaly	1	ORPHANET
Tgene	CDK6	C4015156	MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE	1	CTD_human;GENOMICS_ENGLAND;UNIPROT