Home

Download

Statistics

Examples

Help

Contact

	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:RAB1A-COL1A1 (FusionGDB2 ID:70754)

Fusion Gene Summary for RAB1A-COL1A1

Fusion gene summary

Fusion gene information	Fusion gene name: RAB1A-COL1A1
	Fusion gene ID: 70754
		Hgene	Tgene
	Gene symbol	RAB1A	COL1A1
	Gene ID	5861	1277
	Gene name	RAB1A, member RAS oncogene family	collagen type I alpha 1 chain
	Synonyms	RAB1\|YPT1	CAFYD\|EDSARTH1\|EDSC\|OI1\|OI2\|OI3\|OI4
	Cytomap	2p14	17q21.33
	Type of gene	protein-coding	protein-coding
	Description	ras-related protein Rab-1AGTP binding protein Rab1aRAB1, member RAS oncogene familyRab GTPase YPT1 homologYPT1-related protein	collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro
	Modification date	20200329	20200322
	UniProtAcc	.	P02452
	Ensembl transtripts involved in fusion gene	ENST00000494188, ENST00000409892, ENST00000409784, ENST00000398529, ENST00000409751, ENST00000260638, ENST00000356214,	ENST00000225964,
Fusion gene scores	* DoF score	10 X 11 X 4=440	44 X 105 X 13=60060
	# samples	13	80
	** MAII score	log2(13/440*10)=-1.7589919004962 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(80/60060*10)=-6.23026066466979 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RAB1A [Title/Abstract] AND COL1A1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RAB1A(65318116)-COL1A1(48264078), # samples:1
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
Tgene	COL1A1	GO:0010718	positive regulation of epithelial to mesenchymal transition	20018240
Tgene	COL1A1	GO:0030335	positive regulation of cell migration	20018240
Tgene	COL1A1	GO:0034504	protein localization to nucleus	20018240
Tgene	COL1A1	GO:0045893	positive regulation of transcription, DNA-templated	20018240
Tgene	COL1A1	GO:0090263	positive regulation of canonical Wnt signaling pathway	20018240

Fusion gene breakpoints across RAB1A (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 COL1A1 (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
ChiTaRS5.0	N/A	BF326262	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-

Top

Fusion Gene ORF analysis for RAB1A-COL1A1

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
intron-3CDS	ENST00000494188	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-
intron-3CDS	ENST00000409892	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-
In-frame	ENST00000409784	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-
intron-3CDS	ENST00000398529	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-
In-frame	ENST00000409751	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-
intron-3CDS	ENST00000260638	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-
intron-3CDS	ENST00000356214	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-

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)
ENST00000409784	RAB1A	chr2	65318116	-	ENST00000225964	COL1A1	chr17	48264078	-	3351	479	1006	1692	228
ENST00000409751	RAB1A	chr2	65318116	-	ENST00000225964	COL1A1	chr17	48264078	-	3253	381	908	1594	228

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
ENST00000409784	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-	0.5390911	0.46090892
ENST00000409751	ENST00000225964	RAB1A	chr2	65318116	-	COL1A1	chr17	48264078	-	0.52509123	0.47490877

Top

Fusion Genomic Features for RAB1A-COL1A1

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)

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.

Top

Fusion Protein Features for RAB1A-COL1A1

Go to
FGviewer for the breakpoints of chr2:65318116-chr17:48264078
.
- 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
.	COL1A1 P02452
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: Type I collagen is a member of group I collagen (fibrillar forming collagen).

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

RAB1A

chr2:65318116

chr17:48264078

ENST00000409784

40_48

96.0

206.0

Motif

Effector region

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409784

18_26

96.0

206.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409784

36_43

96.0

206.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409784

66_70

96.0

206.0

Nucleotide binding

GTP

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

1229_1464

1465.0

Domain

Fibrillar collagen NC1

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

38_96

1465.0

Domain

VWFC

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

1093_1095

1465.0

Motif

Cell attachment site

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

745_747

1465.0

Motif

Cell attachment site

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

1193_1218

1465.0

Region

Note=Nonhelical region (C-terminal)

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

162_178

1465.0

Region

Note=Nonhelical region (N-terminal)

Tgene

COL1A1

chr2:65318116

chr17:48264078

ENST00000225964

179_1192

1465.0

Region

Note=Triple-helical region

- 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

RAB1A

chr2:65318116

chr17:48264078

ENST00000398529

40_48

130.0

Motif

Effector region

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409892

40_48

142.0

Motif

Effector region

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000398529

124_127

130.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000398529

154_156

130.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000398529

18_26

130.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000398529

36_43

130.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000398529

66_70

130.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409784

124_127

96.0

206.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409784

154_156

96.0

206.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409892

124_127

142.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409892

154_156

142.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409892

18_26

142.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409892

36_43

142.0

Nucleotide binding

GTP

Hgene

RAB1A

chr2:65318116

chr17:48264078

ENST00000409892

66_70

142.0

Nucleotide binding

GTP

Top

Fusion Gene Sequence for RAB1A-COL1A1

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_ENST00000409784_ENST00000225964_BF326262_RAB1A_chr2_65318116_-_COL1A1_chr17_48264078_length(transcript)=3351nt_BP=479nt
ATTTTGGGTGGAAGCGATAGCTGAGTGGCGGCGGCTGCTGATTGTGTTCTAGGGGACGGAGTAGGGGAAGACGTTTGCTCTCCCGGAACA
GCCTATCTCATTCCTTTCTTTCGATTACCCGTGGCGCGGAGAGTCAGGGCGGCGGCTGCGGCAGCAAGGGCGGCGGTGGCGGCGGCGGCA
GCTGCAGTGACATGTCCAGCATGAATCCCGAATATGATTATTTATTCAAGTTACTTCTGATTGGCGACTCAGGGGTTGGAAAGTCTTGCC
TTCTTCTTAGGTTTGCAGATGATACATATACAGAAAGCTACATCAGCACAATTGGTGTGGATTTCAAAATAAGAACTATAGAGTTAGACG
GGAAAACAATCAAGCTTCAAATATGGGACACAGCAGGCCAGGAAAGATTTCGAACAATCACCTCCAGTTATTACAGAGGAGCCCATGGCA
TCATAGTTGTGTATGATGTGACAGATCAGAGTCACACCGGAGCCTGGGGCAAGACAGTGATTGAATACAAAACCACCAAGACCTCCCGCC
TGCCCATCATCGATGTGGCCCCCTTGGACGTTGGTGCCCCAGACCAGGAATTCGGCTTCGACGTTGGCCCTGTCTGCTTCCTGTAAACTC
CCTCCATCCCAACCTGGCTCCCTCCCACCCAACCAACTTTCCCCCCAACCCGGAAACAGACAAGCAACCCAAACTGAACCCCCTCAAAAG
CCAAAAAATGGGAGACAATTTCACATGGACTTTGGAAAATATTTTTTTCCTTTGCATTCATCTCTCAAACTTAGTTTTTATCTTTGACCA
ACCGAACATGACCAAAAACCAAAAGTGCATTCAACCTTACCAAAAAAAAAAAAAAAAAAAGAATAAATAAATAACTTTTTAAAAAAGGAA
GCTTGGTCCACTTGCTTGAAGACCCATGCGGGGGTAAGTCCCTTTCTGCCCGTTGGGCTTATGAAACCCCAATGCTGCCCTTTCTGCTCC
TTTCTCCACACCCCCCTTGGGGCCTCCCCTCCACTCCTTCCCAAATCTGTCTCCCCAGAAGACACAGGAAACAATGTATTGTCTGCCCAG
CAATCAAAGGCAATGCTCAAACACCCAAGTGGCCCCCACCCTCAGCCCGCTCCTGCCCGCCCAGCACCCCCAGGCCCTGGGGGACCTGGG
GTTCTCAGACTGCCAAAGAAGCCTTGCCATCTGGCGCTCCCATGGCTCTTGCAACATCTCCCCTTCGTTTTTGAGGGGGTCATGCCGGGG
GAGCCACCAGCCCCTCACTGGGTTCGGAGGAGAGTCAGGAAGGGCCACGACAAAGCAGAAACATCGGATTTGGGGAACGCGTGTCAATCC
CTTGTGCCGCAGGGCTGGGCGGGAGAGACTGTTCTGTTCCTTGTGTAACTGTGTTGCTGAAAGACTACCTCGTTCTTGTCTTGATGTGTC
ACCGGGGCAACTGCCTGGGGGCGGGGATGGGGGCAGGGTGGAAGCGGCTCCCCATTTTATACCAAAGGTGCTACATCTATGTGATGGGTG
GGGTGGGGAGGGAATCACTGGTGCTATAGAAATTGAGATGCCCCCCCAGGCCAGCAAATGTTCCTTTTTGTTCAAAGTCTATTTTTATTC
CTTGATATTTTTCTTTTTTTTTTTTTTTTTTTGTGGATGGGGACTTGTGAATTTTTCTAAAGGTGCTATTTAACATGGGAGGAGAGCGTG
TGCGGCTCCAGCCCAGCCCGCTGCTCACTTTCCACCCTCTCTCCACCTGCCTCTGGCTTCTCAGGCCTCTGCTCTCCGACCTCTCTCCTC
TGAAACCCTCCTCCACAGCTGCAGCCCATCCTCCCGGCTCCCTCCTAGTCTGTCCTGCGTCCTCTGTCCCCGGGTTTCAGAGACAACTTC
CCAAAGCACAAAGCAGTTTTTCCCCCTAGGGGTGGGAGGAAGCAAAAGACTCTGTACCTATTTTGTATGTGTATAATAATTTGAGATGTT
TTTAATTATTTTGATTGCTGGAATAAAGCATGTGGAAATGACCCAAACATAATCCGCAGTGGCCTCCTAATTTCCTTCTTTGGAGTTGGG
GGAGGGGTAGACATGGGGAAGGGGCTTTGGGGTGATGGGCTTGCCTTCCATTCCTGCCCTTTCCCTCCCCACTATTCTCTTCTAGATCCC
TCCATAACCCCACTCCCCTTTCTCTCACCCTTCTTATACCGCAAACCTTTCTACTTCCTCTTTCATTTTCTATTCTTGCAATTTCCTTGC
ACCTTTTCCAAATCCTCTTCTCCCCTGCAATACCATACAGGCAATCCACGTGCACAACACACACACACACTCTTCACATCTGGGGTTGTC
CAAACCTCATACCCACTCCCCTTCAAGCCCATCCACTCTCCACCCCCTGGATGCCCTGCACTTGGTGGCGGTGGGATGCTCATGGATACT
GGGAGGGTGAGGGGAGTGGAACCCGTGAGGAGGACCTGGGGGCCTCTCCTTGAACTGACATGAAGGGTCATCTGGCCTCTGCTCCCTTCT
CACCCACGCTGACCTCCTGCCGAAGGAGCAACGCAACAGGAGAGGGGTCTGCTGAGCCTGGCGAGGGTCTGGGAGGGACCAGGAGGAAGG
CGTGCTCCCTGCTCGCTGTCCTGGCCCTGGGGGAGTGAGGGAGACAGACACCTGGGAGAGCTGTGGGGAAGGCACTCGCACCGTGCTCTT
GGGAAGGAAGGAGACCTGGCCCTGCTCACCACGGACTGGGTGCCTCGACCTCCTGAATCCCCAGAACACAACCCCCCTGGGCTGGGGTGG
TCTGGGGAACCATCGTGCCCCCGCCTCCCGCCTACTCCTTTTTAAGCTTTTCGAGTATGGCGGCCAGGGCTCCGACCCTGCCGATGTGGC
CATCCAGCTGACCTTCCTGCGCCTGATGTCCACCGAGGCCTCCCAGAACATCACCTACCACTGCAAGAACAGCGTGGCCTACATGGACCA
GCAGACTGGCAACCTCAAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAG
CGTCACTGTCGATGGCTGCACGGAGAGTACTGGATTGACCCCAACCAAGGCTGCAACCTGGATGCCATCAAAGTCTTCTGCAACATGGAG
ACTGGTGAGACCTGCGTGTACCCCACTCAGCCCAGTGTGGCCCAGAAGAACTGGTACATCAGCAAGAACCCCAAGGACAAGAGGCATGTC
TGGTTCGGCGAGAGCATGACCGATGGATTCCAGGGAGCCCAGAGGGCAGCCGCAAGAACCCCGCCCGCACCTGCCGTGACCTCAAGATGT

>In-frame_ENST00000409784_ENST00000225964_BF326262_RAB1A_chr2_65318116_-_COL1A1_chr17_48264078_length(amino acids)=228AA_start in transcript=1006_stop in transcript=1692
MGPPLHSFPNLSPQKTQETMYCLPSNQRQCSNTQVAPTLSPLLPAQHPQALGDLGFSDCQRSLAIWRSHGSCNISPSFLRGSCRGSHQPL
TGFGGESGRATTKQKHRIWGTRVNPLCRRAGRERLFCSLCNCVAERLPRSCLDVSPGQLPGGGDGGRVEAAPHFIPKVLHLCDGWGGEGI

--------------------------------------------------------------
>In-frame_ENST00000409751_ENST00000225964_BF326262_RAB1A_chr2_65318116_-_COL1A1_chr17_48264078_length(transcript)=3253nt_BP=381nt
TTTGGGTGGAAGCGATAGCTGAGTGGCGGCGGCTGCTGATTGTGTTCTAGGGGACGGAGTAGGGGAAGACGTTTGCTCTCCCGGAACAGC
CTATCTCATTCCTTTCTTTCGATTACCCGTGGCGCGGAGAGTCAGGGCGGCGGCTGCGGCAGCAAGGGCGGCGGTGGCGGCGGCGGCAGC
TGCAGTGACATGTCCAGCATGAATCCCGAATATGATTATTTATTCAAGTTACTTCTGATTGGCGACTCAGGGGTTGGAAAGTCTTGCCTT
CTTCTTAGGTTTGCATGGGACACAGCAGGCCAGGAAAGATTTCGAACAATCACCTCCAGTTATTACAGAGGAGCCCATGGCATCATAGTT
GTGTATGATGTGACAGATCAGAGTCACACCGGAGCCTGGGGCAAGACAGTGATTGAATACAAAACCACCAAGACCTCCCGCCTGCCCATC
ATCGATGTGGCCCCCTTGGACGTTGGTGCCCCAGACCAGGAATTCGGCTTCGACGTTGGCCCTGTCTGCTTCCTGTAAACTCCCTCCATC
CCAACCTGGCTCCCTCCCACCCAACCAACTTTCCCCCCAACCCGGAAACAGACAAGCAACCCAAACTGAACCCCCTCAAAAGCCAAAAAA
TGGGAGACAATTTCACATGGACTTTGGAAAATATTTTTTTCCTTTGCATTCATCTCTCAAACTTAGTTTTTATCTTTGACCAACCGAACA
TGACCAAAAACCAAAAGTGCATTCAACCTTACCAAAAAAAAAAAAAAAAAAAGAATAAATAAATAACTTTTTAAAAAAGGAAGCTTGGTC
CACTTGCTTGAAGACCCATGCGGGGGTAAGTCCCTTTCTGCCCGTTGGGCTTATGAAACCCCAATGCTGCCCTTTCTGCTCCTTTCTCCA
CACCCCCCTTGGGGCCTCCCCTCCACTCCTTCCCAAATCTGTCTCCCCAGAAGACACAGGAAACAATGTATTGTCTGCCCAGCAATCAAA
GGCAATGCTCAAACACCCAAGTGGCCCCCACCCTCAGCCCGCTCCTGCCCGCCCAGCACCCCCAGGCCCTGGGGGACCTGGGGTTCTCAG
ACTGCCAAAGAAGCCTTGCCATCTGGCGCTCCCATGGCTCTTGCAACATCTCCCCTTCGTTTTTGAGGGGGTCATGCCGGGGGAGCCACC
AGCCCCTCACTGGGTTCGGAGGAGAGTCAGGAAGGGCCACGACAAAGCAGAAACATCGGATTTGGGGAACGCGTGTCAATCCCTTGTGCC
GCAGGGCTGGGCGGGAGAGACTGTTCTGTTCCTTGTGTAACTGTGTTGCTGAAAGACTACCTCGTTCTTGTCTTGATGTGTCACCGGGGC
AACTGCCTGGGGGCGGGGATGGGGGCAGGGTGGAAGCGGCTCCCCATTTTATACCAAAGGTGCTACATCTATGTGATGGGTGGGGTGGGG
AGGGAATCACTGGTGCTATAGAAATTGAGATGCCCCCCCAGGCCAGCAAATGTTCCTTTTTGTTCAAAGTCTATTTTTATTCCTTGATAT
TTTTCTTTTTTTTTTTTTTTTTTTGTGGATGGGGACTTGTGAATTTTTCTAAAGGTGCTATTTAACATGGGAGGAGAGCGTGTGCGGCTC
CAGCCCAGCCCGCTGCTCACTTTCCACCCTCTCTCCACCTGCCTCTGGCTTCTCAGGCCTCTGCTCTCCGACCTCTCTCCTCTGAAACCC
TCCTCCACAGCTGCAGCCCATCCTCCCGGCTCCCTCCTAGTCTGTCCTGCGTCCTCTGTCCCCGGGTTTCAGAGACAACTTCCCAAAGCA
CAAAGCAGTTTTTCCCCCTAGGGGTGGGAGGAAGCAAAAGACTCTGTACCTATTTTGTATGTGTATAATAATTTGAGATGTTTTTAATTA
TTTTGATTGCTGGAATAAAGCATGTGGAAATGACCCAAACATAATCCGCAGTGGCCTCCTAATTTCCTTCTTTGGAGTTGGGGGAGGGGT
AGACATGGGGAAGGGGCTTTGGGGTGATGGGCTTGCCTTCCATTCCTGCCCTTTCCCTCCCCACTATTCTCTTCTAGATCCCTCCATAAC
CCCACTCCCCTTTCTCTCACCCTTCTTATACCGCAAACCTTTCTACTTCCTCTTTCATTTTCTATTCTTGCAATTTCCTTGCACCTTTTC
CAAATCCTCTTCTCCCCTGCAATACCATACAGGCAATCCACGTGCACAACACACACACACACTCTTCACATCTGGGGTTGTCCAAACCTC
ATACCCACTCCCCTTCAAGCCCATCCACTCTCCACCCCCTGGATGCCCTGCACTTGGTGGCGGTGGGATGCTCATGGATACTGGGAGGGT
GAGGGGAGTGGAACCCGTGAGGAGGACCTGGGGGCCTCTCCTTGAACTGACATGAAGGGTCATCTGGCCTCTGCTCCCTTCTCACCCACG
CTGACCTCCTGCCGAAGGAGCAACGCAACAGGAGAGGGGTCTGCTGAGCCTGGCGAGGGTCTGGGAGGGACCAGGAGGAAGGCGTGCTCC
CTGCTCGCTGTCCTGGCCCTGGGGGAGTGAGGGAGACAGACACCTGGGAGAGCTGTGGGGAAGGCACTCGCACCGTGCTCTTGGGAAGGA
AGGAGACCTGGCCCTGCTCACCACGGACTGGGTGCCTCGACCTCCTGAATCCCCAGAACACAACCCCCCTGGGCTGGGGTGGTCTGGGGA
ACCATCGTGCCCCCGCCTCCCGCCTACTCCTTTTTAAGCTTTTCGAGTATGGCGGCCAGGGCTCCGACCCTGCCGATGTGGCCATCCAGC
TGACCTTCCTGCGCCTGATGTCCACCGAGGCCTCCCAGAACATCACCTACCACTGCAAGAACAGCGTGGCCTACATGGACCAGCAGACTG
GCAACCTCAAGAAGGCCCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTG
TCGATGGCTGCACGGAGAGTACTGGATTGACCCCAACCAAGGCTGCAACCTGGATGCCATCAAAGTCTTCTGCAACATGGAGACTGGTGA
GACCTGCGTGTACCCCACTCAGCCCAGTGTGGCCCAGAAGAACTGGTACATCAGCAAGAACCCCAAGGACAAGAGGCATGTCTGGTTCGG
CGAGAGCATGACCGATGGATTCCAGGGAGCCCAGAGGGCAGCCGCAAGAACCCCGCCCGCACCTGCCGTGACCTCAAGATGTGCCACTCT

>In-frame_ENST00000409751_ENST00000225964_BF326262_RAB1A_chr2_65318116_-_COL1A1_chr17_48264078_length(amino acids)=228AA_start in transcript=908_stop in transcript=1594
MGPPLHSFPNLSPQKTQETMYCLPSNQRQCSNTQVAPTLSPLLPAQHPQALGDLGFSDCQRSLAIWRSHGSCNISPSFLRGSCRGSHQPL
TGFGGESGRATTKQKHRIWGTRVNPLCRRAGRERLFCSLCNCVAERLPRSCLDVSPGQLPGGGDGGRVEAAPHFIPKVLHLCDGWGGEGI

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

Top

Fusion Gene PPI Analysis for RAB1A-COL1A1

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

Top

Related Drugs for RAB1A-COL1A1

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
Tgene	COL1A1	P02452	DB00048	Collagenase clostridium histolyticum	Binder	Biotech	Approved\|Investigational
Tgene	COL1A1	P02452	DB12872	Vonicog Alfa	Binder	Biotech	Approved\|Investigational
Tgene	COL1A1	P02452	DB13133	Von Willebrand Factor Human	Binder	Biotech	Approved\|Investigational
Tgene	COL1A1	P02452	DB11338	Clove oil		Biotech	Approved\|Nutraceutical
Tgene	COL1A1	P02452	DB04866	Halofuginone		Small molecule	Investigational\|Vet_approved

Top

Related Diseases for RAB1A-COL1A1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	COL1A1	C0268358	Osteogenesis imperfecta, dominant perinatal lethal	38	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0268362	Osteogenesis imperfecta type III (disorder)	17	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0023931	Lobstein Disease	15	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0268363	Osteogenesis imperfecta type IV (disorder)	12	GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0023890	Liver Cirrhosis	4	CTD_human
Tgene	COL1A1	C0239946	Fibrosis, Liver	4	CTD_human
Tgene	COL1A1	C4551623	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	4	CTD_human;GENOMICS_ENGLAND
Tgene	COL1A1	C4552122	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	4	GENOMICS_ENGLAND;UNIPROT
Tgene	COL1A1	C0020497	Cortical Congenital Hyperostosis	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	COL1A1	C0023893	Liver Cirrhosis, Experimental	3	CTD_human
Tgene	COL1A1	C0268345	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	2	ORPHANET
Tgene	COL1A1	C0000786	Spontaneous abortion	1	CTD_human
Tgene	COL1A1	C0000822	Abortion, Tubal	1	CTD_human
Tgene	COL1A1	C0002949	Aneurysm, Dissecting	1	CTD_human
Tgene	COL1A1	C0003504	Aortic Valve Insufficiency	1	CTD_human
Tgene	COL1A1	C0004364	Autoimmune Diseases	1	CTD_human
Tgene	COL1A1	C0005398	Cholestasis, Extrahepatic	1	CTD_human
Tgene	COL1A1	C0005779	Blood Coagulation Disorders	1	GENOMICS_ENGLAND
Tgene	COL1A1	C0006663	Calcinosis	1	CTD_human
Tgene	COL1A1	C0008311	Cholangitis	1	CTD_human
Tgene	COL1A1	C0013720	Ehlers-Danlos Syndrome	1	GENOMICS_ENGLAND
Tgene	COL1A1	C0016059	Fibrosis	1	CTD_human
Tgene	COL1A1	C0018824	Heart valve disease	1	CTD_human
Tgene	COL1A1	C0020538	Hypertensive disease	1	CTD_human
Tgene	COL1A1	C0022548	Keloid	1	CTD_human
Tgene	COL1A1	C0027719	Nephrosclerosis	1	CTD_human
Tgene	COL1A1	C0027726	Nephrotic Syndrome	1	CTD_human
Tgene	COL1A1	C0029172	Oral Submucous Fibrosis	1	CTD_human
Tgene	COL1A1	C0029434	Osteogenesis Imperfecta	1	CTD_human;GENOMICS_ENGLAND
Tgene	COL1A1	C0149721	Left Ventricular Hypertrophy	1	CTD_human
Tgene	COL1A1	C0220679	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	1	ORPHANET
Tgene	COL1A1	C0263628	Tumoral calcinosis	1	CTD_human
Tgene	COL1A1	C0340643	Dissection of aorta	1	CTD_human
Tgene	COL1A1	C0521174	Microcalcification	1	CTD_human
Tgene	COL1A1	C1458140	Bleeding tendency	1	GENOMICS_ENGLAND
Tgene	COL1A1	C1619692	Nephrogenic Fibrosing Dermopathy	1	CTD_human
Tgene	COL1A1	C1623038	Cirrhosis	1	CTD_human
Tgene	COL1A1	C1846545	Autoimmune Lymphoproliferative Syndrome Type 2B	1	GENOMICS_ENGLAND
Tgene	COL1A1	C3830362	Early Pregnancy Loss	1	CTD_human
Tgene	COL1A1	C4277533	Dissection, Blood Vessel	1	CTD_human
Tgene	COL1A1	C4552766	Miscarriage	1	CTD_human