Gene Page: AHSP
Summary ?
| GeneID | 51327 |
| Symbol | AHSP |
| Synonyms | EDRF|ERAF |
| Description | alpha hemoglobin stabilizing protein |
| Reference | MIM:605821|HGNC:HGNC:18075|Ensembl:ENSG00000169877|HPRD:12052|Vega:OTTHUMG00000132461 |
| Gene type | protein-coding |
| Map location | 16p11.2 |
| Pascal p-value | 0.34 |
| Fetal beta | 0.656 |
| DMG | 1 (# studies) |
| eGene | Frontal Cortex BA9 Myers' cis & trans |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| DMG:Wockner_2014 | Genome-wide DNA methylation analysis | This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). | 1 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
| Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
|---|---|---|---|---|---|---|---|
| cg09956747 | 16 | 31538556 | AHSP | 5.936E-4 | 0.414 | 0.05 | DMG:Wockner_2014 |
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| snp_a-1820241 | 0 | AHSP | 51327 | 0.02 | trans | |||
| rs181130 | chr2 | 8273019 | AHSP | 51327 | 0.15 | trans | ||
| rs6430976 | chr2 | 128822384 | AHSP | 51327 | 0.19 | trans | ||
| rs17000340 | chr4 | 76135365 | AHSP | 51327 | 1.103E-4 | trans | ||
| rs7676968 | chr4 | 92725663 | AHSP | 51327 | 0.05 | trans | ||
| rs10094528 | chr8 | 9740328 | AHSP | 51327 | 3.935E-7 | trans | ||
| rs2720589 | chr8 | 17467802 | AHSP | 51327 | 0.06 | trans | ||
| rs17618655 | chr9 | 73983104 | AHSP | 51327 | 0.06 | trans | ||
| rs11014579 | chr10 | 25786907 | AHSP | 51327 | 0.12 | trans | ||
| rs7141752 | chr14 | 78454004 | AHSP | 51327 | 0.04 | trans | ||
| rs2367716 | chrX | 75410637 | AHSP | 51327 | 0.01 | trans |
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 III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0051082 | unfolded protein binding | NAS | 12066189 | |
| GO:0030492 | hemoglobin binding | NAS | 12066189 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006457 | protein folding | IEA | - | |
| GO:0020027 | hemoglobin metabolic process | NAS | 12066189 | |
| GO:0050821 | protein stabilization | IEA | - | |
| GO:0030097 | hemopoiesis | NAS | 12066189 | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005833 | hemoglobin complex | NAS | 12066189 | |
| GO:0005737 | cytoplasm | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| BIOCARTA AMI PATHWAY | 20 | 13 | All SZGR 2.0 genes in this pathway |
| BIOCARTA AHSP PATHWAY | 13 | 6 | All SZGR 2.0 genes in this pathway |
| OSWALD HEMATOPOIETIC STEM CELL IN COLLAGEN GEL UP | 233 | 161 | All SZGR 2.0 genes in this pathway |
| JAATINEN HEMATOPOIETIC STEM CELL DN | 226 | 132 | All SZGR 2.0 genes in this pathway |