Gene Page: DFNB31

Summary ?
GeneID25861
SymbolDFNB31
SynonymsCIP98|PDZD7B|USH2D|WHRN|WI
Descriptiondeafness, autosomal recessive 31
ReferenceMIM:607928|HGNC:HGNC:16361|Ensembl:ENSG00000095397|HPRD:09718|Vega:OTTHUMG00000020539
Gene typeprotein-coding
Map location9q32
Pascal p-value0.415
Fetal beta-1.333
eGeneCaudate basal ganglia
Cerebellar Hemisphere
Cerebellum

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation


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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
B3GNT90.730.81
AMPD30.720.84
HIBADH0.710.75
LGI30.710.85
ACSL60.700.79
APOL20.700.83
C4orf180.700.71
AC004690.20.690.79
CBX70.690.79
GM2A0.690.79
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
KIAA1949-0.61-0.66
NKIRAS2-0.60-0.67
TUBB2B-0.60-0.72
HN1-0.60-0.71
ZNF821-0.59-0.68
CRMP1-0.59-0.66
MPP3-0.59-0.67
TUBB-0.59-0.69
NR2C2AP-0.59-0.72
ZNF300-0.59-0.69

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIEA-
GO:0008022protein C-terminus bindingIPI16434480 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001895retina homeostasisIMP17171570 
GO:0007605sensory perception of soundIMP17171570 
GO:0007601visual perceptionIEA-
GO:0050896response to stimulusIEA-
GO:0060122inner ear receptor stereocilium organizationISS-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0042995cell projectionIEAaxon (GO term level: 4)-
GO:0005737cytoplasmIDA16434480 
GO:0032420stereociliumISS-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
MULLIGHAN NPM1 MUTATED SIGNATURE 1 DN 12686All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 DN 162116All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2A DN 14184All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205145All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 2B 392251All SZGR 2.0 genes in this pathway
ZHAN MULTIPLE MYELOMA MF UP 4727All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN UP 439257All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway