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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: 29173

FusionGeneSummary for PSMD11_SLC4A4

check button Fusion gene summary
Fusion gene informationFusion gene name: PSMD11_SLC4A4
Fusion gene ID: 29173
HgeneTgene
Gene symbol

PSMD11

SLC4A4

Gene ID

5717

8671

Gene nameproteasome 26S subunit, non-ATPase 11solute carrier family 4 member 4
SynonymsRpn6|S9|p44.5HNBC1|KNBC|NBC1|NBC2|NBCe1-A|SLC4A5|hhNMC|kNBC1|pNBC
Cytomap

17q11.2

4q13.3

Type of geneprotein-codingprotein-coding
Description26S proteasome non-ATPase regulatory subunit 1126S proteasome regulatory subunit 926S proteasome regulatory subunit RPN626S proteasome regulatory subunit S926S proteasome regulatory subunit p44.5proteasome (prosome, macropain) 26S subunit, non-ATPaseelectrogenic sodium bicarbonate cotransporter 1Na(+)/HCO3(-) cotransportersodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas)solute carrier family 4 (sodium bicarbonate cotransporter
Modification date2018052320180523
UniProtAcc

O00231

Q9Y6R1

Ensembl transtripts involved in fusion geneENST00000261712, ENST00000457654, 
ENST00000264485, ENST00000425175, 
ENST00000351898, ENST00000340595, 
ENST00000514331, ENST00000512686, 
Fusion gene scores* DoF score10 X 5 X 6=30010 X 8 X 5=400
# samples 1111
** MAII scorelog2(11/300*10)=-1.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSMD11 [Title/Abstract] AND SLC4A4 [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
TgeneSLC4A4

GO:0006814

sodium ion transport

16769890


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-4Z-AA80-01APSMD11chr17

30781637

+SLC4A4chr4

72205087

+
* 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-shiftENST00000261712ENST00000264485PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000261712ENST00000425175PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000261712ENST00000351898PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000261712ENST00000340595PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
5CDS-3UTRENST00000261712ENST00000514331PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
5CDS-3UTRENST00000261712ENST00000512686PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000457654ENST00000264485PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000457654ENST00000425175PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000457654ENST00000351898PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
Frame-shiftENST00000457654ENST00000340595PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
5CDS-3UTRENST00000457654ENST00000514331PSMD11chr17

30781637

+SLC4A4chr4

72205087

+
5CDS-3UTRENST00000457654ENST00000512686PSMD11chr17

30781637

+SLC4A4chr4

72205087

+

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FusionProtFeatures for PSMD11_SLC4A4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSMD11

O00231

SLC4A4

Q9Y6R1

Component of the 26S proteasome, a multiprotein complexinvolved in the ATP-dependent degradation of ubiquitinatedproteins. This complex plays a key role in the maintenance ofprotein homeostasis by removing misfolded or damaged proteins,which could impair cellular functions, and by removing proteinswhose functions are no longer required. Therefore, the proteasomeparticipates in numerous cellular processes, including cell cycleprogression, apoptosis, or DNA damage repair. In the complex,PSMD11 is required for proteasome assembly. Plays a key role inincreased proteasome activity in embryonic stem cells (ESCs): itshigh expression in ESCs promotes enhanced assembly of the 26Sproteasome, followed by higher proteasome activity.{ECO:0000269|PubMed:1317798, ECO:0000269|PubMed:22972301}.

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 PSMD11_SLC4A4


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 PSMD11_SLC4A4


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
PSMD11PSMD13, PSMD10, PSMD6, PAAF1, PSMC4, GDF9, CCSER2, CCDC90B, IGSF21, PTPRK, COPS6, HAP1, SETDB1, ZHX1, MED31, EEF1G, GAPDH, PTN, LRIF1, TLE1, TP53, TUBB2A, UNC119, ZBTB16, BRD7, CRMP1, RBM48, EEF1A1, PSMD14, PSMD7, UCHL5, USP14, USP15, USP20, SLX1B, NFKB2, UBC, HDAC5, INSIG2, SHFM1, RAD23A, PRKAB2, PRKAA2, PRKAA1, FKBP8, FBXO25, PSMA2, CDK2, USP4, GRK5, GRB2, APP, PSMC5, PSMC6, PSMC1, PSMC3, PSMC2, PSMD12, PSMD1, PSMD2, PSMD3, PSMD8, PSMD4, PSMA5, PSMA7, PSMB1, PSMA6, PSMA3, PSMB7, PSMA1, PSMB2, PSMB3, PSMB5, PSMA4, PSMB4, PSME3, PUS1, LRRK2, FN1, VCAM1, NOS2, SMAD3, SMAD4, SMAD2, SMAD1, SMAD5, CFTR, PARK2, PRMT6, RNF11, ADRM1, KIAA0368, KCMF1, RPS15A, RPS21, RPS8, ASB11, HUWE1, CUL7, CCDC74B, CCDC92, PSMB9, COPS3, COX5A, DCTN1, DNAJA2, MCFD2, MTCH1, NHP2L1, NLRP9, POLE, PSMB6, PSMB8, DNAJA1, DNAJA4, IKBKAP, PSMD5, PSMD9, NTRK1, HERC2, FAN1, RNF168, SUCO, CRY1, CRY2, PRKACA, MID2, SNW1, CDC5L, RC3H1, DERL1, UBLCP1, KDELR1, ODF1, ATG9A, ZFYVE27, NALCN, SLCO6A1, SLC17A2, TMC7, CYLD, DLD, HSD17B10, SOD1, BRCA1SLC4A4SREBF2


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 PSMD11_SLC4A4


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 PSMD11_SLC4A4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC4A4C1970309Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation3CTD_human;ORPHANET;UNIPROT
TgeneSLC4A4C0001126Renal tubular acidosis1CTD_human
TgeneSLC4A4C0008073Developmental Disabilities1CTD_human
TgeneSLC4A4C0010038Corneal Opacity1CTD_human
TgeneSLC4A4C0017601Glaucoma1CTD_human;HPO
TgeneSLC4A4C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSLC4A4C0086543Cataract1CTD_human;HPO