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:INADL-SNRNP48 (FusionGDB2 ID:39551)

Fusion Gene Summary for INADL-SNRNP48

Fusion gene summary

Fusion gene information	Fusion gene name: INADL-SNRNP48
	Fusion gene ID: 39551
		Hgene	Tgene
	Gene symbol	INADL	SNRNP48
	Gene ID	10207	154007
	Gene name	PATJ crumbs cell polarity complex component	small nuclear ribonucleoprotein U11/U12 subunit 48
	Synonyms	Cipp\|INADL\|InaD-like\|hINADL	C6orf151\|dJ336K20B.1\|dJ512B11.2
	Cytomap	1p31.3	6p24.3
	Type of gene	protein-coding	protein-coding
	Description	inaD-like proteinPALS1-associated tight junction proteinPDZ domain proteinchannel-interacting PDZ domain proteinchannel-interacting PDZ domain-containing proteininactivation no after-potential D-like proteininactivation-no-afterpotential D-likeprot	U11/U12 small nuclear ribonucleoprotein 48 kDa proteinU11-48KU11/U12 snRNP 48 kDa proteinU11/U12 snRNP 48KU11/U12-48Ksmall nuclear ribonucleoprotein 48kDa (U11/U12)small nuclear ribonucleoprotein, U11/U12 48KDa subunit
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000316485, ENST00000371158, ENST00000543708, ENST00000545929, ENST00000472512,	ENST00000342415,
Fusion gene scores	* DoF score	15 X 12 X 10=1800	1 X 1 X 1=1
	# samples	18	1
	** MAII score	log2(18/1800*10)=-3.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(1/1*10)=3.32192809488736
Context	PubMed: INADL [Title/Abstract] AND SNRNP48 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	INADL(62579918)-SNRNP48(7601568), # samples:1
Anticipated loss of major functional domain due to fusion event.	INADL-SNRNP48 seems lost the major protein functional domain in Tgene 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

Fusion gene breakpoints across INADL (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 SNRNP48 (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	Non-Cancer	135N	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+

Top

Fusion Gene ORF analysis for INADL-SNRNP48

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	ENST00000316485	ENST00000342415	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+
Frame-shift	ENST00000371158	ENST00000342415	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+
Frame-shift	ENST00000543708	ENST00000342415	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+
In-frame	ENST00000545929	ENST00000342415	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+
intron-3CDS	ENST00000472512	ENST00000342415	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+

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)

ENST00000545929

INADL

chr1

62579918

ENST00000342415

SNRNP48

chr6

7601568

4473

765

752

1378

208

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
ENST00000545929	ENST00000342415	INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+	0.002383746	0.9976163

Top

Fusion Genomic Features for INADL-SNRNP48

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)
INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+	8.52E-07	0.99999917
INADL	chr1	62579918	+	SNRNP48	chr6	7601568	+	8.52E-07	0.99999917

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 INADL-SNRNP48

Go to
FGviewer for the breakpoints of chr1:62579918-chr6:7601568
.
- 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

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

1068_1160

1583.0

Domain

PDZ 6

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

1239_1322

1583.0

Domain

PDZ 7

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

134_221

1583.0

Domain

PDZ 1

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

1437_1520

1583.0

Domain

PDZ 8

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

1533_1615

1583.0

Domain

PDZ 9

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

1676_1762

1583.0

Domain

PDZ 10

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

1_65

1583.0

Domain

L27

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

248_328

1583.0

Domain

PDZ 2

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

365_453

1583.0

Domain

PDZ 3

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

553_639

1583.0

Domain

PDZ 4

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000316485

686_772

1583.0

Domain

PDZ 5

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

1068_1160

1551.6666666666667

1802.0

Domain

PDZ 6

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

1239_1322

1551.6666666666667

1802.0

Domain

PDZ 7

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

134_221

1551.6666666666667

1802.0

Domain

PDZ 1

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

1437_1520

1551.6666666666667

1802.0

Domain

PDZ 8

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

1_65

1551.6666666666667

1802.0

Domain

L27

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

248_328

1551.6666666666667

1802.0

Domain

PDZ 2

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

365_453

1551.6666666666667

1802.0

Domain

PDZ 3

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

553_639

1551.6666666666667

1802.0

Domain

PDZ 4

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

686_772

1551.6666666666667

1802.0

Domain

PDZ 5

Tgene

SNRNP48

chr1:62579918

chr6:7601568

ENST00000342415

294_335

135.33333333333334

340.0

Compositional bias

Note=Arg-rich

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

1533_1615

1551.6666666666667

1802.0

Domain

PDZ 9

Hgene

INADL

chr1:62579918

chr6:7601568

ENST00000371158

1676_1762

1551.6666666666667

1802.0

Domain

PDZ 10

Tgene

SNRNP48

chr1:62579918

chr6:7601568

ENST00000342415

55_82

135.33333333333334

340.0

Zinc finger

CHHC U11-48K-type

Top

Fusion Gene Sequence for INADL-SNRNP48

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_ENST00000545929_ENST00000342415_135N_INADL_chr1_62579918_+_SNRNP48_chr6_7601568_length(transcript)=4473nt_BP=765nt
GCACACAGCCTGATGGTTTCCTAAGCAGGTATGCAGAGAGAAGTTCCACGCTATCAGTCACTAAAGGAACCAGAAAAAATCAGACAAAGA
TATGCAGATCTGCCTGGAGAACTGCACATTATTGAACTTGAAAAAGATAAGAATGGACTTGGACTCAGCCTTGCTGGTAATAAAGACCGA
TCACGCATGAGCATATTTGTGGTGGGAATTAACCCGGAAGGACCTGCTGCCGCAGATGGACGAATGCGTATTGGAGATGAACTCTTAGAG
AAACGAGGATGCAGTCAATCAGATGGCCGTTACTCCCTTTCCAGTGCCATCAAGTTCTCCATCTTCTATTGAGGATCAGAGCGGCACCGA
ACCTATTAGTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAATTGCCTGAAAGTGAAAGCTTCAAACTGGCTGTCAGCCAGAT
GAAACAGCAAAAATATCCAACAAAAGTCTCCTTCAGTTCACAAGAGATACCATTAGCACCAGCTTCATCATACCATTCAACAGATGCAGA
CTTCACAGGCTATGGTGGTTTCCAGGCTCCTCTGTCAGTGGACCCCGCAACGTGTCCCATTGTCCCTGGACAGGAAATGATTATAGAAAT
ATCCAAGGGACGTTCAGGGCTTGGTCTCAGCATTGTGGGAGGAAAAGACACACCCTTGGTAAAGACGTGCTGTGGGAGTTGGGATCTGCC
TTTTTCATCCAGAGCTCTGATGCCTGTGAACACTGAAAGAGAAAGGAATTTATTCTTCATTGCCTGTTGAAGTTCCTTTGAATCACAAAC
GGTTTGTTTGTGATCTAACTCAAGCTGATCGTCTTGCCCTCTATGATTTCGTAGTTGAGGAGACAAAGAAAAAGCGCTCTGATTCTCAAA
TTATTGAAAATGACAGCGATCTCTTTGTAGACTTGGCTGCCAAAATCAATCAAGACAATAGTCGAAAAAGTCCAAAATCCTACCTTGAAA
TCCTGGCAGAAGTACGAGATTATAAAAGAAGACGCCAGTCCTATAGAGCCAAGAATGTTCACATAACCAAGAAATCATATACTGAGGTGA
TTCGAGATGTGATAAATGTGCACATGGAAGAACTCAGCAATCATTGGCAAGAAGAGCAAGAGAAGGCAGAGGATGATGCCGAAAAGAATG
AAGAAAGGCGATCAGCTTCAGTAGATTCACGGCAGTCTGGTGGAAGCTATTTGGATGCTGAGTGTTCACGACATAGAAGGGATAGGAGTA
GAAGCCCACATAAAAGAAAAAGAAACAAAGATAAGGATAAAAACTGTGAGTCGAGAAGAAGGAAAGAGAGGGATGGGGAAAGACACCATA
GTCATAAAAGAAGAAAGCAAAAAATATAAATGAAGTACTTGTACCTATATTAATTATGCTTACGCCATGATAACCAATATACAGATATAT
TAATTGGAATTCCTTTGCATAGGAGAATGTTTTTATGATCTGTTTAGTGCTTATTATTTTTTTTATGATCTGTTTAGTGCTTATTATTTT
CCAGTAAATATGCTTCAAACCATGAGTACACTATTAGGCCCTACAACTTTGTTTTCCTTATATTTTATTAGATGATTTGCTTCCTATAAC
TGATGTTGTTTTGTTCGTTTTGCTAATATATGTATCTCAAAATTCTTTAAGTCAATATTTATCATATGTAAATTAAACATGAATACATTC
TCATCTTATAACTACATCTTATAAATAAGGCTAATAACCCTTAGAACACCACCTGCGGTTCTGTCCTCACCCCAGTGGTGACTACTGTTT
ACCACTACACTGGTGAATTGTAGTAGGGAAAAACAATCTAAATATTGAAGAGGAATGGCCTAATTAAAATATGATGTAGTCATAGGATAG
ATTATTGTATTGGAGTTAAAAGAAATAATCTAGATCCATATTAACCTGGATTGGTCTCAAAAACATAATGCTCAGTGAAAATAGCAAGTT
GTAGAAAGTTATATACAAATTATATATATGTACAAAACAATACTATGCATTCTCTATGGCTATATAATGTACGTAAATCTATTTTTAAAG
GTTCAGAGGAATCCATACCAAAGTTCTAACAGCGAGTAGGAGGTATAGATGAGAGATTAGGGGTGCAAATCAGGATTGGGAGGGTGGTCA
GAGGGAACTTTAGCTTTATCCATAACATTAATTTTTTTAAAAAATAAGGTCTTAATGTTTCATTTAATTTAAAATATACTGTCATGTTGT
GTTTTGTAAATCAACTGAATTGAGGTACTATTTACTTAGATTTATTGCACCCTTTTTACGTGTGTATTTTATTGGGTTTTGACAGATTCA
TACCTCTGTGCAGCCACTATCACGATCAAGATACAAATATTTTCATTGCCCCCAAAATTCTCATACCCCCTTTCCCAATCAATTCCTCTA
CCCCTAGCCCTAGGCAGCCACAGATTTGCTTTTGGTTACCGATTAGATCTATCCATTGTAGAATTCATGTAAATAGAATACTGTAGTATG
TACTTTGCCTTCTTCCTCTCTGCAGATTTTTGAGATTGATCCCTGTGTGTCAGTTGTGCATTTTTTTTGTTGCTGAGTAGTATGTTCTAT
CTTATGTCAGATCATTCACGTGAGACTTTGGCATGAAATGTTAAGCATCCGACATCTAAATAGCAATATTTTGAATACTGGAAACTCAGG
TTAAAGATTTTGTTTCCAAGTAGAAATGAAATCTTATTATTTTAATAAGTAGCTGACAGTGACAGAAAGATTGGATTTGGATCAGATTGG
CTGTTAGGCTTCAGGTATGGGAAACAGCTCTCAGATTTATAAATTGGAAATCACCAGGTTACTTGCCAATATATAGTCATATTGCTGCCA
TTGTACTTAATTTCTAAATATATAAAATCCACATTTAAAAATTATAAAAGCAAGGACTTGGGAGTGACTGATGAATCATGAAATTGCTGC
TTTTATAGATCAAAACTACTTGAATCATCAGGAATTTCATATTTTTCATATTGTGTGACAACTTATAATTTTGTTTCAAATTGTGATTTC
ATTGATTTTACTAACTGGAAGGAAGAAGAGTAAAATTGGCATATTTAGGTTTTTTGTAGAAGAAAGATACAAGTGAAAATTAGGAGTGGA
TTGGAGAAATTGGGGGGAAATAGAAGAGTACGGAGAAAGGAAGAGATTGAAAATGTTACCAGAGTTCTTTAAAGCTCACATTTTATAGTA
TCACTGCTACAAACTATTTAATGAAATGTGGCATCGGGTGAAAAGAGGCATTTGTTTGATCCTTGAACGAATTAATCTCACGTACTTCCC
TGTTTGTGGTTTGAGCCTTTCACTGGATGTGAGCTACTTGAGAGCAGGGTTTATGCCTTCATCAGCGTGACCCCTGTGCCTGCAGCCTCA
TAGGTGTTAATCTGTAATTTTAAATTTTGACAAAAGCATTTTCACAGCCCTGCCACATAAGATCTAGTTTTTATTTCTAGAGTGCTGCTA
TGAATAATTACTATAGCTGCTGTCCATCTTGCCCATCCATTAAGGTACCTTCTCACAAACATTTCTAATCTACTGGCTGGAGTGCAGTGG
TGCAGTCTGTAGCTCACTGCAGCCTCAAACTCCTAGGCTCAGGCGATCCTCTTGCCCTGGCCTCCCATGTAGCTGCAACTATAGGTGTGT
GCCACTACACCTGGCTAATGTTTTTAGTTTTTTAGAGATGGAGTCTTGCTCTGTTGCCTAGGCTGGTCTTGAACTCCTGGGCTCAGATGA
TCCTCCTGTCCTCAGCCTCCCAAAATGCTGGGAGCCACCAGGCACCAGGTGTGATCTACCACACCTGTCTAAAAAGTATGTATTTTTAAA
TTTTTTTGTAGAGACAGGATCTCACTATGTTCTCCAGCTGGTCTCAAGCTCCTGGCCTCGGCCTCCTAAAGTGCTGGGATTACAAGTGTG
AGCCACTGTGCCTAGTCACTTTAATTGAGATATTGGCAAGTCAACTGCCATGCAGAGCCCAGGGCACTGGTTATATTCAGTAGGAAACTG
AACTCAGCACTCAGAATTTTAAATTAAATCAATGATCTTCAAGTATTTGCCACTTTCGAGTACAGCTAATTGGATAATCTCAAACCCTTT
AGTGAAAATATCTTAAATGCATTGAGAATATTTTCTAATTACCTGTGTATGCTACAGTACAGACATTAATTCTATAAACATGTTCATAGG
TCTTCCCCCTCGCCCCGCCCGTCTTCTAAGGGCATTTTCTGTTTCTTTTTAGTGAGTTCATGAATGTTTAACGGTTCTGGCGCAAAGCTT
TCTTGCATTCTGAGCATAAAAATAATAAAACCCACTTATATTTGCTTGAGTGTGTTTACAAGTCAATTTCCTTTTATGTAGCTTGCTTTT

>In-frame_ENST00000545929_ENST00000342415_135N_INADL_chr1_62579918_+_SNRNP48_chr6_7601568_length(amino acids)=208AA_start in transcript=752_stop in transcript=1378
MKEKGIYSSLPVEVPLNHKRFVCDLTQADRLALYDFVVEETKKKRSDSQIIENDSDLFVDLAAKINQDNSRKSPKSYLEILAEVRDYKRR
RQSYRAKNVHITKKSYTEVIRDVINVHMEELSNHWQEEQEKAEDDAEKNEERRSASVDSRQSGGSYLDAECSRHRRDRSRSPHKRKRNKD

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

Top

Fusion Gene PPI Analysis for INADL-SNRNP48

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 INADL-SNRNP48

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

Top

Related Diseases for INADL-SNRNP48

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source