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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PUM1-SNRNP40 (FusionGDB2 ID:70252)

Fusion Gene Summary for PUM1-SNRNP40

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM1-SNRNP40
Fusion gene ID: 70252
HgeneTgene
Gene symbol

PUM1

SNRNP40

Gene ID

9698

9410

Gene namepumilio RNA binding family member 1small nuclear ribonucleoprotein U5 subunit 40
SynonymsHSPUM|PUMH|PUMH1|PUML1|SCA4740K|HPRP8BP|PRP8BP|PRPF8BP|SPF38|WDR57
Cytomap

1p35.2

1p35.2

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 1pumilio-1U5 small nuclear ribonucleoprotein 40 kDa protein38 kDa-splicing factorPrp8-binding proteinU5 snRNP 40 kDa proteinU5 snRNP-specific 40 kDa protein (hPrp8-binding)U5-40KU5-40kD proteinWD repeat domain 57 (U5 snRNP specific)WD repeat-containing prot
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000424085, ENST00000257075, 
ENST00000373747, ENST00000426105, 
ENST00000440538, ENST00000373741, 
ENST00000423018, ENST00000373742, 
ENST00000490546, 		ENST00000263694, 
ENST00000489853, ENST00000373720, 
ENST00000446633, 
Fusion gene scores* DoF score38 X 31 X 15=176701 X 1 X 1=1
# samples 561
** MAII scorelog2(56/17670*10)=-4.97973140249401
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: PUM1 [Title/Abstract] AND SNRNP40 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPUM1(31532051)-SNRNP40(31744346), # samples:2
Anticipated loss of major functional domain due to fusion event.PUM1-SNRNP40 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PUM1-SNRNP40 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePUM1

GO:0010608

posttranscriptional regulation of gene expression

25100735

HgenePUM1

GO:0043488

regulation of mRNA stability

26724866

HgenePUM1

GO:0051726

regulation of cell cycle

20818387

HgenePUM1

GO:0051983

regulation of chromosome segregation

26724866

HgenePUM1

GO:1900246

positive regulation of RIG-I signaling pathway

25340845

HgenePUM1

GO:2000637

positive regulation of gene silencing by miRNA

20818387|22345517


check buttonFusion gene breakpoints across PUM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SNRNP40 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-EO-A1Y7-01APUM1chr1

31532051

-SNRNP40chr1

31744346

-
ChimerDB4UCECTCGA-EO-A1Y7-01APUM1chr1

31532051

-SNRNP40chr1

31744346

-


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Fusion Gene ORF analysis for PUM1-SNRNP40

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000424085ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000424085ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000424085ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000424085ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
Frame-shiftENST00000257075ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000257075ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000257075ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000257075ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
Frame-shiftENST00000373747ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000373747ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000373747ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000373747ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
Frame-shiftENST00000426105ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000426105ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000426105ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000426105ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
Frame-shiftENST00000440538ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000440538ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000440538ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000440538ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
In-frameENST00000373741ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000373741ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000373741ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000373741ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
Frame-shiftENST00000423018ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000423018ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000423018ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000423018ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
In-frameENST00000373742ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-5UTRENST00000373742ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000373742ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
5CDS-intronENST00000373742ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-
intron-3CDSENST00000490546ENST00000263694PUM1chr1

31532051

-SNRNP40chr1

31744346

-
intron-5UTRENST00000490546ENST00000489853PUM1chr1

31532051

-SNRNP40chr1

31744346

-
intron-intronENST00000490546ENST00000373720PUM1chr1

31532051

-SNRNP40chr1

31744346

-
intron-intronENST00000490546ENST00000446633PUM1chr1

31532051

-SNRNP40chr1

31744346

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000373741PUM1chr131532051-ENST00000263694SNRNP40chr131744346-15996771131096327
ENST00000373742PUM1chr131532051-ENST00000263694SNRNP40chr131744346-13934710890296

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000373741ENST00000263694PUM1chr131532051-SNRNP40chr131744346-0.0238896520.9761103
ENST00000373742ENST00000263694PUM1chr131532051-SNRNP40chr131744346-0.0201703740.97982967

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Fusion Genomic Features for PUM1-SNRNP40


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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 PUM1-SNRNP40


check button Go to

FGviewer for the breakpoints of chr1:31532051-chr1:31744346

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSNRNP40chr1:31532051chr1:31744346ENST00000263694410233_272218.0358.0RepeatNote=WD 5
TgeneSNRNP40chr1:31532051chr1:31744346ENST00000263694410283_322218.0358.0RepeatNote=WD 6
TgeneSNRNP40chr1:31532051chr1:31744346ENST00000263694410325_357218.0358.0RepeatNote=WD 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222393_613121.01187.0Compositional biasNote=Ala-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222475_523121.01187.0Compositional biasNote=Gln-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222642_815121.01187.0Compositional biasNote=Ser-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222393_613121.01189.0Compositional biasNote=Ala-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222475_523121.01189.0Compositional biasNote=Gln-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222642_815121.01189.0Compositional biasNote=Ser-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222393_613121.01163.0Compositional biasNote=Ala-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222475_523121.01163.0Compositional biasNote=Gln-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222642_815121.01163.0Compositional biasNote=Ser-rich
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222828_1168121.01187.0DomainPUM-HD
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222828_1168121.01189.0DomainPUM-HD
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222828_1168121.01163.0DomainPUM-HD
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-2221028_1063121.01187.0RepeatPumilio 6
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-2221064_1099121.01187.0RepeatPumilio 7
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-2221103_1142121.01187.0RepeatPumilio 8
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222848_883121.01187.0RepeatPumilio 1
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222884_919121.01187.0RepeatPumilio 2
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222920_955121.01187.0RepeatPumilio 3
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222956_991121.01187.0RepeatPumilio 4
HgenePUM1chr1:31532051chr1:31744346ENST00000257075-222992_1027121.01187.0RepeatPumilio 5
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-2221028_1063121.01189.0RepeatPumilio 6
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-2221064_1099121.01189.0RepeatPumilio 7
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-2221103_1142121.01189.0RepeatPumilio 8
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222848_883121.01189.0RepeatPumilio 1
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222884_919121.01189.0RepeatPumilio 2
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222920_955121.01189.0RepeatPumilio 3
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222956_991121.01189.0RepeatPumilio 4
HgenePUM1chr1:31532051chr1:31744346ENST00000426105-222992_1027121.01189.0RepeatPumilio 5
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-2221028_1063121.01163.0RepeatPumilio 6
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-2221064_1099121.01163.0RepeatPumilio 7
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-2221103_1142121.01163.0RepeatPumilio 8
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222848_883121.01163.0RepeatPumilio 1
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222884_919121.01163.0RepeatPumilio 2
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222920_955121.01163.0RepeatPumilio 3
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222956_991121.01163.0RepeatPumilio 4
HgenePUM1chr1:31532051chr1:31744346ENST00000440538-222992_1027121.01163.0RepeatPumilio 5
TgeneSNRNP40chr1:31532051chr1:31744346ENST00000263694410107_146218.0358.0RepeatNote=WD 2
TgeneSNRNP40chr1:31532051chr1:31744346ENST00000263694410149_189218.0358.0RepeatNote=WD 3
TgeneSNRNP40chr1:31532051chr1:31744346ENST00000263694410191_230218.0358.0RepeatNote=WD 4
TgeneSNRNP40chr1:31532051chr1:31744346ENST0000026369441064_103218.0358.0RepeatNote=WD 1


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Fusion Gene Sequence for PUM1-SNRNP40


check button 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_ENST00000373741_ENST00000263694_TCGA-EO-A1Y7-01A_PUM1_chr1_31532051_-_SNRNP40_chr1_31744346_length(transcript)=1599nt_BP=677nt
AACCCCGCGTGCCCAGCTCCAGGCCGTGTTCTCCCAGGTGCGGGCCGGCGGGACCCCGCCTTCGGCCCTGGCGGCGCGCGCTCGCCTAGC
GGGCGGGCACTCGCGCGCAGCGTTTGTGTTGCCTGCGAGTTTCCCGAGTTCACACAGGCCCTGGGTTGGCATGGCAACCAGGCAACCTGT
TCCAGAGCCGCCAGCCTTCTCCGCACATGCCGCTGCCACCGCCGGGGCCGGGGCCGGAGCCTATCCCAGGATGCACCGCGCCAACCCAGT
CCCCAGTGGGCCGCCATGTTGTCGGAGTGAAAGGTGTTGGTGGAATGAGCGTTGCATGTGTCTTGAAGAGAAAAGCAGTGCTTTGGCAGG
ACTCTTTCAGCCCCCACCTGAAACATCACCCTCAAGAACCAGCTAATCCCAACATGCCTGTTGTTTTGACATCTGGAACAGGGTCGCAAG
CGCAGCCACAACCAGCTGCAAATCAGGCTCTTGCAGCTGGGACTCACTCCAGCCCTGTCCCAGGATCTATAGGAGTTGCAGGCCGTTCCC
AGGACGACGCTATGGTGGACTACTTCTTTCAGAGGCAGCATGGTGAGCAGCTTGGGGGAGGAGGAAGTGGAGGAGGCGGCTATAATAATA
GCAAACATCGATGGCCTACTGGGGATAACATTCATGCAGAACATCAGGTCTGGGACCTGCGCCAGAACAAGCTAACCTACACCATGAGAG
GCCATGCAGATTCAGTGACTGGCCTGAGTTTAAGTTCTGAAGGCTCTTATCTTTTGTCCAATGCAATGGACAATACAGTTCGTGTCTGGG
ATGTCCGGCCATTTGCCCCCAAAGAGAGATGTGTAAAGATATTTCAAGGAAATGTGCACAACTTTGAAAAGAACCTTCTGAGATGTTCTT
GGTCACCTGATGGAAGCAAAATAGCAGCTGGCTCAGCCGACAGGTTTGTTTATGTGTGGGATACCACAAGCAGGAGAATATTGTATAAGC
TGCCCGGCCATGCTGGCTCCATCAATGAAGTGGCTTTCCACCCTGATGAGCCCATCATTATCTCAGCATCGAGTGACAAGAGACTGTATA
TGGGAGAGATTCAGTGAAGATATGGACTGGAAGACTCCAAGGCCGCTTGTCTTTGAGACCTCAGACTGCATAAGTGATGCCAAATGTTGG
ATGTCCAGGCTAGCACCCTCCCTTCAGATGACCATTGCTAGCAAGAAACAGGAGGCGGTGGCCATATTCCAAAAACCACTTCTGTCCCAT
TTCACCAGGATGACTAAGGCAAGCTCCCTGTGGCCTCTAAAAACCACCTGCCAGATTTCAGGGACTGTTTTTTTTTTTCTTTTTCTTTTT
TCCTGTTTTCTAATGCAGGCCCAATGTGACAAATTTGTTGGTTGGGATTTTTTTTTTTTTTTTGTAACTGGCTTGTATGATATTTTCTTT
CTGTATTTCTCTATATCATTTTGTATTAAAAGCCAAATAGATGCCTTTTTACAAGAGCCATGTGGATTGGATTTATTGCTGTCTTTTTTT

>In-frame_ENST00000373741_ENST00000263694_TCGA-EO-A1Y7-01A_PUM1_chr1_31532051_-_SNRNP40_chr1_31744346_length(amino acids)=327AA_start in transcript=113_stop in transcript=1096
MCCLRVSRVHTGPGLAWQPGNLFQSRQPSPHMPLPPPGPGPEPIPGCTAPTQSPVGRHVVGVKGVGGMSVACVLKRKAVLWQDSFSPHLK
HHPQEPANPNMPVVLTSGTGSQAQPQPAANQALAAGTHSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTG
DNIHAEHQVWDLRQNKLTYTMRGHADSVTGLSLSSEGSYLLSNAMDNTVRVWDVRPFAPKERCVKIFQGNVHNFEKNLLRCSWSPDGSKI

--------------------------------------------------------------
>In-frame_ENST00000373742_ENST00000263694_TCGA-EO-A1Y7-01A_PUM1_chr1_31532051_-_SNRNP40_chr1_31744346_length(transcript)=1393nt_BP=471nt
ATGCCGCTGCCACCGCCGGGGCCGGGGCCGGAGCCTATCCCAGGATGCACCGCGCCAACCCAGTCCCCAGTGGGCCGCCATGTTGTCGGA
GTGAAAGGTGTTGGTGGAATGAGCGTTGCATGTGTCTTGAAGAGAAAAGCAGTGCTTTGGCAGGACTCTTTCAGCCCCCACCTGAAACAT
CACCCTCAAGAACCAGCTAATCCCAACATGCCTGTTGTTTTGACATCTGGAACAGGGTCGCAAGCGCAGCCACAACCAGCTGCAAATCAG
GCTCTTGCAGCTGGGACTCACTCCAGCCCTGTCCCAGGATCTATAGGAGTTGCAGGCCGTTCCCAGGACGACGCTATGGTGGACTACTTC
TTTCAGAGGCAGCATGGTGAGCAGCTTGGGGGAGGAGGAAGTGGAGGAGGCGGCTATAATAATAGCAAACATCGATGGCCTACTGGGGAT
AACATTCATGCAGAACATCAGGTCTGGGACCTGCGCCAGAACAAGCTAACCTACACCATGAGAGGCCATGCAGATTCAGTGACTGGCCTG
AGTTTAAGTTCTGAAGGCTCTTATCTTTTGTCCAATGCAATGGACAATACAGTTCGTGTCTGGGATGTCCGGCCATTTGCCCCCAAAGAG
AGATGTGTAAAGATATTTCAAGGAAATGTGCACAACTTTGAAAAGAACCTTCTGAGATGTTCTTGGTCACCTGATGGAAGCAAAATAGCA
GCTGGCTCAGCCGACAGGTTTGTTTATGTGTGGGATACCACAAGCAGGAGAATATTGTATAAGCTGCCCGGCCATGCTGGCTCCATCAAT
GAAGTGGCTTTCCACCCTGATGAGCCCATCATTATCTCAGCATCGAGTGACAAGAGACTGTATATGGGAGAGATTCAGTGAAGATATGGA
CTGGAAGACTCCAAGGCCGCTTGTCTTTGAGACCTCAGACTGCATAAGTGATGCCAAATGTTGGATGTCCAGGCTAGCACCCTCCCTTCA
GATGACCATTGCTAGCAAGAAACAGGAGGCGGTGGCCATATTCCAAAAACCACTTCTGTCCCATTTCACCAGGATGACTAAGGCAAGCTC
CCTGTGGCCTCTAAAAACCACCTGCCAGATTTCAGGGACTGTTTTTTTTTTTCTTTTTCTTTTTTCCTGTTTTCTAATGCAGGCCCAATG
TGACAAATTTGTTGGTTGGGATTTTTTTTTTTTTTTTGTAACTGGCTTGTATGATATTTTCTTTCTGTATTTCTCTATATCATTTTGTAT
TAAAAGCCAAATAGATGCCTTTTTACAAGAGCCATGTGGATTGGATTTATTGCTGTCTTTTTTTTGAGGCTTGATTGCTATAAATCAGAA

>In-frame_ENST00000373742_ENST00000263694_TCGA-EO-A1Y7-01A_PUM1_chr1_31532051_-_SNRNP40_chr1_31744346_length(amino acids)=296AA_start in transcript=0_stop in transcript=890
MPLPPPGPGPEPIPGCTAPTQSPVGRHVVGVKGVGGMSVACVLKRKAVLWQDSFSPHLKHHPQEPANPNMPVVLTSGTGSQAQPQPAANQ
ALAAGTHSSPVPGSIGVAGRSQDDAMVDYFFQRQHGEQLGGGGSGGGGYNNSKHRWPTGDNIHAEHQVWDLRQNKLTYTMRGHADSVTGL
SLSSEGSYLLSNAMDNTVRVWDVRPFAPKERCVKIFQGNVHNFEKNLLRCSWSPDGSKIAAGSADRFVYVWDTTSRRILYKLPGHAGSIN

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Fusion Gene PPI Analysis for PUM1-SNRNP40


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for PUM1-SNRNP40


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PUM1-SNRNP40


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePUM1C0004134Ataxia1GENOMICS_ENGLAND
HgenePUM1C0010417Cryptorchidism1GENOMICS_ENGLAND
HgenePUM1C0019193Hepatitis, Toxic1CTD_human
HgenePUM1C0036572Seizures1GENOMICS_ENGLAND
HgenePUM1C0557874Global developmental delay1GENOMICS_ENGLAND
HgenePUM1C0860207Drug-Induced Liver Disease1CTD_human
HgenePUM1C1262760Hepatitis, Drug-Induced1CTD_human
HgenePUM1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgenePUM1C3714756Intellectual Disability1GENOMICS_ENGLAND
HgenePUM1C4025871Abnormality of the face1GENOMICS_ENGLAND
HgenePUM1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgenePUM1C4279912Chemically-Induced Liver Toxicity1CTD_human
HgenePUM1C4693672SPINOCEREBELLAR ATAXIA 471GENOMICS_ENGLAND;UNIPROT