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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: 7666

FusionGeneSummary for CNN1_CBS

check button Fusion gene summary
Fusion gene informationFusion gene name: CNN1_CBS
Fusion gene ID: 7666
HgeneTgene
Gene symbol

CNN1

CBS

Gene ID

1264

875

Gene namecalponin 1cystathionine-beta-synthase
SynonymsHEL-S-14|SMCC|Sm-CalpHIP4
Cytomap

19p13.2

21q22.3

Type of geneprotein-codingprotein-coding
Descriptioncalponin-1basic calponincalponin 1, basic, smooth musclecalponin H1, smooth musclecalponins, basicepididymis secretory protein Li 14cystathionine beta-synthasebeta-thionasemethylcysteine synthaseserine sulfhydrase
Modification date2018051920180523
UniProtAcc

P51911

P35520

Ensembl transtripts involved in fusion geneENST00000252456, ENST00000592923, 
ENST00000535659, ENST00000588468, 
ENST00000544952, 		ENST00000398158, 
ENST00000398165, ENST00000359624, 
ENST00000352178, ENST00000398168, 
ENST00000544202, ENST00000470912, 
Fusion gene scores* DoF score6 X 4 X 3=7213 X 4 X 8=416
# samples 611
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/416*10)=-1.91908000461643
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNN1 [Title/Abstract] AND CBS [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
TgeneCBS

GO:0006563

L-serine metabolic process

19010420

TgeneCBS

GO:0006565

L-serine catabolic process

18776696

TgeneCBS

GO:0019344

cysteine biosynthetic process

24416422

TgeneCBS

GO:0019448

L-cysteine catabolic process

15520012

TgeneCBS

GO:0043418

homocysteine catabolic process

18776696|24416422

TgeneCBS

GO:0050667

homocysteine metabolic process

19010420|20031578|23981774

TgeneCBS

GO:0070814

hydrogen sulfide biosynthetic process

15520012|24416422


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-DX-A6BA-01ACNN1chr19

11661138

+CBSchr21

44476011

-
* 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
5CDS-intronENST00000252456ENST00000398158CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000252456ENST00000398165CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000252456ENST00000359624CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000252456ENST00000352178CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000252456ENST00000398168CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000252456ENST00000544202CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000252456ENST00000470912CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000398158CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000398165CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000359624CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000352178CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000398168CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000544202CNN1chr19

11661138

+CBSchr21

44476011

-
5CDS-intronENST00000592923ENST00000470912CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000398158CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000398165CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000359624CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000352178CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000398168CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000544202CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000535659ENST00000470912CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000398158CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000398165CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000359624CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000352178CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000398168CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000544202CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000588468ENST00000470912CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000398158CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000398165CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000359624CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000352178CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000398168CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000544202CNN1chr19

11661138

+CBSchr21

44476011

-
intron-intronENST00000544952ENST00000470912CNN1chr19

11661138

+CBSchr21

44476011

-

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FusionProtFeatures for CNN1_CBS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNN1

P51911

CBS

P35520

Thin filament-associated protein that is implicated inthe regulation and modulation of smooth muscle contraction. It iscapable of binding to actin, calmodulin, troponin C andtropomyosin. The interaction of calponin with actin inhibits theactomyosin Mg-ATPase activity (By similarity). {ECO:0000250}. Hydro-lyase catalyzing the first step of thetranssulfuration pathway, where the hydroxyl group of L-serine isdisplaced by L-homocysteine in a beta-replacement reaction to formL-cystathionine, the precursor of L-cysteine. This catabolic routeallows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653).Also involved in the production of hydrogen sulfide, agasotransmitter with signaling and cytoprotective effects onneurons (By similarity). {ECO:0000250|UniProtKB:P32232,ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653,ECO:0000269|PubMed:23981774}.

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 CNN1_CBS


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 CNN1_CBS


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
CNN1TPM1, ACTA1, CALM1, MYO1A, TNNC1, DNMBP, TUBB, ADRB2, MTHFD1, MTHFD1L, MYEOV, RNF150CBSVTA1, FXR2, HID1, CBS, HGS, UBC, PRKAR1A, CDK2, COL4A3BP, GPSM1, DAXX, UGP2, C14orf142, DBNL, DERA, NPLOC4, NUCB1, PKM, PLIN3, ERO1L, GOPC, GPN1, HSF1, IPO4, IREB2, LRSAM1, PARP6, PDLIM5, RAD23B, SRP14, UBA2, UBA5, PIAS1, PIAS3, UBE2I, RANBP9, CBX4, EHHADH, PIN1, PRKAG1, PSMA1, UBASH3A, ZDHHC17, AP1B1, CARS, ABAT, ASNS, EEF1A1, ENOPH1, OAT, RSU1, RTFDC1, SKIV2L, VBP1, CTH, HSPE1, IARS, NMD3, QARS, SEC24B, SEC31A, UBE3B, NTRK1, NF2, OTUB1, PTPRR, NEK7, PA2G4, TRAP1, UBE2N


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 CNN1_CBS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCBSP35520DB00114Pyridoxal PhosphateCystathionine beta-synthase {ECO:0000305}small moleculeapproved|investigational|nutraceutical
TgeneCBSP35520DB00118AdemetionineCystathionine beta-synthase {ECO:0000305}small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for CNN1_CBS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCBSC0751202Cystathionine beta-Synthase Deficiency Disease29ORPHANET;UNIPROT
TgeneCBSC0598608Hyperhomocysteinemia3CTD_human
TgeneCBSC0005586Bipolar Disorder1PSYGENET
TgeneCBSC0007222Cardiovascular Diseases1CTD_human
TgeneCBSC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneCBSC0020538Hypertensive disease1CTD_human;HPO
TgeneCBSC0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneCBSC0036341Schizophrenia1PSYGENET
TgeneCBSC0162429Malnutrition1CTD_human
TgeneCBSC0338715Drug-induced depressive state1PSYGENET