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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:CPS1-PLEKHM3 (FusionGDB2 ID:19108)

Fusion Gene Summary for CPS1-PLEKHM3

check button Fusion gene summary
Fusion gene informationFusion gene name: CPS1-PLEKHM3
Fusion gene ID: 19108
HgeneTgene
Gene symbol

CPS1

PLEKHM3

Gene ID

1589

389072

Gene namecytochrome P450 family 21 subfamily A member 2pleckstrin homology domain containing M3
SynonymsCA21H|CAH1|CPS1|CYP21|CYP21B|P450c21BDAPR|PLEKHM1L
Cytomap

6p21.33

2q33.3

Type of geneprotein-codingprotein-coding
Descriptionsteroid 21-hydroxylase21-OHasecytochrome P450 XXIcytochrome P450, family 21, subfamily A, polypeptide 2cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2cytochrome P450-C21Bsteroid 21 hydroxylasepleckstrin homology domain-containing family M member 3PH domain-containing family M member 3differentiation associated protein
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000430249, ENST00000233072, 
ENST00000451903, ENST00000497121, 
ENST00000427836, ENST00000389247, 
ENST00000457206, 
Fusion gene scores* DoF score10 X 11 X 4=4407 X 4 X 5=140
# samples 116
** MAII scorelog2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/140*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPS1 [Title/Abstract] AND PLEKHM3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCPS1(211481265)-PLEKHM3(208693220), # samples:3
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCPS1

GO:0006694

steroid biosynthetic process

25855791


check buttonFusion gene breakpoints across CPS1 (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 PLEKHM3 (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
ChimerDB4SARCTCGA-DX-AATS-01ACPS1chr2

211481265

+PLEKHM3chr2

208693220

-
ChimerDB4SARCTCGA-DX-A48K-01ACPS1chr2

211481265

+PLEKHM3chr2

208693220

-
ChimerDB4SARCTCGA-DX-AATS-01ACPS1chr2

211481265

-PLEKHM3chr2

208693220

-


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Fusion Gene ORF analysis for CPS1-PLEKHM3

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-frameENST00000430249ENST00000427836CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
5CDS-intronENST00000430249ENST00000389247CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
5CDS-intronENST00000430249ENST00000457206CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
In-frameENST00000233072ENST00000427836CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
5CDS-intronENST00000233072ENST00000389247CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
5CDS-intronENST00000233072ENST00000457206CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
In-frameENST00000451903ENST00000427836CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
5CDS-intronENST00000451903ENST00000389247CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
5CDS-intronENST00000451903ENST00000457206CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
intron-3CDSENST00000497121ENST00000427836CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
intron-intronENST00000497121ENST00000389247CPS1chr2

211481265

+PLEKHM3chr2

208693220

-
intron-intronENST00000497121ENST00000457206CPS1chr2

211481265

+PLEKHM3chr2

208693220

-

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)
ENST00000430249CPS1chr2211481265+ENST00000427836PLEKHM3chr2208693220-29542760552937960
ENST00000233072CPS1chr2211481265+ENST00000427836PLEKHM3chr2208693220-307728831963060954
ENST00000451903CPS1chr2211481265+ENST00000427836PLEKHM3chr2208693220-202618323122009565

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
ENST00000430249ENST00000427836CPS1chr2211481265+PLEKHM3chr2208693220-0.0009564320.9990435
ENST00000233072ENST00000427836CPS1chr2211481265+PLEKHM3chr2208693220-0.0005614460.9994386
ENST00000451903ENST00000427836CPS1chr2211481265+PLEKHM3chr2208693220-0.0017244850.9982755

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Fusion Genomic Features for CPS1-PLEKHM3


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 CPS1-PLEKHM3


check button Go to

FGviewer for the breakpoints of chr2:211481265-chr2:208693220

.
- 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
HgeneCPS1chr2:211481265chr2:208693220ENST00000233072+2138219_404895.66666666666661501.0DomainNote=Glutamine amidotransferase type-1
HgeneCPS1chr2:211481265chr2:208693220ENST00000233072+2138551_743895.66666666666661501.0DomainNote=ATP-grasp 1
HgeneCPS1chr2:211481265chr2:208693220ENST00000430249+2239219_404901.66666666666661507.0DomainNote=Glutamine amidotransferase type-1
HgeneCPS1chr2:211481265chr2:208693220ENST00000430249+2239551_743901.66666666666661507.0DomainNote=ATP-grasp 1
HgeneCPS1chr2:211481265chr2:208693220ENST00000451903+1128219_404444.66666666666671050.0DomainNote=Glutamine amidotransferase type-1
HgeneCPS1chr2:211481265chr2:208693220ENST00000233072+213839_218895.66666666666661501.0RegionNote=Anthranilate phosphoribosyltransferase homolog
HgeneCPS1chr2:211481265chr2:208693220ENST00000430249+223939_218901.66666666666661507.0RegionNote=Anthranilate phosphoribosyltransferase homolog
HgeneCPS1chr2:211481265chr2:208693220ENST00000451903+112839_218444.66666666666671050.0RegionNote=Anthranilate phosphoribosyltransferase homolog
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000038924708169_1750718.0Compositional biasNote=Poly-Gln
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000038924708211_3080718.0DomainPH 1
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000038924708361_4560718.0DomainPH 2
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000038924708669_7220718.0Zinc fingerNote=Phorbol-ester/DAG-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCPS1chr2:211481265chr2:208693220ENST00000233072+21381093_1284895.66666666666661501.0DomainNote=ATP-grasp 2
HgeneCPS1chr2:211481265chr2:208693220ENST00000233072+21381355_1500895.66666666666661501.0DomainMGS-like
HgeneCPS1chr2:211481265chr2:208693220ENST00000430249+22391093_1284901.66666666666661507.0DomainNote=ATP-grasp 2
HgeneCPS1chr2:211481265chr2:208693220ENST00000430249+22391355_1500901.66666666666661507.0DomainMGS-like
HgeneCPS1chr2:211481265chr2:208693220ENST00000451903+11281093_1284444.66666666666671050.0DomainNote=ATP-grasp 2
HgeneCPS1chr2:211481265chr2:208693220ENST00000451903+11281355_1500444.66666666666671050.0DomainMGS-like
HgeneCPS1chr2:211481265chr2:208693220ENST00000451903+1128551_743444.66666666666671050.0DomainNote=ATP-grasp 1
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000042783668169_175702.6666666666666762.0Compositional biasNote=Poly-Gln
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000042783668211_308702.6666666666666762.0DomainPH 1
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000042783668361_456702.6666666666666762.0DomainPH 2
TgenePLEKHM3chr2:211481265chr2:208693220ENST0000042783668669_722702.6666666666666762.0Zinc fingerNote=Phorbol-ester/DAG-type


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Fusion Gene Sequence for CPS1-PLEKHM3


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_ENST00000430249_ENST00000427836_TCGA-DX-AATS-01A_CPS1_chr2_211481265_+_PLEKHM3_chr2_208693220_length(transcript)=2954nt_BP=2760nt
GAAATGTAGTTGCTTTCTTAACCTCATCAAATTCATGAAGATTTAGCCGAGGCCCATGCCACAAATCATCAAAATGACGAGGATTTTGAC
AGCTTTCAAAGTGGTGAGGACACTGAAGACTGGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTGGCAT
CAGGCTCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGATGAAAGGTTACTCCTTTGGCCATCCATCCTC
TGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGGGTACCCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAAT
GGCCAACCCTATTATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAATATTTGGAGTCTAATGGAAT
CAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAACCACTGGCTGGCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGA
AAAGGTTCCTGCAATTTATGGAGTGGACACAAGAATGCTGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGGAAGATTGAATTTGA
AGGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTCAACCAAGGATGTCAAAGTGTACGGCAAAGGAAA
CCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCC
CTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAGAACCACTAATTCA
GAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCAGTACAGGAAACTTAATAACAGGATTGGCTGCTGGTGC
CAAAACCTACAAGATGTCCATGGCCAACAGAGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCTCAGAA
TCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAATGTCAACGATCAAACAAATGAGGGGATTATGCA
TGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTTTCTC
ACTGATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCT
TATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAA
TGTCAAAACTGTTCTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCC
CATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTG
TGGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGA
CAGGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGC
AGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTT
GATGGACCTCAGCACAAAGGCCTTTGCTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGT
GGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGT
GGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGA
ATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGC
CTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGG
GAAGACATCAGCCTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAG
CCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTG
CCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACC
AAGCAGCACGCGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCACATACATTGACAAGTG
GTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCTCAACAGGTGTGAAAGCTGTGGAGCCGTTTTCCATTC
TGAATGCAAAGAAAAGTCTGTCCCCTGCCCGAGGTGTGTTCGCCGAGAGCTGCAGAAGAAGCAGAAGTCTTTCTGGCAGAGACTGAACAT

>In-frame_ENST00000430249_ENST00000427836_TCGA-DX-AATS-01A_CPS1_chr2_211481265_+_PLEKHM3_chr2_208693220_length(amino acids)=960AA_start in transcript=55_stop in transcript=2937
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT
FEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGL

--------------------------------------------------------------
>In-frame_ENST00000233072_ENST00000427836_TCGA-DX-AATS-01A_CPS1_chr2_211481265_+_PLEKHM3_chr2_208693220_length(transcript)=3077nt_BP=2883nt
GGGGTTAAGAGAAGGAGGAGCTGTGGCTGAAGACATTTAATGGCAGAATGAATGGAAATTCAAAGATCGCTGTGCAGTCAGCCTTAAACA
CTGACTGCACCCCTCCCAGATTTCTTTTACATTAACTAAAAAGTCTTATCACACAATCTCATAAAATTTATGTAATTTCATTTAATTTTA
GCCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGACTGGTTTTGGCTTTACCAATGTGACTGC
ACACCAAAAATGGAAATTTTCAAGACCTGGCATCAGGCTCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAA
GATGAAAGGTTACTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGGGTACCCAGAAGCTATTAC
TGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACCCTATTATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACT
GGGACTTAGCAAATATTTGGAGTCTAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAACCACTGGCTGGC
TACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATGGAGTGGACACAAGAATGCTGACTAAAATAATTCGGGA
TAAGGGTACCATGCTTGGGAAGATTGAATTTGAAGGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTC
AACCAAGGATGTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTGCT
AGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACC
GGGGAACCCAGCTCTTGCAGAACCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCAGTAC
AGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAGAGGGCAGAATCAGCCTGTTTTGAATAT
CACAAACAAACAGGCTTTCATTACTGCTCAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAA
TGTCAACGATCAAACAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAAT
AGACACTGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACT
AGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAATTTGATTACTCAGG
ATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTGGG
CTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTTAAT
TCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTGGG
AACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTT
TGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGGTT
AGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCTATGACCAACCAAATTCTGGTGGAGAAGTC
AGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGC
CATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGATGTTGAGACGTACTTCAAT
CAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGT
GAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTGCAAAGATTGCCCTAGGAAT
CCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCG
CTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTCGTACCTT
TGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATC
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGA
TGAGATTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCTCAA
CAGGTGTGAAAGCTGTGGAGCCGTTTTCCATTCTGAATGCAAAGAAAAGTCTGTCCCCTGCCCGAGGTGTGTTCGCCGAGAGCTGCAGAA
GAAGCAGAAGTCTTTCTGGCAGAGACTGAACATGGACGAGAGTCTAGAGGAGGCTTGCACCATGTTCGAGCTGTCCTACCAGAACACCTG

>In-frame_ENST00000233072_ENST00000427836_TCGA-DX-AATS-01A_CPS1_chr2_211481265_+_PLEKHM3_chr2_208693220_length(amino acids)=954AA_start in transcript=196_stop in transcript=3060
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ
KALRMCHPSIEGFTPRLPMNKEWPSNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNRCESC

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>In-frame_ENST00000451903_ENST00000427836_TCGA-DX-AATS-01A_CPS1_chr2_211481265_+_PLEKHM3_chr2_208693220_length(transcript)=2026nt_BP=1832nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGGCCATTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTA
AACATGGAAAAGACACTGAAAGGCCTCAACAGGTGTGAAAGCTGTGGAGCCGTTTTCCATTCTGAATGCAAAGAAAAGTCTGTCCCCTGC
CCGAGGTGTGTTCGCCGAGAGCTGCAGAAGAAGCAGAAGTCTTTCTGGCAGAGACTGAACATGGACGAGAGTCTAGAGGAGGCTTGCACC

>In-frame_ENST00000451903_ENST00000427836_TCGA-DX-AATS-01A_CPS1_chr2_211481265_+_PLEKHM3_chr2_208693220_length(amino acids)=565AA_start in transcript=312_stop in transcript=2009
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL
RKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNRCESCGAVFHSECKEKSVPCPRCVRRELQKKQKS

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Fusion Gene PPI Analysis for CPS1-PLEKHM3


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 CPS1-PLEKHM3


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 CPS1-PLEKHM3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCPS1C4082171Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency19CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCPS1C0751753Carbamoyl-Phosphate Synthase I Deficiency Disease13CLINGEN;CTD_human;ORPHANET
HgeneCPS1C0220994Hyperammonemia2CTD_human
HgeneCPS1C4085580Carbamoyl Phosphate Synthase 1 Deficiency2CTD_human
HgeneCPS1C0009421Comatose1CTD_human
HgeneCPS1C0019193Hepatitis, Toxic1CTD_human
HgeneCPS1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCPS1C0031190Persistent Fetal Circulation Syndrome1CTD_human
HgeneCPS1C0032927Precancerous Conditions1CTD_human
HgeneCPS1C0282313Condition, Preneoplastic1CTD_human
HgeneCPS1C0376618Endotoxemia1CTD_human
HgeneCPS1C0860207Drug-Induced Liver Disease1CTD_human
HgeneCPS1C0860634Psychogenic coma1CTD_human
HgeneCPS1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCPS1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCPS1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCPS1C4279912Chemically-Induced Liver Toxicity1CTD_human