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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:ADSL-PVALB (FusionGDB2 ID:2677)

Fusion Gene Summary for ADSL-PVALB

check button Fusion gene summary
Fusion gene informationFusion gene name: ADSL-PVALB
Fusion gene ID: 2677
HgeneTgene
Gene symbol

ADSL

PVALB

Gene ID

158

5816

Gene nameadenylosuccinate lyaseparvalbumin
SynonymsAMPS|ASASE|ASLD22S749
Cytomap

22q13.1

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionadenylosuccinate lyaseadenylosuccinaseparvalbumin alpha
Modification date2020031520200313
UniProtAcc

P30566

.
Ensembl transtripts involved in fusion geneENST00000216194, ENST00000454266, 
ENST00000342312, ENST00000480775, 
ENST00000417718, ENST00000216200, 
ENST00000404171, 
Fusion gene scores* DoF score5 X 5 X 3=753 X 3 X 2=18
# samples 54
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ADSL [Title/Abstract] AND PVALB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADSL(40742715)-PVALB(37196962), # samples:4
Anticipated loss of major functional domain due to fusion event.ADSL-PVALB seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ADSL-PVALB 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)

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

GO:0006167

AMP biosynthetic process

11428554


check buttonFusion gene breakpoints across ADSL (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 PVALB (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
ChimerDB4OVTCGA-61-2111-01AADSLchr22

40742715

+PVALBchr22

37196962

-
ChimerDB4OVTCGA-61-2111ADSLchr22

40742715

+PVALBchr22

37196962

-
ChimerDB4OVTCGA-61-2111-01AADSLchr22

40742715

+PVALBchr22

37196962

-
ChimerDB4OVTCGA-61-2111-01AADSLchr22

40742715

-PVALBchr22

37196962

-


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Fusion Gene ORF analysis for ADSL-PVALB

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
In-frameENST00000216194ENST00000417718ADSLchr22

40742715

+PVALBchr22

37196962

-
Frame-shiftENST00000216194ENST00000216200ADSLchr22

40742715

+PVALBchr22

37196962

-
In-frameENST00000216194ENST00000404171ADSLchr22

40742715

+PVALBchr22

37196962

-
In-frameENST00000454266ENST00000417718ADSLchr22

40742715

+PVALBchr22

37196962

-
Frame-shiftENST00000454266ENST00000216200ADSLchr22

40742715

+PVALBchr22

37196962

-
In-frameENST00000454266ENST00000404171ADSLchr22

40742715

+PVALBchr22

37196962

-
In-frameENST00000342312ENST00000417718ADSLchr22

40742715

+PVALBchr22

37196962

-
Frame-shiftENST00000342312ENST00000216200ADSLchr22

40742715

+PVALBchr22

37196962

-
In-frameENST00000342312ENST00000404171ADSLchr22

40742715

+PVALBchr22

37196962

-
intron-3CDSENST00000480775ENST00000417718ADSLchr22

40742715

+PVALBchr22

37196962

-
intron-3CDSENST00000480775ENST00000216200ADSLchr22

40742715

+PVALBchr22

37196962

-
intron-3CDSENST00000480775ENST00000404171ADSLchr22

40742715

+PVALBchr22

37196962

-

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)
ENST00000216194ADSLchr2240742715+ENST00000417718PVALBchr2237196962-4442093259875
ENST00000216194ADSLchr2240742715+ENST00000404171PVALBchr2237196962-3612093259875
ENST00000454266ADSLchr2240742715+ENST00000417718PVALBchr2237196962-4191843007375
ENST00000454266ADSLchr2240742715+ENST00000404171PVALBchr2237196962-3361842909066
ENST00000342312ADSLchr2240742715+ENST00000417718PVALBchr2237196962-4151802966975
ENST00000342312ADSLchr2240742715+ENST00000404171PVALBchr2237196962-3321802868666

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
ENST00000216194ENST00000417718ADSLchr2240742715+PVALBchr2237196962-0.778649750.22135024
ENST00000216194ENST00000404171ADSLchr2240742715+PVALBchr2237196962-0.74384880.25615123
ENST00000454266ENST00000417718ADSLchr2240742715+PVALBchr2237196962-0.619350140.38064983
ENST00000454266ENST00000404171ADSLchr2240742715+PVALBchr2237196962-0.48392370.51607627
ENST00000342312ENST00000417718ADSLchr2240742715+PVALBchr2237196962-0.62585250.3741475
ENST00000342312ENST00000404171ADSLchr2240742715+PVALBchr2237196962-0.518311260.48168874

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Fusion Genomic Features for ADSL-PVALB


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 ADSL-PVALB


check button Go to

FGviewer for the breakpoints of chr22:40742715-chr22:37196962

.
- 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
ADSL

P30566

.
FUNCTION: Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate. {ECO:0000269|PubMed:10888601}.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
HgeneADSLchr22:40742715chr22:37196962ENST00000216194+11320_2151.0485.0RegionNote=Substrate binding%3B shared with neighboring subunit
HgeneADSLchr22:40742715chr22:37196962ENST00000342312+11220_2151.0426.0RegionNote=Substrate binding%3B shared with neighboring subunit

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADSLchr22:40742715chr22:37196962ENST00000216194+113111_11251.0485.0RegionNote=Substrate binding
HgeneADSLchr22:40742715chr22:37196962ENST00000216194+11385_8751.0485.0RegionNote=Substrate binding
HgeneADSLchr22:40742715chr22:37196962ENST00000342312+112111_11251.0426.0RegionNote=Substrate binding
HgeneADSLchr22:40742715chr22:37196962ENST00000342312+11285_8751.0426.0RegionNote=Substrate binding
TgenePVALBchr22:40742715chr22:37196962ENST000002162003552_63101.33333333333333111.0Calcium bindingNote=1
TgenePVALBchr22:40742715chr22:37196962ENST000002162003591_102101.33333333333333111.0Calcium bindingNote=2
TgenePVALBchr22:40742715chr22:37196962ENST000004177182452_63101.33333333333333111.0Calcium bindingNote=1
TgenePVALBchr22:40742715chr22:37196962ENST000004177182491_102101.33333333333333111.0Calcium bindingNote=2
TgenePVALBchr22:40742715chr22:37196962ENST000002162003539_74101.33333333333333111.0DomainEF-hand 1
TgenePVALBchr22:40742715chr22:37196962ENST000002162003578_110101.33333333333333111.0DomainEF-hand 2
TgenePVALBchr22:40742715chr22:37196962ENST000004177182439_74101.33333333333333111.0DomainEF-hand 1
TgenePVALBchr22:40742715chr22:37196962ENST000004177182478_110101.33333333333333111.0DomainEF-hand 2


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Fusion Gene Sequence for ADSL-PVALB


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_ENST00000216194_ENST00000417718_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(transcript)=444nt_BP=209nt
TTTCCGCTTCCGCTCTTCCCTGGTCCAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACA
GCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGC
TGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCT
CTGCCCTGAACACCCAATCTCGGCCCCTCTCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCT

>In-frame_ENST00000216194_ENST00000417718_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(amino acids)=75AA_start in transcript=325_stop in transcript=98

--------------------------------------------------------------
>In-frame_ENST00000216194_ENST00000404171_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(transcript)=361nt_BP=209nt
TTTCCGCTTCCGCTCTTCCCTGGTCCAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACA
GCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGC
TGTGGCTGTGGCTGGCGGAGGCCGAGCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCT
CTGCCCTGAACACCCAATCTCGGCCCCTCTCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCT

>In-frame_ENST00000216194_ENST00000404171_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(amino acids)=75AA_start in transcript=325_stop in transcript=98

--------------------------------------------------------------
>In-frame_ENST00000454266_ENST00000417718_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(transcript)=419nt_BP=184nt
CAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCG
CTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGA
GCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCC
CCTCTCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCTGTGGCCCTCTAATGACACCATTCTT

>In-frame_ENST00000454266_ENST00000417718_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(amino acids)=75AA_start in transcript=300_stop in transcript=73

--------------------------------------------------------------
>In-frame_ENST00000454266_ENST00000404171_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(transcript)=336nt_BP=184nt
CAGTCCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCG
CTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGA
GCAGAATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCC

>In-frame_ENST00000454266_ENST00000404171_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(amino acids)=66AA_start in transcript=290_stop in transcript=90

--------------------------------------------------------------
>In-frame_ENST00000342312_ENST00000417718_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(transcript)=415nt_BP=180nt
CCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTAT
GCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAG
AATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCCCCTC
TCGCCACCCTCCTGCATTTCTGTTCAGTTCGTTTATGTTATTTTTTACTCCCCCATCCCCTGTGGCCCTCTAATGACACCATTCTTCTGG

>In-frame_ENST00000342312_ENST00000417718_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(amino acids)=75AA_start in transcript=296_stop in transcript=69

--------------------------------------------------------------
>In-frame_ENST00000342312_ENST00000404171_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(transcript)=332nt_BP=180nt
CCACCCTGGCGGGGTCGCAGGGTTGGGATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTAT
GCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAG
AATTCTCCACTCTGGTGGCTGAAAGCTAAGAAGCACTGACTGCCCCTGGTCTTCCACCTCTCTGCCCTGAACACCCAATCTCGGCCCCTC

>In-frame_ENST00000342312_ENST00000404171_TCGA-61-2111-01A_ADSL_chr22_40742715_+_PVALB_chr22_37196962_length(amino acids)=66AA_start in transcript=286_stop in transcript=86

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

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Fusion Gene PPI Analysis for ADSL-PVALB


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 ADSL-PVALB


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 ADSL-PVALB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADSLC0268126Adenylosuccinate lyase deficiency (disorder)11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneADSLC4721811Adenylosuccinate lyase deficiency type 13CTD_human
HgeneADSLC4721812Adenylosuccinate lyase deficiency type 43CTD_human
HgeneADSLC4721813Adenylosuccinate lyase deficiency type 33CTD_human
HgeneADSLC4721814Adenylosuccinate lyase deficiency type 23CTD_human
HgeneADSLC0004352Autistic Disorder1CTD_human
HgeneADSLC0543888Epileptic encephalopathy1GENOMICS_ENGLAND
HgeneADSLC3714756Intellectual Disability1GENOMICS_ENGLAND
TgenePVALBC0005586Bipolar Disorder1CTD_human
TgenePVALBC0005587Depression, Bipolar1CTD_human
TgenePVALBC0007134Renal Cell Carcinoma1CTD_human
TgenePVALBC0022333Jacksonian Seizure1CTD_human
TgenePVALBC0024713Manic Disorder1CTD_human
TgenePVALBC0033958Psychosis, Brief Reactive1CTD_human
TgenePVALBC0033975Psychotic Disorders1CTD_human
TgenePVALBC0036337Schizoaffective Disorder1CTD_human
TgenePVALBC0036341Schizophrenia1CTD_human
TgenePVALBC0036358Schizophreniform Disorders1CTD_human
TgenePVALBC0036572Seizures1CTD_human
TgenePVALBC0149958Complex partial seizures1CTD_human
TgenePVALBC0234533Generalized seizures1CTD_human
TgenePVALBC0234535Clonic Seizures1CTD_human
TgenePVALBC0270824Visual seizure1CTD_human
TgenePVALBC0270844Tonic Seizures1CTD_human
TgenePVALBC0270846Epileptic drop attack1CTD_human
TgenePVALBC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgenePVALBC0338831Manic1CTD_human
TgenePVALBC0422850Seizures, Somatosensory1CTD_human
TgenePVALBC0422852Seizures, Auditory1CTD_human
TgenePVALBC0422853Olfactory seizure1CTD_human
TgenePVALBC0422854Gustatory seizure1CTD_human
TgenePVALBC0422855Vertiginous seizure1CTD_human
TgenePVALBC0494475Tonic - clonic seizures1CTD_human
TgenePVALBC0751056Non-epileptic convulsion1CTD_human
TgenePVALBC0751110Single Seizure1CTD_human
TgenePVALBC0751123Atonic Absence Seizures1CTD_human
TgenePVALBC0751494Convulsive Seizures1CTD_human
TgenePVALBC0751495Seizures, Focal1CTD_human
TgenePVALBC0751496Seizures, Sensory1CTD_human
TgenePVALBC0949541Hurthle Cell Tumor1CTD_human
TgenePVALBC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgenePVALBC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgenePVALBC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgenePVALBC1306837Papillary Renal Cell Carcinoma1CTD_human
TgenePVALBC1510502Oxyphilic Adenoma1CTD_human
TgenePVALBC3495874Nonepileptic Seizures1CTD_human
TgenePVALBC4048158Convulsions1CTD_human
TgenePVALBC4316903Absence Seizures1CTD_human
TgenePVALBC4317109Epileptic Seizures1CTD_human
TgenePVALBC4317123Myoclonic Seizures1CTD_human
TgenePVALBC4505436Generalized Absence Seizures1CTD_human