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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: 4694

FusionGeneSummary for C14orf2_ACIN1

check button Fusion gene summary
Fusion gene informationFusion gene name: C14orf2_ACIN1
Fusion gene ID: 4694
HgeneTgene
Gene symbol

C14orf2

ACIN1

Gene ID

22985

Gene nameapoptotic chromatin condensation inducer 1
SynonymsACINUS|ACN|fSAP152
Cytomap

14q11.2

Type of geneprotein-coding
Descriptionapoptotic chromatin condensation inducer in the nucleusfunctional spliceosome-associated protein 152
Modification date20180522
UniProtAcc

Q9UKV3

Ensembl transtripts involved in fusion geneENST00000286953, ENST00000554880, 
ENST00000555030, ENST00000414262, 
ENST00000553430, ENST00000557040, 
ENST00000553449, ENST00000554713, 
ENST00000557515, ENST00000338631, 
ENST00000357481, ENST00000605057, 
ENST00000457657, ENST00000262710, 
ENST00000397341, ENST00000555053, 
ENST00000555352, 
Fusion gene scores* DoF score4 X 3 X 3=367 X 7 X 3=147
# samples 48
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C14orf2 [Title/Abstract] AND ACIN1 [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
TgeneACIN1

GO:0030263

apoptotic chromosome condensation

10490026


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
TCGALDKIRPTCGA-GL-A9DE-01AC14orf2chr14

104387807

-ACIN1chr14

23559310

-
* 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
5UTR-intronENST00000286953ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000286953ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
intron-intronENST00000554880ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000555030ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000414262ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553430ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000557040ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000553449ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000557515C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000338631C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000357481C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000605057C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000457657C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000262710C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000397341C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000555053C14orf2chr14

104387807

-ACIN1chr14

23559310

-
5UTR-intronENST00000554713ENST00000555352C14orf2chr14

104387807

-ACIN1chr14

23559310

-

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FusionProtFeatures for C14orf2_ACIN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C14orf2

ACIN1

Q9UKV3

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Auxiliary component of the splicing-dependentmultiprotein exon junction complex (EJC) deposited at splicejunction on mRNAs. The EJC is a dynamic structure consisting ofcore proteins and several peripheral nuclear and cytoplasmicassociated factors that join the complex only transiently eitherduring EJC assembly or during subsequent mRNA metabolism.Component of the ASAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJCprior to or during the splicing process and to regulate specificexcision of introns in specific transcription subsets; ACIN1confers RNA-binding to the complex. The ASAP complex can inhibitRNA processing during in vitro splicing reactions. The ASAPcomplex promotes apoptosis and is disassembled after induction ofapoptosis. Involved in the splicing modulation of BCL2L1/Bcl-X(and probably other apoptotic genes); specifically inhibitsformation of proapoptotic isoforms such as Bcl-X(S); the activityis different from the established EJC assembly and function.Induces apoptotic chromatin condensation after activation byCASP3. Regulates cyclin A1, but not cyclin A2, expression inleukemia cells. {ECO:0000269|PubMed:10490026,ECO:0000269|PubMed:12665594, ECO:0000269|PubMed:18559500,ECO:0000269|PubMed:22203037, ECO:0000269|PubMed:22388736}.

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 C14orf2_ACIN1


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 C14orf2_ACIN1


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
C14orf2SPACA1, UNKACIN1ABCF3, PAFAH1B2, BANF1, SAP18, SRRM1, RBM39, ELAVL1, SF3A2, SIRT7, HNRNPA1, RNPS1, CUL3, ALYREF, GRK5, BCAS2, SMU1, DHX9, DHX15, DDX17, PRPF6, SF3A1, WIBG, CSGALNACT1, SEPT7, SRP14, RHOT2, BET1, FUT8, DHRS7B, TRMT112, UTP14A, RRP7A, ATP7A, SEPT2, SNAP91, ARMCX3, CAV1, EVPL, S100A9, PRKCA, SMC1A, BOP1, PTCD3, THRAP3, LGMN, NFIA, SUPT16H, RCC1, SNRPGP15, SAFB, SON, RRS1, NDUFAF4, EIF4A3, MAGOH, SRPK2, CSNK2A1, HDAC6, HDAC11, PCBD1, SRPK1, CLK2, WWOX, LGR4, CUL7, OBSL1, SUZ12, EED, RNF2, BMI1, LUZP4, PRPF40A, VTI1B, LUC7L, LUC7L2, SNIP1, EPB41L3, NTRK1, RPL7, RPS13, SLC3A2, SRRM2, SSRP1, SUB1, ZC3H18, IFI16, HIST1H3E, SGTB, SNW1, SENP3, U2AF2, CAMKV, C11orf57, EPB41L2, PIP4K2A, WSB2, KLHL2, PNN, U2AF1, SARNP, TMEM184B, INSL6, ARRB1, ELAVL2, DENND2D, SNRPA1, COX15, DLD, DLST, DNM1L, PDHA1, LMNA


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 C14orf2_ACIN1


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 C14orf2_ACIN1


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