Gene Page: STON1
Summary ?
| GeneID | 11037 |
| Symbol | STON1 |
| Synonyms | SALF|SBLF|STN1|STNB1 |
| Description | stonin 1 |
| Reference | MIM:605357|HGNC:HGNC:17003|Ensembl:ENSG00000243244|HPRD:16100|Vega:OTTHUMG00000129169 |
| Gene type | protein-coding |
| Map location | 2p16.3 |
| Pascal p-value | 0.004 |
| Sherlock p-value | 0.53 |
| eGene | Caudate basal ganglia Cerebellum Cortex Frontal Cortex BA9 Hippocampus Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS |
Section I. Genetics and epigenetics annotation
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs3769467 | chr2 | 201205340 | STON1 | 11037 | 1.349E-4 | trans | ||
| rs3769461 | chr2 | 201222657 | STON1 | 11037 | 1.349E-4 | trans | ||
| rs3772721 | chr3 | 182763651 | STON1 | 11037 | 0.14 | trans | ||
| rs9851931 | chr3 | 191826057 | STON1 | 11037 | 0.03 | trans | ||
| rs3777860 | chr6 | 133756499 | STON1 | 11037 | 0.18 | trans | ||
| rs12665690 | chr6 | 133759486 | STON1 | 11037 | 0.18 | trans | ||
| rs763641 | chr11 | 123846625 | STON1 | 11037 | 0.03 | trans | ||
| rs4614855 | chr19 | 3487326 | STON1 | 11037 | 0.06 | trans | ||
| rs4953593 | 2 | 48780022 | STON1 | ENSG00000243244.1 | 3.338E-7 | 0 | 22712 | gtex_brain_putamen_basal |
| rs11125176 | 2 | 48780927 | STON1 | ENSG00000243244.1 | 9.678E-7 | 0 | 23617 | gtex_brain_putamen_basal |
| rs6737732 | 2 | 48785276 | STON1 | ENSG00000243244.1 | 3.823E-7 | 0 | 27966 | gtex_brain_putamen_basal |
| rs76033316 | 2 | 48786180 | STON1 | ENSG00000243244.1 | 3.811E-7 | 0 | 28870 | gtex_brain_putamen_basal |
| rs200619386 | 2 | 48786182 | STON1 | ENSG00000243244.1 | 3.806E-7 | 0 | 28872 | gtex_brain_putamen_basal |
| rs138564679 | 2 | 48786183 | STON1 | ENSG00000243244.1 | 3.799E-7 | 0 | 28873 | gtex_brain_putamen_basal |
| rs12999304 | 2 | 48786743 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 29433 | gtex_brain_putamen_basal |
| rs11681868 | 2 | 48787040 | STON1 | ENSG00000243244.1 | 5.817E-7 | 0 | 29730 | gtex_brain_putamen_basal |
| rs2293274 | 2 | 48787134 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 29824 | gtex_brain_putamen_basal |
| rs2293272 | 2 | 48787733 | STON1 | ENSG00000243244.1 | 4.774E-8 | 0 | 30423 | gtex_brain_putamen_basal |
| rs2293270 | 2 | 48788000 | STON1 | ENSG00000243244.1 | 4.774E-8 | 0 | 30690 | gtex_brain_putamen_basal |
| rs12992870 | 2 | 48789195 | STON1 | ENSG00000243244.1 | 1.787E-7 | 0 | 31885 | gtex_brain_putamen_basal |
| rs6729860 | 2 | 48790727 | STON1 | ENSG00000243244.1 | 5.748E-7 | 0 | 33417 | gtex_brain_putamen_basal |
| rs148704945 | 2 | 48790832 | STON1 | ENSG00000243244.1 | 3.166E-7 | 0 | 33522 | gtex_brain_putamen_basal |
| rs13034063 | 2 | 48791553 | STON1 | ENSG00000243244.1 | 3.993E-7 | 0 | 34243 | gtex_brain_putamen_basal |
| rs13014112 | 2 | 48792164 | STON1 | ENSG00000243244.1 | 4.741E-8 | 0 | 34854 | gtex_brain_putamen_basal |
| rs6709043 | 2 | 48792443 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 35133 | gtex_brain_putamen_basal |
| rs2177489 | 2 | 48792568 | STON1 | ENSG00000243244.1 | 4.774E-8 | 0 | 35258 | gtex_brain_putamen_basal |
| rs6712592 | 2 | 48793113 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 35803 | gtex_brain_putamen_basal |
| rs6741341 | 2 | 48793315 | STON1 | ENSG00000243244.1 | 4.774E-8 | 0 | 36005 | gtex_brain_putamen_basal |
| rs2349098 | 2 | 48794283 | STON1 | ENSG00000243244.1 | 5.747E-7 | 0 | 36973 | gtex_brain_putamen_basal |
| rs6727929 | 2 | 48795109 | STON1 | ENSG00000243244.1 | 1.062E-7 | 0 | 37799 | gtex_brain_putamen_basal |
| rs13025488 | 2 | 48795800 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 38490 | gtex_brain_putamen_basal |
| rs6732365 | 2 | 48796407 | STON1 | ENSG00000243244.1 | 2.611E-7 | 0 | 39097 | gtex_brain_putamen_basal |
| rs12990079 | 2 | 48797923 | STON1 | ENSG00000243244.1 | 5.747E-7 | 0 | 40613 | gtex_brain_putamen_basal |
| rs11681276 | 2 | 48798705 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 41395 | gtex_brain_putamen_basal |
| rs11681426 | 2 | 48798996 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 41686 | gtex_brain_putamen_basal |
| rs6712724 | 2 | 48799042 | STON1 | ENSG00000243244.1 | 2.753E-7 | 0 | 41732 | gtex_brain_putamen_basal |
| rs13027618 | 2 | 48799975 | STON1 | ENSG00000243244.1 | 2.823E-7 | 0 | 42665 | gtex_brain_putamen_basal |
| rs13010692 | 2 | 48800667 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 43357 | gtex_brain_putamen_basal |
| rs13034951 | 2 | 48800886 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 43576 | gtex_brain_putamen_basal |
| rs11676150 | 2 | 48802357 | STON1 | ENSG00000243244.1 | 5.758E-7 | 0 | 45047 | gtex_brain_putamen_basal |
| rs11693429 | 2 | 48802476 | STON1 | ENSG00000243244.1 | 5.758E-7 | 0 | 45166 | gtex_brain_putamen_basal |
| rs62135230 | 2 | 48802819 | STON1 | ENSG00000243244.1 | 1.034E-6 | 0 | 45509 | gtex_brain_putamen_basal |
| rs200655510 | 2 | 48802896 | STON1 | ENSG00000243244.1 | 7.267E-7 | 0 | 45586 | gtex_brain_putamen_basal |
| rs188314488 | 2 | 48802898 | STON1 | ENSG00000243244.1 | 1.026E-6 | 0 | 45588 | gtex_brain_putamen_basal |
| rs62135231 | 2 | 48803491 | STON1 | ENSG00000243244.1 | 2.831E-7 | 0 | 46181 | gtex_brain_putamen_basal |
| rs62135232 | 2 | 48803848 | STON1 | ENSG00000243244.1 | 2.83E-7 | 0 | 46538 | gtex_brain_putamen_basal |
| rs62135233 | 2 | 48803932 | STON1 | ENSG00000243244.1 | 2.829E-7 | 0 | 46622 | gtex_brain_putamen_basal |
| rs56111874 | 2 | 48804147 | STON1 | ENSG00000243244.1 | 2.816E-7 | 0 | 46837 | gtex_brain_putamen_basal |
| rs55700200 | 2 | 48804179 | STON1 | ENSG00000243244.1 | 2.816E-7 | 0 | 46869 | gtex_brain_putamen_basal |
| rs62135236 | 2 | 48804652 | STON1 | ENSG00000243244.1 | 2.984E-7 | 0 | 47342 | gtex_brain_putamen_basal |
| rs66888174 | 2 | 48804776 | STON1 | ENSG00000243244.1 | 8.816E-8 | 0 | 47466 | gtex_brain_putamen_basal |
| rs72824120 | 2 | 48805079 | STON1 | ENSG00000243244.1 | 2.831E-7 | 0 | 47769 | gtex_brain_putamen_basal |
| rs13030948 | 2 | 48805294 | STON1 | ENSG00000243244.1 | 4.131E-7 | 0 | 47984 | gtex_brain_putamen_basal |
| rs13031184 | 2 | 48805365 | STON1 | ENSG00000243244.1 | 2.827E-7 | 0 | 48055 | gtex_brain_putamen_basal |
| rs6722556 | 2 | 48806235 | STON1 | ENSG00000243244.1 | 2.838E-7 | 0 | 48925 | gtex_brain_putamen_basal |
| rs6741677 | 2 | 48807170 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 49860 | gtex_brain_putamen_basal |
| rs2103112 | 2 | 48807283 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 49973 | gtex_brain_putamen_basal |
| rs2882084 | 2 | 48807331 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 50021 | gtex_brain_putamen_basal |
| rs55641971 | 2 | 48807405 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 50095 | gtex_brain_putamen_basal |
| rs17039250 | 2 | 48807796 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 50486 | gtex_brain_putamen_basal |
| rs3828340 | 2 | 48807976 | STON1 | ENSG00000243244.1 | 4.774E-8 | 0 | 50666 | gtex_brain_putamen_basal |
| rs940389 | 2 | 48808152 | STON1 | ENSG00000243244.1 | 5.823E-7 | 0 | 50842 | gtex_brain_putamen_basal |
| rs3749144 | 2 | 48808882 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 51572 | gtex_brain_putamen_basal |
| rs3749145 | 2 | 48808898 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 51588 | gtex_brain_putamen_basal |
| rs3792236 | 2 | 48809873 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 52563 | gtex_brain_putamen_basal |
| rs12992755 | 2 | 48810117 | STON1 | ENSG00000243244.1 | 1.787E-7 | 0 | 52807 | gtex_brain_putamen_basal |
| rs13016899 | 2 | 48810408 | STON1 | ENSG00000243244.1 | 5.829E-7 | 0 | 53098 | gtex_brain_putamen_basal |
| rs11680574 | 2 | 48810616 | STON1 | ENSG00000243244.1 | 2.828E-7 | 0 | 53306 | gtex_brain_putamen_basal |
| rs6742725 | 2 | 48811081 | STON1 | ENSG00000243244.1 | 1.683E-7 | 0 | 53771 | gtex_brain_putamen_basal |
| rs6757847 | 2 | 48811149 | STON1 | ENSG00000243244.1 | 2.822E-7 | 0 | 53839 | gtex_brain_putamen_basal |
| rs10495953 | 2 | 48811854 | STON1 | ENSG00000243244.1 | 7.085E-8 | 0 | 54544 | gtex_brain_putamen_basal |
| rs4566410 | 2 | 48811883 | STON1 | ENSG00000243244.1 | 4.133E-7 | 0 | 54573 | gtex_brain_putamen_basal |
| rs11693559 | 2 | 48811948 | STON1 | ENSG00000243244.1 | 4.133E-7 | 0 | 54638 | gtex_brain_putamen_basal |
| rs11693691 | 2 | 48812064 | STON1 | ENSG00000243244.1 | 4.343E-7 | 0 | 54754 | gtex_brain_putamen_basal |
| rs11678306 | 2 | 48812131 | STON1 | ENSG00000243244.1 | 4.343E-7 | 0 | 54821 | gtex_brain_putamen_basal |
| rs55858189 | 2 | 48812554 | STON1 | ENSG00000243244.1 | 7.077E-8 | 0 | 55244 | gtex_brain_putamen_basal |
| rs11683611 | 2 | 48812560 | STON1 | ENSG00000243244.1 | 4.133E-7 | 0 | 55250 | gtex_brain_putamen_basal |
| rs3792237 | 2 | 48812828 | STON1 | ENSG00000243244.1 | 4.133E-7 | 0 | 55518 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
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 | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| OAF | 0.88 | 0.88 |
| GLUL | 0.85 | 0.78 |
| MERTK | 0.84 | 0.84 |
| GRIN2C | 0.82 | 0.85 |
| ACSBG1 | 0.81 | 0.82 |
| SLC25A18 | 0.81 | 0.85 |
| HSD17B6 | 0.81 | 0.84 |
| SELENBP1 | 0.80 | 0.85 |
| SLC13A5 | 0.80 | 0.82 |
| SLCO1C1 | 0.79 | 0.80 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| C6orf168 | -0.60 | -0.73 |
| MLLT11 | -0.58 | -0.75 |
| SPATS2 | -0.58 | -0.74 |
| RAB35 | -0.58 | -0.75 |
| MED19 | -0.58 | -0.74 |
| DYNC1LI1 | -0.57 | -0.69 |
| NOP56 | -0.57 | -0.71 |
| PPP3CC | -0.57 | -0.75 |
| PREP | -0.57 | -0.69 |
| EIF4E2 | -0.57 | -0.74 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG BASAL TRANSCRIPTION FACTORS | 36 | 24 | All SZGR 2.0 genes in this pathway |
| HOOI ST7 TARGETS DN | 123 | 78 | All SZGR 2.0 genes in this pathway |
| CASORELLI ACUTE PROMYELOCYTIC LEUKEMIA DN | 663 | 425 | All SZGR 2.0 genes in this pathway |
| HORIUCHI WTAP TARGETS DN | 310 | 188 | All SZGR 2.0 genes in this pathway |
| SHEN SMARCA2 TARGETS UP | 424 | 268 | All SZGR 2.0 genes in this pathway |
| CUI TCF21 TARGETS 2 DN | 830 | 547 | All SZGR 2.0 genes in this pathway |
| BROWNE HCMV INFECTION 14HR DN | 298 | 200 | All SZGR 2.0 genes in this pathway |
| BROWNE HCMV INFECTION 6HR DN | 160 | 101 | All SZGR 2.0 genes in this pathway |
| GAVIN FOXP3 TARGETS CLUSTER T4 | 94 | 69 | All SZGR 2.0 genes in this pathway |
| GAVIN FOXP3 TARGETS CLUSTER P4 | 100 | 62 | All SZGR 2.0 genes in this pathway |
| RUIZ TNC TARGETS UP | 153 | 107 | All SZGR 2.0 genes in this pathway |
| MILI PSEUDOPODIA HAPTOTAXIS UP | 518 | 299 | All SZGR 2.0 genes in this pathway |
| MILI PSEUDOPODIA HAPTOTAXIS DN | 668 | 419 | All SZGR 2.0 genes in this pathway |
| HIRSCH CELLULAR TRANSFORMATION SIGNATURE UP | 242 | 159 | All SZGR 2.0 genes in this pathway |
| DUTERTRE ESTRADIOL RESPONSE 6HR DN | 91 | 56 | All SZGR 2.0 genes in this pathway |
| DUTERTRE ESTRADIOL RESPONSE 24HR DN | 505 | 328 | All SZGR 2.0 genes in this pathway |
| RATTENBACHER BOUND BY CELF1 | 467 | 251 | All SZGR 2.0 genes in this pathway |