Gene Information
|
Gene Name
|
ASPH |
|
Gene ID
|
444
|
|
Gene Full Name
|
aspartate beta-hydroxylase |
|
Gene Alias
|
AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin |
|
Transcripts
|
ENSG00000198363
|
|
Virus
|
HPV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Endoplasmic reticulum; 
|
|
Membrane Info
|
Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
Q12797
|
|
HGNC ID
|
HGNC:757
|
|
OMIM ID
|
600582 |
|
Summary
|
This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 2009] |
Target gene [ASPH] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 5002260 |
chr8 |
13 |
0 |
0 |
13 |
View |
| 5010518 |
chr8 |
84 |
16 |
2 |
102 |
View |
Target gene [ASPH] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE183048
|
Chip-seq |
24 |
Illumina HiSeq 4000 (Homo sapiens) |
|
GSE226620
|
scRNA-seq |
30 |
HiSeq X Ten (Homo sapiens) |
|
GSE40774
|
Expression array |
134 |
Agilent-026652 Whole Human Genome Microarray 4x44K v2 (Probe Name version) |
|
GSE139324
|
scRNA-seq |
63 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE169622
|
Methylation profiling (Array) |
9 |
Infinium MethylationEPIC |
|
GSE65858
|
Expression array |
270 |
Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE181805
|
Expression array |
25 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE196215
|
RNA-seq |
8 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE164690
|
scRNA-seq |
51 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE138080
|
Expression array |
35 |
Agilent-014850 Whole Human Genome Microarray 4x44K G4112F (Feature Number version) |
|
GSE140662
|
Expression array |
8 |
[HTA-2_0] Affymetrix Human Transcriptome Array 2.0 [transcript (gene) version] |
|
GSE55542
|
Expression array |
36 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
C GSE143026
|
ATAC-seq;Chip-seq;RNA-seq |
30 |
Illumina HiSeq 2500 (Homo sapiens) |
|
TCGA_CESC
|
DNA methylation sequencing;RNA-seq |
288 |
TCGA |
|
GSE51993
|
Expression array |
48 |
Illumina Human v2 MicroRNA expression beadchip;Illumina HumanHT-12 V4.0 expression beadchip |
|
GSE197461
|
scRNA-seq |
16 |
Illumina NovaSeq 6000 (Homo sapiens) |
|
GSE55550
|
Expression array |
155 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Probe Name version) |
|
GSE165883
|
RNA-seq |
20 |
Illumina NextSeq 500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE183048 - ASPH peak across samples
|
Peak Plot
|
> Dataset: GSE143026 - ASPH peak across samples
|
Peak Plot
|
|
|
HPV Target gene Detail Information
