Summary ?
GeneID116369
SymbolSLC26A8
SynonymsSPGF3|TAT1
Descriptionsolute carrier family 26 member 8
ReferenceMIM:608480|HGNC:HGNC:14468|Ensembl:ENSG00000112053|HPRD:12241|Vega:OTTHUMG00000014586
Gene typeprotein-coding
Map location6p21
Pascal p-value0.48
Sherlock p-value0.206
Fetal beta-0.493
eGeneCerebellar Hemisphere
Cerebellum
Myers' cis & trans
Meta
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
DNM:Xu_2012Whole Exome Sequencing analysisDe novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
GSMA_IGenome scan meta-analysisPsr: 0.033 
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.04433 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
SLC26A8chr635927251CTNM_001193476
NM_052961
NM_138718
p.617E>K
p.617E>K
p.512E>K
missense
missense
missense
SchizophreniaDNM:Xu_2012

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs73705640SLC26A81163690.18trans

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 III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005254chloride channel activityIDA1183472 
GO:0005215transporter activityIEA-
GO:0015380anion exchanger activityIEA-
GO:0015116sulfate transmembrane transporter activityIDA1183472 
GO:0019531oxalate transmembrane transporter activityIDA1183472 
GO:0047485protein N-terminus bindingIPI11278976 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007283spermatogenesisIEA-
GO:0007126meiosisIEA-
GO:0008272sulfate transportIDA1183472 
GO:0006821chloride transportIDA1183472 
GO:0006811ion transportIEA-
GO:0007275multicellular organismal developmentIEA-
GO:0030154cell differentiationIEA-
GO:0019532oxalate transportIDA1183472 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016021integral to membraneIEA-
GO:0005886plasma membraneIDA11278976 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER WITH H3K9ME3 DN 12071All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536296All SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3 UNMETHYLATED 228119All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway