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:POR-FTL (FusionGDB2 ID:66771)

Fusion Gene Summary for POR-FTL

Fusion gene summary

Fusion gene information	Fusion gene name: POR-FTL
	Fusion gene ID: 66771
		Hgene	Tgene
	Gene symbol	POR	FTL
	Gene ID	7417	2512
	Gene name	voltage dependent anion channel 2	ferritin light chain
	Synonyms	POR	LFTD\|NBIA3
	Cytomap	10q22.2	19q13.33
	Type of gene	protein-coding	protein-coding
	Description	voltage-dependent anion-selective channel protein 2epididymis secretory sperm binding proteinouter mitochondrial membrane protein porin 2	ferritin light chainepididymis secretory sperm binding proteinferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptide
	Modification date	20200313	20200329
	UniProtAcc	.	P02792
	Ensembl transtripts involved in fusion gene	ENST00000461988, ENST00000419840, ENST00000394893, ENST00000475509, ENST00000545601, ENST00000450476, ENST00000439269,	ENST00000331825,
Fusion gene scores	* DoF score	7 X 6 X 7=294	25 X 21 X 8=4200
	# samples	8	28
	** MAII score	log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(28/4200*10)=-3.90689059560852 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: POR [Title/Abstract] AND FTL [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	POR(75615004)-FTL(49469090), # samples:1
Anticipated loss of major functional domain due to fusion event.	POR-FTL seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
Hgene	POR	GO:0006820	anion transport	8420959

Fusion gene breakpoints across POR (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 FTL (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	COAD	TCGA-AA-A03F-01A	POR	chr7	75615004	+	FTL	chr19	49469090	+

Top

Fusion Gene ORF analysis for POR-FTL

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
Frame-shift	ENST00000461988	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+
In-frame	ENST00000419840	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+
Frame-shift	ENST00000394893	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+
intron-3CDS	ENST00000475509	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+
Frame-shift	ENST00000545601	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+
Frame-shift	ENST00000450476	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+
Frame-shift	ENST00000439269	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+

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)

ENST00000419840

POR

chr7

75615004

ENST00000331825

FTL

chr19

49469090

2012

1507

1542

486

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
ENST00000419840	ENST00000331825	POR	chr7	75615004	+	FTL	chr19	49469090	+	0.012838076	0.98716193

Top

Fusion Genomic Features for POR-FTL

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 POR-FTL

Go to
FGviewer for the breakpoints of chr7:75615004-chr19:49469090
.
- 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
.	FTL P02792
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: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250, ECO:0000269\|PubMed:19923220, ECO:0000269\|PubMed:20159981}.

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

FTL

chr7:75615004

chr19:49469090

ENST00000331825

7_156

176.0

Domain

Ferritin-like diiron

Tgene

FTL

chr7:75615004

chr19:49469090

ENST00000331825

54_61

176.0

Region

Note=Catalytic site for iron oxidation

- 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

POR

chr7:75615004

chr19:49469090

ENST00000394893

279_521

634.0

Domain

FAD-binding FR-type

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

80_224

634.0

Domain

Flavodoxin-like

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

279_521

681.0

Domain

FAD-binding FR-type

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

80_224

681.0

Domain

Flavodoxin-like

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

138_141

634.0

Nucleotide binding

FMN

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

173_182

634.0

Nucleotide binding

FMN

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

472_474

634.0

Nucleotide binding

FAD

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

488_491

634.0

Nucleotide binding

FAD

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

596_597

634.0

Nucleotide binding

NADP

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

602_606

634.0

Nucleotide binding

NADP

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

86_91

634.0

Nucleotide binding

FMN

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

138_141

681.0

Nucleotide binding

FMN

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

173_182

681.0

Nucleotide binding

FMN

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

472_474

681.0

Nucleotide binding

FAD

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

488_491

681.0

Nucleotide binding

FAD

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

596_597

681.0

Nucleotide binding

NADP

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

602_606

681.0

Nucleotide binding

NADP

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

86_91

681.0

Nucleotide binding

FMN

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

2_21

634.0

Topological domain

Lumenal

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

43_677

634.0

Topological domain

Cytoplasmic

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

2_21

681.0

Topological domain

Lumenal

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

43_677

681.0

Topological domain

Cytoplasmic

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000394893

22_42

634.0

Transmembrane

Helical

Hgene

POR

chr7:75615004

chr19:49469090

ENST00000461988

22_42

681.0

Transmembrane

Helical

Top

Fusion Gene Sequence for POR-FTL

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_ENST00000419840_ENST00000331825_TCGA-AA-A03F-01A_POR_chr7_75615004_+_FTL_chr19_49469090_length(transcript)=2012nt_BP=1507nt
GAAGGCGGTGGTAGCGCCTCAGTGGTGTGGGCCTGAGCCCTGCCCAGGTGCCCGCAGAGAGCAGCCGGGCTGCCAGCGTTTCATGATCAA
CATGGGAGACTCCCACGTGGACACCAGCTCCACCGTGTCCGAGGCGGTGGCCGAAGAAGTATCTCTTTTCAGCATGACGGACATGATTCT
GTTTTCGCTCATCGTGGGTCTCCTAACCTACTGGTTCCTCTTCAGAAAGAAAAAAGAAGAAGTCCCCGAGTTCACCAAAATTCAGACATT
GACCTCCTCTGTCAGAGAGAGCAGCTTTGTGGAAAAGATGAAGAAAACGGGGAGGAACATCATCGTGTTCTACGGCTCCCAGACGGGGAC
TGCAGAGGAGTTTGCCAACCGCCTGTCCAAGGACGCCCACCGCTACGGGATGCGAGGCATGTCAGCGGACCCTGAGGAGTATGACCTGGC
CGACCTGAGCAGCCTGCCAGAGATCGACAACGCCCTGGTGGTTTTCTGCATGGCCACCTACGGTGAGGGAGACCCCACCGACAATGCCCA
GGACTTCTACGACTGGCTGCAGGAGACAGACGTGGATCTCTCTGGGGTCAAGTTCGCGGTGTTTGGTCTTGGGAACAAGACCTACGAGCA
CTTCAATGCCATGGGCAAGTACGTGGACAAGCGGCTGGAGCAGCTCGGCGCCCAGCGCATCTTTGAGCTGGGGTTGGGCGACGACGATGG
GAACTTGGAGGAGGACTTCATCACCTGGCGAGAGCAGTTCTGGCCGGCCGTGTGTGAACACTTTGGGGTGGAAGCCACTGGCGAGGAGTC
CAGCATTCGCCAGTACGAGCTTGTGGTCCACACCGACATAGATGCGGCCAAGGTGTACATGGGGGAGATGGGCCGGCTGAAGAGCTACGA
GAACCAGAAGCCCCCCTTTGATGCCAAGAATCCGTTCCTGGCTGCAGTCACCACCAACCGGAAGCTGAACCAGGGAACCGAGCGCCACCT
CATGCACCTGGAATTGGACATCTCGGACTCCAAAATCAGGTATGAATCTGGGGACCACGTGGCTGTGTACCCAGCCAACGACTCTGCTCT
CGTCAACCAGCTGGGCAAAATCCTGGGTGCCGACCTGGACGTCGTCATGTCCCTGAACAACCTGGATGAGGAGTCCAACAAGAAGCACCC
ATTCCCGTGCCCTACGTCCTACCGCACGGCCCTCACCTACTACCTGGACATCACCAACCCGCCGCGTACCAACGTGCTGTACGAGCTGGC
GCAGTACGCCTCGGAGCCCTCGGAGCAGGAGCTGCTGCGCAAGATGGCCTCCTCCTCCGGCGAGGGCAAGGAGCTGTACCTGAGCTGGGT
GGTGGAGGCCCGGAGGCACATCCTGGCCATCCTGCAGGACTGCCCGTCCCTGCGGCCCCCCATCGACCACCTGTGTGAGCTGCTGCCGCG
CCTGCAGGCCCGCTACTACTCCATCGCCTCATCCTCCAAGGCCGGGGAGAACGGCGGCCGTGCGCTGCCGAGGAGAAGCGCGAGGGCTAC
GAGCGTCTCCTGAAGATGCAAAACCAGCGTGGCGGCCGCGCTCTCTTCCAGGACATCAAGAAGCCAGCTGAAGATGAGTGGGGTAAAACC
CCAGACGCCATGAAAGCTGCCATGGCCCTGGAGAAAAAGCTGAACCAGGCCCTTTTGGATCTTCATGCCCTGGGTTCTGCCCGCACGGAC
CCCCATCTCTGTGACTTCCTGGAGACTCACTTCCTAGATGAGGAAGTGAAGCTTATCAAGAAGATGGGTGACCACCTGACCAACCTCCAC
AGGCTGGGTGGCCCGGAGGCTGGGCTGGGCGAGTATCTCTTCGAAAGGCTCACTCTCAAGCACGACTAAGAGCCTTCTGAGCCCAGCGAC
TTCTGAAGGGCCCCTTGCAAAGTAATAGGGCTTCTGCCTAAGCCTCTCCCTCCAGCCAATAGGCAGCTTTCTTAACTATCCTAACAAGCC

>In-frame_ENST00000419840_ENST00000331825_TCGA-AA-A03F-01A_POR_chr7_75615004_+_FTL_chr19_49469090_length(amino acids)=486AA_start in transcript=82_stop in transcript=1542
MINMGDSHVDTSSTVSEAVAEEVSLFSMTDMILFSLIVGLLTYWFLFRKKKEEVPEFTKIQTLTSSVRESSFVEKMKKTGRNIIVFYGSQ
TGTAEEFANRLSKDAHRYGMRGMSADPEEYDLADLSSLPEIDNALVVFCMATYGEGDPTDNAQDFYDWLQETDVDLSGVKFAVFGLGNKT
YEHFNAMGKYVDKRLEQLGAQRIFELGLGDDDGNLEEDFITWREQFWPAVCEHFGVEATGEESSIRQYELVVHTDIDAAKVYMGEMGRLK
SYENQKPPFDAKNPFLAAVTTNRKLNQGTERHLMHLELDISDSKIRYESGDHVAVYPANDSALVNQLGKILGADLDVVMSLNNLDEESNK
KHPFPCPTSYRTALTYYLDITNPPRTNVLYELAQYASEPSEQELLRKMASSSGEGKELYLSWVVEARRHILAILQDCPSLRPPIDHLCEL

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

Top

Fusion Gene PPI Analysis for POR-FTL

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 POR-FTL

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	FTL	P02792	DB09517	Sodium ferric gluconate complex	Binding	Small molecule	Approved
Tgene	FTL	P02792	DB13995	Ferric pyrophosphate citrate	Binder	Small molecule	Approved\|Investigational
Tgene	FTL	P02792	DB00893	Iron Dextran	Other	Small molecule	Approved\|Vet_approved

Top

Related Diseases for POR-FTL

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	POR	C1860042	Antley-Bixler Syndrome with Disordered Steroidogenesis	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	POR	C3150099	ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
Hgene	POR	C2350233	Antley-Bixler Syndrome Phenotype	4	CTD_human
Hgene	POR	C2936791	Antley-Bixler Syndrome, Autosomal Dominant	4	CTD_human
Hgene	POR	C0001627	Congenital adrenal hyperplasia	1	CTD_human
Hgene	POR	C0002453	Amenorrhea	1	CTD_human
Hgene	POR	C0005684	Malignant neoplasm of urinary bladder	1	CTD_human
Hgene	POR	C0005695	Bladder Neoplasm	1	CTD_human
Hgene	POR	C0007621	Neoplastic Cell Transformation	1	CTD_human
Hgene	POR	C0023186	Learning Disorders	1	CTD_human
Hgene	POR	C0032796	Postpartum Amenorrhea	1	CTD_human
Hgene	POR	C0206726	gliosarcoma	1	CTD_human
Hgene	POR	C0751262	Adult Learning Disorders	1	CTD_human
Hgene	POR	C0751263	Learning Disturbance	1	CTD_human
Hgene	POR	C0751265	Learning Disabilities	1	CTD_human
Hgene	POR	C1330966	Developmental Academic Disorder	1	CTD_human
Tgene	FTL	C1833213	Hyperferritinemia, hereditary, with congenital cataracts	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	FTL	C1853578	Neuroferritinopathy	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	FTL	C3810090	L-FERRITIN DEFICIENCY	2	CTD_human;GENOMICS_ENGLAND;ORPHANET
Tgene	FTL	C0011573	Endogenous depression	1	CTD_human
Tgene	FTL	C0011581	Depressive disorder	1	CTD_human
Tgene	FTL	C0012715	Iron Metabolism Disorders	1	CTD_human
Tgene	FTL	C0022548	Keloid	1	CTD_human
Tgene	FTL	C0025193	Melancholia	1	CTD_human
Tgene	FTL	C0026650	Movement Disorders	1	GENOMICS_ENGLAND
Tgene	FTL	C0027626	Neoplasm Invasiveness	1	CTD_human
Tgene	FTL	C0027627	Neoplasm Metastasis	1	CTD_human
Tgene	FTL	C0028754	Obesity	1	CTD_human
Tgene	FTL	C0029408	Degenerative polyarthritis	1	CTD_human
Tgene	FTL	C0033975	Psychotic Disorders	1	PSYGENET
Tgene	FTL	C0041696	Unipolar Depression	1	CTD_human
Tgene	FTL	C0086133	Depressive Syndrome	1	CTD_human
Tgene	FTL	C0086743	Osteoarthrosis Deformans	1	CTD_human
Tgene	FTL	C0282126	Depression, Neurotic	1	CTD_human
Tgene	FTL	C0349204	Nonorganic psychosis	1	PSYGENET
Tgene	FTL	C0751870	Heredodegenerative Disorders, Nervous System	1	CTD_human
Tgene	FTL	C4707880	Genetic hyperferritinemia without iron overload	1	ORPHANET