Details for: CHM

Gene ID: 1121

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: CHM

Ensembl ID: ENSG00000188419

Description: CHM Rab escort protein

Cell Significance Landscape

Associated with

Significant Cells

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

  • sncg GABAergic cortical interneuron CL4023015
    CSI 18.42
    rCSI 29.63%
    PRS 40.89
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 16.56
    rCSI 40.24%
    PRS 37.45
  • L6b glutamatergic cortical neuron CL4023038
    CSI 14.32
    rCSI 44.76%
    PRS 40.19
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 13.44
    rCSI 48.37%
    PRS 37.32
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 12.58
    rCSI 21.11%
    PRS 38.72
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 10.64
    rCSI 40.21%
    PRS 39.55
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 9.69
    rCSI 17.11%
    PRS 37.76
  • retinal ganglion cell CL0000740
    CSI 9.14
    rCSI 20.19%
    PRS 43.03
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 8.79
    rCSI 51.75%
    PRS 40.11
  • stem cell CL0000034
    CSI 6.98
    rCSI 6.73%
    PRS 46.84
  • VIP GABAergic cortical interneuron CL4023016
    CSI 6.39
    rCSI 7.64%
    PRS 38.56
  • retinal rod cell CL0000604
    CSI 5.82
    rCSI 10.25%
    PRS 53.6
  • myeloid leukocyte CL0000766
    CSI 4.97
    rCSI 4.59%
    PRS 57.4
  • endothelial cell of pericentral hepatic sinusoid CL0019022
    CSI 4.76
    rCSI 14.66%
    PRS 66.15
  • central memory CD4-positive, alpha-beta T cell CL0000904
    CSI 4.49
    rCSI 2.65%
    PRS 73.35
  • group 3 innate lymphoid cell CL0001071
    CSI 4.4
    rCSI 3.31%
    PRS 61.28
  • Schwann cell CL0002573
    CSI 4.03
    rCSI 11.46%
    PRS 54.54
  • fallopian tube secretory epithelial cell CL4030006
    CSI 3.84
    rCSI 3.69%
    PRS 56.57
  • perivascular cell CL4033054
    CSI 3.66
    rCSI 5.01%
    PRS 61.93
  • hematopoietic multipotent progenitor cell CL0000837
    CSI 3.48
    rCSI 8.37%
    PRS 74.55
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 3.41
    rCSI 10.67%
    PRS 42.67
  • melanocyte CL0000148
    CSI 3.37
    rCSI 2.5%
    PRS 49.01
  • myoepithelial cell CL0000185
    CSI 3.33
    rCSI 8.44%
    PRS 64.82
  • cardiac endothelial cell CL0010008
    CSI 3.32
    rCSI 13.41%
    PRS 54.86
  • mesodermal cell CL0000222
    CSI 3.32
    rCSI 3.99%
    PRS 54.46
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 3.22
    rCSI 4.01%
    PRS 36.91
  • cerebellar granule cell CL0001031
    CSI 3.13
    rCSI 4.6%
    PRS 50.37
  • Mueller cell CL0000636
    CSI 3.11
    rCSI 7.1%
    PRS 48.42
  • GABAergic amacrine cell CL4030027
    CSI 3.1
    rCSI 10.63%
    PRS 45.69
  • cerebral cortex endothelial cell CL1001602
    CSI 3.06
    rCSI 5.29%
    PRS 46.49
  • neuroblast (sensu Nematoda and Protostomia) CL0000338
    CSI 3.05
    rCSI 3.52%
    PRS 49.84
  • effector memory CD8-positive, alpha-beta T cell CL0000913
    CSI 2.98
    rCSI 2.71%
    PRS 70.81
  • ON-bipolar cell CL0000749
    CSI 2.96
    rCSI 4.4%
    PRS 58.27
  • double-positive, alpha-beta thymocyte CL0000809
    CSI 2.94
    rCSI 3%
    PRS 69.85
  • renal alpha-intercalated cell CL0005011
    CSI 2.83
    rCSI 3.79%
    PRS 65.38
  • mononuclear phagocyte CL0000113
    CSI 2.81
    rCSI 6.18%
    PRS 60.29
  • radial glial cell CL0000681
    CSI 2.79
    rCSI 3.88%
    PRS 55.31
  • lung ciliated cell CL1000271
    CSI 2.76
    rCSI 3.19%
    PRS 46.33
  • ON parasol ganglion cell CL4033052
    CSI 2.76
    rCSI 39.15%
    PRS 47.93
  • sst GABAergic cortical interneuron CL4023017
    CSI 2.75
    rCSI 3.54%
    PRS 39.85
  • ON midget ganglion cell CL4033046
    CSI 2.7
    rCSI 55%
    PRS 47.47
  • direct pathway medium spiny neuron CL4023026
    CSI 2.67
    rCSI 64.03%
    PRS 37.99
  • pancreatic D cell CL0000173
    CSI 2.65
    rCSI 2.61%
    PRS 58.86
  • pulmonary capillary endothelial cell CL4028001
    CSI 2.64
    rCSI 5.03%
    PRS 71.91
  • indirect pathway medium spiny neuron CL4023029
    CSI 2.62
    rCSI 63.21%
    PRS 38.89
  • pancreatic A cell CL0000171
    CSI 2.61
    rCSI 2.74%
    PRS 59.78
  • OFF midget ganglion cell CL4033047
    CSI 2.57
    rCSI 52.39%
    PRS 48.76
  • Kupffer cell CL0000091
    CSI 2.51
    rCSI 5.74%
    PRS 55.92
  • mature B cell CL0000785
    CSI 2.44
    rCSI 2.12%
    PRS 66.9
  • inhibitory interneuron CL0000498
    CSI 2.39
    rCSI 5.53%
    PRS 46.04
  • glioblast CL0000030
    CSI 2.36
    rCSI 3.76%
    PRS 49.26
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.29
    rCSI 5.14%
    PRS 39.49
  • CD14-low, CD16-positive monocyte CL0002396
    CSI 2.27
    rCSI 1.75%
    PRS 56.18
  • enteric smooth muscle cell CL0002504
    CSI 2.27
    rCSI 3.24%
    PRS 58.8
  • bronchus fibroblast of lung CL2000093
    CSI 2.26
    rCSI 1.83%
    PRS 56.79
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.24
    rCSI 2.45%
    PRS 60.16
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.23
    rCSI 3.16%
    PRS 52.67
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.19
    rCSI 5.56%
    PRS 46.03
  • fibroblast of cardiac tissue CL0002548
    CSI 2.19
    rCSI 10.48%
    PRS 55.92
  • lung pericyte CL0009089
    CSI 2.19
    rCSI 5.77%
    PRS 65.06
  • neuron CL0000540
    CSI 2.18
    rCSI 5.81%
    PRS 46.18
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.16
    rCSI 1.51%
    PRS 59.08
  • epithelial cell of lung CL0000082
    CSI 2.12
    rCSI 1.75%
    PRS 55.27
  • blood vessel endothelial cell CL0000071
    CSI 2.11
    rCSI 4.39%
    PRS 53.63
  • interneuron CL0000099
    CSI 2.08
    rCSI 4.18%
    PRS 45.6
  • lung interstitial macrophage CL4033043
    CSI 2.07
    rCSI 4.65%
    PRS 74.45
  • hepatic stellate cell CL0000632
    CSI 2.01
    rCSI 7.53%
    PRS 48.53
  • adipocyte CL0000136
    CSI 2
    rCSI 2.57%
    PRS 49.65
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 1.99
    rCSI 2.56%
    PRS 53.82
  • choroid plexus epithelial cell CL0000706
    CSI 1.98
    rCSI 3.24%
    PRS 46.03
  • cerebral cortex neuron CL0010012
    CSI 1.97
    rCSI 8.02%
    PRS 51.44
  • epithelial cell of lower respiratory tract CL0002632
    CSI 1.95
    rCSI 1.51%
    PRS 57.72
  • pro-B cell CL0000826
    CSI 1.94
    rCSI 1.61%
    PRS 58.14
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 1.93
    rCSI 1.3%
    PRS 69.01
  • fibroblast of lung CL0002553
    CSI 1.92
    rCSI 1.78%
    PRS 56.27
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 1.89
    rCSI 4.93%
    PRS 55.7
  • amacrine cell CL0000561
    CSI 1.88
    rCSI 5.44%
    PRS 46.41
  • mucus secreting cell CL0000319
    CSI 1.86
    rCSI 2.95%
    PRS 67.48
  • common dendritic progenitor CL0001029
    CSI 1.82
    rCSI 2.28%
    PRS 66.66
  • vascular leptomeningeal cell CL4023051
    CSI 1.82
    rCSI 3.18%
    PRS 48.45
  • hepatocyte CL0000182
    CSI 1.81
    rCSI 3.24%
    PRS 55.29
  • interstitial cell of Cajal CL0002088
    CSI 1.8
    rCSI 2.29%
    PRS 62.66
  • retinal pigment epithelial cell CL0002586
    CSI 1.71
    rCSI 3.4%
    PRS 54.31
  • mature T cell CL0002419
    CSI 1.71
    rCSI 1.33%
    PRS 74.3
  • glial cell CL0000125
    CSI 1.7
    rCSI 6.47%
    PRS 47.76
  • rod bipolar cell CL0000751
    CSI 1.66
    rCSI 2.98%
    PRS 49.39
  • lung secretory cell CL1000272
    CSI 1.65
    rCSI 4.09%
    PRS 54.57
  • ependymal cell CL0000065
    CSI 1.62
    rCSI 3.29%
    PRS 36.47
  • neural crest cell CL0011012
    CSI 1.61
    rCSI 1.27%
    PRS 43.35
  • enteroendocrine cell CL0000164
    CSI 1.6
    rCSI 2.19%
    PRS 58.43
  • renal beta-intercalated cell CL0002201
    CSI 1.6
    rCSI 3.8%
    PRS 57.52
  • basal cell CL0000646
    CSI 1.59
    rCSI 2.13%
    PRS 56.96
  • lymphoid lineage restricted progenitor cell CL0000838
    CSI 1.59
    rCSI 6.18%
    PRS 76.7
  • dopaminergic neuron CL0000700
    CSI 1.53
    rCSI 8.65%
    PRS 41.7
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.52
    rCSI 3.93%
    PRS 51.5
  • cardiac neuron CL0010022
    CSI 1.48
    rCSI 4.74%
    PRS 53.55
  • keratinocyte CL0000312
    CSI 1.48
    rCSI 1.24%
    PRS 61.15
  • chondrocyte CL0000138
    CSI 1.47
    rCSI 2.34%
    PRS 48.75
  • duct epithelial cell CL0000068
    CSI 1.46
    rCSI 2.14%
    PRS 60.33
  • adventitial cell CL0002503
    CSI 1.46
    rCSI 3.49%
    PRS 65.27
  • H2 horizontal cell CL0004218
    CSI 0.3
    rCSI 1.5%
    PRS 54.6%
  • regular ventricular cardiac myocyte CL0002131
    CSI 0.4
    rCSI 2.7%
    PRS 48.2%
  • diffuse bipolar 3a cell CL4033029
    CSI 0.4
    rCSI 2.9%
    PRS 52.6%
  • diffuse bipolar 3b cell CL4033030
    CSI 0.5
    rCSI 3.4%
    PRS 53.4%
  • invaginating midget bipolar cell CL4033034
    CSI 0.6
    rCSI 3.5%
    PRS 51.8%
  • Hofbauer cell CL3000001
    CSI 0.6
    rCSI 1.1%
    PRS 66.8%
  • diffuse bipolar 2 cell CL4033028
    CSI 0.6
    rCSI 4.7%
    PRS 53.0%
  • alveolar adventitial fibroblast CL4028006
    CSI 0.6
    rCSI 1.0%
    PRS 58.1%
  • enteroendocrine cell of colon CL0009042
    CSI 0.6
    rCSI 3.0%
    PRS 76.4%
  • paneth cell CL0000510
    CSI 0.7
    rCSI 1.1%
    PRS 72.8%
  • mesangial cell CL0000650
    CSI 0.7
    rCSI 3.0%
    PRS 67.4%
  • podocyte CL0000653
    CSI 0.8
    rCSI 3.4%
    PRS 55.5%
  • retina horizontal cell CL0000745
    CSI 0.8
    rCSI 1.2%
    PRS 52.7%
  • S cone cell CL0003050
    CSI 0.8
    rCSI 3.4%
    PRS 53.1%
  • intestinal tuft cell CL0019032
    CSI 0.8
    rCSI 1.2%
    PRS 60.8%
  • renal interstitial pericyte CL1001318
    CSI 0.8
    rCSI 2.2%
    PRS 52.1%
  • retinal cone cell CL0000573
    CSI 0.8
    rCSI 1.3%
    PRS 46.3%
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 0.8
    rCSI 2.1%
    PRS 64.2%
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 0.8
    rCSI 1.0%
    PRS 64.8%
  • pancreatic PP cell CL0002275
    CSI 0.8
    rCSI 3.2%
    PRS 70.2%
  • glutamatergic neuron CL0000679
    CSI 0.8
    rCSI 1.7%
    PRS 47.6%
  • conjunctival epithelial cell CL1000432
    CSI 0.9
    rCSI 1.3%
    PRS 56.9%
  • neural progenitor cell CL0011020
    CSI 0.9
    rCSI 3.9%
    PRS 47.8%
  • blood vessel smooth muscle cell CL0019018
    CSI 0.9
    rCSI 7.4%
    PRS 49.4%
  • microcirculation associated smooth muscle cell CL0008035
    CSI 0.9
    rCSI 2.7%
    PRS 58.0%
  • type B pancreatic cell CL0000169
    CSI 1.0
    rCSI 2.1%
    PRS 54.3%
  • tracheobronchial smooth muscle cell CL0019019
    CSI 1.0
    rCSI 1.7%
    PRS 64.7%
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 1.0
    rCSI 2.3%
    PRS 44.1%
  • L2/3 intratelencephalic projecting glutamatergic neuron CL4030059
    CSI 1.0
    rCSI 2.2%
    PRS 44.8%
  • regular atrial cardiac myocyte CL0002129
    CSI 1.0
    rCSI 3.2%
    PRS 54.8%
  • GABAergic interneuron CL0011005
    CSI 1.0
    rCSI 16.0%
    PRS 60.7%
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.0
    rCSI 3.4%
    PRS 43.7%
  • elicited macrophage CL0000861
    CSI 1.1
    rCSI 1.0%
    PRS 64.8%
  • renal principal cell CL0005009
    CSI 1.1
    rCSI 2.8%
    PRS 60.3%
  • pancreatic epsilon cell CL0005019
    CSI 1.1
    rCSI 5.2%
    PRS 74.9%
  • tuft cell of colon CL0009041
    CSI 1.1
    rCSI 2.6%
    PRS 70.1%
  • glycinergic amacrine cell CL4030028
    CSI 1.1
    rCSI 2.9%
    PRS 54.3%
  • intermediate monocyte CL0002393
    CSI 1.1
    rCSI 1.7%
    PRS 59.7%
  • keratocyte CL0002363
    CSI 1.2
    rCSI 2.8%
    PRS 64.3%
  • Bergmann glial cell CL0000644
    CSI 1.2
    rCSI 1.6%
    PRS 50.6%
  • medium spiny neuron CL1001474
    CSI 1.3
    rCSI 10.8%
    PRS 43.6%
  • cardiac muscle cell CL0000746
    CSI 1.3
    rCSI 1.8%
    PRS 46.4%
  • parietal epithelial cell CL1000452
    CSI 1.3
    rCSI 3.3%
    PRS 47.8%
  • endothelial cell of placenta CL0009092
    CSI 1.3
    rCSI 6.2%
    PRS 67.7%
  • retinal bipolar neuron CL0000748
    CSI 1.3
    rCSI 2.4%
    PRS 45.0%
  • GABAergic neuron CL0000617
    CSI 1.3
    rCSI 4.3%
    PRS 42.2%
  • extravillous trophoblast CL0008036
    CSI 1.3
    rCSI 1.6%
    PRS 52.4%
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 1.3
    rCSI 2.4%
    PRS 48.6%
  • neuroendocrine cell CL0000165
    CSI 1.4
    rCSI 5.2%
    PRS 71.9%
  • retinal blood vessel endothelial cell CL0002585
    CSI 1.4
    rCSI 2.2%
    PRS 60.3%
  • lung neuroendocrine cell CL1000223
    CSI 1.4
    rCSI 2.0%
    PRS 61.7%
  • lung macrophage CL1001603
    CSI 1.4
    rCSI 3.2%
    PRS 63.8%
  • ciliated epithelial cell CL0000067
    CSI 1.5
    rCSI 1.3%
    PRS 44.5%
  • adventitial cell CL0002503
    CSI 1.5
    rCSI 3.5%
    PRS 65.3%
  • duct epithelial cell CL0000068
    CSI 1.5
    rCSI 2.1%
    PRS 60.3%
  • chondrocyte CL0000138
    CSI 1.5
    rCSI 2.3%
    PRS 48.8%
  • keratinocyte CL0000312
    CSI 1.5
    rCSI 1.2%
    PRS 61.2%
  • cardiac neuron CL0010022
    CSI 1.5
    rCSI 4.7%
    PRS 53.6%
  • kidney loop of Henle thin ascending limb epithelial cell CL1001107
    CSI 1.5
    rCSI 3.9%
    PRS 51.5%
  • dopaminergic neuron CL0000700
    CSI 1.5
    rCSI 8.7%
    PRS 41.7%
  • lymphoid lineage restricted progenitor cell CL0000838
    CSI 1.6
    rCSI 6.2%
    PRS 76.7%
  • basal cell CL0000646
    CSI 1.6
    rCSI 2.1%
    PRS 57.0%
  • renal beta-intercalated cell CL0002201
    CSI 1.6
    rCSI 3.8%
    PRS 57.5%
  • enteroendocrine cell CL0000164
    CSI 1.6
    rCSI 2.2%
    PRS 58.4%
  • neural crest cell CL0011012
    CSI 1.6
    rCSI 1.3%
    PRS 43.4%
  • ependymal cell CL0000065
    CSI 1.6
    rCSI 3.3%
    PRS 36.5%
  • lung secretory cell CL1000272
    CSI 1.7
    rCSI 4.1%
    PRS 54.6%
  • rod bipolar cell CL0000751
    CSI 1.7
    rCSI 3.0%
    PRS 49.4%
  • glial cell CL0000125
    CSI 1.7
    rCSI 6.5%
    PRS 47.8%
  • mature T cell CL0002419
    CSI 1.7
    rCSI 1.3%
    PRS 74.3%
  • retinal pigment epithelial cell CL0002586
    CSI 1.7
    rCSI 3.4%
    PRS 54.3%
  • interstitial cell of Cajal CL0002088
    CSI 1.8
    rCSI 2.3%
    PRS 62.7%
  • hepatocyte CL0000182
    CSI 1.8
    rCSI 3.2%
    PRS 55.3%
  • vascular leptomeningeal cell CL4023051
    CSI 1.8
    rCSI 3.2%
    PRS 48.5%
  • common dendritic progenitor CL0001029
    CSI 1.8
    rCSI 2.3%
    PRS 66.7%
  • mucus secreting cell CL0000319
    CSI 1.9
    rCSI 3.0%
    PRS 67.5%
  • amacrine cell CL0000561
    CSI 1.9
    rCSI 5.4%
    PRS 46.4%
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 1.9
    rCSI 4.9%
    PRS 55.7%
  • fibroblast of lung CL0002553
    CSI 1.9
    rCSI 1.8%
    PRS 56.3%
  • central memory CD8-positive, alpha-beta T cell CL0000907
    CSI 1.9
    rCSI 1.3%
    PRS 69.0%
  • pro-B cell CL0000826
    CSI 1.9
    rCSI 1.6%
    PRS 58.1%
  • epithelial cell of lower respiratory tract CL0002632
    CSI 2.0
    rCSI 1.5%
    PRS 57.7%
  • cerebral cortex neuron CL0010012
    CSI 2.0
    rCSI 8.0%
    PRS 51.4%
  • choroid plexus epithelial cell CL0000706
    CSI 2.0
    rCSI 3.2%
    PRS 46.0%
  • neuroblast (sensu Vertebrata) CL0000031
    CSI 2.0
    rCSI 2.6%
    PRS 53.8%
  • adipocyte CL0000136
    CSI 2.0
    rCSI 2.6%
    PRS 49.7%
  • hepatic stellate cell CL0000632
    CSI 2.0
    rCSI 7.5%
    PRS 48.5%
  • lung interstitial macrophage CL4033043
    CSI 2.1
    rCSI 4.7%
    PRS 74.5%
  • interneuron CL0000099
    CSI 2.1
    rCSI 4.2%
    PRS 45.6%
  • blood vessel endothelial cell CL0000071
    CSI 2.1
    rCSI 4.4%
    PRS 53.6%
  • epithelial cell of lung CL0000082
    CSI 2.1
    rCSI 1.8%
    PRS 55.3%
  • plasmacytoid dendritic cell, human CL0001058
    CSI 2.2
    rCSI 1.5%
    PRS 59.1%
  • neuron CL0000540
    CSI 2.2
    rCSI 5.8%
    PRS 46.2%
  • lung pericyte CL0009089
    CSI 2.2
    rCSI 5.8%
    PRS 65.1%
  • fibroblast of cardiac tissue CL0002548
    CSI 2.2
    rCSI 10.5%
    PRS 55.9%
  • kidney connecting tubule epithelial cell CL1000768
    CSI 2.2
    rCSI 5.6%
    PRS 46.0%
  • kidney loop of Henle thin descending limb epithelial cell CL1001111
    CSI 2.2
    rCSI 3.2%
    PRS 52.7%
  • alveolar type 1 fibroblast cell CL4028004
    CSI 2.2
    rCSI 2.5%
    PRS 60.2%
  • bronchus fibroblast of lung CL2000093
    CSI 2.3
    rCSI 1.8%
    PRS 56.8%
  • enteric smooth muscle cell CL0002504
    CSI 2.3
    rCSI 3.2%
    PRS 58.8%

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 [CHM](/details-gene/1121), which encodes Rab escort protein 1 (REP1), is a critical component of the intracellular protein trafficking machinery. Its primary function is to present newly synthesized Rab GTPases to Rab geranylgeranyltransferase for prenylation, a lipid modification essential for their attachment to membranes and subsequent role in vesicle-mediated transport [Link](https://doi.org/10.1002/j.1460-2075.1994.tb06860.x). The expression profile of [CHM](/details-gene/1121) is most significant in a wide range of neuronal cells, including cortical interneurons and glutamatergic neurons, as well as retinal cells. This specific expression pattern is consistent with its clinical relevance, as loss-of-function mutations in [CHM](/details-gene/1121) cause choroideremia ([303100](https://omim.org/entry/303100)), a progressive X-linked degenerative disease of the choroid and retina leading to blindness [Link](https://doi.org/10.1038/347674a0). ## Cellular Roles and Expression Landscape **Overall**, the expression of [CHM](/details-gene/1121) is predominantly associated with the central nervous system and the retina, highlighting its fundamental role in the maintenance and function of these highly active tissues. The gene shows the highest significance in various neuronal subtypes, indicating it is a crucial workhorse for neuronal function. The top cell types where [CHM](/details-gene/1121) is a key marker include: * **Cortical Interneurons:** Such as `sncg GABAergic cortical interneuron` ([CL4023015](/details-cell/CL4023015)) (CSI: 18.42) and `lamp5 GABAergic cortical interneuron` ([CL4023011](/details-cell/CL4023011)) (CSI: 12.58). * **Glutamatergic Neurons:** Including `L2/3-6 intratelencephalic projecting glutamatergic neuron` ([CL4023040](/details-cell/CL4023040)) (CSI: 16.56) and `L6b glutamatergic cortical neuron` ([CL4023038](/details-cell/CL4023038)) (CSI: 14.32). * **Retinal Cells:** Specifically `retinal ganglion cell` ([CL0000740](/details-cell/CL0000740)) (CSI: 9.14) and `retinal rod cell` ([CL0000604](/details-cell/CL0000604)) (CSI: 5.82). The high significance of [CHM](/details-gene/1121) across these diverse neuronal populations suggests that its function in facilitating Rab-mediated vesicular transport is indispensable for processes common to most neurons, such as neurotransmitter release, receptor trafficking, and axonal transport. While its role in retinal cells is well-established due to its association with choroideremia, its prominent expression in cortical neurons suggests a potentially broader, yet-to-be-fully-characterized role in cognitive and motor functions. The gene also shows moderate significance in non-neuronal cell types like `myeloid leukocyte` ([CL0000766](/details-cell/CL0000766)) and `central memory CD4-positive, alpha-beta T cell` ([CL0000904](/details-cell/CL0000904)), which is consistent with the ubiquitous nature of vesicular transport in all eukaryotic cells, albeit at lower levels compared to the nervous system. ## Pathways and Molecular Function The molecular functions and biological pathways associated with [CHM](/details-gene/1121) are centered on post-translational protein modification and intracellular trafficking. Its protein product, REP1, exhibits `Rab geranylgeranyltransferase activity` ([GO:0004663](https://www.ebi.ac.uk/QuickGO/term/GO:0004663)) as part of a larger complex and binds to small GTPases ([GO:0031267](https://www.ebi.ac.uk/QuickGO/term/GO:0031267)), specifically unprenylated Rab proteins. This activity is a key step in the `Rab geranylgeranylation` pathway ([R-HSA-8873719](https://reactome.org/content/detail/R-HSA-8873719)). This core function enables several critical downstream processes: * **Vesicle-Mediated Transport:** By ensuring Rab proteins are properly localized to membranes, [CHM](/details-gene/1121) is integral to `Vesicle-mediated transport` ([GO:0016192](https://www.ebi.ac.uk/QuickGO/term/GO:0016192)) and the broader `Membrane trafficking` pathway ([R-HSA-199991](https://reactome.org/content/detail/R-HSA-199991)). This process is vital for the high metabolic and secretory activity of neurons and photoreceptor cells. * **Signal Transduction:** The gene plays a role in `Small gtpase-mediated signal transduction` ([GO:0007264](https://www.ebi.ac.uk/QuickGO/term/GO:0007264)), as Rab proteins are master regulators of intracellular signaling cascades originating from various cellular compartments. * **Visual Perception:** Its involvement in the biological process of `Visual perception` ([GO:0007601](https://www.ebi.ac.uk/QuickGO/term/GO:0007601)) directly explains the severe phenotype observed in choroideremia, where deficits in membrane trafficking within retinal pigment epithelium and photoreceptor cells lead to cell death. * **Transcriptional Regulation:** Interestingly, [CHM](/details-gene/1121) is also linked to pathways of transcriptional regulation by TP53, such as `Tp53 regulates transcription of cell death genes` ([R-HSA-5633008](https://reactome.org/content/detail/R-HSA-5633008)), suggesting a potential link between cellular stress responses and the regulation of vesicular transport machinery. ## Research Directions The well-defined role of [CHM](/details-gene/1121) in choroideremia provides a strong foundation for further research, particularly concerning its function outside the retina and its potential interactions with other cellular pathways. Based on the available data, several testable hypotheses can be proposed: 1. The high significance of [CHM](/details-gene/1121) in specific cortical neuron subtypes, such as `[sncg GABAergic cortical interneuron](/details-cell/CL4023015)` and `[L2/3-6 intratelencephalic projecting glutamatergic neuron](/details-cell/CL4023040)`, suggests that these cells may be exceptionally vulnerable to subtle reductions in REP1 function. We hypothesize that carriers of [CHM](/details-gene/1121) mutations or individuals with sub-optimal [CHM](/details-gene/1121) expression may exhibit measurable, non-visual neurological deficits due to impaired vesicular transport in these specific cortical circuits. 2. The annotation of [CHM](/details-gene/1121) within TP53-regulated transcriptional pathways suggests a potential role in cellular stress responses. We hypothesize that in retinal cells undergoing metabolic or oxidative stress, TP53 activation coordinates a transcriptional response that may involve modulating [CHM](/details-gene/1121) levels to adjust trafficking capacity. The failure of this adaptive response in choroideremia patients could accelerate disease progression. To test the first hypothesis regarding the vulnerability of specific cortical neurons, a compelling experimental approach would be to use patient-derived induced pluripotent stem cells (iPSCs) from choroideremia patients and healthy controls. These iPSCs could be differentiated into cortical organoids or specific neuronal subtypes identified in the expression analysis. Subsequently, one could perform single-cell RNA-sequencing to assess transcriptomic dysregulation and use live-cell imaging with fluorescently-tagged synaptic vesicle proteins to directly measure deficits in axonal transport and synaptic turnover in `[CHM](/details-gene/1121)`-deficient neurons compared to isogenic controls. Given that choroideremia is a monogenic, loss-of-function disease, [CHM](/details-gene/1121) itself is not a target for inhibition. Instead, it represents a prime candidate for gene replacement therapy. The therapeutic potential lies in delivering a functional copy of the [CHM](/details-gene/1121) gene to affected retinal cells, primarily using adeno-associated virus (AAV) vectors. This approach has already shown promise in clinical trials and remains the most viable strategy for treating the disease. Small molecule inhibitors or activators would be inappropriate, as the essential and ubiquitous role of REP1 in all cells means that systemic modulation would likely have severe off-target effects.

Genular Protein ID: 3113907263

Symbol: RAE1_HUMAN

Name: Rab proteins geranylgeranyltransferase component A 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7981670

Title: Cloning and characterization of the human choroideremia gene.

PubMed ID: 7981670

DOI: 10.1093/hmg/3.7.1041

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 1549574

Title: Isolation of a candidate gene for choroideremia.

PubMed ID: 1549574

DOI: 10.1073/pnas.89.6.2135

PubMed ID: 2215697

Title: Cloning of a gene that is rearranged in patients with choroideraemia.

PubMed ID: 2215697

DOI: 10.1038/347674a0

PubMed ID: 1598901

Title: Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

PubMed ID: 1598901

PubMed ID: 1904992

Title: Analysis of choroideraemia gene.

PubMed ID: 1904992

DOI: 10.1038/351614b0

PubMed ID: 7957092

Title: Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.

PubMed ID: 7957092

DOI: 10.1002/j.1460-2075.1994.tb06860.x

PubMed ID: 18532927

Title: Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate.

PubMed ID: 18532927

DOI: 10.1042/bj20080662

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21905166

Title: Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase.

PubMed ID: 21905166

DOI: 10.1002/humu.21591

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: 26824392

Title: Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.

PubMed ID: 26824392

DOI: 10.7554/elife.12813

PubMed ID: 29125462

Title: Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.

PubMed ID: 29125462

DOI: 10.7554/elife.31012

PubMed ID: 7951216

Title: Missense mutation in the choroideremia gene.

PubMed ID: 7951216

DOI: 10.1093/hmg/3.6.1017

PubMed ID: 19427510

Title: The functional effect of pathogenic mutations in Rab escort protein 1.

PubMed ID: 19427510

DOI: 10.1016/j.mrfmmm.2009.02.015

Sequence Information:

  • Length: 653
  • Mass: 73476
  • Checksum: 7CFFAECE7BA1F3AF
  • Sequence:
  • MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK 
    EYQENSDIVS DSPVWQDQIL ENEEAIALSR KDKTIQHVEV FCYASQDLHE DVEEAGALQK 
    NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN 
    HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG 
    LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT 
    FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN 
    FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII 
    DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE 
    EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ 
    VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP 
    NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE

Genular Protein ID: 3829388678

Symbol: B4DRL9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 505
  • Mass: 57265
  • Checksum: 15F801C543052012
  • Sequence:
  • MSCEMLTEQT PSSDPENALE VNGAEVTGEK ENHCDDKTCV PSTSAEDMSE NVPIAEDTTE 
    QPKKNRITYS QIIKEGRRFN IDLVSKLLYS RGLLIDLLIK SNVSRYAEFK NITRILAFRE 
    GRVEQVPCSR ADVFNSKQLT MVEKRMLMKF LTFCMEYEKY PDEYKGYEEI TFYEYLKTQK 
    LTPNLQYIVM HSIAMTSETA SSTIDGLKAT KNFLHCLGRY GNTPFLFPLY GQGELPQCFC 
    RMCAVFGGIY CLRHSVQCLV VDKESRKCKA IIDQFGQRII SEHFLVEDSY FPENMCSRVQ 
    YRQISRAVLI TDRSVLKTDS DQQISILTVP AEEPGTFAVR VIELCSSTMT CMKGTYLVHL 
    TCTSSKTARE DLESVVQKLF VPYTEMEIEN EQVEKPRILW ALYFNMRDSS DISRSCYNDL 
    PSNVYVCSGP DCGLGNDNAV KQAETLFQEI CPNEDFCPPP PNPEDIILDG DSLQPEASES 
    SAIPEANSET FKESTNLGNL EESSE

Genular Protein ID: 2027369497

Symbol: A8K545_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 653
  • Mass: 73492
  • Checksum: ED59BECE7E32A271
  • Sequence:
  • MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK 
    EYQENSDIVS DSPVWQDQIL ENEEAIALCR KDKTIQHVEV FCYASQDLHE DVEEAGALQK 
    NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN 
    HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG 
    LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT 
    FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN 
    FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII 
    DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE 
    EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ 
    VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP 
    NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE