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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:SRSF1-SUCLG1 (FusionGDB2 ID:85989)

Fusion Gene Summary for SRSF1-SUCLG1

check button Fusion gene summary
Fusion gene informationFusion gene name: SRSF1-SUCLG1
Fusion gene ID: 85989
HgeneTgene
Gene symbol

SRSF1

SUCLG1

Gene ID

6426

8802

Gene nameserine and arginine rich splicing factor 1succinate-CoA ligase GDP/ADP-forming subunit alpha
SynonymsASF|SF2|SF2p33|SFRS1|SRp30aGALPHA|MTDPS9|SUCLA1
Cytomap

17q22

2p11.2

Type of geneprotein-codingprotein-coding
Descriptionserine/arginine-rich splicing factor 1SR splicing factor 1alternative-splicing factor 1pre-mRNA-splicing factor SF2, P33 subunitsplicing factor 2splicing factor, arginine/serine-rich, 30-KD, Asuccinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrialSCS-alphasuccinate-CoA ligase alpha subunitsuccinyl-CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrialsuccinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrialsuccinyl-Co
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000582730, ENST00000581497, 
ENST00000584773, ENST00000585096, 
ENST00000258962, 
ENST00000393868, 
ENST00000491123, 
Fusion gene scores* DoF score10 X 9 X 4=36010 X 9 X 6=540
# samples 1010
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/540*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SRSF1 [Title/Abstract] AND SUCLG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSRSF1(56083704)-SUCLG1(84658783), # samples:1
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
HgeneSRSF1

GO:0000380

alternative mRNA splicing, via spliceosome

8940107

HgeneSRSF1

GO:0000395

mRNA 5'-splice site recognition

8940107|9885563


check buttonFusion gene breakpoints across SRSF1 (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 SUCLG1 (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
ChimerDB4LIHCTCGA-FV-A4ZP-01ASRSF1chr17

56083704

-SUCLG1chr2

84658783

-


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Fusion Gene ORF analysis for SRSF1-SUCLG1

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-frameENST00000582730ENST00000393868SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
5CDS-5UTRENST00000582730ENST00000491123SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
intron-3CDSENST00000581497ENST00000393868SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
intron-5UTRENST00000581497ENST00000491123SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
In-frameENST00000584773ENST00000393868SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
5CDS-5UTRENST00000584773ENST00000491123SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
intron-3CDSENST00000585096ENST00000393868SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
intron-5UTRENST00000585096ENST00000491123SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
In-frameENST00000258962ENST00000393868SRSF1chr17

56083704

-SUCLG1chr2

84658783

-
5CDS-5UTRENST00000258962ENST00000491123SRSF1chr17

56083704

-SUCLG1chr2

84658783

-

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)
ENST00000582730SRSF1chr1756083704-ENST00000393868SUCLG1chr284658783-10945034870288
ENST00000584773SRSF1chr1756083704-ENST00000393868SUCLG1chr284658783-10945034870288
ENST00000258962SRSF1chr1756083704-ENST00000393868SUCLG1chr284658783-117958889955288

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
ENST00000582730ENST00000393868SRSF1chr1756083704-SUCLG1chr284658783-0.0025180590.997482
ENST00000584773ENST00000393868SRSF1chr1756083704-SUCLG1chr284658783-0.0025180590.997482
ENST00000258962ENST00000393868SRSF1chr1756083704-SUCLG1chr284658783-0.0028022130.99719775

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Fusion Genomic Features for SRSF1-SUCLG1


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 SRSF1-SUCLG1


check button Go to

FGviewer for the breakpoints of chr17:56083704-chr2:84658783

.
- 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
HgeneSRSF1chr17:56083704chr2:84658783ENST00000258962-2494_113126.33333333333333249.0Compositional biasNote=Gly-rich (hinge region)
HgeneSRSF1chr17:56083704chr2:84658783ENST00000582730-2394_113126.33333333333333202.0Compositional biasNote=Gly-rich (hinge region)
HgeneSRSF1chr17:56083704chr2:84658783ENST00000258962-2416_91126.33333333333333249.0DomainRRM 1
HgeneSRSF1chr17:56083704chr2:84658783ENST00000582730-2316_91126.33333333333333202.0DomainRRM 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSRSF1chr17:56083704chr2:84658783ENST00000258962-24198_247126.33333333333333249.0Compositional biasNote=Arg/Ser-rich (RS domain)
HgeneSRSF1chr17:56083704chr2:84658783ENST00000582730-23198_247126.33333333333333202.0Compositional biasNote=Arg/Ser-rich (RS domain)
HgeneSRSF1chr17:56083704chr2:84658783ENST00000258962-24121_195126.33333333333333249.0DomainRRM 2
HgeneSRSF1chr17:56083704chr2:84658783ENST00000582730-23121_195126.33333333333333202.0DomainRRM 2
TgeneSUCLG1chr17:56083704chr2:84658783ENST0000039386859143_145224.33333333333334347.0RegionCoenzyme A binding
TgeneSUCLG1chr17:56083704chr2:84658783ENST000003938685964_67224.33333333333334347.0RegionCoenzyme A binding


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Fusion Gene Sequence for SRSF1-SUCLG1


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_ENST00000582730_ENST00000393868_TCGA-FV-A4ZP-01A_SRSF1_chr17_56083704_-_SUCLG1_chr2_84658783_length(transcript)=1094nt_BP=503nt
CGAGCTGATAAAGGCGCCATTTTGGAGGGGCCGCGGGAGACGTGGTGCCGCTGCGGGCTCGCTCTGCCGTGCGCTAGGCTTGGTGGGAAG
GCCTGTTCTCGAGTCCGCGCTTTTCGTCACCGCCATGTCGGGAGGTGGTGTGATTCGTGGCCCCGCAGGGAACAACGATTGCCGCATCTA
CGTGGGTAACTTACCTCCAGACATCCGAACCAAGGACATTGAGGACGTGTTCTACAAATACGGCGCTATCCGCGACATCGACCTCAAGAA
TCGCCGCGGGGGACCGCCCTTCGCCTTCGTTGAGTTCGAGGACCCGCGAGACGCGGAAGACGCGGTGTATGGTCGCGACGGCTATGATTA
CGATGGGTACCGTCTGCGGGTGGAGTTTCCTCGAAGCGGCCGTGGAACAGGCCGAGGCGGCGGCGGGGGTGGAGGTGGCGGAGCTCCCCG
AGGTCGCTATGGCCCCCCATCCAGGCGGTCTGAAAACAGAGTGGTTGTCTCTGGCATTGGAGGTGATCCTTTTAATGGAACAGATTTTAT
TGACTGCCTCGAAATCTTTTTGAACGATTCTGCCACAGAAGGCATCATATTGATTGGTGAAATTGGTGGTAATGCAGAAGAGAATGCTGC
AGAATTTTTGAAGCAACATAATTCAGGTCCAAATTCCAAGCCTGTAGTGTCCTTCATTGCTGGTTTAACTGCTCCTCCTGGGAGAAGAAT
GGGTCATGCCGGGGCAATTATTGCTGGAGGAAAAGGTGGAGCTAAAGAGAAGATCTCTGCCCTTCAGAGTGCAGGAGTTGTGGTCAGTAT
GTCTCCTGCACAGCTGGGAACCACGATCTACAAGGAATTTGAAAAGAGGAAGATGCTATGAAAGAAAAAAAAAATTCCTAAAACTGTGGA
ATGGATCACGTAGACATGTAACCCAGCAGCAGTTTGCTTCTGTTGTCCACTGATTAATCAGCCTATGTGCCTGACACTGGTCTTGCAGTA
CAACTGGAAGCCAAAACAAGGTGGAAGATGTCCTGAATTAAGATGTTTTCACCACATTGTATTACAGAGACAGCCAATAAATCTACTATT

>In-frame_ENST00000582730_ENST00000393868_TCGA-FV-A4ZP-01A_SRSF1_chr17_56083704_-_SUCLG1_chr2_84658783_length(amino acids)=288AA_start in transcript=4_stop in transcript=870
MIKAPFWRGRGRRGAAAGSLCRALGLVGRPVLESALFVTAMSGGGVIRGPAGNNDCRIYVGNLPPDIRTKDIEDVFYKYGAIRDIDLKNR
RGGPPFAFVEFEDPRDAEDAVYGRDGYDYDGYRLRVEFPRSGRGTGRGGGGGGGGGAPRGRYGPPSRRSENRVVVSGIGGDPFNGTDFID
CLEIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSKPVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQSAGVVVSMS

--------------------------------------------------------------
>In-frame_ENST00000584773_ENST00000393868_TCGA-FV-A4ZP-01A_SRSF1_chr17_56083704_-_SUCLG1_chr2_84658783_length(transcript)=1094nt_BP=503nt
CGAGCTGATAAAGGCGCCATTTTGGAGGGGCCGCGGGAGACGTGGTGCCGCTGCGGGCTCGCTCTGCCGTGCGCTAGGCTTGGTGGGAAG
GCCTGTTCTCGAGTCCGCGCTTTTCGTCACCGCCATGTCGGGAGGTGGTGTGATTCGTGGCCCCGCAGGGAACAACGATTGCCGCATCTA
CGTGGGTAACTTACCTCCAGACATCCGAACCAAGGACATTGAGGACGTGTTCTACAAATACGGCGCTATCCGCGACATCGACCTCAAGAA
TCGCCGCGGGGGACCGCCCTTCGCCTTCGTTGAGTTCGAGGACCCGCGAGACGCGGAAGACGCGGTGTATGGTCGCGACGGCTATGATTA
CGATGGGTACCGTCTGCGGGTGGAGTTTCCTCGAAGCGGCCGTGGAACAGGCCGAGGCGGCGGCGGGGGTGGAGGTGGCGGAGCTCCCCG
AGGTCGCTATGGCCCCCCATCCAGGCGGTCTGAAAACAGAGTGGTTGTCTCTGGCATTGGAGGTGATCCTTTTAATGGAACAGATTTTAT
TGACTGCCTCGAAATCTTTTTGAACGATTCTGCCACAGAAGGCATCATATTGATTGGTGAAATTGGTGGTAATGCAGAAGAGAATGCTGC
AGAATTTTTGAAGCAACATAATTCAGGTCCAAATTCCAAGCCTGTAGTGTCCTTCATTGCTGGTTTAACTGCTCCTCCTGGGAGAAGAAT
GGGTCATGCCGGGGCAATTATTGCTGGAGGAAAAGGTGGAGCTAAAGAGAAGATCTCTGCCCTTCAGAGTGCAGGAGTTGTGGTCAGTAT
GTCTCCTGCACAGCTGGGAACCACGATCTACAAGGAATTTGAAAAGAGGAAGATGCTATGAAAGAAAAAAAAAATTCCTAAAACTGTGGA
ATGGATCACGTAGACATGTAACCCAGCAGCAGTTTGCTTCTGTTGTCCACTGATTAATCAGCCTATGTGCCTGACACTGGTCTTGCAGTA
CAACTGGAAGCCAAAACAAGGTGGAAGATGTCCTGAATTAAGATGTTTTCACCACATTGTATTACAGAGACAGCCAATAAATCTACTATT

>In-frame_ENST00000584773_ENST00000393868_TCGA-FV-A4ZP-01A_SRSF1_chr17_56083704_-_SUCLG1_chr2_84658783_length(amino acids)=288AA_start in transcript=4_stop in transcript=870
MIKAPFWRGRGRRGAAAGSLCRALGLVGRPVLESALFVTAMSGGGVIRGPAGNNDCRIYVGNLPPDIRTKDIEDVFYKYGAIRDIDLKNR
RGGPPFAFVEFEDPRDAEDAVYGRDGYDYDGYRLRVEFPRSGRGTGRGGGGGGGGGAPRGRYGPPSRRSENRVVVSGIGGDPFNGTDFID
CLEIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSKPVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQSAGVVVSMS

--------------------------------------------------------------
>In-frame_ENST00000258962_ENST00000393868_TCGA-FV-A4ZP-01A_SRSF1_chr17_56083704_-_SUCLG1_chr2_84658783_length(transcript)=1179nt_BP=588nt
GTTGCGCTCCCGCGCGTGCGTGTTGGGATCGAATCGCTGTTTCCTTCCGCTTCTCTTCCTCTGTCTCCCCCCCATATCCGTGCGCCGAGC
TGATAAAGGCGCCATTTTGGAGGGGCCGCGGGAGACGTGGTGCCGCTGCGGGCTCGCTCTGCCGTGCGCTAGGCTTGGTGGGAAGGCCTG
TTCTCGAGTCCGCGCTTTTCGTCACCGCCATGTCGGGAGGTGGTGTGATTCGTGGCCCCGCAGGGAACAACGATTGCCGCATCTACGTGG
GTAACTTACCTCCAGACATCCGAACCAAGGACATTGAGGACGTGTTCTACAAATACGGCGCTATCCGCGACATCGACCTCAAGAATCGCC
GCGGGGGACCGCCCTTCGCCTTCGTTGAGTTCGAGGACCCGCGAGACGCGGAAGACGCGGTGTATGGTCGCGACGGCTATGATTACGATG
GGTACCGTCTGCGGGTGGAGTTTCCTCGAAGCGGCCGTGGAACAGGCCGAGGCGGCGGCGGGGGTGGAGGTGGCGGAGCTCCCCGAGGTC
GCTATGGCCCCCCATCCAGGCGGTCTGAAAACAGAGTGGTTGTCTCTGGCATTGGAGGTGATCCTTTTAATGGAACAGATTTTATTGACT
GCCTCGAAATCTTTTTGAACGATTCTGCCACAGAAGGCATCATATTGATTGGTGAAATTGGTGGTAATGCAGAAGAGAATGCTGCAGAAT
TTTTGAAGCAACATAATTCAGGTCCAAATTCCAAGCCTGTAGTGTCCTTCATTGCTGGTTTAACTGCTCCTCCTGGGAGAAGAATGGGTC
ATGCCGGGGCAATTATTGCTGGAGGAAAAGGTGGAGCTAAAGAGAAGATCTCTGCCCTTCAGAGTGCAGGAGTTGTGGTCAGTATGTCTC
CTGCACAGCTGGGAACCACGATCTACAAGGAATTTGAAAAGAGGAAGATGCTATGAAAGAAAAAAAAAATTCCTAAAACTGTGGAATGGA
TCACGTAGACATGTAACCCAGCAGCAGTTTGCTTCTGTTGTCCACTGATTAATCAGCCTATGTGCCTGACACTGGTCTTGCAGTACAACT
GGAAGCCAAAACAAGGTGGAAGATGTCCTGAATTAAGATGTTTTCACCACATTGTATTACAGAGACAGCCAATAAATCTACTATTTGATT

>In-frame_ENST00000258962_ENST00000393868_TCGA-FV-A4ZP-01A_SRSF1_chr17_56083704_-_SUCLG1_chr2_84658783_length(amino acids)=288AA_start in transcript=89_stop in transcript=955
MIKAPFWRGRGRRGAAAGSLCRALGLVGRPVLESALFVTAMSGGGVIRGPAGNNDCRIYVGNLPPDIRTKDIEDVFYKYGAIRDIDLKNR
RGGPPFAFVEFEDPRDAEDAVYGRDGYDYDGYRLRVEFPRSGRGTGRGGGGGGGGGAPRGRYGPPSRRSENRVVVSGIGGDPFNGTDFID
CLEIFLNDSATEGIILIGEIGGNAEENAAEFLKQHNSGPNSKPVVSFIAGLTAPPGRRMGHAGAIIAGGKGGAKEKISALQSAGVVVSMS

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Fusion Gene PPI Analysis for SRSF1-SUCLG1


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 SRSF1-SUCLG1


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 SRSF1-SUCLG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSRSF1C0019693HIV Infections1CTD_human
HgeneSRSF1C0027627Neoplasm Metastasis1CTD_human
HgeneSRSF1C0036341Schizophrenia1CTD_human
HgeneSRSF1C4505456HIV Coinfection1CTD_human
TgeneSUCLG1C0023264Leigh Disease9CLINGEN
TgeneSUCLG1C1838951LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY9CLINGEN
TgeneSUCLG1C1850597Leigh Syndrome Due To Mitochondrial Complex II Deficiency9CLINGEN
TgeneSUCLG1C1850598Leigh Syndrome due to Mitochondrial Complex III Deficiency9CLINGEN
TgeneSUCLG1C1850599Leigh Syndrome due to Mitochondrial Complex IV Deficiency9CLINGEN
TgeneSUCLG1C1850600Leigh Syndrome due to Mitochondrial Complex V Deficiency9CLINGEN
TgeneSUCLG1C2931891Necrotizing encephalopathy, infantile subacute, of Leigh9CLINGEN
TgeneSUCLG1C3151476MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSUCLG1C0024623Malignant neoplasm of stomach1CTD_human
TgeneSUCLG1C0038356Stomach Neoplasms1CTD_human
TgeneSUCLG1C0235874Disease Exacerbation1CTD_human
TgeneSUCLG1C1708349Hereditary Diffuse Gastric Cancer1CTD_human