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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: 17714

FusionGeneSummary for IREB2_CTSH

check button Fusion gene summary
Fusion gene informationFusion gene name: IREB2_CTSH
Fusion gene ID: 17714
HgeneTgene
Gene symbol

IREB2

CTSH

Gene ID

3658

1512

Gene nameiron responsive element binding protein 2cathepsin H
SynonymsACO3|IRE-BP 2|IRE-BP2|IRP2|IRP2ADACC-4|ACC-5|ACC4|ACC5|CPSB
Cytomap

15q25.1

15q25.1

Type of geneprotein-codingprotein-coding
Descriptioniron-responsive element-binding protein 2iron regulatory protein 2pro-cathepsin HN-benzoylarginine-beta-naphthylamide hydrolasealeuraincathepsin B3cathepsin BA
Modification date2018051920180523
UniProtAcc

P48200

P09668

Ensembl transtripts involved in fusion geneENST00000258886, ENST00000560440, 
ENST00000559427, 
ENST00000220166, 
ENST00000534533, 
Fusion gene scores* DoF score5 X 3 X 3=453 X 2 X 3=18
# samples 63
** MAII scorelog2(6/45*10)=0.415037499278844
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IREB2 [Title/Abstract] AND CTSH [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
TgeneCTSH

GO:0002764

immune response-regulating signaling pathway

16822283

TgeneCTSH

GO:0006508

proteolysis

6203523|8811434

TgeneCTSH

GO:0010628

positive regulation of gene expression

21217776

TgeneCTSH

GO:0010813

neuropeptide catabolic process

15127951

TgeneCTSH

GO:0010815

bradykinin catabolic process

15127951

TgeneCTSH

GO:0010952

positive regulation of peptidase activity

20435891

TgeneCTSH

GO:0030335

positive regulation of cell migration

21217776

TgeneCTSH

GO:0031638

zymogen activation

20435891

TgeneCTSH

GO:0033619

membrane protein proteolysis

14766755

TgeneCTSH

GO:0043129

surfactant homeostasis

18216060

TgeneCTSH

GO:0070371

ERK1 and ERK2 cascade

21217776


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
TCGARVPRADTCGA-J4-AATZ-01AIREB2chr15

78732223

+CTSHchr15

79231513

-
* 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-frameENST00000258886ENST00000220166IREB2chr15

78732223

+CTSHchr15

79231513

-
5CDS-intronENST00000258886ENST00000534533IREB2chr15

78732223

+CTSHchr15

79231513

-
In-frameENST00000560440ENST00000220166IREB2chr15

78732223

+CTSHchr15

79231513

-
5CDS-intronENST00000560440ENST00000534533IREB2chr15

78732223

+CTSHchr15

79231513

-
intron-3CDSENST00000559427ENST00000220166IREB2chr15

78732223

+CTSHchr15

79231513

-
intron-intronENST00000559427ENST00000534533IREB2chr15

78732223

+CTSHchr15

79231513

-

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FusionProtFeatures for IREB2_CTSH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IREB2

P48200

CTSH

P09668

Important for the overall degradation of proteins inlysosomes.

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 IREB2_CTSH


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.
>In-frame_IREB2_ENST00000258886_chr15_78732223_+_CTSH_ENST00000220166_chr15_79231513_-_341aa
MDAPKAGYAFEYLIETLNDSSHKKFFDVSKLGTKYEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDM
SFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQD
FNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTG

>In-frame_IREB2_ENST00000560440_chr15_78732223_+_CTSH_ENST00000220166_chr15_79231513_-_341aa
MDAPKAGYAFEYLIETLNDSSHKKFFDVSKLGTKYEKFHFKSWMSKHRKTYSTEEYHHRLQTFASNWRKINAHNNGNHTFKMALNQFSDM
SFAEIKHKYLWSEPQNCSATKSNYLRGTGPYPPSVDWRKKGNFVSPVKNQGACGSCWTFSTTGALESAIAIATGKMLSLAEQQLVDCAQD
FNNHGCQGGLPSQAFEYILYNKGIMGEDTYPYQGKDGYCKFQPGKAIGFVKDVANITIYDEEAMVEAVALYNPVSFAFEVTQDFMMYRTG


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_IREB2_ENST00000258886_chr15_78732223_+_CTSH_ENST00000220166_chr15_79231513_-_1023nt
ATGGACGCCCCAAAAGCAGGATACGCCTTTGAGTACCTTATTGAAACATTAAATGACAGTTCACATAAGAAGTTCTTCGATGTATCTAAA
CTTGGCACCAAGTATGAGAAGTTTCACTTCAAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTG
CAGACGTTTGCCAGCAACTGGAGGAAGATAAACGCCCACAACAATGGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATG
AGCTTTGCTGAAATAAAACACAAGTATCTCTGGTCAGAGCCTCAGAATTGCTCAGCCACCAAAAGTAACTACCTTCGAGGTACTGGTCCC
TACCCACCTTCCGTGGACTGGCGGAAAAAAGGAAATTTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGTTGCTGGACTTTCTCC
ACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGAC
TTCAATAATCACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTAC
CCCTACCAGGGCAAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATGAC
GAGGAAGCGATGGTGGAGGCTGTGGCCCTCTACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACCGGC
ATCTACTCCAGTACTTCCTGCCATAAAACTCCAGATAAAGTAAACCATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCT
TACTGGATCGTGAAAAACTCTTGGGGTCCCCAGTGGGGAATGAACGGGTACTTCCTCATCGAGCGCGGAAAGAACATGTGTGGCCTGGCT

>In-frame_IREB2_ENST00000560440_chr15_78732223_+_CTSH_ENST00000220166_chr15_79231513_-_1023nt
ATGGACGCCCCAAAAGCAGGATACGCCTTTGAGTACCTTATTGAAACATTAAATGACAGTTCACATAAGAAGTTCTTCGATGTATCTAAA
CTTGGCACCAAGTATGAGAAGTTTCACTTCAAGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTG
CAGACGTTTGCCAGCAACTGGAGGAAGATAAACGCCCACAACAATGGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATG
AGCTTTGCTGAAATAAAACACAAGTATCTCTGGTCAGAGCCTCAGAATTGCTCAGCCACCAAAAGTAACTACCTTCGAGGTACTGGTCCC
TACCCACCTTCCGTGGACTGGCGGAAAAAAGGAAATTTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGTTGCTGGACTTTCTCC
ACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGAC
TTCAATAATCACGGCTGCCAAGGGGGTCTCCCCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTAC
CCCTACCAGGGCAAGGATGGTTATTGCAAGTTCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATGAC
GAGGAAGCGATGGTGGAGGCTGTGGCCCTCTACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACCGGC
ATCTACTCCAGTACTTCCTGCCATAAAACTCCAGATAAAGTAAACCATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCT
TACTGGATCGTGAAAAACTCTTGGGGTCCCCAGTGGGGAATGAACGGGTACTTCCTCATCGAGCGCGGAAAGAACATGTGTGGCCTGGCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_IREB2_ENST00000258886_chr15_78732223_+_CTSH_ENST00000220166_chr15_79231513_-_2244nt
GCTCTGCTGCTCTCGCGATATTTGCGCGAGCCTGCTTCCTTCTTTCCTCCCTTGCCAGTCCGCCTGTCTTCCTCCCCGTCTTCCCTGCCC
GGCCTCCCCCTTCTTCCCCCGCTGGCCCCCTCCCCGGAGGGATAATATGGTCTCCGGCGATGGACGCCCCAAAAGCAGGATACGCCTTTG
AGTACCTTATTGAAACATTAAATGACAGTTCACATAAGAAGTTCTTCGATGTATCTAAACTTGGCACCAAGTATGAGAAGTTTCACTTCA
AGTCATGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCAGACGTTTGCCAGCAACTGGAGGAAGATAA
ACGCCCACAACAATGGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATGAGCTTTGCTGAAATAAAACACAAGTATCTCT
GGTCAGAGCCTCAGAATTGCTCAGCCACCAAAAGTAACTACCTTCGAGGTACTGGTCCCTACCCACCTTCCGTGGACTGGCGGAAAAAAG
GAAATTTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGTTGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGCGATCGCCA
TCGCAACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGACTTCAATAATCACGGCTGCCAAGGGGGTCTCC
CCAGCCAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTACCCCTACCAGGGCAAGGATGGTTATTGCAAGT
TCCAACCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATGACGAGGAAGCGATGGTGGAGGCTGTGGCCCTCT
ACAACCCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACCGGCATCTACTCCAGTACTTCCTGCCATAAAACTC
CAGATAAAGTAAACCATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCTTACTGGATCGTGAAAAACTCTTGGGGTCCCC
AGTGGGGAATGAACGGGTACTTCCTCATCGAGCGCGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGGTGT
GAGCCGTGGCAGCCGCAGCGCAGACTGGCGGAGAAGGAGAGGAACGGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGAGGAAGTTGT
GGGGAGATCCACTGGGACCCCCAACATTCTGCCCTCACCTCTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCCACCATGAGCT
CACCCGTGTCTATGACGCAAAGATCACCAGCCATGTGCCTTAGTGTCCTTCTTAACAGACTCAAACCACATGGACCACGAATATTCTTTC
TGTCCAGAAGGGCTACTTTCCACATATAGAGCTCCAGGGACTGTCTTTTCTGTATTCGCTGTTCAATAAACATTGAGTGAGCACCTCCCC
AGATGGAGCATGCTGGTCCTGGGCCATGACTCAAACCAGGTCTGTCCTCGCCACTCAGTCTCCCAGGAGGGAGGCATCAGGGGGTGTCCA
GGCTCTGGCTGGGAGGATGGTGGGGGTGCTGGCGGTATTATCCACCAGATGGGGTATCCAGGATGAAGAGCAGGCTTAATTTGAGATCTT
GACTATTTGTCCCAAACCTGAGTGGAGAGGTGGGGAGGAAGGAGAAAAACGGGCCAAGCTGCGGCAGAGGCAGGATTCAAACCCACAATG
TCAGCCCAGAAGCCTGTACTTCTCTGTGTGGCCTCCCCAGTCTCAGCTGCCTACTCCTACTCAGACTCTGCCCCCCACCTCCACATGAGA
CTGCCCACCCCTTCCTCACCAACCCCTTATTTATTTCAAACGTGCCCAGATGCTCCTGTCGTTTCCACACCATCCCTTCCCTTATCTTGC
CTTTTGAGAAATCTTGATCTCTGTTTAGAGGGCGGCCATGAAGTTGCTGCTGCTTCCTGAAGCCTCCGGGCTCTGGGATGTCTGTAGAAC
AAGCTGGAGTCCACCAGCTCTTTGTCCTATGGCTCACAGACTTTCTTAATGATAAAAGCTGTCATCTTATTTGGGCTTCCTGAAAAGCTA

>In-frame_IREB2_ENST00000560440_chr15_78732223_+_CTSH_ENST00000220166_chr15_79231513_-_2149nt
CCCCCTTCTTCCCCCGCTGGCCCCCTCCCCGGAGGGATAATATGGTCTCCGGCGATGGACGCCCCAAAAGCAGGATACGCCTTTGAGTAC
CTTATTGAAACATTAAATGACAGTTCACATAAGAAGTTCTTCGATGTATCTAAACTTGGCACCAAGTATGAGAAGTTTCACTTCAAGTCA
TGGATGTCTAAGCACCGTAAGACCTACAGTACGGAGGAGTACCACCACAGGCTGCAGACGTTTGCCAGCAACTGGAGGAAGATAAACGCC
CACAACAATGGGAACCACACATTTAAAATGGCACTGAACCAATTTTCAGACATGAGCTTTGCTGAAATAAAACACAAGTATCTCTGGTCA
GAGCCTCAGAATTGCTCAGCCACCAAAAGTAACTACCTTCGAGGTACTGGTCCCTACCCACCTTCCGTGGACTGGCGGAAAAAAGGAAAT
TTTGTCTCACCTGTGAAAAATCAGGGTGCCTGCGGCAGTTGCTGGACTTTCTCCACCACTGGGGCCCTGGAGTCTGCGATCGCCATCGCA
ACCGGAAAGATGCTGTCCTTGGCGGAACAGCAGCTGGTGGACTGCGCCCAGGACTTCAATAATCACGGCTGCCAAGGGGGTCTCCCCAGC
CAGGCTTTCGAGTATATCCTGTACAACAAGGGGATCATGGGTGAAGACACCTACCCCTACCAGGGCAAGGATGGTTATTGCAAGTTCCAA
CCTGGAAAGGCCATCGGCTTTGTCAAGGATGTAGCCAACATCACAATCTATGACGAGGAAGCGATGGTGGAGGCTGTGGCCCTCTACAAC
CCTGTGAGCTTTGCCTTTGAGGTGACTCAGGACTTCATGATGTATAGAACCGGCATCTACTCCAGTACTTCCTGCCATAAAACTCCAGAT
AAAGTAAACCATGCAGTACTGGCTGTTGGGTATGGAGAAAAAAATGGGATCCCTTACTGGATCGTGAAAAACTCTTGGGGTCCCCAGTGG
GGAATGAACGGGTACTTCCTCATCGAGCGCGGAAAGAACATGTGTGGCCTGGCTGCCTGCGCCTCCTACCCCATCCCTCTGGTGTGAGCC
GTGGCAGCCGCAGCGCAGACTGGCGGAGAAGGAGAGGAACGGGCAGCCTGGGCCTGGGTGGAAATCCTGCCCTGGAGGAAGTTGTGGGGA
GATCCACTGGGACCCCCAACATTCTGCCCTCACCTCTGTGCCCAGCCTGGAAACCTACAGACAAGGAGGAGTTCCACCATGAGCTCACCC
GTGTCTATGACGCAAAGATCACCAGCCATGTGCCTTAGTGTCCTTCTTAACAGACTCAAACCACATGGACCACGAATATTCTTTCTGTCC
AGAAGGGCTACTTTCCACATATAGAGCTCCAGGGACTGTCTTTTCTGTATTCGCTGTTCAATAAACATTGAGTGAGCACCTCCCCAGATG
GAGCATGCTGGTCCTGGGCCATGACTCAAACCAGGTCTGTCCTCGCCACTCAGTCTCCCAGGAGGGAGGCATCAGGGGGTGTCCAGGCTC
TGGCTGGGAGGATGGTGGGGGTGCTGGCGGTATTATCCACCAGATGGGGTATCCAGGATGAAGAGCAGGCTTAATTTGAGATCTTGACTA
TTTGTCCCAAACCTGAGTGGAGAGGTGGGGAGGAAGGAGAAAAACGGGCCAAGCTGCGGCAGAGGCAGGATTCAAACCCACAATGTCAGC
CCAGAAGCCTGTACTTCTCTGTGTGGCCTCCCCAGTCTCAGCTGCCTACTCCTACTCAGACTCTGCCCCCCACCTCCACATGAGACTGCC
CACCCCTTCCTCACCAACCCCTTATTTATTTCAAACGTGCCCAGATGCTCCTGTCGTTTCCACACCATCCCTTCCCTTATCTTGCCTTTT
GAGAAATCTTGATCTCTGTTTAGAGGGCGGCCATGAAGTTGCTGCTGCTTCCTGAAGCCTCCGGGCTCTGGGATGTCTGTAGAACAAGCT
GGAGTCCACCAGCTCTTTGTCCTATGGCTCACAGACTTTCTTAATGATAAAAGCTGTCATCTTATTTGGGCTTCCTGAAAAGCTAAAGGC


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FusionGenePPI for IREB2_CTSH


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
IREB2YBX1, VHL, RBCK1, FBXL5, PSMA3, APP, TERT, USP53, CBS, TNPO1, UBA2, FAM96A, FAM96B, CIAO1, CAMKMT, CCNL2, INSL3, SLC9A3R1, SF1, KRAS, ARL15, ELAVL2, ENSA, ALDH3B1CTSHCSTA, CSTB, XRN1, SLC25A41, TCTN3, CTSL, MMRN1, CST1, ZIC1, AIRE, SLCO6A1, TBC1D22B, POC5, SF3A1, CCDC103, NONO, BPNT1, HSPD1


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 IREB2_CTSH


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 IREB2_CTSH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIREB2C0027626Neoplasm Invasiveness1CTD_human
TgeneCTSHC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneCTSHC0023467Leukemia, Myelocytic, Acute1CTD_human