Summary ?
GeneID29979
SymbolUBQLN1
SynonymsDA41|DSK2|PLIC-1|UBQN|XDRP1
Descriptionubiquilin 1
ReferenceMIM:605046|HGNC:HGNC:12508|Ensembl:ENSG00000135018|HPRD:05440|Vega:OTTHUMG00000020104
Gene typeprotein-coding
Map location9q22|9q21.2-q21.3
Pascal p-value0.028
Sherlock p-value0.259
TADA p-value0.011
Fetal beta0.455
SupportCompositeSet
Darnell FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
UBQLN1chr986292782TANM_013438
NM_053067
p.322N>I
p.322N>I
missense
missense
SchizophreniaDNM:Xu_2012


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
CD47IAP | MER6 | OA3CD47 molecule-HPRD10549293 
CD99MIC2 | MIC2X | MIC2YCD99 moleculeTwo-hybridBioGRID16189514 
CSTF2CstF-64cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDaTwo-hybridBioGRID16189514 
CSTF2TCstF-64T | DKFZp434C1013 | KIAA0689cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variantTwo-hybridBioGRID16189514 
EFEMP2FBLN4 | MBP1 | UPH1EGF-containing fibulin-like extracellular matrix protein 2Two-hybridBioGRID16189514 
FAM127BCXX1b | DKFZp564B147 | MAR8A | MGC8471family with sequence similarity 127, member BTwo-hybridBioGRID16189514 
FRAP1FLJ44809 | FRAP | FRAP2 | MTOR | RAFT1 | RAPT1FK506 binding protein 12-rapamycin associated protein 1-HPRD,BioGRID11853878 
FZD7FzE3frizzled homolog 7 (Drosophila)Two-hybridBioGRID16189514 
GABRDMGC45284gamma-aminobutyric acid (GABA) A receptor, deltaTwo-hybridBioGRID16189514 
HGSHRS | ZFYVE8hepatocyte growth factor-regulated tyrosine kinase substrateTwo-hybridBioGRID16189514 
HK2DKFZp686M1669 | HKII | HXK2hexokinase 2Two-hybridBioGRID16189514 
HSPA13STCHheat shock protein 70kDa family, member 13Two-hybridBioGRID16189514 
IGLC1IGLCimmunoglobulin lambda constant 1 (Mcg marker)Two-hybridBioGRID16189514 
KLHDC5KIAA1340 | MGC131714kelch domain containing 5Two-hybridBioGRID16189514 
NBL1D1S1733E | DAN | DAND1 | MGC8972 | NB | NO3neuroblastoma, suppression of tumorigenicity 1-HPRD,BioGRID9303440 |10390159 
P4HBDSI | ERBA2L | GIT | PDI | PDIA1 | PHDB | PO4DB | PO4HB | PROHBprocollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide-HPRD,BioGRID12095988 
PLA2G16AdPLA | H-REV107-1 | HRASLS3 | HREV107 | HREV107-3 | MGC118754phospholipase A2, group XVITwo-hybridBioGRID16189514 
PSEN1AD3 | FAD | PS1 | S182presenilin 1Reconstituted Complex
Two-hybrid
BioGRID11076969 
PSEN2AD3L | AD4 | PS2 | STM2presenilin 2 (Alzheimer disease 4)-HPRD,BioGRID11076969 
RIC8AMGC104517 | MGC131931 | MGC148073 | MGC148074 | RIC8 | synembrynresistance to inhibitors of cholinesterase 8 homolog A (C. elegans)Two-hybridBioGRID16189514 
SERPINI2MEPI | PANCPIN | PI14 | TSA2004serpin peptidase inhibitor, clade I (pancpin), member 2Two-hybridBioGRID16189514 
SMCR7MGC23130Smith-Magenis syndrome chromosome region, candidate 7Two-hybridBioGRID16189514 
TFF1BCEI | D21S21 | HP1.A | HPS2 | pNR-2 | pS2trefoil factor 1Two-hybridBioGRID16189514 
TMCO6FLJ39769 | PRO1580transmembrane and coiled-coil domains 6Two-hybridBioGRID16189514 
TRIM32BBS11 | HT2A | LGMD2H | TATIPtripartite motif-containing 32Two-hybridBioGRID16189514 
UBQLN1DA41 | DSK2 | FLJ90054 | PLIC-1 | XDRP1ubiquilin 1Two-hybridBioGRID16189514 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID CXCR4 PATHWAY 10278All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS DN 186114All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2A DN 14184All SZGR 2.0 genes in this pathway
APPIERTO RESPONSE TO FENRETINIDE UP 3826All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795478All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
GEISS RESPONSE TO DSRNA UP 3829All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE UP 14985All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
ROME INSULIN TARGETS IN MUSCLE UP 442263All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 11 10368All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway