Summary ?
GeneID60482
SymbolSLC5A7
SynonymsCHT|CHT1|HMN7A
Descriptionsolute carrier family 5 member 7
ReferenceMIM:608761|HGNC:HGNC:14025|Ensembl:ENSG00000115665|HPRD:12294|Vega:OTTHUMG00000130959
Gene typeprotein-coding
Map location2q12
Pascal p-value0.156
DMG1 (# studies)
eGeneMyers' cis & trans
Meta
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IGenome scan meta-analysisPsr: 0.0004 
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00755 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 4 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
SLC5A7chr2108626717GANM_021815p.381M>ImissenseSchizophreniaDNM:Fromer_2014

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg039833362108602542SLC5A73.572E-4-0.4720.042DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs260675chr2109600118SLC5A7604828.89E-6cis
rs734994chr130796504SLC5A7604820.05trans
rs17108402chr153846252SLC5A7604820.12trans
rs17091285chr171957915SLC5A7604820.01trans
rs11162132chr176833107SLC5A7604820.06trans
rs6688662chr176842132SLC5A7604820trans
rs11163032chr180954584SLC5A7604820.11trans
rs7539781chr190856245SLC5A7604820.16trans
rs421660chr191633187SLC5A7604820.16trans
rs12096089chr1112349065SLC5A7604820.08trans
rs1891733chr1164807829SLC5A7604820trans
rs12118136chr1164812580SLC5A7604820trans
rs17392895chr1164814782SLC5A7604820trans
rs512189chr1182632586SLC5A7604823.055E-4trans
rs16823145chr1184397914SLC5A7604820.14trans
rs2096444chr1187436241SLC5A7604820.18trans
rs16849110chr1201567374SLC5A7604820trans
rs7516762chr1202092579SLC5A7604820.16trans
rs17163777chr1223468731SLC5A7604820.15trans
rs6666913chr1237092144SLC5A7604828.445E-10trans
rs16865199chr26621910SLC5A7604820.01trans
rs16865228chr26629622SLC5A7604820.01trans
rs16865230chr26630187SLC5A7604820.01trans
rs11691188chr26631799SLC5A7604820.01trans
rs10209546chr253408320SLC5A7604827.336E-6trans
rs3755119chr253957339SLC5A7604820.01trans
rs2303604chr271828422SLC5A7604820.16trans
rs13401483chr284219167SLC5A7604820.05trans
rs260675chr2109600118SLC5A7604820trans
rs7596511chr2120010898SLC5A7604820.01trans
rs7574824chr2130696073SLC5A7604820.02trans
rs13403353chr2144067716SLC5A7604820.03trans
rs10176716chr2151596595SLC5A7604820.02trans
rs10195263chr2151725791SLC5A7604820.11trans
rs12694629chr2157312146SLC5A7604820.01trans
rs10515928chr2160074898SLC5A7604820trans
rs9287785chr2160075008SLC5A7604820trans
rs10490004chr2160076139SLC5A7604820trans
rs11903200chr2160076308SLC5A7604820trans
rs2241023chr2160081335SLC5A7604820trans
rs10490003chr2160082889SLC5A7604820trans
rs3815475chr2160114314SLC5A7604820.02trans
rs10189317chr2160123106SLC5A7604820trans
rs8179587chr2160187588SLC5A7604820.01trans
rs3755433chr2160269002SLC5A7604820.04trans
rs7589313chr2174771910SLC5A7604820.08trans
rs11884423chr2189086098SLC5A7604820.15trans
rs4453654chr2189185130SLC5A7604820.03trans
rs7587596chr2189361401SLC5A7604820.09trans
rs13413644chr2189475948SLC5A7604820.02trans
rs13397537chr2189737534SLC5A7604820.18trans
rs10510296chr34697202SLC5A7604820.19trans
rs17049214chr38545477SLC5A7604820.09trans
rs9855575chr315514062SLC5A7604820.07trans
rs17015415chr324933888SLC5A7604820.02trans
rs17038645chr339304569SLC5A7604820.14trans
rs7646474chr346011068SLC5A7604820.01trans
rs2109558chr352501615SLC5A7604820.07trans
rs11923953chr364365756SLC5A7604820trans
rs17342237chr365072365SLC5A7604820.06trans
snp_a-19525720SLC5A7604820.14trans
rs6548978chr368139529SLC5A7604820trans
rs17011179chr373501887SLC5A7604820.03trans
rs6784863chr373525073SLC5A7604820.15trans
rs9880961chr374573769SLC5A7604820.16trans
rs7609917chr376094301SLC5A7604825.502E-10trans
rs2324466chr376100753SLC5A7604821.914E-16trans
rs17013713chr376105150SLC5A7604822.987E-16trans
rs17013722chr376107656SLC5A7604821.914E-16trans
rs17013724chr376107684SLC5A7604821.914E-16trans
rs133264240SLC5A7604820.09trans
rs11127757chr382043061SLC5A7604820.04trans
rs1919561chr382067572SLC5A7604820.08trans
rs9876340chr382074984SLC5A7604820.14trans
rs7619146chr382098527SLC5A7604820.03trans
rs7622355chr382107080SLC5A7604820.16trans
rs2178316chr382187874SLC5A7604820.05trans
rs2705554chr3112273545SLC5A7604820.09trans
rs7644174chr3112722325SLC5A7604820.08trans
rs4312656chr3115157721SLC5A7604820.03trans
rs16859029chr3146759514SLC5A7604820.07trans
rs16854658chr3169674405SLC5A7604820.15trans
rs16854694chr3169701831SLC5A7604820.05trans
rs179852chr3172328734SLC5A7604820.09trans
rs16831155chr3173574763SLC5A7604820trans
rs9882442chr3173644484SLC5A7604820.04trans
rs133510190SLC5A7604820.11trans
rs10015205chr426144278SLC5A7604820.11trans
rs16991886chr436048970SLC5A7604820trans
rs126462520SLC5A7604820.03trans
rs1389042chr482973241SLC5A7604820.03trans
rs11734196chr4102796071SLC5A7604820trans
rs10212684chr4102822506SLC5A7604824.351E-4trans
rs7656183chr4114600890SLC5A7604820.03trans
rs17007390chr4124705927SLC5A7604820.01trans
rs681601chr4137983010SLC5A7604820.13trans
rs6858531chr4141053847SLC5A7604820.08trans
rs11937178chr4148847598SLC5A7604820trans
rs11934409chr4148848884SLC5A7604820trans
rs17044232chr4164770343SLC5A7604820.08trans
rs2605050chr4180362144SLC5A7604820trans
rs4301163chr4187861271SLC5A7604820.01trans
rs9986296chr53199318SLC5A7604825.674E-6trans
rs16876290chr55790694SLC5A7604820.11trans
rs2455248chr536478729SLC5A7604820.11trans
rs6897533chr572660099SLC5A7604820.04trans
rs12658469chr572670113SLC5A7604820.03trans
rs2007137chr573094609SLC5A7604820.19trans
rs10072756chr5112995774SLC5A7604820.19trans
rs17502163chr5120026331SLC5A7604820.1trans
rs17149372chr5121907416SLC5A7604820.19trans
rs920385chr5124490714SLC5A7604820.01trans
rs2895773chr5148114635SLC5A7604820trans
rs10059267chr5168676624SLC5A7604820.02trans
rs10078402chr5168678851SLC5A7604820.02trans
rs17077791chr5176616523SLC5A7604820.07trans
rs2281351chr6187343SLC5A7604820.01trans
rs9396617chr615924214SLC5A7604820.02trans
rs199055chr623490116SLC5A7604820.2trans
rs726836chr625843925SLC5A7604820.01trans
rs7740062chr627705597SLC5A7604820.01trans
rs200470chr627762186SLC5A7604820trans
rs201005chr627804159SLC5A7604820trans
rs200955chr627839311SLC5A7604820.01trans
rs200959chr627842046SLC5A7604820.01trans
rs839777chr627909656SLC5A7604820.01trans
rs149898chr627958071SLC5A7604820.01trans
rs156741chr627962383SLC5A7604820.09trans
rs156742chr627963191SLC5A7604820.01trans
rs175955chr628059733SLC5A7604820.01trans
rs1225593chr628150518SLC5A7604820.01trans
rs16894180chr628628465SLC5A7604820.18trans
rs195749chr637253745SLC5A7604821.134E-4trans
rs4435942chr637694937SLC5A7604820.03trans
rs16896683chr643687846SLC5A7604828.012E-4trans
rs16884946chr654056193SLC5A7604820.12trans
rs6936385chr685228895SLC5A7604820.18trans
rs16875134chr685489519SLC5A7604820trans
rs16875178chr685516099SLC5A7604820.01trans
rs7762250chr6144475063SLC5A7604820.05trans
rs11961018chr6145288413SLC5A7604820.12trans
rs9497157chr6145288521SLC5A7604820.05trans
rs3735131chr72962292SLC5A7604820.19trans
rs7808764chr710297264SLC5A7604820.17trans
rs1005524chr720596813SLC5A7604820.01trans
rs17145334chr721808409SLC5A7604820trans
rs17148638chr724065071SLC5A7604820.08trans
rs895578chr735410694SLC5A7604820.02trans
rs2013491chr791946015SLC5A7604820.04trans
rs992435chr797050802SLC5A7604829.471E-4trans
rs7810149chr7111899363SLC5A7604820.15trans
rs17159863chr7112311225SLC5A7604820.07trans
rs10488380chr7131922414SLC5A7604820.17trans
rs12532261chr7132264028SLC5A7604820.03trans
rs12533690chr7132265977SLC5A7604820.01trans
rs952827chr7150176106SLC5A7604820.1trans
rs7810706chr7150831288SLC5A7604820.13trans
rs8190856chr818079123SLC5A7604820.06trans
rs1017329chr840281396SLC5A7604820.02trans
rs16920368chr855392852SLC5A7604821.679E-5trans
rs997574chr861098557SLC5A7604820.2trans
rs10086973chr861105602SLC5A7604820.04trans
rs16927318chr862365911SLC5A7604822.398E-6trans
rs348150chr873371619SLC5A7604823.728E-4trans
rs16938220chr873377940SLC5A7604824.224E-4trans
rs7843769chr883608406SLC5A7604820trans
rs7830923chr883608478SLC5A7604820trans
rs16910790chr883621808SLC5A7604820trans
rs16910793chr883621841SLC5A7604820trans
rs16910802chr883622265SLC5A7604820trans
rs16910804chr883622540SLC5A7604820trans
rs1969215chr8108644706SLC5A7604820.02trans
rs1448721chr8136924784SLC5A7604820.12trans
rs16908622chr8139231604SLC5A7604820.01trans
rs4545144chr8139689307SLC5A7604829.126E-4trans
rs10815658chr97709422SLC5A7604820trans
rs16910463chr926444298SLC5A7604820.15trans
rs1410387chr989359203SLC5A7604820.19trans
rs180038chr9101514415SLC5A7604820trans
rs4742740chr9101524552SLC5A7604820trans
rs4743277chr9101557528SLC5A7604820trans
rs10119434chr9110944789SLC5A7604823.665E-4trans
rs10983187chr9119238934SLC5A7604820.01trans
rs11251091chr102249852SLC5A7604820.01trans
rs17274849chr102738293SLC5A7604820.03trans
rs11007809chr1030209705SLC5A7604820.05trans
rs11190152chr10101325914SLC5A7604820.17trans
rs11193467chr10109217296SLC5A7604820.03trans
rs11193944chr10109948063SLC5A7604820.16trans
rs7920992chr10130402940SLC5A7604820.02trans
rs17233214chr1121367388SLC5A7604820.03trans
rs16911034chr1123302320SLC5A7604820trans
rs10734372chr1126090747SLC5A7604820.15trans
rs17309677chr1127139906SLC5A7604820.16trans
rs3802783chr1127150261SLC5A7604820.14trans
rs17309691chr1127183494SLC5A7604820.15trans
rs12224887chr1137400374SLC5A7604820.03trans
rs1002405chr1185572958SLC5A7604820trans
rs17148600chr1185628826SLC5A7604820.08trans
rs11219646chr11124279239SLC5A7604820.16trans
rs956959chr11124400687SLC5A7604820.01trans
rs11569358chr126553503SLC5A7604820.07trans
rs7311343chr1221228780SLC5A7604820.01trans
rs11177887chr1241093631SLC5A7604820.02trans
rs12305552chr1241797385SLC5A7604820.18trans
rs2069410chr1256364644SLC5A7604828.49E-14trans
rs17120736chr1258785277SLC5A7604820.09trans
rs11115597chr1283509142SLC5A7604826.26E-4trans
rs10746278chr1283789575SLC5A7604820trans
rs7979024chr1284506011SLC5A7604820.02trans
rs11105124chr1289375908SLC5A7604820trans
rs17837122chr1292660211SLC5A7604820.01trans
rs7972610chr1293486183SLC5A7604820.17trans
rs17021407chr1294013807SLC5A7604820.01trans
rs17031683chr12102005385SLC5A7604820.09trans
rs825045chr12102045030SLC5A7604820.04trans
rs6539020chr12102308189SLC5A7604820.03trans
rs4770243chr1322662276SLC5A7604820.02trans
rs1885898chr1322676828SLC5A7604820.11trans
rs1885900chr1322676939SLC5A7604820.11trans
rs1125957chr1322693170SLC5A7604820.11trans
rs17078563chr1323864835SLC5A7604820.02trans
rs9670212chr1329070572SLC5A7604820trans
rs17834315chr1337991091SLC5A7604822.928E-9trans
rs17055627chr1338019666SLC5A7604820.06trans
rs17072833chr1349914392SLC5A7604820.01trans
rs575555chr1352437620SLC5A7604820.01trans
rs11841288chr1360215833SLC5A7604820trans
rs987035chr13106274330SLC5A7604820.01trans
rs16967008chr13106287437SLC5A7604820.02trans
rs16975617chr13110867407SLC5A7604820trans
rs17110779chr1426599617SLC5A7604820.11trans
rs10498433chr1452289530SLC5A7604820trans
rs17091014chr1456562713SLC5A7604820trans
rs10483833chr1471165243SLC5A7604820.03trans
rs2533045chr1472320904SLC5A7604820.16trans
rs1642278chr1487273027SLC5A7604820.16trans
rs1743505chr1496143407SLC5A7604824.771E-4trans
rs6576402chr1525310439SLC5A7604820.15trans
rs16939821chr1558449860SLC5A7604820trans
rs16946329chr1563324362SLC5A7604827.838E-4trans
rs16946913chr1563653889SLC5A7604820trans
rs7174517chr1587256320SLC5A7604820.08trans
rs17694187chr1591881259SLC5A7604820.02trans
rs1036529chr1597071598SLC5A7604820.12trans
rs920567chr1598248480SLC5A7604820.06trans
rs931891chr1598293206SLC5A7604820.07trans
rs6598553chr1599339208SLC5A7604820.07trans
rs962253chr1599339832SLC5A7604820.08trans
rs2684763chr1599365485SLC5A7604820.08trans
rs17634236chr165067148SLC5A7604820.04trans
rs4786811chr166132786SLC5A7604820.05trans
rs17142983chr167294508SLC5A7604826.958E-4trans
rs7196563chr167333407SLC5A7604820.01trans
rs7191914chr167333464SLC5A7604820.01trans
rs11865410chr167333565SLC5A7604820.01trans
rs8056710chr167447629SLC5A7604820trans
rs16972025chr1619461881SLC5A7604820.03trans
rs1557515chr1619462965SLC5A7604820.15trans
rs12596831chr1623385256SLC5A7604820.12trans
snp_a-42502220SLC5A7604820.05trans
rs7195151chr1661082370SLC5A7604820.07trans
rs6499075chr1666387395SLC5A7604820.03trans
rs17666993chr1672146665SLC5A7604820.1trans
rs17667053chr1672147430SLC5A7604820.15trans
rs7192551chr1674750141SLC5A7604820.14trans
rs8051077chr1675036432SLC5A7604820.05trans
rs11648264chr1679085004SLC5A7604820.18trans
rs519507chr1688963599SLC5A7604820.14trans
rs1391765chr178297465SLC5A7604820.02trans
rs17798004chr1870665382SLC5A7604820.01trans
rs17736134chr1870665805SLC5A7604824.865E-4trans
rs2469060chr1870673106SLC5A7604824.865E-4trans
rs2469009chr1870713334SLC5A7604822.864E-4trans
rs9962412chr1873427437SLC5A7604820.04trans
rs9965745chr1873429162SLC5A7604820.05trans
rs1943200chr1873462540SLC5A7604820.05trans
rs8110995chr1940863841SLC5A7604820.17trans
rs2288529chr1955665688SLC5A7604820.12trans
rs12461195chr1955688575SLC5A7604820.11trans
rs73442160SLC5A7604820.01trans
rs6042548chr2014125226SLC5A7604820.04trans
rs4814288chr2014186386SLC5A7604820.01trans
rs65147590SLC5A7604820trans
rs16979534chr2018713087SLC5A7604820.09trans
rs409642chr2054250273SLC5A7604828.373E-5trans
snp_a-20190490SLC5A7604820.02trans
rs7275460chr2141447057SLC5A7604820.01trans
rs2837496chr2141576838SLC5A7604820.07trans
rs2837506chr2141581683SLC5A7604820.07trans
rs17809705chr2218552661SLC5A7604820.12trans
rs16993271chr2234307850SLC5A7604820.03trans
rs17003586chr2243667457SLC5A7604822.765E-4trans
rs2269667chr2243699291SLC5A7604820trans
rs6007794chr2246685016SLC5A7604820.01trans
rs7290732chr2246691902SLC5A7604820trans
rs929048chr2247851756SLC5A7604820.09trans
rs6008234chr2247882762SLC5A7604820.12trans
rs5960312chrX54576348SLC5A7604820.05trans
rs110913320SLC5A7604820.02trans
rs5961111chrX54659538SLC5A7604820.01trans
rs7055735chrX85687566SLC5A7604820.13trans
rs5920627chrX97385064SLC5A7604820.02trans
snp_a-20278250SLC5A7604826.897E-4trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

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:0005307choline:sodium symporter activityIMP12237312 
GO:0005215transporter activityIEA-
GO:0015293symporter activityIEA-
GO:0031402sodium ion bindingIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007274neuromuscular synaptic transmissionIEAneuron, Synap (GO term level: 7)-
GO:0007271synaptic transmission, cholinergicIEAneuron, Cholinergic, Synap, Neurotransmitter (GO term level: 7)-
GO:0008292acetylcholine biosynthetic processIMPNeurotransmitter (GO term level: 10)11068039 
GO:0015871choline transportIEANeurotransmitter (GO term level: 6)-
GO:0006814sodium ion transportIEA-
GO:0006811ion transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016021integral to membraneIDA11027560 
GO:0005886plasma membraneIDA12237312 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RELEASE CYCLE 3430All SZGR 2.0 genes in this pathway
REACTOME ACETYLCHOLINE NEUROTRANSMITTER RELEASE CYCLE 109All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413270All SZGR 2.0 genes in this pathway
REACTOME SLC MEDIATED TRANSMEMBRANE TRANSPORT 241157All SZGR 2.0 genes in this pathway
REACTOME TRANSPORT OF GLUCOSE AND OTHER SUGARS BILE SALTS AND ORGANIC ACIDS METAL IONS AND AMINE COMPOUNDS 8954All SZGR 2.0 genes in this pathway
REACTOME AMINE COMPOUND SLC TRANSPORTERS 2716All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS E UP 9760All SZGR 2.0 genes in this pathway
HATADA METHYLATED IN LUNG CANCER UP 390236All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG RXRA BOUND 8D 882506All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM A 182108All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-13512031209m8hsa-miR-135aUAUGGCUUUUUAUUCCUAUGUGA
hsa-miR-135bUAUGGCUUUUCAUUCCUAUGUG
miR-191381441Ahsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA