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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-NDUFS1 (FusionGDB2 ID:HG1373TG4719)

Fusion Gene Summary for CPS1-NDUFS1

check button Fusion gene summary
Fusion gene informationFusion gene name: CPS1-NDUFS1
Fusion gene ID: hg1373tg4719
HgeneTgene
Gene symbol

CPS1

NDUFS1

Gene ID

1373

4719

Gene namecarbamoyl-phosphate synthase 1NADH:ubiquinone oxidoreductase core subunit S1
SynonymsCPSASE1|PHNCI-75Kd|CI-75k|MC1DN5|PRO1304
Cytomap('CPS1')('NDUFS1')

2q34

2q33.3

Type of geneprotein-codingprotein-coding
Descriptioncarbamoyl-phosphate synthase [ammonia], mitochondrialcarbamoyl-phosphate synthase (ammonia)carbamoyl-phosphate synthase 1, mitochondrialcarbamoylphosphate synthetase INADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrialNADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)complex I 75kDa subunitcomplex I, mitochondrial respiratory chain, 75-kD subunitmitochondrial NADH-ubiquinone
Modification date2020031320200313
UniProtAcc

P31327

P28331

Ensembl transtripts involved in fusion geneENST00000233072, ENST00000430249, 
ENST00000451903, ENST00000497121, 
Fusion gene scores* DoF score10 X 11 X 4=4407 X 7 X 6=294
# samples 117
** MAII scorelog2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPS1 [Title/Abstract] AND NDUFS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCPS1(211477017)-NDUFS1(206989000), # samples:1
Anticipated loss of major functional domain due to fusion event.CPS1-NDUFS1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CPS1-NDUFS1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CPS1-NDUFS1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CPS1-NDUFS1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
CPS1-NDUFS1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CPS1-NDUFS1 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
HgeneCPS1

GO:0032496

response to lipopolysaccharide

15897806

HgeneCPS1

GO:0050667

homocysteine metabolic process

20031578

TgeneNDUFS1

GO:0008637

apoptotic mitochondrial changes

15186778


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.
all structure
check buttonFusion gene breakpoints across NDUFS1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-D7-A4Z0-01ACPS1chr2

211477017

+NDUFS1chr2

206989000

-


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Fusion Gene ORF analysis for CPS1-NDUFS1

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-shiftENST00000233072ENST00000233190CPS1chr2

211477017

+NDUFS1chr2

206989000

-
Frame-shiftENST00000430249ENST00000233190CPS1chr2

211477017

+NDUFS1chr2

206989000

-
Frame-shiftENST00000451903ENST00000233190CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000233072ENST00000423725CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000233072ENST00000432169CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000233072ENST00000440274CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000233072ENST00000449699CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000233072ENST00000455934CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000233072ENST00000457011CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000430249ENST00000423725CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000430249ENST00000432169CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000430249ENST00000440274CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000430249ENST00000449699CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000430249ENST00000455934CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000430249ENST00000457011CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000451903ENST00000423725CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000451903ENST00000432169CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000451903ENST00000440274CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000451903ENST00000449699CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000451903ENST00000455934CPS1chr2

211477017

+NDUFS1chr2

206989000

-
In-frameENST00000451903ENST00000457011CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000233190CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000423725CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000432169CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000440274CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000449699CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000455934CPS1chr2

211477017

+NDUFS1chr2

206989000

-
intron-3CDSENST00000497121ENST00000457011CPS1chr2

211477017

+NDUFS1chr2

206989000

-

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)
ENST00000430249CPS1chr2211477017+ENST00000423725NDUFS1chr2206989000-30992641552712885
ENST00000430249CPS1chr2211477017+ENST00000457011NDUFS1chr2206989000-29732641552712885
ENST00000430249CPS1chr2211477017+ENST00000440274NDUFS1chr2206989000-29622641552712885
ENST00000430249CPS1chr2211477017+ENST00000455934NDUFS1chr2206989000-28192641552712885
ENST00000430249CPS1chr2211477017+ENST00000449699NDUFS1chr2206989000-28172641552712885
ENST00000430249CPS1chr2211477017+ENST00000432169NDUFS1chr2206989000-28172641552712885
ENST00000233072CPS1chr2211477017+ENST00000423725NDUFS1chr2206989000-322227641962835879
ENST00000233072CPS1chr2211477017+ENST00000457011NDUFS1chr2206989000-309627641962835879
ENST00000233072CPS1chr2211477017+ENST00000440274NDUFS1chr2206989000-308527641962835879
ENST00000233072CPS1chr2211477017+ENST00000455934NDUFS1chr2206989000-294227641962835879
ENST00000233072CPS1chr2211477017+ENST00000449699NDUFS1chr2206989000-294027641962835879
ENST00000233072CPS1chr2211477017+ENST00000432169NDUFS1chr2206989000-294027641962835879
ENST00000451903CPS1chr2211477017+ENST00000423725NDUFS1chr2206989000-217117133121784490
ENST00000451903CPS1chr2211477017+ENST00000457011NDUFS1chr2206989000-204517133121784490
ENST00000451903CPS1chr2211477017+ENST00000440274NDUFS1chr2206989000-203417133121784490
ENST00000451903CPS1chr2211477017+ENST00000455934NDUFS1chr2206989000-189117133121784490
ENST00000451903CPS1chr2211477017+ENST00000449699NDUFS1chr2206989000-188917133121784490
ENST00000451903CPS1chr2211477017+ENST00000432169NDUFS1chr2206989000-188917133121784490

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
ENST00000430249ENST00000423725CPS1chr2211477017+NDUFS1chr2206989000-0.0007649170.99923515
ENST00000430249ENST00000457011CPS1chr2211477017+NDUFS1chr2206989000-0.0010425850.9989574
ENST00000430249ENST00000440274CPS1chr2211477017+NDUFS1chr2206989000-0.0010346880.99896526
ENST00000430249ENST00000455934CPS1chr2211477017+NDUFS1chr2206989000-0.0012937570.9987062
ENST00000430249ENST00000449699CPS1chr2211477017+NDUFS1chr2206989000-0.0013230580.99867696
ENST00000430249ENST00000432169CPS1chr2211477017+NDUFS1chr2206989000-0.0013230580.99867696
ENST00000233072ENST00000423725CPS1chr2211477017+NDUFS1chr2206989000-0.000498480.99950147
ENST00000233072ENST00000457011CPS1chr2211477017+NDUFS1chr2206989000-0.0006539580.9993461
ENST00000233072ENST00000440274CPS1chr2211477017+NDUFS1chr2206989000-0.0006474950.9993525
ENST00000233072ENST00000455934CPS1chr2211477017+NDUFS1chr2206989000-0.0008328220.9991672
ENST00000233072ENST00000449699CPS1chr2211477017+NDUFS1chr2206989000-0.00084630.99915373
ENST00000233072ENST00000432169CPS1chr2211477017+NDUFS1chr2206989000-0.00084630.99915373
ENST00000451903ENST00000423725CPS1chr2211477017+NDUFS1chr2206989000-0.0008798310.9991202
ENST00000451903ENST00000457011CPS1chr2211477017+NDUFS1chr2206989000-0.0012483590.99875164
ENST00000451903ENST00000440274CPS1chr2211477017+NDUFS1chr2206989000-0.0012557580.99874425
ENST00000451903ENST00000455934CPS1chr2211477017+NDUFS1chr2206989000-0.0017934670.9982065
ENST00000451903ENST00000449699CPS1chr2211477017+NDUFS1chr2206989000-0.001822170.9981779
ENST00000451903ENST00000432169CPS1chr2211477017+NDUFS1chr2206989000-0.001822170.9981779

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Fusion Genomic Features for CPS1-NDUFS1


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.
genomic feature

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Fusion Protein Features for CPS1-NDUFS1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:211477017/chr2:206989000)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPS1

P31327

NDUFS1

P28331

FUNCTION: Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell.FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978). Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978). Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978). {ECO:0000269|PubMed:30879903, ECO:0000269|PubMed:31557978}.

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
HgeneCPS1chr2:211477017chr2:206989000ENST00000233072+2038219_4048561501.0DomainNote=Glutamine amidotransferase type-1
HgeneCPS1chr2:211477017chr2:206989000ENST00000233072+2038551_7438561501.0DomainNote=ATP-grasp 1
HgeneCPS1chr2:211477017chr2:206989000ENST00000430249+2139219_4048621507.0DomainNote=Glutamine amidotransferase type-1
HgeneCPS1chr2:211477017chr2:206989000ENST00000430249+2139551_7438621507.0DomainNote=ATP-grasp 1
HgeneCPS1chr2:211477017chr2:206989000ENST00000451903+1028219_4044051050.0DomainNote=Glutamine amidotransferase type-1
HgeneCPS1chr2:211477017chr2:206989000ENST00000233072+203839_2188561501.0RegionNote=Anthranilate phosphoribosyltransferase homolog
HgeneCPS1chr2:211477017chr2:206989000ENST00000430249+213939_2188621507.0RegionNote=Anthranilate phosphoribosyltransferase homolog
HgeneCPS1chr2:211477017chr2:206989000ENST00000451903+102839_2184051050.0RegionNote=Anthranilate phosphoribosyltransferase homolog

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCPS1chr2:211477017chr2:206989000ENST00000233072+20381093_12848561501.0DomainNote=ATP-grasp 2
HgeneCPS1chr2:211477017chr2:206989000ENST00000233072+20381355_15008561501.0DomainMGS-like
HgeneCPS1chr2:211477017chr2:206989000ENST00000430249+21391093_12848621507.0DomainNote=ATP-grasp 2
HgeneCPS1chr2:211477017chr2:206989000ENST00000430249+21391355_15008621507.0DomainMGS-like
HgeneCPS1chr2:211477017chr2:206989000ENST00000451903+10281093_12844051050.0DomainNote=ATP-grasp 2
HgeneCPS1chr2:211477017chr2:206989000ENST00000451903+10281355_15004051050.0DomainMGS-like
HgeneCPS1chr2:211477017chr2:206989000ENST00000451903+1028551_7434051050.0DomainNote=ATP-grasp 1
TgeneNDUFS1chr2:211477017chr2:206989000ENST000002331901719108_147697728.0Domain4Fe-4S His(Cys)3-ligated-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000002331901719245_301697728.0Domain4Fe-4S Mo/W bis-MGD-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST00000233190171930_108697728.0Domain2Fe-2S ferredoxin-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004237251618108_147640671.0Domain4Fe-4S His(Cys)3-ligated-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004237251618245_301640671.0Domain4Fe-4S Mo/W bis-MGD-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST00000423725161830_108640671.0Domain2Fe-2S ferredoxin-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004321691416108_147586617.0Domain4Fe-4S His(Cys)3-ligated-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004321691416245_301586617.0Domain4Fe-4S Mo/W bis-MGD-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST00000432169141630_108586617.0Domain2Fe-2S ferredoxin-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004402741618108_147661692.0Domain4Fe-4S His(Cys)3-ligated-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004402741618245_301661692.0Domain4Fe-4S Mo/W bis-MGD-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST00000440274161830_108661692.0Domain2Fe-2S ferredoxin-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004496991719108_147697728.0Domain4Fe-4S His(Cys)3-ligated-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004496991719245_301697728.0Domain4Fe-4S Mo/W bis-MGD-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST00000449699171930_108697728.0Domain2Fe-2S ferredoxin-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004559341719108_147711742.0Domain4Fe-4S His(Cys)3-ligated-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST000004559341719245_301711742.0Domain4Fe-4S Mo/W bis-MGD-type
TgeneNDUFS1chr2:211477017chr2:206989000ENST00000455934171930_108711742.0Domain2Fe-2S ferredoxin-type


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Fusion Gene Sequence for CPS1-NDUFS1


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.
>19093_19093_1_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000423725_length(transcript)=3222nt_BP=2764nt
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
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACA
ATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTT
GCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTAAAAAAAAATAATAATAATTTGAATCATGT
AATATTTAAGGTTATACTATGCCTATTTGAAAATGATATTAGTTATCAACTTTGCAGTTTGAAAAACATGTATTGTGTGTAAAGGTTAAA
TAACAAAACTATGCAGATGCTCTTAAAAGCATTGATAACCTTTGTGACGAACATAAAGAGATCCTTAAATTATGAGTTGTTGGCTTATCT

>19093_19093_1_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000423725_length(amino acids)=879AA_BP=856
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ

--------------------------------------------------------------
>19093_19093_2_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000432169_length(transcript)=2940nt_BP=2764nt
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
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACA
ATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTT

>19093_19093_2_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000432169_length(amino acids)=879AA_BP=856
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ

--------------------------------------------------------------
>19093_19093_3_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000440274_length(transcript)=3085nt_BP=2764nt
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
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACA
ATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTT
GCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTAAAAAAAAATAATAATAATTTGAATCATGT
AATATTTAAGGTTATACTATGCCTATTTGAAAATGATATTAGTTATCAACTTTGCAGTTTGAAAAACATGTATTGTGTGTAAAGGTTAAA

>19093_19093_3_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000440274_length(amino acids)=879AA_BP=856
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ

--------------------------------------------------------------
>19093_19093_4_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000449699_length(transcript)=2940nt_BP=2764nt
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
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACA
ATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTT

>19093_19093_4_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000449699_length(amino acids)=879AA_BP=856
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ

--------------------------------------------------------------
>19093_19093_5_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000455934_length(transcript)=2942nt_BP=2764nt
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
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACA
ATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTT

>19093_19093_5_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000455934_length(amino acids)=879AA_BP=856
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ

--------------------------------------------------------------
>19093_19093_6_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000457011_length(transcript)=3096nt_BP=2764nt
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
TAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACA
ATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTT
GCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTAAAAAAAAATAATAATAATTTGAATCATGT
AATATTTAAGGTTATACTATGCCTATTTGAAAATGATATTAGTTATCAACTTTGCAGTTTGAAAAACATGTATTGTGTGTAAAGGTTAAA

>19093_19093_6_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000233072_NDUFS1_chr2_206989000_ENST00000457011_length(amino acids)=879AA_BP=856
MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAITDPAYK
GQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTML
GKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGGPGNPAL
AEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQT
NEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVK
AMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVES
IMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWK
EIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLS
RSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQ

--------------------------------------------------------------
>19093_19093_7_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000423725_length(transcript)=3099nt_BP=2641nt
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
AAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGT
GCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAG
TGATCCTTTACAGGTTTATTTCTTTGTAAAAAAAAATAATAATAATTTGAATCATGTAATATTTAAGGTTATACTATGCCTATTTGAAAA
TGATATTAGTTATCAACTTTGCAGTTTGAAAAACATGTATTGTGTGTAAAGGTTAAATAACAAAACTATGCAGATGCTCTTAAAAGCATT
GATAACCTTTGTGACGAACATAAAGAGATCCTTAAATTATGAGTTGTTGGCTTATCTTCATAAATAATTTGTCTGTAAAATGGATGAAAT

>19093_19093_7_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000423725_length(amino acids)=885AA_BP=862
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT

--------------------------------------------------------------
>19093_19093_8_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000432169_length(transcript)=2817nt_BP=2641nt
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
AAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGT
GCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAG

>19093_19093_8_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000432169_length(amino acids)=885AA_BP=862
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT

--------------------------------------------------------------
>19093_19093_9_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000440274_length(transcript)=2962nt_BP=2641nt
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
AAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGT
GCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAG
TGATCCTTTACAGGTTTATTTCTTTGTAAAAAAAAATAATAATAATTTGAATCATGTAATATTTAAGGTTATACTATGCCTATTTGAAAA

>19093_19093_9_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000440274_length(amino acids)=885AA_BP=862
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT

--------------------------------------------------------------
>19093_19093_10_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000449699_length(transcript)=2817nt_BP=2641nt
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
AAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGT
GCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAG

>19093_19093_10_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000449699_length(amino acids)=885AA_BP=862
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT

--------------------------------------------------------------
>19093_19093_11_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000455934_length(transcript)=2819nt_BP=2641nt
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
AAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGT
GCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAG

>19093_19093_11_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000455934_length(amino acids)=885AA_BP=862
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT

--------------------------------------------------------------
>19093_19093_12_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000457011_length(transcript)=2973nt_BP=2641nt
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
AAGCAGCACGCGTATCTATGCCATTGCCAAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGT
GCCCAGGCAGTAGAGGAACCATCCATATGCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAG
TGATCCTTTACAGGTTTATTTCTTTGTAAAAAAAAATAATAATAATTTGAATCATGTAATATTTAAGGTTATACTATGCCTATTTGAAAA
TGATATTAGTTATCAACTTTGCAGTTTGAAAAACATGTATTGTGTGTAAAGGTTAAATAACAAAACTATGCAGATGCTCTTAAAAGCATT

>19093_19093_12_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000430249_NDUFS1_chr2_206989000_ENST00000457011_length(amino acids)=885AA_BP=862
MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHPSSVAGEVVFNTGLGGYPEAI
TDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIR
DKGTMLGKIEFEGQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEYDGILIAGG
PGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFV
NVNDQTNEGIMHESKPFFAVQFHPEVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYS
GSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVL
GTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEK
SVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIE
VNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRT

--------------------------------------------------------------
>19093_19093_13_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000423725_length(transcript)=2171nt_BP=1713nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATAT
GCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTA
AAAAAAAATAATAATAATTTGAATCATGTAATATTTAAGGTTATACTATGCCTATTTGAAAATGATATTAGTTATCAACTTTGCAGTTTG
AAAAACATGTATTGTGTGTAAAGGTTAAATAACAAAACTATGCAGATGCTCTTAAAAGCATTGATAACCTTTGTGACGAACATAAAGAGA
TCCTTAAATTATGAGTTGTTGGCTTATCTTCATAAATAATTTGTCTGTAAAATGGATGAAATGAAAAGAGGTTCAATTAAAACCTACTTT

>19093_19093_13_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000423725_length(amino acids)=490AA_BP=467
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL

--------------------------------------------------------------
>19093_19093_14_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000432169_length(transcript)=1889nt_BP=1713nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATAT

>19093_19093_14_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000432169_length(amino acids)=490AA_BP=467
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL

--------------------------------------------------------------
>19093_19093_15_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000440274_length(transcript)=2034nt_BP=1713nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATAT
GCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTA
AAAAAAAATAATAATAATTTGAATCATGTAATATTTAAGGTTATACTATGCCTATTTGAAAATGATATTAGTTATCAACTTTGCAGTTTG

>19093_19093_15_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000440274_length(amino acids)=490AA_BP=467
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL

--------------------------------------------------------------
>19093_19093_16_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000449699_length(transcript)=1889nt_BP=1713nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATAT

>19093_19093_16_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000449699_length(amino acids)=490AA_BP=467
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL

--------------------------------------------------------------
>19093_19093_17_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000455934_length(transcript)=1891nt_BP=1713nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATAT
GCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTA

>19093_19093_17_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000455934_length(amino acids)=490AA_BP=467
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL

--------------------------------------------------------------
>19093_19093_18_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000457011_length(transcript)=2045nt_BP=1713nt
GAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGGGCATGCATGCACATACATAGATGATTCAGACGGCTTC
AGAAAAGAACCACAAGGAATGCTTAGAGGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTC
AAACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTTCCCCACACCCAGGGGCCTCCAGTAG
CAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACC
ATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATT
GGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAAC
ATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTC
ATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAAT
GAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATG
ATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCT
ATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTC
ACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCC
GAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCT
ACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCA
TTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGC
CTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTA
GGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCC
CGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCC
AAGATTCAATTAGCAGAGCCTCACAGACAATGGCCAAATGTGTCAAAGCTGTCACAGAGGGTGCCCAGGCAGTAGAGGAACCATCCATAT
GCTGAAGCTTCTACTAGGATCCCAGTTTTGCCGCAGATAATTAATGGACAACTGTAGTGCAGTGATCCTTTACAGGTTTATTTCTTTGTA
AAAAAAAATAATAATAATTTGAATCATGTAATATTTAAGGTTATACTATGCCTATTTGAAAATGATATTAGTTATCAACTTTGCAGTTTG

>19093_19093_18_CPS1-NDUFS1_CPS1_chr2_211477017_ENST00000451903_NDUFS1_chr2_206989000_ENST00000457011_length(amino acids)=490AA_BP=467
MFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQA
DTVYFLPITPQFVTEVIKAEQPDGLILGMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVES
IEDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDADDNCVTVCNMENVDAMGVH
TGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPE
IKNVVSGKTSACFEPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKEWPSNLDL

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

Top

Fusion Gene PPI Analysis for CPS1-NDUFS1


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-NDUFS1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCPS1P31327DB06775Carglumic acidAllosteric modulatorSmall moleculeApproved
TgeneNDUFS1P28331DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for CPS1-NDUFS1


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
TgeneC0023264Leigh Disease12CLINGEN;GENOMICS_ENGLAND
TgeneC1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY12CLINGEN
TgeneC1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency12CLINGEN
TgeneC1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency12CLINGEN
TgeneC1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency12CLINGEN
TgeneC1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency12CLINGEN
TgeneC2931891Necrotizing encephalopathy, infantile subacute, of Leigh12CLINGEN
TgeneC1838979MITOCHONDRIAL COMPLEX I DEFICIENCY5GENOMICS_ENGLAND;ORPHANET
TgeneC1656427Early onset schizophrenia2PSYGENET
TgeneC0007194Hypertrophic Cardiomyopathy1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0751651Mitochondrial Diseases1GENOMICS_ENGLAND
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC4551472Hypertrophic obstructive cardiomyopathy1CTD_human
TgeneC4748754MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 51GENOMICS_ENGLAND;UNIPROT