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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 32846

FusionGeneSummary for SCMH1_CASP9

check button Fusion gene summary
Fusion gene informationFusion gene name: SCMH1_CASP9
Fusion gene ID: 32846
HgeneTgene
Gene symbol

SCMH1

CASP9

Gene ID

22955

842

Gene nameScm polycomb group protein homolog 1caspase 9
SynonymsScml3APAF-3|APAF3|ICE-LAP6|MCH6|PPP1R56
Cytomap

1p34.2

1p36.21

Type of geneprotein-codingprotein-coding
Descriptionpolycomb protein SCMH1sex comb on midleg homolog 1caspase-9ICE-like apoptotic protease 6apoptotic protease MCH-6apoptotic protease activating factor 3caspase 9, apoptosis-related cysteine peptidaseprotein phosphatase 1, regulatory subunit 56
Modification date2018051920180523
UniProtAcc

Q96GD3

P55211

Ensembl transtripts involved in fusion geneENST00000456518, ENST00000397174, 
ENST00000402904, ENST00000361191, 
ENST00000397171, ENST00000361705, 
ENST00000326197, ENST00000372595, 
ENST00000337495, ENST00000372596, 
ENST00000372597, ENST00000472037, 
ENST00000546424, ENST00000333868, 
ENST00000348549, ENST00000375890, 
ENST00000469637, 
Fusion gene scores* DoF score16 X 9 X 10=14401 X 1 X 1=1
# samples 161
** MAII scorelog2(16/1440*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SCMH1 [Title/Abstract] AND CASP9 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneCASP9

GO:0006974

cellular response to DNA damage stimulus

15657060

TgeneCASP9

GO:0034644

cellular response to UV

15657060

TgeneCASP9

GO:0042770

signal transduction in response to DNA damage

15657060


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSARCTCGA-K1-A3PO-01ASCMH1chr1

41707731

-CASP9chr1

15844890

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000456518ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000456518ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000456518ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000456518ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000456518ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000397174ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000397174ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000397174ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000397174ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000397174ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000402904ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000402904ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000402904ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000402904ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000402904ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000361191ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000361191ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000361191ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000361191ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000361191ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000397171ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000397171ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000397171ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000397171ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000397171ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000361705ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000361705ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000361705ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000361705ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000361705ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000326197ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000326197ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000326197ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000326197ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000326197ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000372595ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000372595ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000372595ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000372595ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000372595ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000337495ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000337495ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000337495ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-5UTRENST00000337495ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-5UTRENST00000337495ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000372596ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000372596ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000372596ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-5UTRENST00000372596ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-5UTRENST00000372596ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000372597ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000372597ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-3CDSENST00000372597ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-5UTRENST00000372597ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
5UTR-5UTRENST00000372597ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000472037ENST00000546424SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000472037ENST00000333868SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-3CDSENST00000472037ENST00000348549SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000472037ENST00000375890SCMH1chr1

41707731

-CASP9chr1

15844890

-
intron-5UTRENST00000472037ENST00000469637SCMH1chr1

41707731

-CASP9chr1

15844890

-

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FusionProtFeatures for SCMH1_CASP9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SCMH1

Q96GD3

CASP9

P55211

Associates with Polycomb group (PcG) multiproteincomplexes; the complex class is required to maintain thetranscriptionally repressive state of some genes. {ECO:0000250}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SCMH1_CASP9


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SCMH1_CASP9


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
SCMH1POLR2M, LYPLA2, SCMH1, TOB1, MOB4, PHC2, EWSR1, PCBD1, LZTR1, MAML3, PCGF2, BMI1, RNF2, PHC1, PHC3, CBX4, UBQLN4, MAGEA12, UBQLN1, CDC42, ZWINT, ACTBL2, ACTA2, PGK2, GNB2CASP9XIAP, NAIP, APAF1, MAPK1, BIRC2, BIRC3, DCC, NLRP1, BCL2L1, NOD1, BIRC7, BIRC8, CASP8, CASP2, CASP10, BIRC5, RNF2, BIRC6, CASP3, VCP, RB1, BRCA1, MSTO1, HSD17B4, JUN, CASP7, SQSTM1, CRYAB, PTCH1, ABL1, BAX, RNF34, CASP12, CYCS


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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RelatedDrugs for SCMH1_CASP9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SCMH1_CASP9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCASP9C0007786Brain Ischemia1CTD_human
TgeneCASP9C0007787Transient Ischemic Attack1CTD_human
TgeneCASP9C0013604Edema1CTD_human
TgeneCASP9C0027055Myocardial Reperfusion Injury1CTD_human
TgeneCASP9C0027765nervous system disorder1CTD_human
TgeneCASP9C0031117Peripheral Neuropathy1CTD_human
TgeneCASP9C0033578Prostatic Neoplasms1CTD_human
TgeneCASP9C0035305Retinal Detachment1CTD_human