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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: 16140

FusionGeneSummary for HFM1_SEC24A

check button Fusion gene summary
Fusion gene informationFusion gene name: HFM1_SEC24A
Fusion gene ID: 16140
HgeneTgene
Gene symbol

HFM1

SEC24A

Gene ID

164045

10802

Gene nameHFM1, ATP dependent DNA helicase homologSEC24 homolog A, COPII coat complex component
SynonymsMER3|POF9|SEC63D1|Si-11|Si-11-6|helicase-
Cytomap

1p22.2

5q31.1

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent DNA helicase HFM1SEC63 domain-containing protein 1helicase-like protein HFM1protein transport protein Sec24ASEC24 family, member ASEC24 related gene family, member ASEC24-related protein A
Modification date2018051920180519
UniProtAcc

A2PYH4

O95486

Ensembl transtripts involved in fusion geneENST00000462405, ENST00000370425, 
ENST00000294696, ENST00000370424, 
ENST00000398844, ENST00000322887, 
Fusion gene scores* DoF score5 X 5 X 1=253 X 3 X 3=27
# samples 64
** MAII scorelog2(6/25*10)=1.26303440583379
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: HFM1 [Title/Abstract] AND SEC24A [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
TgeneSEC24A

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
ChiTaRS3.1DW418469HFM1chr1

91852874

-SEC24Achr5

134010430

+
ChiTaRS3.1DW412606HFM1chr1

91852874

-SEC24Achr5

134010430

+
* 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
intron-3CDSENST00000462405ENST00000398844HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000462405ENST00000322887HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000370425ENST00000398844HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000370425ENST00000322887HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000294696ENST00000398844HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000294696ENST00000322887HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000370424ENST00000398844HFM1chr1

91852874

-SEC24Achr5

134010430

+
intron-3CDSENST00000370424ENST00000322887HFM1chr1

91852874

-SEC24Achr5

134010430

+

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FusionProtFeatures for HFM1_SEC24A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HFM1

A2PYH4

SEC24A

O95486

Required for crossover formation and complete synapsisof homologous chromosomes during meiosis.{ECO:0000250|UniProtKB:D3Z4R1}. 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:20427317, PubMed:17499046, PubMed:18843296).Plays a central role in cargo selection within the COPII complexand together with SEC24B may have a different specificity comparedto SEC24C and SEC24D. May package preferentially cargos withcytoplasmic DxE or LxxLE motifs and may also recognizeconformational epitopes (PubMed:17499046, PubMed:18843296).{ECO:0000269|PubMed:17499046, ECO:0000269|PubMed:18843296,ECO:0000269|PubMed:20427317}.

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 HFM1_SEC24A


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 HFM1_SEC24A


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


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 HFM1_SEC24A


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 HFM1_SEC24A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHFM1C3810376PREMATURE OVARIAN FAILURE 91UNIPROT