Gene Page:SCN1A

概括?
基因 6323
Symbol SCN1A
Synonyms EIEE6|FEB3|FEB3A|FHM3|GEFSP2|HBSCI|NAC1|Nav1.1|SCN1|SMEI
Description sodium voltage-gated channel alpha subunit 1
Reference MIM:182389|HGNC: HGNC: 10585|Ensembl:ENSG00000144285|HPRD:01669|Vega:OTTHUMG00000044173
Gene type protein-coding
Map location 2q24.3
Pascal p-value 6.973E-4
Sherlock p-value 0.091
Fetal beta -1.752
eGene Cortex
Nucleus accumbens basal ganglia
Myers' cis & trans
Support EXCITABILITY

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
PMID:cooccur High-throughput literature-search 系统搜索PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIA Genome scan meta-analysis (All samples) Psr: 0.02395
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs1523756 chr3 77596678 SCN1A 6323 0.12 trans
rs1324669 chr13 107872446 SCN1A 6323 0.03 trans
rs17686192 chr17 60992355 SCN1A 6323 0.01 trans
rs17759603 chr17 60999051 SCN1A 6323 0.04 trans

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 function 去的术语 Evidence Neuro keywords PubMed ID
GO:0005244 voltage-gated ion channel activity IEA -
GO:0005248 voltage-gated sodium channel activity NAS 10742094
GO：0031402 sodium ion binding IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0006814 sodium ion transport NAS 10742094
GO:0006811 ion transport IEA -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0001518 voltage-gated sodium channel complex IEA -
去：0016020 membrane IEA -
GO：0016021 integral to membrane NAS -

Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
CHESLER BRAIN HIGHEST EXPRESSION 40 29 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
MCCLUNG DELTA FOSB TARGETS 2WK 48 36 All SZGR 2.0 genes in this pathway
RIGGINS TAMOXIFEN RESISTANCE DN 220 147 All SZGR 2.0 genes in this pathway
MIKKELSEN MEF ICP WITH H3K27ME3 206 108 All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3 718 401 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-101 1426 1432 1A hsa-miR-101 UACAGUACUGUGAUAACUGAAG
miR-132/212 101 107 m8 hsa-miR-212SZ UAACAGUCUCCAGUCACGGCC
hsa-miR-132brain UAACAGUCUACAGCCAUGGUCG
miR-137 1271 1278 1A,m8 hsa-miR-137 UAUUGCUUAAGAAUACGCGUAG
miR-142-5p 882 888 1A hsa-miR-142-5p CAUAAAGUAGAAAGCACUAC
miR-144 1425 1432 1A,m8 hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
miR-149 1343 1349 1A hsa-miR-149brain UCUGGCUCCGUGUCUUCACUCC
miR-17-5p/20/93.mr/106/519.d 326 332 1A hsa-miR-17-5p CAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrain UAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106a AAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZ UAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZ CAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519d CAAAGUGCCUCCCUUUAGAGUGU
hsa-miR-17-5p CAAAGUGCUUACAGUGCAGGUAGU
hsa-miR-20abrain UAAAGUGCUUAUAGUGCAGGUAG
hsa-miR-106a AAAAGUGCUUACAGUGCAGGUAGC
hsa-miR-106bSZ UAAAGUGCUGACAGUGCAGAU
hsa-miR-20bSZ CAAAGUGCUCAUAGUGCAGGUAG
hsa-miR-519d CAAAGUGCCUCCCUUUAGAGUGU
miR-182 92 98 1A hsa-miR-182 UUUGGCAAUGGUAGAACUCACA
miR-200bc/429 1036 1042 m8 hsa-miR-200b UAAUACUGCCUGGUAAUGAUGAC
hsa-miR-200c UAAUACUGCCGGGUAAUGAUGG
hsa-miR-429 UAAUACUGUCUGGUAAAACCGU
miR-214 233 239 1A hsa-miR-214brain ACAGCAGGCACAGACAGGCAG
miR-218 1031 1037 m8 hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-223 97 103 m8 hsa-miR-223 UGUCAGUUUGUCAAAUACCCC
miR-27 44 50 1A hsa-miR-27abrain UUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrain UUCACAGUGGCUAAGUUCUGC
miR-30-5p 34 41 1A,m8 hsa-miR-30a-5p UGUAAACAUCCUCGACUGGAAG
hsa-miR-30cbrain uguaaacauccuacucucucucucagc
hsa-miR-30dSZ uguaaacauccccgacuggaag
hsa-miR-30bSZ UGUAAACAUCCUACACUCAGCU
hsa-miR-30e-5p UGUAAACAUCCUUGACUGGA
miR-34/449 365 371 1A hsa-miR-34abrain UGGCAGUGUCUUAGCUGGUUGUU
hsa-miR-34c AGGCAGUGUAGUUAGCUGAUUGC
hsa-miR-449 UGGCAGUGUAUUGUUAGCUGGU
hsa-miR-449b AGGCAGUGUAUUGUUAGCUGGC
miR-363 751 757 1A hsa-miR-363 AUUGCACGGUAUCCAUCUGUAA
hsa-miR-363 AUUGCACGGUAUCCAUCUGUAA
miR-452 1013 1019 1A hsa-miR-452 UGUUUGCAGAGGAAACUGAGAC
hsa-miR-452 UGUUUGCAGAGGAAACUGAGAC
miR-493-5p 1463 1469 m8 hsa-miR-493-5p UUGUACAUGGUAGGCUUUCAUU
miR-500 749 756 1A,m8 hsa-miR-500 AUGCACCUGGGCAAGGAUUCUG
mir-96 92 98 1A hsa-miR-96brain UUUGGCACUAGCACAUUUUUGC