Details for: ASPH

Gene ID: 444

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: ASPH

Ensembl ID: ENSG00000198363

Description: aspartate beta-hydroxylase

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • adipocyte CL0000136
    CSI 71.67
    rCSI 92.03%
    PRS 16.81
  • pancreatic A cell CL0000171
    CSI 55.81
    rCSI 58.46%
    PRS 18.43
  • conjunctival epithelial cell CL1000432
    CSI 55.26
    rCSI 84.4%
    PRS 17.34
  • Mueller cell CL0000636
    CSI 51.88
    rCSI 100%
    PRS 14.83
  • retinal cone cell CL0000573
    CSI 46.36
    rCSI 74.61%
    PRS 13.26
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 44.54
    rCSI 74.77%
    PRS 10.16
  • astrocyte of the cerebral cortex CL0002605
    CSI 37.19
    rCSI 83.38%
    PRS 10.68
  • corneal epithelial cell CL0000575
    CSI 34.96
    rCSI 100%
    PRS 30.22
  • Bergmann glial cell CL0000644
    CSI 28.84
    rCSI 39.46%
    PRS 17.17
  • retinal ganglion cell CL0000740
    CSI 28.29
    rCSI 62.49%
    PRS 12.36
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 25.08
    rCSI 44.3%
    PRS 10.15
  • small intestine goblet cell CL1000495
    CSI 24.45
    rCSI 53.55%
    PRS 23.1
  • keratocyte CL0002363
    CSI 24.04
    rCSI 57.79%
    PRS 25.57
  • ependymal cell CL0000065
    CSI 23.37
    rCSI 47.42%
    PRS 8.3
  • epicardial adipocyte CL1000309
    CSI 22.9
    rCSI 74.52%
    PRS 20.89
  • cardiac muscle cell CL0000746
    CSI 22.43
    rCSI 32.19%
    PRS 13.37
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 21.36
    rCSI 51.92%
    PRS 9.97
  • VIP GABAergic cortical interneuron CL4023016
    CSI 20.56
    rCSI 24.55%
    PRS 9.95
  • GABAergic amacrine cell CL4030027
    CSI 19.92
    rCSI 68.22%
    PRS 14.85
  • pancreatic acinar cell CL0002064
    CSI 19.85
    rCSI 26.38%
    PRS 18.88
  • colon goblet cell CL0009039
    CSI 19.8
    rCSI 47.06%
    PRS 25.82
  • mucous neck cell CL0000651
    CSI 19.57
    rCSI 28.21%
    PRS 27.36
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 17.94
    rCSI 42.92%
    PRS 10.42
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 17.3
    rCSI 62.24%
    PRS 9.53
  • sncg GABAergic cortical interneuron CL4023015
    CSI 17.11
    rCSI 27.52%
    PRS 11.05
  • type L enteroendocrine cell CL0002279
    CSI 17.09
    rCSI 32.07%
    PRS 33.74
  • L6b glutamatergic cortical neuron CL4023038
    CSI 15.53
    rCSI 48.55%
    PRS 10.87
  • epithelial cell of lower respiratory tract CL0002632
    CSI 14.42
    rCSI 11.18%
    PRS 16.49
  • luminal epithelial cell of mammary gland CL0002326
    CSI 13.59
    rCSI 24.69%
    PRS 26.3
  • intestine goblet cell CL0019031
    CSI 13.57
    rCSI 12.05%
    PRS 17.31
  • Hofbauer cell CL3000001
    CSI 13.41
    rCSI 25.32%
    PRS 21.72
  • goblet cell CL0000160
    CSI 13.29
    rCSI 12.55%
    PRS 18.04
  • pulmonary alveolar type 2 cell CL0002063
    CSI 12.73
    rCSI 19.75%
    PRS 25.87
  • mucus secreting cell CL0000319
    CSI 12.48
    rCSI 19.83%
    PRS 22.22
  • retinal rod cell CL0000604
    CSI 12.1
    rCSI 21.32%
    PRS 16.95
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 11.58
    rCSI 43.77%
    PRS 10.44
  • IgA plasma cell CL0000987
    CSI 11.58
    rCSI 11.85%
    PRS 32.04
  • Kupffer cell CL0000091
    CSI 11.37
    rCSI 26.01%
    PRS 16.73
  • S cone cell CL0003050
    CSI 11.17
    rCSI 49.09%
    PRS 14.42
  • inflammatory macrophage CL0000863
    CSI 11.07
    rCSI 18.92%
    PRS 34.74
  • subcutaneous adipocyte CL0002521
    CSI 9.87
    rCSI 50.55%
    PRS 16.9
  • hematopoietic precursor cell CL0008001
    CSI 9.72
    rCSI 10%
    PRS 28.02
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 9.6
    rCSI 56.51%
    PRS 10.64
  • radial glial cell CL0000681
    CSI 9.39
    rCSI 13.05%
    PRS 17.74
  • lung interstitial macrophage CL4033043
    CSI 9.29
    rCSI 20.84%
    PRS 34.57
  • alveolar type 1 fibroblast cell CL4028004
    CSI 9.2
    rCSI 10.07%
    PRS 19.57
  • melanocyte CL0000148
    CSI 9.13
    rCSI 6.76%
    PRS 15.11
  • secretory cell CL0000151
    CSI 8.87
    rCSI 9.26%
    PRS 17.66
  • ciliated cell CL0000064
    CSI 8.86
    rCSI 14.35%
    PRS 17.5
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 8.85
    rCSI 27.69%
    PRS 11.68
  • cardiac endothelial cell CL0010008
    CSI 8.62
    rCSI 34.77%
    PRS 15.45
  • pancreatic ductal cell CL0002079
    CSI 8.48
    rCSI 16.49%
    PRS 17.65
  • nasal mucosa goblet cell CL0002480
    CSI 8.39
    rCSI 9.73%
    PRS 25.2
  • alternatively activated macrophage CL0000890
    CSI 8.35
    rCSI 10.5%
    PRS 26.53
  • duct epithelial cell CL0000068
    CSI 8.26
    rCSI 12.08%
    PRS 18.23
  • placental villous trophoblast CL2000060
    CSI 8.25
    rCSI 12.75%
    PRS 16.16
  • pancreatic stellate cell CL0002410
    CSI 7.99
    rCSI 46.52%
    PRS 25.77
  • retina horizontal cell CL0000745
    CSI 7.98
    rCSI 12.16%
    PRS 16.02
  • perivascular cell CL4033054
    CSI 7.69
    rCSI 10.51%
    PRS 19.57
  • vein endothelial cell CL0002543
    CSI 7.64
    rCSI 20.86%
    PRS 58.59
  • fibroblast of lung CL0002553
    CSI 7.54
    rCSI 7.02%
    PRS 17.27
  • skin fibroblast CL0002620
    CSI 7.53
    rCSI 6.49%
    PRS 27.22
  • mononuclear phagocyte CL0000113
    CSI 7.45
    rCSI 16.4%
    PRS 19.37
  • tracheal goblet cell CL1000329
    CSI 7.34
    rCSI 16.03%
    PRS 33.88
  • central nervous system neuron CL2000029
    CSI 7.18
    rCSI 52.79%
    PRS 9.65
  • BEST4+ enteroycte CL4030026
    CSI 7.12
    rCSI 8.85%
    PRS 18.27
  • brush cell of tracheobronchial tree CL0002075
    CSI 7.02
    rCSI 20.82%
    PRS 24.33
  • renal alpha-intercalated cell CL0005011
    CSI 6.99
    rCSI 9.34%
    PRS 22.7
  • club cell CL0000158
    CSI 6.98
    rCSI 10.23%
    PRS 19.95
  • CD14-positive monocyte CL0001054
    CSI 6.83
    rCSI 8.51%
    PRS 24.45
  • myofibroblast cell CL0000186
    CSI 6.61
    rCSI 9.15%
    PRS 24.55
  • glycinergic amacrine cell CL4030028
    CSI 6.46
    rCSI 16.82%
    PRS 16.96
  • amacrine cell CL0000561
    CSI 6.28
    rCSI 18.19%
    PRS 13.21
  • midzonal region hepatocyte CL0019028
    CSI 6.25
    rCSI 14.67%
    PRS 25.08
  • microcirculation associated smooth muscle cell CL0008035
    CSI 6.25
    rCSI 18.08%
    PRS 19.53
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 6.17
    rCSI 7.92%
    PRS 16.75
  • interneuron CL0000099
    CSI 6.13
    rCSI 12.3%
    PRS 12.78
  • pancreatic D cell CL0000173
    CSI 6.06
    rCSI 5.96%
    PRS 18.75
  • glial cell CL0000125
    CSI 6.02
    rCSI 22.94%
    PRS 16.94
  • oligodendrocyte precursor cell CL0002453
    CSI 6
    rCSI 13.21%
    PRS 12.68
  • respiratory suprabasal cell CL4033048
    CSI 5.99
    rCSI 7.68%
    PRS 19.91
  • retinal pigment epithelial cell CL0002586
    CSI 5.89
    rCSI 11.7%
    PRS 18.33
  • H1 horizontal cell CL0004217
    CSI 5.89
    rCSI 23.32%
    PRS 23.3
  • enteroendocrine cell CL0000164
    CSI 5.76
    rCSI 7.88%
    PRS 19.1
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 5.66
    rCSI 10.29%
    PRS 14.27
  • enteroendocrine cell of small intestine CL0009006
    CSI 5.65
    rCSI 12.43%
    PRS 26.27
  • paneth cell CL0000510
    CSI 5.56
    rCSI 8.2%
    PRS 26.99
  • H2 horizontal cell CL0004218
    CSI 5.55
    rCSI 27.61%
    PRS 18.35
  • cardiac neuron CL0010022
    CSI 5.5
    rCSI 17.6%
    PRS 13.14
  • periportal region hepatocyte CL0019026
    CSI 5.44
    rCSI 21.17%
    PRS 23.49
  • retinal bipolar neuron CL0000748
    CSI 5.37
    rCSI 10.06%
    PRS 12.39
  • intestinal epithelial cell CL0002563
    CSI 5.32
    rCSI 5.56%
    PRS 18.07
  • stem cell CL0000034
    CSI 5.27
    rCSI 5.08%
    PRS 12.32
  • hepatic stellate cell CL0000632
    CSI 5.21
    rCSI 19.52%
    PRS 14.6
  • eye photoreceptor cell CL0000287
    CSI 5.18
    rCSI 58.32%
    PRS 41.41
  • neuron CL0000540
    CSI 5.18
    rCSI 13.79%
    PRS 14.11
  • bronchial goblet cell CL1000312
    CSI 5.09
    rCSI 20.35%
    PRS 36.62
  • foveolar cell of stomach CL0002179
    CSI 5.06
    rCSI 10.77%
    PRS 27.48
  • rod bipolar cell CL0000751
    CSI 5.01
    rCSI 9%
    PRS 14.32
  • choroid plexus epithelial cell CL0000706
    CSI 4.99
    rCSI 8.17%
    PRS 13.27
  • contractile cell CL0000183
    CSI -4.8
    rCSI -14.1%
    PRS 15.3%
  • promonocyte CL0000559
    CSI -3.8
    rCSI -6.4%
    PRS 23.4%
  • megakaryocyte-erythroid progenitor cell CL0000050
    CSI -2.6
    rCSI -2.3%
    PRS 15.5%
  • renal interstitial pericyte CL1001318
    CSI -1.3
    rCSI -3.6%
    PRS 15.9%
  • ciliated epithelial cell CL0000067
    CSI -0.9
    rCSI -0.8%
    PRS 12.5%
  • luminal cell of prostate epithelium CL0002340
    CSI -0.4
    rCSI -2.1%
    PRS 30.7%
  • helper T cell CL0000912
    CSI 0.2
    rCSI 0.2%
    PRS 23.8%
  • ventricular cardiac muscle cell CL2000046
    CSI 0.3
    rCSI 1.0%
    PRS 59.8%
  • intrahepatic cholangiocyte CL0002538
    CSI 0.4
    rCSI 0.9%
    PRS 30.8%
  • endothelial cell of placenta CL0009092
    CSI 0.4
    rCSI 1.9%
    PRS 23.4%
  • diffuse bipolar 3a cell CL4033029
    CSI 0.4
    rCSI 2.7%
    PRS 17.5%
  • pluripotent stem cell CL0002248
    CSI 0.4
    rCSI 11.9%
    PRS 38.4%
  • type B pancreatic cell CL0000169
    CSI 0.4
    rCSI 0.9%
    PRS 16.0%
  • metallothionein-positive alveolar macrophage CL4033042
    CSI 0.4
    rCSI 4.7%
    PRS 59.6%
  • enterocyte of epithelium of small intestine CL1000334
    CSI 0.4
    rCSI 6.8%
    PRS 41.8%
  • mesangial cell CL0000650
    CSI 0.5
    rCSI 1.9%
    PRS 23.4%
  • parietal cell CL0000162
    CSI 0.5
    rCSI 4.6%
    PRS 68.7%
  • cone retinal bipolar cell CL0000752
    CSI 0.6
    rCSI 7.3%
    PRS 53.9%
  • diffuse bipolar 1 cell CL4033027
    CSI 0.6
    rCSI 4.4%
    PRS 16.4%
  • dopaminergic neuron CL0000700
    CSI 0.6
    rCSI 3.3%
    PRS 8.6%
  • bronchiolar smooth muscle cell CL4033017
    CSI 0.6
    rCSI 8.9%
    PRS 49.0%
  • myeloid dendritic cell CL0000782
    CSI 0.6
    rCSI 0.9%
    PRS 25.8%
  • transit amplifying cell CL0009010
    CSI 0.6
    rCSI 1.0%
    PRS 28.0%
  • osteoblast CL0000062
    CSI 0.6
    rCSI 15.5%
    PRS 80.1%
  • mesenchymal cell CL0008019
    CSI 0.7
    rCSI 1.7%
    PRS 17.5%
  • cardiac blood vessel endothelial cell CL0010006
    CSI 0.7
    rCSI 4.9%
    PRS 19.1%
  • erythroblast CL0000765
    CSI 0.7
    rCSI 1.8%
    PRS 27.9%
  • myeloid lineage restricted progenitor cell CL0000839
    CSI 0.7
    rCSI 3.7%
    PRS 33.6%
  • cerebellar neuron CL1001611
    CSI 0.8
    rCSI 6.6%
    PRS 10.1%
  • mammary gland epithelial cell CL0002327
    CSI 0.8
    rCSI 2.7%
    PRS 30.5%
  • airway submucosal gland duct basal cell CL4033024
    CSI 0.8
    rCSI 4.9%
    PRS 44.2%
  • tendon cell CL0000388
    CSI 0.8
    rCSI 2.1%
    PRS 43.9%
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 0.8
    rCSI 1.0%
    PRS 24.5%
  • endothelial cell of uterus CL0009095
    CSI 0.8
    rCSI 5.8%
    PRS 45.2%
  • lung ciliated cell CL1000271
    CSI 0.8
    rCSI 1.0%
    PRS 12.7%
  • lung pericyte CL0009089
    CSI 0.8
    rCSI 2.2%
    PRS 20.6%
  • neuroendocrine cell CL0000165
    CSI 0.8
    rCSI 3.2%
    PRS 34.3%
  • cholangiocyte CL1000488
    CSI 0.8
    rCSI 5.0%
    PRS 28.2%
  • CD14-positive, CD16-negative classical monocyte CL0002057
    CSI 0.9
    rCSI 5.2%
    PRS 38.1%
  • stromal cell CL0000499
    CSI 0.9
    rCSI 2.5%
    PRS 23.5%
  • serous secreting cell CL0000313
    CSI 0.9
    rCSI 4.6%
    PRS 59.6%
  • CD8-positive, alpha-beta memory T cell, CD45RO-positive CL0001203
    CSI 1.0
    rCSI 1.2%
    PRS 21.9%
  • OFFx cell CL4033036
    CSI 1.0
    rCSI 4.7%
    PRS 17.8%
  • GABAergic interneuron CL0011005
    CSI 1.0
    rCSI 15.7%
    PRS 12.8%
  • chondrocyte CL0000138
    CSI 1.0
    rCSI 1.6%
    PRS 14.6%
  • starburst amacrine cell CL0004232
    CSI 1.0
    rCSI 8.6%
    PRS 17.7%
  • alveolar macrophage CL0000583
    CSI 1.0
    rCSI 1.7%
    PRS 20.3%
  • mesenchymal stem cell CL0000134
    CSI 1.1
    rCSI 11.5%
    PRS 30.9%
  • prostate gland microvascular endothelial cell CL2000059
    CSI 1.1
    rCSI 25.3%
    PRS 52.8%
  • deuterosomal cell CL4033044
    CSI 1.1
    rCSI 3.7%
    PRS 27.9%
  • granulocyte monocyte progenitor cell CL0000557
    CSI 1.1
    rCSI 1.0%
    PRS 19.4%
  • renal principal cell CL0005009
    CSI 1.1
    rCSI 2.9%
    PRS 22.4%
  • alveolar adventitial fibroblast CL4028006
    CSI 1.1
    rCSI 1.8%
    PRS 17.3%
  • common myeloid progenitor CL0000049
    CSI 1.1
    rCSI 0.9%
    PRS 17.3%
  • epithelial cell of urethra CL1000296
    CSI 1.2
    rCSI 29.3%
    PRS 49.7%
  • kidney connecting tubule epithelial cell CL1000768
    CSI 1.2
    rCSI 3.0%
    PRS 13.1%
  • promyelocyte CL0000836
    CSI 1.2
    rCSI 1.7%
    PRS 24.2%
  • diffuse bipolar 6 cell CL4033032
    CSI 1.2
    rCSI 6.4%
    PRS 19.9%
  • colonocyte CL1000347
    CSI 1.2
    rCSI 1.8%
    PRS 23.5%
  • hematopoietic stem cell CL0000037
    CSI 1.2
    rCSI 0.8%
    PRS 20.8%
  • cerebellar granule cell CL0001031
    CSI 1.3
    rCSI 1.9%
    PRS 15.9%
  • basal cell of prostate epithelium CL0002341
    CSI 1.3
    rCSI 3.8%
    PRS 37.1%
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.3
    rCSI 3.0%
    PRS 17.8%
  • transit amplifying cell of small intestine CL0009012
    CSI 1.3
    rCSI 5.9%
    PRS 32.0%
  • glandular epithelial cell CL0000150
    CSI 1.3
    rCSI 3.5%
    PRS 33.4%
  • respiratory epithelial cell CL0002368
    CSI 1.4
    rCSI 8.4%
    PRS 52.6%
  • mesodermal cell CL0000222
    CSI 1.4
    rCSI 1.6%
    PRS 17.0%
  • common dendritic progenitor CL0001029
    CSI 1.4
    rCSI 1.7%
    PRS 22.3%
  • dendritic cell, human CL0001056
    CSI 1.4
    rCSI 2.2%
    PRS 20.5%
  • basal-myoepithelial cell of mammary gland CL0002324
    CSI 1.4
    rCSI 2.7%
    PRS 36.7%
  • muscle cell CL0000187
    CSI 1.4
    rCSI 2.9%
    PRS 38.2%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.5
    rCSI 2.6%
    PRS 22.7%
  • glutamatergic neuron CL0000679
    CSI 1.5
    rCSI 3.0%
    PRS 17.2%
  • GABAergic neuron CL0000617
    CSI 1.5
    rCSI 5.0%
    PRS 12.0%
  • enterocyte of epithelium of large intestine CL0002071
    CSI 1.5
    rCSI 7.8%
    PRS 29.9%
  • vein endothelial cell of respiratory system CL4033008
    CSI 1.5
    rCSI 10.4%
    PRS 33.3%
  • mesenchymal stem cell of adipose tissue CL0002570
    CSI 1.5
    rCSI 8.5%
    PRS 44.9%
  • centrilobular region hepatocyte CL0019029
    CSI 1.5
    rCSI 4.0%
    PRS 26.6%
  • podocyte CL0000653
    CSI 1.6
    rCSI 7.0%
    PRS 16.9%
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 1.6
    rCSI 3.9%
    PRS 27.4%
  • skeletal muscle satellite cell CL0000594
    CSI 1.6
    rCSI 4.7%
    PRS 50.6%
  • stromal cell of ovary CL0002132
    CSI 1.6
    rCSI 4.5%
    PRS 28.4%
  • squamous epithelial cell CL0000076
    CSI 1.7
    rCSI 4.0%
    PRS 21.3%
  • epithelial cell of lung CL0000082
    CSI 1.7
    rCSI 1.4%
    PRS 16.3%
  • intestinal crypt stem cell of colon CL0009043
    CSI 1.7
    rCSI 12.8%
    PRS 31.4%
  • elicited macrophage CL0000861
    CSI 1.7
    rCSI 1.6%
    PRS 20.1%
  • fibroblast of breast CL4006000
    CSI 1.8
    rCSI 7.4%
    PRS 42.4%
  • smooth muscle cell CL0000192
    CSI 1.8
    rCSI 4.3%
    PRS 45.9%
  • colon epithelial cell CL0011108
    CSI 1.8
    rCSI 1.9%
    PRS 16.1%
  • pulmonary ionocyte CL0017000
    CSI 1.8
    rCSI 2.2%
    PRS 21.7%
  • hepatocyte CL0000182
    CSI 1.9
    rCSI 3.4%
    PRS 16.0%
  • forebrain radial glial cell CL0013000
    CSI 1.9
    rCSI 6.1%
    PRS 25.0%
  • paneth cell of epithelium of small intestine CL1000343
    CSI 1.9
    rCSI 5.5%
    PRS 26.7%
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.0
    rCSI 2.8%
    PRS 16.0%
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 2.0
    rCSI 6.5%
    PRS 10.0%
  • midbrain dopaminergic neuron CL2000097
    CSI 2.0
    rCSI 12.7%
    PRS 25.7%
  • group 3 innate lymphoid cell CL0001071
    CSI 2.0
    rCSI 1.5%
    PRS 18.2%
  • serotonergic neuron CL0000850
    CSI 2.0
    rCSI 9.0%
    PRS 9.4%
  • medium spiny neuron CL1001474
    CSI 2.1
    rCSI 17.8%
    PRS 7.6%
  • diffuse bipolar 2 cell CL4033028
    CSI 2.1
    rCSI 16.2%
    PRS 17.9%

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

Comma-separated if multiple.
Comma-separated if multiple.

Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [ASPH](/details-gene/444), or aspartate beta-hydroxylase, is a protein-coding gene located on chromosome 8q12.3. It encodes a multifunctional enzyme primarily localized to the endoplasmic reticulum membrane. The protein's core function is peptidyl-aspartic acid hydroxylation, a form of post-translational modification, as described in the [Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation](https://reactome.org/content/detail/R-HSA-163841) pathway. However, it is also deeply involved in [Calcium ion homeostasis](https://www.ebi.ac.uk/QuickGO/term/GO:0055074) through its roles as a calcium-binding protein and a regulator of sarcoplasmic/endoplasmic reticulum calcium channels. **Overall**, expression data reveals its high significance in a diverse array of metabolically active and excitable cells, including [adipocytes](/details-cell/CL0000136), [pancreatic A cells](/details-cell/CL0000171), and various neuronal and glial cell types. Its association with conditions such as Traboulsi syndrome ([601552](https://omim.org/entry/601552)) and its documented overexpression in certain cancers ([Link](https://doi.org/10.1172/jci118918)) underscore its clinical relevance. ## Cellular Roles and Expression Landscape The expression profile of [ASPH](/details-gene/444) suggests a fundamental role in the function of highly specialized, terminally differentiated cells rather than in progenitor cell identity. **Overall**, its significance is highest in tissues with high metabolic or signaling demands. The top-ranked cell type is the [adipocyte](/details-cell/CL0000136) (CSI: 71.67), indicating a potentially critical role in lipid metabolism or endocrine function. This is followed by secretory cells like the [pancreatic A cell](/details-cell/CL0000171) (CSI: 55.81) and specialized epithelial cells such as the [conjunctival epithelial cell](/details-cell/CL1000432) (CSI: 55.26). A prominent theme is the gene's importance in the nervous system, particularly the retina, where it is a significant marker for [Mueller cells](/details-cell/CL0000636), [retinal cone cells](/details-cell/CL0000573), and [retinal ganglion cells](/details-cell/CL0000740). Its high significance in various cortical interneurons and glial cells, like [astrocytes of the cerebral cortex](/details-cell/CL0002605), further highlights a broad involvement in neural cell physiology. Conversely, the gene shows minimal or negative significance in hematopoietic progenitor cells, such as [promonocytes](/details-cell/CL0000559) and [megakaryocyte-erythroid progenitor cells](/details-cell/CL0000050). This pattern suggests that [ASPH](/details-gene/444) function is more critical for maintaining the specialized activities of mature cells, such as ion homeostasis and protein processing, rather than for lineage commitment or proliferation in the hematopoietic system. ## Pathways and Molecular Function The functional annotations for [ASPH](/details-gene/444) converge on two primary, interconnected roles: protein modification and calcium signaling regulation. Its enzymatic function is defined as [Peptidyl-aspartic acid 3-dioxygenase activity](https://www.ebi.ac.uk/QuickGO/term/GO:0062101), a key step in [Protein hydroxylation](https://reactome.org/content/detail/R-HSA-9629569). This activity is crucial for the proper folding and function of certain proteins, and its absence has been linked to developmental defects ([Link](https://doi.org/10.1074/jbc.m110389200)). Concurrently, [ASPH](/details-gene/444) (and its isoforms, such as junctin and junctate) is a structural component of the endoplasmic and sarcoplasmic reticulum, where it plays a pivotal role in managing intracellular calcium. This is supported by its involvement in numerous GO processes, including [Regulation of cytosolic calcium ion concentration](https://www.ebi.ac.uk/QuickGO/term/GO:0051480) and [Positive regulation of ryanodine-sensitive calcium-release channel activity](https://www.ebi.ac.uk/QuickGO/term/GO:0060316). Its annotation as a component of the [Calcium channel complex](https://www.ebi.ac.uk/QuickGO/term/GO:0034704) and its role in pathways like [Muscle contraction](https://reactome.org/content/detail/R-HSA-397014) are consistent with its function in modulating calcium release from internal stores. This dual function explains its importance in excitable cells (neurons, muscle) and secretory cells ([pancreatic A cell](/details-cell/CL0000171)), which depend on precise calcium dynamics for their core activities. ## Research Directions The widespread expression of [ASPH](/details-gene/444) in diverse but functionally critical cell types, combined with its dual roles in protein modification and calcium signaling, opens several avenues for future research. Its documented overexpression in hepatocellular carcinoma and cholangiocarcinoma ([Link](https://doi.org/10.1172/jci118918)) provides a strong basis for investigating its role in pathology. **Proposed Hypotheses:** 1. Given its roles in both [Cell population proliferation](https://www.ebi.ac.uk/QuickGO/term/GO:0008283) and calcium signaling, the enzymatic activity of [ASPH](/details-gene/444) may promote cancer cell survival and proliferation by hydroxylating key substrate proteins involved in growth factor signaling pathways, while its calcium-regulatory function may prevent apoptosis by buffering ER stress. 2. The exceptionally high significance of [ASPH](/details-gene/444) in [adipocytes](/details-cell/CL0000136) suggests it is a critical regulator of adipocyte-specific calcium homeostasis. Dysregulation of [ASPH](/details-gene/444) may alter insulin signaling or lipolysis, processes highly sensitive to intracellular calcium levels, thereby contributing to metabolic disorders. **Experimental Approach:** To test the first hypothesis regarding its role in hepatocellular carcinoma (HCC), a multi-pronged approach could be employed. First, CRISPR-Cas9 could be used to knock out [ASPH](/details-gene/444) in a panel of human HCC cell lines. The impact on cell proliferation would be assessed via colony formation assays, while migratory and invasive potential could be measured using transwell assays. To dissect its dual functions, rescue experiments could be performed using constructs expressing either the wild-type protein or a catalytically-dead mutant. This would distinguish the effects of its hydroxylase activity from its structural role in calcium regulation. Finally, changes in key signaling pathways (e.g., Notch, EGFR), whose components are known substrates, and cellular calcium dynamics upon stimulation could be measured via western blotting and live-cell imaging with calcium reporters, respectively. **Therapeutic Potential:** The overexpression of [ASPH](/details-gene/444) specifically in cancer cells compared to surrounding normal tissue makes it a compelling therapeutic target. As an enzyme, it is amenable to targeting with small molecule inhibitors. A therapeutic strategy focused on **inhibition** of its hydroxylase activity could selectively impair the function of downstream oncogenic proteins, thereby reducing tumor growth and metastasis. However, its widespread expression in critical cell types like neurons and adipocytes warrants careful consideration of potential on-target, off-tumor toxicities. Developing inhibitors that are preferentially taken up by or activated within tumor cells would be a key challenge for translating this concept into a viable therapy.

Genular Protein ID: 391388776

Symbol: ASPH_HUMAN

Name: Aspartyl/asparaginyl beta-hydroxylase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7821814

Title: Cloning and characterization of the human gene encoding aspartyl beta-hydroxylase.

PubMed ID: 7821814

DOI: 10.1016/0378-1119(94)90460-x

PubMed ID: 8823296

Title: Overexpression of human aspartyl(asparaginyl)beta-hydroxylase in hepatocellular carcinoma and cholangiocarcinoma.

PubMed ID: 8823296

DOI: 10.1172/jci118918

PubMed ID: 10974562

Title: cDNA cloning and characterization of human cardiac junctin.

PubMed ID: 10974562

DOI: 10.1016/s0378-1119(00)00299-7

PubMed ID: 10956665

Title: Aspartyl beta -hydroxylase (Asph) and an evolutionarily conserved isoform of Asph missing the catalytic domain share exons with junctin.

PubMed ID: 10956665

DOI: 10.1074/jbc.m006753200

PubMed ID: 11007777

Title: Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco(endo)plasmic reticulum membrane.

PubMed ID: 11007777

DOI: 10.1074/jbc.m005473200

PubMed ID: 10767180

Title: Molecular cloning of junctin from human and developing rabbit heart.

PubMed ID: 10767180

DOI: 10.1006/mgme.2000.2966

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22586105

Title: Junctate is a Ca2+-sensing structural component of Orai1 and stromal interaction molecule 1 (STIM1).

PubMed ID: 22586105

DOI: 10.1073/pnas.1200667109

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 15485681

Title: Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium.

PubMed ID: 15485681

DOI: 10.1016/j.cardiores.2004.09.009

PubMed ID: 11773073

Title: Absence of post-translational aspartyl beta-hydroxylation of epidermal growth factor domains in mice leads to developmental defects and an increased incidence of intestinal neoplasia.

PubMed ID: 11773073

DOI: 10.1074/jbc.m110389200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 24768550

Title: Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

PubMed ID: 24768550

DOI: 10.1016/j.ajhg.2014.04.002

Sequence Information:

  • Length: 758
  • Mass: 85863
  • Checksum: 4AE56D1D8DF0AF0C
  • Sequence:
  • MAQRKNAKSS GNSSSSGSGS GSTSAGSSSP GARRETKHGG HKNGRKGGLS GTSFFTWFMV 
    IALLGVWTSV AVVWFDLVDY EEVLGKLGIY DADGDGDFDV DDAKVLLGLK ERSTSEPAVP 
    PEEAEPHTEP EEQVPVEAEP QNIEDEAKEQ IQSLLHEMVH AEHVEGEDLQ QEDGPTGEPQ 
    QEDDEFLMAT DVDDRFETLE PEVSHEETEH SYHVEETVSQ DCNQDMEEMM SEQENPDSSE 
    PVVEDERLHH DTDDVTYQVY EEQAVYEPLE NEGIEITEVT APPEDNPVED SQVIVEEVSI 
    FPVEEQQEVP PETNRKTDDP EQKAKVKKKK PKLLNKFDKT IKAELDAAEK LRKRGKIEEA 
    VNAFKELVRK YPQSPRARYG KAQCEDDLAE KRRSNEVLRG AIETYQEVAS LPDVPADLLK 
    LSLKRRSDRQ QFLGHMRGSL LTLQRLVQLF PNDTSLKNDL GVGYLLIGDN DNAKKVYEEV 
    LSVTPNDGFA KVHYGFILKA QNKIAESIPY LKEGIESGDP GTDDGRFYFH LGDAMQRVGN 
    KEAYKWYELG HKRGHFASVW QRSLYNVNGL KAQPWWTPKE TGYTELVKSL ERNWKLIRDE 
    GLAVMDKAKG LFLPEDENLR EKGDWSQFTL WQQGRRNENA CKGAPKTCTL LEKFPETTGC 
    RRGQIKYSIM HPGTHVWPHT GPTNCRLRMH LGLVIPKEGC KIRCANETKT WEEGKVLIFD 
    DSFEHEVWQD ASSFRLIFIV DVWHPELTPQ QRRSLPAI

Genular Protein ID: 3000180067

Symbol: B7ZM96_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 279
  • Mass: 31518
  • Checksum: 966814F02AAE2186
  • Sequence:
  • MAEDKETKHG GHKNGRKGGL SGTSFFTWFM VIALLGVWTS VAVVWFDLVD YEEVLAKAKD 
    FRYNLSEVLQ GKLGIYDADG DGDFDVDDAK VLLGLKERST SEPAVPPEEA EPHTEPEEQV 
    PVEAEPQNIE DEAKEQIQSL LHEMVHAEHV EGEDLQQEDG PTGEPQQEDD EFLMATDVDD 
    RFETLEPEVS HEETEHSYHV EETDSSEPVV EDERLHHDTD DVTYQVYEEQ VYEPLENEGI 
    EITEVTAPPE DNPVEDSQVI VEEVSIFPVE EQQEVPPDT

Genular Protein ID: 3380169666

Symbol: B4DQ07_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 285
  • Mass: 31759
  • Checksum: 740E04134899A7B2
  • Sequence:
  • MAQRKNAKSS GNSSSSSSSS PGARRETKHG GHENGRKGGL SGTSFFTWFM VIALLGVWTS 
    VAVVWFDLVD YEEVLGKLGI YDADGDGDFD VDDAKVLLGL KERSTSEPAV PPEEAEPHTE 
    PEEQVPVEAE PQNIEDEAKE QIQSLLHEMV HAEHVEGEDL QQEDGPTGEP QQEDDEFLMA 
    TDVDDRFETL EPEVSHEETE HSYHVEETDS SEPVVEDERL HHDTDDVTYQ VYEEQAVYEP 
    LENEGIEITE VTAPPEDNPV EDSQVIVEEV SIFPVEEQQE VPPDT