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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: 33324

FusionGeneSummary for SERPING1_CHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SERPING1_CHD1
Fusion gene ID: 33324
HgeneTgene
Gene symbol

SERPING1

CHD1

Gene ID

710

1105

Gene nameserpin family G member 1chromodomain helicase DNA binding protein 1
SynonymsC1IN|C1INH|C1NH|HAE1|HAE2PILBOS
Cytomap

11q12.1

5q15-q21.1

Type of geneprotein-codingprotein-coding
Descriptionplasma protease C1 inhibitorC1 esterase inhibitorC1-inhibiting factorcomplement component 1 inhibitorserine/cysteine proteinase inhibitor clade G member 1serpin G1serpin peptidase inhibitor clade G member 1serpin peptidase inhibitor, clade G (C1 inchromodomain-helicase-DNA-binding protein 1ATP-dependent helicase CHD1CHD-1
Modification date2018052320180522
UniProtAcc

P05155

O14646

Ensembl transtripts involved in fusion geneENST00000278407, ENST00000340687, 
ENST00000378323, ENST00000378324, 
ENST00000403558, ENST00000531605, 
ENST00000284049, ENST00000511067, 
Fusion gene scores* DoF score6 X 6 X 3=1088 X 1 X 6=48
# samples 78
** MAII scorelog2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SERPING1 [Title/Abstract] AND CHD1 [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
HgeneSERPING1

GO:0001869

negative regulation of complement activation, lectin pathway

10946292


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
TCGARVSKCMTCGA-EE-A2MK-06ASERPING1chr11

57382326

+CHD1chr5

98219587

-
* 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-intronENST00000278407ENST00000284049SERPING1chr11

57382326

+CHD1chr5

98219587

-
5CDS-intronENST00000278407ENST00000511067SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000340687ENST00000284049SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000340687ENST00000511067SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000378323ENST00000284049SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000378323ENST00000511067SERPING1chr11

57382326

+CHD1chr5

98219587

-
5CDS-intronENST00000378324ENST00000284049SERPING1chr11

57382326

+CHD1chr5

98219587

-
5CDS-intronENST00000378324ENST00000511067SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000403558ENST00000284049SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000403558ENST00000511067SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000531605ENST00000284049SERPING1chr11

57382326

+CHD1chr5

98219587

-
intron-intronENST00000531605ENST00000511067SERPING1chr11

57382326

+CHD1chr5

98219587

-

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FusionProtFeatures for SERPING1_CHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SERPING1

P05155

CHD1

O14646

ATP-dependent chromatin-remodeling factor whichfunctions as substrate recognition component of the transcriptionregulatory histone acetylation (HAT) complex SAGA. Regulatespolymerase II transcription. Also required for efficienttranscription by RNA polymerase I, and more specifically thepolymerase I transcription termination step. Regulates negativelyDNA replication. Not only involved in transcription-relatedchromatin-remodeling, but also required to maintain a specificchromatin configuration across the genome. Is also associated withhistone deacetylase (HDAC) activity (By similarity). Required forthe bridging of SNF2, the FACT complex, the PAF complex as well asthe U2 snRNP complex to H3K4me3. Functions to modulate theefficiency of pre-mRNA splicing in part through physical bridgingof spliceosomal components to H3K4me3 (PubMed:18042460,PubMed:28866611). Required for maintaining open chromatin andpluripotency in embryonic stem cells (By similarity).{ECO:0000250|UniProtKB:P40201, ECO:0000269|PubMed:18042460,ECO:0000269|PubMed:28866611}.

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 SERPING1_CHD1


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 SERPING1_CHD1


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
SERPING1SELE, SELP, C1S, ELANE, F2, MASP1, MASP2, C1R, ALB, BAG6, ENO1, NR4A1, SRPK2, CBWD3, PLAT, ARFGAP2, GRNCHD1ARRB1, HDAC1, BCLAF1, SRSF3, NCOR1, SAFB, SSRP1, CEBPA, HMGA1, HIST1H3A, MLLT1, PAF1, ELAVL1, SIRT7, ISG15, SPP1, FBXW11, HIST3H3, CUL7, OBSL1, NTRK1, CTR9, RTF1, HNRNPU, NPM1, RPL10, TMPO, BTRC, INO80B, RNF157


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 SERPING1_CHD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCHD1O14646DB00445EpirubicinChromodomain-helicase-DNA-binding protein 1small moleculeapproved

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RelatedDiseases for SERPING1_CHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSERPING1C2717906Hereditary Angioedema Type I10ORPHANET;UNIPROT
HgeneSERPING1C0019243Angioedemas, Hereditary6CTD_human
HgeneSERPING1C2717905Hereditary Angioedema Types I and II3CTD_human
HgeneSERPING1C2931758Acquired angioedema2CTD_human
HgeneSERPING1C0021400Influenza1CTD_human
HgeneSERPING1C0023890Liver Cirrhosis1CTD_human
HgeneSERPING1C0024143Lupus Nephritis1CTD_human
HgeneSERPING1C4277682Chemical and Drug Induced Liver Injury1CTD_human