Summary?
GeneID 6640
Symbol SNTA1
Synonyms LQT12|SNT1|TACIP1|dJ1187J4.5
Description syntrophin alpha 1
Reference MIM:601017|HGNC:HGNC:11167|Ensembl:ENSG00000101400|HPRD:03009|Vega:OTTHUMG00000032259
Gene type protein-coding
Map location 20q11.2
Pascal p-value 0.421
Sherlock p-value 0.057
Fetal beta -1.849
DMG 1 (# studies)
eGene
Support G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
CompositeSet

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:vanEijk_2014 Genome-wide DNA methylation analysis This dataset includes 432 differentially methylated CpG sites corresponding to 391 unique transcripts between schizophrenia patients (n=260) and unaffected controls (n=250). 1
DNM:Fromer_2014 Whole Exome Sequencing analysis This study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 2
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 0.0279

Section I. Genetics and epigenetics annotation

@DNM table

Gene Chromosome Position Ref 一个lt Transcript 一个一个change Mutation type Sift CG46 Trait Study
SNTA1 chr20 31997942 T C NM_003098
NM_003098
.
.
silent
splice-donor-ex2ag
Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg15056412 20 32262523 SNTA1 0.001 6.267 DMG:vanEijk_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
一个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.

没有大脑中的基因区域


Section III. Gene Ontology annotation

Molecular function GO term Evidence Neuro keywords PubMed ID
GO:0003779 actin binding IEA -
GO:0005509 calcium ion binding IEA -
GO:0005516 calmodulin binding IEA -
Biological process GO term Evidence Neuro keywords PubMed ID
GO:0007528 neuromuscular junction development IEA Synap (GO term level: 10) -
GO:0006936 muscle contraction TAS 8576247
Cellular component GO term Evidence Neuro keywords PubMed ID
GO:0045211 postsynaptic membrane IEA Synap, Neurotransmitter (GO term level: 5) -
GO:0005856 cytoskeleton IEA -
GO:0005737 cytoplasm IEA -
GO:0042383 sarcolemma IEA -
GO:0030054 cell junction IEA -

Section IV. Protein-protein interaction annotation

Interactors 一个liases B Official full name B Experimental Source PubMed ID
CALM1 CALML2 | CAMI | DD132 | PHKD calmodulin 1 (phosphorylase kinase, delta) - HPRD 9512352
DGKZ DAGK5 | DAGK6 | DGK-ZETA | hDGKzeta diacylglycerol kinase, zeta 104kDa - HPRD,BioGRID 11352924
DMD BMD | CMD3B | DXS142 | DXS164 | DXS206 | DXS230 | DXS239 | DXS268 | DXS269 | DXS270 | DXS272 dystrophin - HPRD,BioGRID 7890602
DTNA D18S892E | DRP3 | DTN | FLJ96209 | LVNC1 dystrobrevin, alpha - HPRD 12206805
DTNA D18S892E | DRP3 | DTN | FLJ96209 | LVNC1 dystrobrevin, alpha - HPRD 11069112|12206805|12206805
DTNB MGC17163 | MGC57126 dystrobrevin, beta 一个ffinity Capture-Western BioGRID 10545507
GLS 一个一个D20 | DKFZp686O15119 | FLJ10358 | GLS1 | KIAA0838 glutaminase - HPRD,BioGRID 11163757
GRB2 一个SH | EGFRBP-GRB2 | Grb3-3 | MST084 | MSTP084 growth factor receptor-bound protein 2 - HPRD,BioGRID 11278583|11551227
KCNJ12 FLJ14167 | IRK2 | KCNJN1 | Kir2.2 | Kir2.2v | hIRK | hIRK1 | hkir2.2x | kcnj12x potassium inwardly-rectifying channel, subfamily J, member 12 - HPRD,BioGRID 15024025
KCNJ4 HIR | HIRK2 | HRK1 | IRK3 | Kir2.3 | MGC142066 | MGC142068 potassium inwardly-rectifying channel, subfamily J, member 4 一个ffinity Capture-Western BioGRID 15024025
MAPK12 ERK3 | ERK6 | P38GAMMA | PRKM12 | SAPK-3 | SAPK3 mitogen-activated protein kinase 12 一个ffinity Capture-Western
Biochemical Activity
Two-hybrid
BioGRID 10212242
NOS1 IHPS1 | NOS | nNOS nitric oxide synthase 1 (neuronal) - HPRD 11747091
NOS1 IHPS1 | NOS | nNOS nitric oxide synthase 1 (neuronal) Reconstituted Complex BioGRID 9412493
SCN1A FEB3 | GEFSP2 | HBSCI | NAC1 | Nav1.1 | SCN1 | SMEI sodium channel, voltage-gated, type I, alpha subunit 一个ffinity Capture-Western
Protein-peptide
BioGRID 9412493
SCN5A CDCD2 | CMD1E | CMPD2 | HB1 | HB2 | HBBD | HH1 | ICCD | IVF | LQT3 | Nav1.5 | PFHB1 | SSS1 sodium channel, voltage-gated, type V, alpha subunit 一个ffinity Capture-Western
Protein-peptide
BioGRID 9412493
UTRN DMDL | DRP | DRP1 | FLJ23678 utrophin - HPRD,BioGRID 8576247
XRCC6 CTC75 | CTCBF | G22P1 | KU70 | ML8 | TLAA X-ray repair complementing defective repair in Chinese hamster cells 6 Two-hybrid BioGRID 16169070


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
PID P38 GAMMA DELTA PATHWAY 11 9 一个ll SZGR 2.0 genes in this pathway
DEURIG T细胞PROLYMPHOCYTIC白血病 368 234 一个ll SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN UP 184 125 一个ll SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530 342 一个ll SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN 232 154 一个ll SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 UP 329 196 一个ll SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS F UP 185 119 一个ll SZGR 2.0 genes in this pathway
LUI THYROID CANCER PAX8 PPARG DN 45 29 一个ll SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR UP 487 286 一个ll SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412 249 一个ll SZGR 2.0 genes in this pathway
YAGI AML FAB MARKERS 191 131 一个ll SZGR 2.0 genes in this pathway
MOREAUX B LYMPHOCYTE MATURATION BY TACI UP 92 58 一个ll SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 1691 1088 一个ll SZGR 2.0 genes in this pathway
LEE AGING CEREBELLUM UP 84 58 一个ll SZGR 2.0 genes in this pathway
KAYO CALORIE RESTRICTION MUSCLE UP 95 64 一个ll SZGR 2.0 genes in this pathway
JIANG HYPOXIA NORMAL 311 205 一个ll SZGR 2.0 genes in this pathway
HELLER HDAC TARGETS UP 317 208 一个ll SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME2 491 319 一个ll SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP 756 494 一个ll SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP 682 440 一个ll SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL 162 122 一个ll SZGR 2.0 genes in this pathway
GREGORY SYNTHETIC LETHAL WITH IMATINIB 145 83 一个ll SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS UP 217 131 一个ll SZGR 2.0 genes in this pathway
WIERENGA STAT5A TARGETS GROUP1 136 76 一个ll SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770 480 一个ll 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-124/506 234 240 m8 hsa-miR-506 UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brain UAAGGCACGCGGUGAAUGCC
miR-135 268 274 m8 hsa-miR-135a UAUGGCUUUUUAUUCCUAUGUGA
hsa-miR-135b UAUGGCUUUUCAUUCCUAUGUG
miR-185 488 494 m8 hsa-miR-185brain UGGAGAGAAAGGCAGUUC
miR-34b 67 73 m8 hsa-miR-34b UAGGCAGUGUCAUUAGCUGAUUG