FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 32637

FusionGeneSummary for SARNP_BLOC1S1

check button Fusion gene summary
Fusion gene informationFusion gene name: SARNP_BLOC1S1
Fusion gene ID: 32637
HgeneTgene
Gene symbol

SARNP

BLOC1S1

Gene ID

84324

2647

Gene nameSAP domain containing ribonucleoproteinbiogenesis of lysosomal organelles complex 1 subunit 1
SynonymsCIP29|HCC1|HSPC316|THO1BLOS1|BORCS1|GCN5L1|MICoA|RT14
Cytomap

12q13.2

12q13.2

Type of geneprotein-codingprotein-coding
DescriptionSAP domain-containing ribonucleoproteincytokine induced protein 29 kDacytokine-induced protein of 29 kDahepatocellular carcinoma 1nuclear protein Hcc-1proliferation associated cytokine-inducible protein CIP29biogenesis of lysosome-related organelles complex 1 subunit 1BLOC-1 subunit 1GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1GCN5 general control of amino-acid synthesis 5-like 1GCN5-like protein 1MTA1-interacting coactivator
Modification date2018052220180523
UniProtAcc

P82979

P78537

Ensembl transtripts involved in fusion geneENST00000444631, ENST00000336133, 
ENST00000552080, 		ENST00000257899, 
ENST00000548925, ENST00000549147, 
ENST00000547076, ENST00000551926, 
ENST00000548556, 
Fusion gene scores* DoF score10 X 5 X 8=4007 X 6 X 2=84
# samples 117
** MAII scorelog2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SARNP [Title/Abstract] AND BLOC1S1 [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
HgeneSARNP

GO:0006406

mRNA export from nucleus

20844015


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
TCGALDBRCATCGA-3C-AALJ-01ASARNPchr12

56182859

-BLOC1S1chr12

56112875

+
* 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-shiftENST00000444631ENST00000257899SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
Frame-shiftENST00000444631ENST00000548925SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
Frame-shiftENST00000444631ENST00000549147SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000444631ENST00000547076SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000444631ENST00000551926SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000444631ENST00000548556SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
Frame-shiftENST00000336133ENST00000257899SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
Frame-shiftENST00000336133ENST00000548925SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
In-frameENST00000336133ENST00000549147SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000336133ENST00000547076SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000336133ENST00000551926SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000336133ENST00000548556SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
Frame-shiftENST00000552080ENST00000257899SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
Frame-shiftENST00000552080ENST00000548925SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
In-frameENST00000552080ENST00000549147SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000552080ENST00000547076SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000552080ENST00000551926SARNPchr12

56182859

-BLOC1S1chr12

56112875

+
5CDS-5UTRENST00000552080ENST00000548556SARNPchr12

56182859

-BLOC1S1chr12

56112875

+

Top

FusionProtFeatures for SARNP_BLOC1S1


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

P82979

BLOC1S1

P78537

Binds both single-stranded and double-stranded DNA withhigher affinity for the single-stranded form. Specifically bindsto scaffold/matrix attachment region DNA. Also binds single-stranded RNA. Enhances RNA unwinding activity of DDX39A. Mayparticipate in important transcriptional or translational controlof cell growth, metabolism and carcinogenesis. Component of theTREX complex which is thought to couple mRNA transcription,processing and nuclear export, and specifically associates withspliced mRNA and not with unspliced pre-mRNA. TREX is recruited tospliced mRNAs by a transcription-independent mechanism, binds tomRNA upstream of the exon-junction complex (EJC) and is recruitedin a splicing- and cap-dependent manner to a region near the 5'end of the mRNA where it functions in mRNA export to the cytoplasmvia the TAP/NFX1 pathway. The TREX complex is essential for theexport of Kaposi's sarcoma-associated herpesvirus (KSHV)intronless mRNAs and infectious virus production.{ECO:0000269|PubMed:15338056, ECO:0000269|PubMed:17196963,ECO:0000269|PubMed:20844015}. Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension (PubMed:17182842). As part of the BORCcomplex may play a role in lysosomes movement and localization atthe cell periphery. Associated with the cytosolic face oflysosomes, the BORC complex may recruit ARL8B and couple lysosomesto microtubule plus-end-directed kinesin motor (PubMed:25898167).{ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:25898167}. May negatively regulate aerobic respiration throughmitochondrial protein lysine-acetylation. May counteract theaction of the deacetylase SIRT3 by acetylating and regulatingproteins of the mitochondrial respiratory chain including ATP5F1Aand NDUFA9. {ECO:0000269|PubMed:22309213}.

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


Top

FusionGeneSequence for SARNP_BLOC1S1


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).

Top

FusionGenePPI for SARNP_BLOC1S1


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
SARNPDDX39A, FUS, CSNK2B, CDK2, VHL, MRPL14, MRRF, VDAC3, NABP2, SRCAP, TIMM44, TAGLN, ZC3H11A, UBL4A, SBDS, MPLKIP, TBL2, MRPS31, STX7, SRPRB, THY1, SRRM2, RBMS1, SNRPC, TPX2, ACAA1, UBE2I, UBE4B, TIAL1, HSPD1, FN1, PLCG1, RIC8A, CSTB, DPP7, YARS, WDR61, ESR1, DNAJC14, EWSR1, THOC1, MPP1, PFKFB2, THOC2, THOC7, LIMK1, U2AF2, CCDC9, ZC3H14, FYTTD1, KBTBD7, ACIN1, CHTOP, C17orf85, RNPS1, PPIG, POLDIP3, MAGOH, PPP2R2D, PNN, CRIP2, THOC5, CPVL, EIF4A3, WDR45B, COPZ1, SUB1, CHORDC1, DIS3, SEPT7, PRCC, CDK5, SH3GLB1, DRG1, SCYL2, PDHA1BLOC1S1BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, SNAPIN, PTN, MTA1, PELP1, ESR1, HDAC2, APP, TEX35, C17orf59, BCAS4, CLTC, MUS81, PTEN, SCLT1, TNFRSF8, IKBIP, CCDC53


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


Top

RelatedDrugs for SARNP_BLOC1S1


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

Top

RelatedDiseases for SARNP_BLOC1S1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneBLOC1S1C0036341Schizophrenia1PSYGENET