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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: 33002

FusionGeneSummary for SEC13_GOLPH3L

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC13_GOLPH3L
Fusion gene ID: 33002
HgeneTgene
Gene symbol

SEC13

GOLPH3L

Gene ID

6396

55204

Gene nameSEC13 homolog, nuclear pore and COPII coat complex componentgolgi phosphoprotein 3 like
SynonymsD3S1231E|SEC13L1|SEC13R|npp-20GPP34R
Cytomap

3p25.3

1q21.3

Type of geneprotein-codingprotein-coding
Descriptionprotein SEC13 homologGATOR complex protein SEC13SEC13 homolog, nuclear pore and COPII coating complex componentSEC13-like 1 isoformSEC13-like protein 1SEC13-related proteinGolgi phosphoprotein 3-likeGPP34-related protein
Modification date2018052320180523
UniProtAcc

P55735

Q9H4A5

Ensembl transtripts involved in fusion geneENST00000397109, ENST00000337354, 
ENST00000350697, ENST00000397117, 
ENST00000383801, ENST00000492602, 
ENST00000271732, ENST00000540514, 
ENST00000479757, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 4 X 7=224
# samples 18
** MAII scorelog2(1/1*10)=3.32192809488736log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEC13 [Title/Abstract] AND GOLPH3L [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
HgeneSEC13

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
TCGALDBLCATCGA-ZF-AA4T-01ASEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
* 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-3CDSENST00000397109ENST00000271732SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-3CDSENST00000397109ENST00000540514SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-intronENST00000397109ENST00000479757SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5UTR-3CDSENST00000337354ENST00000271732SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5UTR-3CDSENST00000337354ENST00000540514SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5UTR-intronENST00000337354ENST00000479757SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
In-frameENST00000350697ENST00000271732SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
In-frameENST00000350697ENST00000540514SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5CDS-intronENST00000350697ENST00000479757SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-3CDSENST00000397117ENST00000271732SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-3CDSENST00000397117ENST00000540514SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-intronENST00000397117ENST00000479757SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5UTR-3CDSENST00000383801ENST00000271732SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5UTR-3CDSENST00000383801ENST00000540514SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
5UTR-intronENST00000383801ENST00000479757SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-3CDSENST00000492602ENST00000271732SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-3CDSENST00000492602ENST00000540514SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-
intron-intronENST00000492602ENST00000479757SEC13chr3

10362734

-GOLPH3Lchr1

150634404

-

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FusionProtFeatures for SEC13_GOLPH3L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEC13

P55735

GOLPH3L

Q9H4A5

Functions as a component of the nuclear pore complex(NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 isinvolved in the biogenesis of COPII-coated vesicles.{ECO:0000269|PubMed:8972206}. As a component of the GATOR subcomplex GATOR2, functionswithin the amino acid-sensing branch of the TORC1 signalingpathway. Indirectly activates mTORC1 and the TORC1 signalingpathway through the inhibition of the GATOR1 subcomplex(PubMed:23723238). It is negatively regulated by the upstreamamino acid sensors SESN2 and CASTOR1 (PubMed:25457612,PubMed:27487210). {ECO:0000269|PubMed:23723238,ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:27487210}. Phosphatidylinositol-4-phosphate-binding protein thatmay antagonize the action of GOLPH3 which is required for theprocess of vesicle budding at the Golgi and anterograde transportto the plasma membrane. {ECO:0000269|PubMed:23345592}.

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 SEC13_GOLPH3L


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_SEC13_ENST00000350697_chr3_10362734_-_GOLPH3L_ENST00000271732_chr1_150634404_-_182aa
MVLLKSDSPTGDVLLDETLKHIKATEPTETVQTWIELLTGETWNPFKLQYQLRNVRERIAKNLVEKGILTTEKQNFLLFDMTTHPVTNTT
EKQRLVKKLQDSVLERWVNDPQRMDKRTLALLVLAHSSDVLENVFSSLTDDKYDVAMNRAKDLVELDPEVEGTKPSATEMIWAVLAAFNK

>In-frame_SEC13_ENST00000350697_chr3_10362734_-_GOLPH3L_ENST00000540514_chr1_150634404_-_182aa
MVLLKSDSPTGDVLLDETLKHIKATEPTETVQTWIELLTGETWNPFKLQYQLRNVRERIAKNLVEKGILTTEKQNFLLFDMTTHPVTNTT
EKQRLVKKLQDSVLERWVNDPQRMDKRTLALLVLAHSSDVLENVFSSLTDDKYDVAMNRAKDLVELDPEVEGTKPSATEMIWAVLAAFNK


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SEC13_ENST00000350697_chr3_10362734_-_GOLPH3L_ENST00000271732_chr1_150634404_-_546nt
ATGGTACTGCTAAAGTCAGACAGCCCAACAGGTGATGTTTTACTGGATGAAACTCTGAAACACATCAAAGCAACTGAACCCACAGAAACT
GTCCAAACATGGATAGAGCTACTCACTGGTGAGACCTGGAACCCCTTCAAATTACAGTACCAGCTGAGAAATGTACGAGAGCGCATCGCA
AAGAACCTAGTAGAGAAAGGTATTCTAACCACTGAGAAGCAGAATTTCCTGCTATTTGACATGACTACTCATCCAGTGACCAATACAACA
GAGAAACAGCGACTAGTGAAAAAACTTCAAGATAGTGTACTAGAGCGGTGGGTAAATGACCCTCAGCGTATGGACAAGCGAACACTAGCA
CTCCTGGTGCTAGCCCACTCCTCTGATGTGCTAGAGAATGTCTTCTCCTCTCTGACAGATGACAAGTATGATGTGGCAATGAATCGAGCC
AAGGACTTAGTAGAACTGGACCCTGAAGTGGAAGGGACAAAGCCTAGTGCCACAGAAATGATCTGGGCTGTGCTGGCAGCCTTCAATAAA

>In-frame_SEC13_ENST00000350697_chr3_10362734_-_GOLPH3L_ENST00000540514_chr1_150634404_-_546nt
ATGGTACTGCTAAAGTCAGACAGCCCAACAGGTGATGTTTTACTGGATGAAACTCTGAAACACATCAAAGCAACTGAACCCACAGAAACT
GTCCAAACATGGATAGAGCTACTCACTGGTGAGACCTGGAACCCCTTCAAATTACAGTACCAGCTGAGAAATGTACGAGAGCGCATCGCA
AAGAACCTAGTAGAGAAAGGTATTCTAACCACTGAGAAGCAGAATTTCCTGCTATTTGACATGACTACTCATCCAGTGACCAATACAACA
GAGAAACAGCGACTAGTGAAAAAACTTCAAGATAGTGTACTAGAGCGGTGGGTAAATGACCCTCAGCGTATGGACAAGCGAACACTAGCA
CTCCTGGTGCTAGCCCACTCCTCTGATGTGCTAGAGAATGTCTTCTCCTCTCTGACAGATGACAAGTATGATGTGGCAATGAATCGAGCC
AAGGACTTAGTAGAACTGGACCCTGAAGTGGAAGGGACAAAGCCTAGTGCCACAGAAATGATCTGGGCTGTGCTGGCAGCCTTCAATAAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_SEC13_ENST00000350697_chr3_10362734_-_GOLPH3L_ENST00000271732_chr1_150634404_-_2768nt
CCGAGCGCGTTGCTGCCCGGAGGCTCCTACGCCACGGCCCGTCGGGCCCGGCGCCGGAAGTGAGCTGTTCCGAGGCGCCGCCGGGAGCTG
CCACGTCCGAGACCTGGAGCAGCCACCGCCGCAATCATGGTACTGCTAAAGTCAGACAGCCCAACAGGTGATGTTTTACTGGATGAAACT
CTGAAACACATCAAAGCAACTGAACCCACAGAAACTGTCCAAACATGGATAGAGCTACTCACTGGTGAGACCTGGAACCCCTTCAAATTA
CAGTACCAGCTGAGAAATGTACGAGAGCGCATCGCAAAGAACCTAGTAGAGAAAGGTATTCTAACCACTGAGAAGCAGAATTTCCTGCTA
TTTGACATGACTACTCATCCAGTGACCAATACAACAGAGAAACAGCGACTAGTGAAAAAACTTCAAGATAGTGTACTAGAGCGGTGGGTA
AATGACCCTCAGCGTATGGACAAGCGAACACTAGCACTCCTGGTGCTAGCCCACTCCTCTGATGTGCTAGAGAATGTCTTCTCCTCTCTG
ACAGATGACAAGTATGATGTGGCAATGAATCGAGCCAAGGACTTAGTAGAACTGGACCCTGAAGTGGAAGGGACAAAGCCTAGTGCCACA
GAAATGATCTGGGCTGTGCTGGCAGCCTTCAATAAATCTTAAAGCCGGCAGGTGGATTTCTCCTTTTCCCCTGCTGGCTGGTGACTGTCA
GAGACCCCATCACTGAGTTTTGTGTGATGAGATGTTTTCATCATTTTTGTTTCCTTTTCTTGAATCAGACTTGTGATTTGGGGAGAGCAA
CTTCAGGGCTTCTCCATAGACCTTGACCATTATAAGCAGACCTTATTTCTCCCTACACTTCCACTCCATAGGTAAATAAACTGGGTGAAG
CCACACACACCCAATGAACATTTTCTCCCATTTGGTGGTTTAGTTTCACCCAGTGTGCTTTTGGATAAGCAGAAATATCTAAATGGGATT
TTGAGTTCTCCAGCTATAGAATGTGAATGAGATAAAAAGTGAACTATCTATTATATTTTTCTGAGTTTGTTTTCTATCATAAATACATGT
TTTCACAGCCTTTGTCTCTCAGACTCTGCTAAATAATGTAGCTTATTGAAATAACTGTCGCTGAATAAGGAGCAATGAGAAACAAAACTA
ATTTTTGGAGCAGATGGTCTCTGGAATTGCATATCCTGCTAGTGATTTTCTCATCTTTCCTTTTCTAACCTAATGAGAATGTCCCAGATT
CAATTACCTGGATGTCAAAGTCCTAGAGCCAGAAATATATTCTCTCATCCCTCTTAGCATTCTCTTGCTCCCTCATTCACTAGGGCAAAT
GTCTAAATGAAGAAAAGTCTCTCTCAACACCTCGTTCATGCAATCAGCATTAGAATTTGTAAGGAAGGAAGGGGGGTGGCATGAAAATTT
CCATTCTTGGGGTATATGACTGTCCTGTTTCCCCCAGGCCACTTTTTTTTTTTTTTTCTTTTGAGACAGGGTCTTGCTCTTGCCCAGGCA
GGAGTACAGTAGTGCAATCACAGCTGACTGCAGCCTTGACCTCCAGGGCTCAAGGATCCTCCTGCCTCAGTCTCCCAACTAAGTGGGACT
ACAGGCACGTGCCACCATACTCAGCTTTTTTTTGTTTGTTTTAGACAAGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAATTCCTGGGC
TCAAGCAATTCTTCCACCTCAGCCTCCCAAAGTGCTGAGATTACTGGCTTGAGCCACTGCACCCACCCCTCCAGACTACTTTAAATGTCT
CTGCTCTGACTGAATTGAAGGAATTGTAAGTTTCAGTTGCTGAATATATCAGTATATCTGAACTCCAGATCTTTTTATTTCCTATTTTTG
GCTTCCTACATAAATTAATAAAGTCTGTCTATATTTAAGGTTTCTGGGAGTAGTTTTGTCTATATTTAATCCATAGATGTGCTCCTAGTC
ATCAGTCTTATTTCAGTAAAACCATCTTTCTGGCCAAATCTCTAACACGTTTTTTACTTCAGTAGTGAGGGCAATGAGAAGCTTTATTAA
GAAAGATCCTATTTAAAGGGCTAATTTGGTATTGAAAGCATGCTGATATAAAGTCCAGTATTTGAGGATATAAAGAGGATGTGCACTGAG
CTGTGCTGATGTTCAGCATTTATTATACTTTAATGGGATAGTGCTTCTTGACCATTATAGAACAACAAACTGTCAAAGGGTTAATACAGA
TGACCCAGACCTGACATTAAATCCTCTTGATTAGAAATAATTAAATGAATTATTTATTCATTTCTCTCCTCTGCCAAATCTACTTAGCCC
CACAAAAATGCCCCAGCTCAGTTAACATTTTTTTGTTTTTCACTTTAGGTATCTCTTAGGCAAATAGAGATATAAATTGTAATAGGAAAC
AGTCTCTAAATGTGAGGCTGAATACAGCTTCAGTCTGGCTCTCTAATAGGACAAAAGCCAGTCCATGTGTTGTCTCTAACTGATTTAGCT
TTTTCTTTTCTTTGAACAATTCGGCATGAATTGAAACCAGGTTTTCCTGTGGAAAGTTATAGCTTGATTGGGAGATAGAAGTTGAATTGA
GTTCTTTCTTGCAACTCTTAGTGTTTATTTTTATATCTCAGTAAGACGAGGATACCTTCAGTTTGAATCTGCATAATGTTCACTGCCAAA

>In-frame_SEC13_ENST00000350697_chr3_10362734_-_GOLPH3L_ENST00000540514_chr1_150634404_-_782nt
CCGAGCGCGTTGCTGCCCGGAGGCTCCTACGCCACGGCCCGTCGGGCCCGGCGCCGGAAGTGAGCTGTTCCGAGGCGCCGCCGGGAGCTG
CCACGTCCGAGACCTGGAGCAGCCACCGCCGCAATCATGGTACTGCTAAAGTCAGACAGCCCAACAGGTGATGTTTTACTGGATGAAACT
CTGAAACACATCAAAGCAACTGAACCCACAGAAACTGTCCAAACATGGATAGAGCTACTCACTGGTGAGACCTGGAACCCCTTCAAATTA
CAGTACCAGCTGAGAAATGTACGAGAGCGCATCGCAAAGAACCTAGTAGAGAAAGGTATTCTAACCACTGAGAAGCAGAATTTCCTGCTA
TTTGACATGACTACTCATCCAGTGACCAATACAACAGAGAAACAGCGACTAGTGAAAAAACTTCAAGATAGTGTACTAGAGCGGTGGGTA
AATGACCCTCAGCGTATGGACAAGCGAACACTAGCACTCCTGGTGCTAGCCCACTCCTCTGATGTGCTAGAGAATGTCTTCTCCTCTCTG
ACAGATGACAAGTATGATGTGGCAATGAATCGAGCCAAGGACTTAGTAGAACTGGACCCTGAAGTGGAAGGGACAAAGCCTAGTGCCACA
GAAATGATCTGGGCTGTGCTGGCAGCCTTCAATAAATCTTAAAGCCGGCAGGTGGATTTCTCCTTTTCCCCTGCTGGCTGGTGACTGTCA


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FusionGenePPI for SEC13_GOLPH3L


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
SEC13SEC16B, NUP37, NUP160, NUP133, NUP107, NUP85, SEC31A, RAB11A, SEC13, SIRT7, STAM2, CUL3, SEC23A, SLC12A2, RAD52, BAG3, CLDN12, MAPK9, EGFR, POLR2E, PRPF19, PSMB1, CSNK1A1, CSNK1E, FUS, TRAF5, RNF2, BCR, SPDL1, NUP98, SEH1L, MIOS, PRPF38A, WDR59, WDR24, STX7, ACY1, NUP43, MED4, TFG, QRICH1, SESN2, HSPB1, AHSA1, FLNB, NAPRT, SARS, SEC23B, SEPHS1, SEC24B, IFI16, EWSR1, B9D2, XPO1, CLTB, CLTC, FLNA, GAK, PICALM, AP1S2, SEC16A, GTSE1, MCM2, PPWD1, ZBTB5, CCDC94, FLYWCH2, WDR92, EDEM3, BRCA1GOLPH3LELAVL1, VCP, HTT, LNX1, SHMT2, MOV10, ZDHHC17, RWDD2B, PNKD, C3orf58, ARL6IP1, GPRC5C, P2RX1, CHST6, C5AR2, S1PR1, TNFRSF8, GLB1L2, SLC39A5, ENTPD7


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 SEC13_GOLPH3L


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 SEC13_GOLPH3L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource