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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: 5610

FusionGeneSummary for CASP8_ALS2CR12

check button Fusion gene summary
Fusion gene informationFusion gene name: CASP8_ALS2CR12
Fusion gene ID: 5610
HgeneTgene
Gene symbol

CASP8

ALS2CR12

Gene ID

841

130540

Gene namecaspase 8amyotrophic lateral sclerosis 2 chromosome region 12
SynonymsALPS2B|CAP4|Casp-8|FLICE|MACH|MCH5-
Cytomap

2q33.1

2q33.1

Type of geneprotein-codingprotein-coding
Descriptioncaspase-8FADD-homologous ICE/CED-3-like proteaseFADD-like ICEICE-like apoptotic protease 5MACH-alpha-1/2/3 proteinMACH-beta-1/2/3/4 proteinMORT1-associated ced-3 homologapoptotic cysteine proteaseapoptotic protease Mch-5caspase 8, apoptosis-relatamyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12amyotrophic lateral sclerosis 2 chromosome region candidate 12
Modification date2018052320180519
UniProtAcc

Q14790

Q96Q35

Ensembl transtripts involved in fusion geneENST00000392259, ENST00000392266, 
ENST00000264274, ENST00000432109, 
ENST00000264275, ENST00000392258, 
ENST00000490682, ENST00000358485, 
ENST00000323492, 		ENST00000286190, 
ENST00000405148, ENST00000392257, 
ENST00000439709, ENST00000448967, 
Fusion gene scores* DoF score8 X 4 X 10=3206 X 4 X 4=96
# samples 106
** MAII scorelog2(10/320*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CASP8 [Title/Abstract] AND ALS2CR12 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
Tumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneCASP8

GO:0006508

proteolysis

12888622

HgeneCASP8

GO:0036462

TRAIL-activated apoptotic signaling pathway

21785459

HgeneCASP8

GO:0045862

positive regulation of proteolysis

18387192

HgeneCASP8

GO:0097191

extrinsic apoptotic signaling pathway

21785459

HgeneCASP8

GO:0097202

activation of cysteine-type endopeptidase activity

18387192


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
TCGALDBRCATCGA-BH-A18T-01ACASP8chr2

202131514

+ALS2CR12chr2

202195556

-
* 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
In-frameENST00000392259ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392259ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392259ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392259ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000392259ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392266ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392266ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392266ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392266ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000392266ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264274ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264274ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264274ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264274ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000264274ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000432109ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000432109ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000432109ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000432109ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000432109ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264275ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264275ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264275ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000264275ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000264275ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392258ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392258ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392258ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000392258ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000392258ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
intron-3CDSENST00000490682ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
intron-3CDSENST00000490682ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
intron-3CDSENST00000490682ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
intron-3CDSENST00000490682ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
intron-intronENST00000490682ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000358485ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000358485ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000358485ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000358485ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000358485ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000323492ENST00000286190CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000323492ENST00000405148CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000323492ENST00000392257CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
In-frameENST00000323492ENST00000439709CASP8chr2

202131514

+ALS2CR12chr2

202195556

-
5CDS-intronENST00000323492ENST00000448967CASP8chr2

202131514

+ALS2CR12chr2

202195556

-

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FusionProtFeatures for CASP8_ALS2CR12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CASP8

Q14790

ALS2CR12

Q96Q35


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
HgeneCASP8chr2:202131514chr2:202195556ENST00000264274+372_80101396DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000264275+3102_80101497DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000323492+282_80101465DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000358485+292_80160539DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000392258+382_80101224DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000392259+392_80101751DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000392266+382_80101736DomainDED 1
HgeneCASP8chr2:202131514chr2:202195556ENST00000432109+3102_80101480DomainDED 1
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000286190-514283_315174446Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000286190-514387_414174446Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000392257-615283_315174423Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000392257-615387_414174423Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000405148-615283_315174446Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000405148-615387_414174446Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000439709-615283_315174423Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000439709-615387_414174423Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCASP8chr2:202131514chr2:202195556ENST00000264274+37100_177101396DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000264275+310100_177101497DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000323492+28100_177101465DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000358485+29100_177160539DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000392258+38100_177101224DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000392259+39100_177101751DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000392266+38100_177101736DomainDED 2
HgeneCASP8chr2:202131514chr2:202195556ENST00000432109+310100_177101480DomainDED 2
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000286190-514122_226174446Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000392257-615122_226174423Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000405148-615122_226174446Coiled coilOntology_term=ECO:0000255
TgeneALS2CR12chr2:202131514chr2:202195556ENST00000439709-615122_226174423Coiled coilOntology_term=ECO:0000255


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FusionGeneSequence for CASP8_ALS2CR12


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 CASP8_ALS2CR12


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
CASP8TNFRSF10B, FADD, FASLG, BID, EZR, FAS, MAPK8, MSN, CASP10, RHOA, ARHGDIA, TNFRSF1A, RALBP1, TRADD, TRAF1, TRAF2, BIRC2, CFLAR, CASP8, CHD3, TFCP2, VIM, BCAP31, TNFRSF10A, APAF1, NR1H4, NOD1, PEA15, BCL2, HIP1, IFT57, CASP6, CASP3, CASP7, CASP9, CASP2, BCL2L1, XIAP, RIPK1, MAP3K14, CHUK, IKBKB, NOL3, DEDD2, DEDD, CASP4, CASP1, CASP8AP2, CASP14, TNFAIP3, HDAC7, FAF1, RALGDS, NLRC4, PTEN, KHDRBS1, MAP1LC3B, USP2, TSC22D3, MAP1LC3A, SQSTM1, TNFSF10, SORBS1, CEBPB, TRAF6, COPS6, CLIP3, BIRC6, BFAR, RNF34, MAPK1, TOPORS, TP53, LRRK2, FIS1, UBC, CUL3, CARD11, PARK7, RIPK3, RB1, PLA2G4B, PRKCI, SNRPD3, PDIA6, PLIN4, GZMB, HECTD3, CRYAB, TNF, PRDX6, BAX, ERLIN2, TICAM1, BIRC3, ATG4D, PARP1, AGR3, ANGPTL4, ATAD2, BAP1, BEX1, BLID, CASC3, CDH13, EPSTI1, ERRFI1, GLCE, GREB1, IL13RA2, IL24, KLK5, KLK9, LYPD3, PRDM14, PSMC3IP, S100A14, SCGB2A2, SERPINB5, ST14, PRSS50, VPS45, WHSC1L1, ATP1A3, BCL2L10, CNBP, HBP1, QDPR, SOX2, UMPS, YBX1, BLM, GMNN, MLKL, TLR3, OPTN, RYBP, CHEK1, CDK9, MTOR, VHL, CDKN1B, SERPINB9, MAPK14ALS2CR12SULT2B1, TCL1A, STK16, TXNDC5


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 CASP8_ALS2CR12


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 CASP8_ALS2CR12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCASP8C1458155Mammary Neoplasms3CTD_human
HgeneCASP8C0014859Esophageal Neoplasms2CTD_human
HgeneCASP8C0025202melanoma2CTD_human
HgeneCASP8C0001418Adenocarcinoma1CTD_human
HgeneCASP8C0005586Bipolar Disorder1PSYGENET
HgeneCASP8C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneCASP8C0007873Uterine Cervical Neoplasm1CTD_human
HgeneCASP8C0009404Colorectal Neoplasms1CTD_human
HgeneCASP8C0011616Contact Dermatitis1CTD_human
HgeneCASP8C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCASP8C0013604Edema1CTD_human
HgeneCASP8C0024121Lung Neoplasms1CTD_human
HgeneCASP8C0027055Myocardial Reperfusion Injury1CTD_human
HgeneCASP8C0035126Reperfusion Injury1CTD_human
HgeneCASP8C0037286Skin Neoplasms1CTD_human
HgeneCASP8C0038220Status Epilepticus1CTD_human
HgeneCASP8C0038356Stomach Neoplasms1CTD_human
HgeneCASP8C0162820Dermatitis, Allergic Contact1CTD_human
HgeneCASP8C0950124Papillomavirus Infections1CTD_human
HgeneCASP8C1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneCASP8C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1ORPHANET;UNIPROT
HgeneCASP8C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneCASP8C2937358Cerebral Hemorrhage1CTD_human