Gene Page: BLOC1S2
Summary ?
| GeneID | 282991 |
| Symbol | BLOC1S2 |
| Synonyms | BLOS2|BORCS2|CEAP|CEAP11 |
| Description | biogenesis of lysosomal organelles complex 1 subunit 2 |
| Reference | MIM:609768|HGNC:HGNC:20984|Ensembl:ENSG00000196072|HPRD:12526| |
| Gene type | protein-coding |
| Map location | 10q24.31 |
| Pascal p-value | 1.497E-4 |
| Sherlock p-value | 0.995 |
| Fetal beta | 0.299 |
| eGene | Caudate basal ganglia Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Hippocampus Hypothalamus Putamen basal ganglia Myers' cis & trans Meta |
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 | Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included. | |
| 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 |
|---|---|---|---|---|---|---|---|---|
| rs10883450 | chr10 | 101923420 | BLOC1S2 | 282991 | 0.01 | cis | ||
| rs7358099 | chr10 | 101955001 | BLOC1S2 | 282991 | 0.08 | cis | ||
| rs17668159 | chr10 | 101998829 | BLOC1S2 | 282991 | 0 | cis | ||
| rs7073610 | chr10 | 102006624 | BLOC1S2 | 282991 | 4.874E-4 | cis | ||
| rs7924284 | chr10 | 102018088 | BLOC1S2 | 282991 | 0.05 | cis | ||
| rs6584356 | chr10 | 102050241 | BLOC1S2 | 282991 | 0.03 | cis | ||
| rs17668159 | chr10 | 101998829 | BLOC1S2 | 282991 | 0.14 | trans | ||
| rs7073610 | chr10 | 102006624 | BLOC1S2 | 282991 | 0.04 | trans | ||
| rs3808916 | 10 | 101947737 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 98732 | gtex_brain_putamen_basal |
| rs4917887 | 10 | 101950108 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 96361 | gtex_brain_putamen_basal |
| rs7358099 | 10 | 101955002 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 91467 | gtex_brain_putamen_basal |
| rs11190421 | 10 | 101955612 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 90857 | gtex_brain_putamen_basal |
| rs6584350 | 10 | 101957215 | BLOC1S2 | ENSG00000196072.7 | 2.676E-7 | 0 | 89254 | gtex_brain_putamen_basal |
| rs7911057 | 10 | 101957369 | BLOC1S2 | ENSG00000196072.7 | 2.68E-7 | 0 | 89100 | gtex_brain_putamen_basal |
| rs7922090 | 10 | 101975269 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 71200 | gtex_brain_putamen_basal |
| rs201666900 | 10 | 101976828 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 69641 | gtex_brain_putamen_basal |
| rs3831070 | 10 | 101980571 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 65898 | gtex_brain_putamen_basal |
| rs7093166 | 10 | 101980914 | BLOC1S2 | ENSG00000196072.7 | 8.98E-11 | 0 | 65555 | gtex_brain_putamen_basal |
| rs11190430 | 10 | 101984545 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 61924 | gtex_brain_putamen_basal |
| rs397800071 | 10 | 101984603 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 61866 | gtex_brain_putamen_basal |
| rs12247992 | 10 | 101985087 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 61382 | gtex_brain_putamen_basal |
| rs6584353 | 10 | 101987055 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 59414 | gtex_brain_putamen_basal |
| rs11190431 | 10 | 101997490 | BLOC1S2 | ENSG00000196072.7 | 1.399E-7 | 0 | 48979 | gtex_brain_putamen_basal |
| rs3750709 | 10 | 101998052 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 48417 | gtex_brain_putamen_basal |
| rs12243800 | 10 | 102004155 | BLOC1S2 | ENSG00000196072.7 | 4.186E-7 | 0 | 42314 | gtex_brain_putamen_basal |
| rs2281949 | 10 | 102006402 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 40067 | gtex_brain_putamen_basal |
| rs7916126 | 10 | 102007373 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 39096 | gtex_brain_putamen_basal |
| rs7082753 | 10 | 102008483 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 37986 | gtex_brain_putamen_basal |
| rs370254721 | 10 | 102009232 | BLOC1S2 | ENSG00000196072.7 | 1.042E-9 | 0 | 37237 | gtex_brain_putamen_basal |
| rs34537651 | 10 | 102009233 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 37236 | gtex_brain_putamen_basal |
| rs4919440 | 10 | 102014919 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 31550 | gtex_brain_putamen_basal |
| rs2270962 | 10 | 102016044 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 30425 | gtex_brain_putamen_basal |
| rs7924284 | 10 | 102018089 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 28380 | gtex_brain_putamen_basal |
| rs4919442 | 10 | 102020343 | BLOC1S2 | ENSG00000196072.7 | 2.786E-7 | 0 | 26126 | gtex_brain_putamen_basal |
| rs66728174 | 10 | 102020626 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 25843 | gtex_brain_putamen_basal |
| rs11190443 | 10 | 102023738 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 22731 | gtex_brain_putamen_basal |
| rs11190444 | 10 | 102024352 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 22117 | gtex_brain_putamen_basal |
| rs397746233 | 10 | 102025231 | BLOC1S2 | ENSG00000196072.7 | 1.402E-7 | 0 | 21238 | gtex_brain_putamen_basal |
| rs397721414 | 10 | 102029432 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 17037 | gtex_brain_putamen_basal |
| rs61166818 | 10 | 102032865 | BLOC1S2 | ENSG00000196072.7 | 2.644E-7 | 0 | 13604 | gtex_brain_putamen_basal |
| rs398046205 | 10 | 102034062 | BLOC1S2 | ENSG00000196072.7 | 2.814E-7 | 0 | 12407 | gtex_brain_putamen_basal |
| rs12253275 | 10 | 102043477 | BLOC1S2 | ENSG00000196072.7 | 1.555E-8 | 0 | 2992 | gtex_brain_putamen_basal |
| rs71488053 | 10 | 102044312 | BLOC1S2 | ENSG00000196072.7 | 5.208E-11 | 0 | 2157 | gtex_brain_putamen_basal |
| rs1809105 | 10 | 102049061 | BLOC1S2 | ENSG00000196072.7 | 4.644E-8 | 0 | -2592 | gtex_brain_putamen_basal |
| rs2242053 | 10 | 102050347 | BLOC1S2 | ENSG00000196072.7 | 3.929E-7 | 0 | -3878 | gtex_brain_putamen_basal |
| rs2242052 | 10 | 102050514 | BLOC1S2 | ENSG00000196072.7 | 4.778E-7 | 0 | -4045 | gtex_brain_putamen_basal |
| rs5787377 | 10 | 102050971 | BLOC1S2 | ENSG00000196072.7 | 1.135E-6 | 0 | -4502 | gtex_brain_putamen_basal |
| rs67755402 | 10 | 102050972 | BLOC1S2 | ENSG00000196072.7 | 1.081E-6 | 0 | -4503 | gtex_brain_putamen_basal |
| rs11427416 | 10 | 102050973 | BLOC1S2 | ENSG00000196072.7 | 1.135E-6 | 0 | -4504 | gtex_brain_putamen_basal |
| rs11190456 | 10 | 102051763 | BLOC1S2 | ENSG00000196072.7 | 1.369E-8 | 0 | -5294 | gtex_brain_putamen_basal |
| rs12241379 | 10 | 102052373 | BLOC1S2 | ENSG00000196072.7 | 1.369E-8 | 0 | -5904 | gtex_brain_putamen_basal |
| rs11190457 | 10 | 102053720 | BLOC1S2 | ENSG00000196072.7 | 6.884E-9 | 0 | -7251 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
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 V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| BRUINS UVC RESPONSE LATE | 1137 | 655 | All SZGR 2.0 genes in this pathway |
| KOINUMA TARGETS OF SMAD2 OR SMAD3 | 824 | 528 | All SZGR 2.0 genes in this pathway |
| PURBEY TARGETS OF CTBP1 NOT SATB1 DN | 448 | 282 | All SZGR 2.0 genes in this pathway |
| GHANDHI DIRECT IRRADIATION UP | 110 | 68 | All SZGR 2.0 genes in this pathway |
| WARTERS RESPONSE TO IR SKIN | 83 | 44 | All SZGR 2.0 genes in this pathway |
| WARTERS IR RESPONSE 5GY | 47 | 23 | All SZGR 2.0 genes in this pathway |