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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: 33057

FusionGeneSummary for SEC24D_CFI

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC24D_CFI
Fusion gene ID: 33057
HgeneTgene
Gene symbol

SEC24D

CFI

Gene ID

9871

3426

Gene nameSEC24 homolog D, COPII coat complex componentcomplement factor I
SynonymsCLCRP2AHUS3|ARMD13|C3BINA|C3b-INA|FI|IF|KAF
Cytomap

4q26

4q25

Type of geneprotein-codingprotein-coding
Descriptionprotein transport protein Sec24DSEC24 related gene family, member DSEC24-related protein Dcomplement factor IC3B/C4B inactivatorC3b-inactivatorKonglutinogen-activating factorcomplement component Icomplement control protein factor Icomplement factor I heavy chainlight chain of factor I
Modification date2018051920180519
UniProtAcc

O94855

P05156

Ensembl transtripts involved in fusion geneENST00000280551, ENST00000379735, 
ENST00000429811, ENST00000505134, 
ENST00000511481, ENST00000419654, 
ENST00000394635, ENST00000394634, 
ENST00000512148, ENST00000510800, 
Fusion gene scores* DoF score3 X 3 X 2=181 X 1 X 1=1
# samples 51
** MAII scorelog2(5/18*10)=1.47393118833241
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: SEC24D [Title/Abstract] AND CFI [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
HgeneSEC24D

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


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
TCGARVBRCATCGA-A2-A3XZ-01ASEC24Dchr4

119718838

-CFIchr4

110687980

-
* 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
Frame-shiftENST00000280551ENST00000394635SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000280551ENST00000394634SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000280551ENST00000512148SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000280551ENST00000510800SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000379735ENST00000394635SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000379735ENST00000394634SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000379735ENST00000512148SEC24Dchr4

119718838

-CFIchr4

110687980

-
Frame-shiftENST00000379735ENST00000510800SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000429811ENST00000394635SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000429811ENST00000394634SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000429811ENST00000512148SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000429811ENST00000510800SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000505134ENST00000394635SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000505134ENST00000394634SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000505134ENST00000512148SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000505134ENST00000510800SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000511481ENST00000394635SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000511481ENST00000394634SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000511481ENST00000512148SEC24Dchr4

119718838

-CFIchr4

110687980

-
intron-3CDSENST00000511481ENST00000510800SEC24Dchr4

119718838

-CFIchr4

110687980

-
5UTR-3CDSENST00000419654ENST00000394635SEC24Dchr4

119718838

-CFIchr4

110687980

-
5UTR-3CDSENST00000419654ENST00000394634SEC24Dchr4

119718838

-CFIchr4

110687980

-
5UTR-3CDSENST00000419654ENST00000512148SEC24Dchr4

119718838

-CFIchr4

110687980

-
5UTR-3CDSENST00000419654ENST00000510800SEC24Dchr4

119718838

-CFIchr4

110687980

-

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FusionProtFeatures for SEC24D_CFI


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEC24D

O94855

CFI

P05156

Component of the coat protein complex II (COPII) whichpromotes the formation of transport vesicles from the endoplasmicreticulum (ER). The coat has two main functions, the physicaldeformation of the endoplasmic reticulum membrane into vesiclesand the selection of cargo molecules for their transport to theGolgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296).Plays a central role in cargo selection within the COPII complexand together with SEC24C may have a different specificity comparedto SEC24A and SEC24B (PubMed:17499046, PubMed:20427317,PubMed:18843296). May more specifically package GPI-anchoredproteins through the cargo receptor TMED10 (PubMed:20427317). Mayalso be specific for IxM motif-containing cargos like the SNAREsGOSR2 and STX5 (PubMed:18843296). {ECO:0000269|PubMed:17499046,ECO:0000269|PubMed:18843296, ECO:0000269|PubMed:20427317}. Responsible for cleaving the alpha-chains of C4b and C3bin the presence of the cofactors C4-binding protein and factor Hrespectively.

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 SEC24D_CFI


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 SEC24D_CFI


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
SEC24DSEC23B, SEC24C, SEC24A, PICALM, LMO4, RSU1, CARS, FAM114A1, GTF2E2, HIST1H1C, PXN, THUMPD3, USP48, VPS29, SHMT2, EWSR1, SF3B4, LPPR2, NAAA, ARFIP1, CD2AP, SEC23A, SH3KBP1, NTRK1, WWP2, XPO1, PLEKHO1, SLC13A2, AMTN, TMA16CFIC3, GLP1R, ECM1


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 SEC24D_CFI


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCFIP05156DB01593ZincComplement factor Ismall moleculeapproved|investigational

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RelatedDiseases for SEC24D_CFI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEC24DC4225382COLE-CARPENTER SYNDROME 21UNIPROT
TgeneCFIC2752039HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 35ORPHANET;UNIPROT
TgeneCFIC0242383Age related macular degeneration3CTD_human
TgeneCFIC3463916Complement Factor I (C3 inactivator) deficiency2CTD_human;ORPHANET;UNIPROT