Details for: ASPH

Gene ID: 444

Symbol: ASPH

Ensembl ID: ENSG00000198363

Description: aspartate beta-hydroxylase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 3.68
    Marker Score: 65256
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 3.39
    Marker Score: 4562
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 3.18
    Marker Score: 3961
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 3.13
    Marker Score: 13106
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.13
    Marker Score: 66818
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 3.1
    Marker Score: 3265
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 3.06
    Marker Score: 2012
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.99
    Marker Score: 3620
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.83
    Marker Score: 1035
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.8
    Marker Score: 807.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.77
    Marker Score: 810
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.69
    Marker Score: 1502
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.67
    Marker Score: 1553
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 2.6
    Marker Score: 1359
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.55
    Marker Score: 56873.5
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 2.54
    Marker Score: 3516
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 2.49
    Marker Score: 16223
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.49
    Marker Score: 5052
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.47
    Marker Score: 2987
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.42
    Marker Score: 38815
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 2.35
    Marker Score: 2082
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.31
    Marker Score: 2177
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.3
    Marker Score: 5747
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.27
    Marker Score: 2511.5
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.25
    Marker Score: 710
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 2.24
    Marker Score: 1767
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.24
    Marker Score: 1937
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.23
    Marker Score: 3284
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.22
    Marker Score: 1301
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.19
    Marker Score: 83326.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.19
    Marker Score: 32731.5
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.17
    Marker Score: 1505
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.11
    Marker Score: 73231
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.11
    Marker Score: 2256
  • Cell Name: basal cell (CL0000646)
    Fold Change: 2.06
    Marker Score: 2656
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 2.02
    Marker Score: 1352
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 2.01
    Marker Score: 991
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.01
    Marker Score: 4402
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2
    Marker Score: 7735
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.98
    Marker Score: 2242
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.96
    Marker Score: 3155
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.96
    Marker Score: 14991
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.93
    Marker Score: 445
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.93
    Marker Score: 118654.5
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.92
    Marker Score: 573
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.89
    Marker Score: 5383
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.87
    Marker Score: 7816.5
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.87
    Marker Score: 1793
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 1.85
    Marker Score: 3385
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.84
    Marker Score: 13712
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.84
    Marker Score: 7617
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.83
    Marker Score: 856
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.83
    Marker Score: 2511
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 1.82
    Marker Score: 4122
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.81
    Marker Score: 9491
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.8
    Marker Score: 7065.5
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 1.79
    Marker Score: 506
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.78
    Marker Score: 35446
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.78
    Marker Score: 991
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.78
    Marker Score: 16729.5
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.77
    Marker Score: 858
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.75
    Marker Score: 7117
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.75
    Marker Score: 2040
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.74
    Marker Score: 3958
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.74
    Marker Score: 6690.5
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.73
    Marker Score: 4236
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.72
    Marker Score: 1855
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.72
    Marker Score: 16344
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.72
    Marker Score: 17733
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.72
    Marker Score: 2123
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.7
    Marker Score: 3275
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.7
    Marker Score: 490
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.69
    Marker Score: 14506.5
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.69
    Marker Score: 1712
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.68
    Marker Score: 705
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.68
    Marker Score: 62107
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.63
    Marker Score: 5793
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 1.63
    Marker Score: 633
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.61
    Marker Score: 1440
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.6
    Marker Score: 2831
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.59
    Marker Score: 666
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 1.56
    Marker Score: 4076
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.55
    Marker Score: 977.5
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.54
    Marker Score: 7147
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.54
    Marker Score: 9851
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.52
    Marker Score: 1037
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.52
    Marker Score: 4062
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.51
    Marker Score: 2333
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.5
    Marker Score: 302
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.49
    Marker Score: 477
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.48
    Marker Score: 2351
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.48
    Marker Score: 1276
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 1.47
    Marker Score: 386
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 1.45
    Marker Score: 460
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 1.44
    Marker Score: 1184
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.44
    Marker Score: 581
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.44
    Marker Score: 355
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.4
    Marker Score: 4595
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.4
    Marker Score: 1686
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.4
    Marker Score: 3216

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Other Information

**Key characteristics:** - It is a protein with a molecular weight of approximately 150 kDa. - It is expressed in a wide range of cell types, including epithelial cells, neurons, and immune cells. - It is highly expressed in the brain, particularly in the cerebral cortex and central nervous system. - It is a key enzyme in the biosynthesis of argininosuccinic acid, a precursor to various signaling pathways. **Pathways and functions:** - ASPH is involved in multiple cellular processes, including: - Calcium ion binding and signaling - Cardiac conduction - Cell population proliferation - Electron transfer activity - Gamma carboxylation - Hypusinylation - Hydroxylation - Arylsulfatase activation - Ion channel transport - Ion homeostasis - Metabolism of proteins - Muscle contraction - Negative regulation of cell population proliferation - Pattern specification process - Peptidyl-aspartic acid 3-dioxygenase activity - Post-translational protein modification - Protein binding - Protein hydroxylation **Clinical significance:** - Mutations in the ASPH gene have been linked to several human diseases, including: - Congenital adrenal hyperplasia - Cerebrospinal fluid abnormalities - Diabetes mellitus - Cancer - Cardiovascular disease **Conclusion:** The ASPH gene is a crucial enzyme involved in various cellular processes, including calcium signaling, cardiac conduction, cell proliferation, and metabolism. Its clinical significance highlights its importance in maintaining homeostasis and protecting against diseases associated with its mutations.

Genular Protein ID: 391388776

Symbol: ASPH_HUMAN

Name: Aspartyl/asparaginyl beta-hydroxylase

UniProtKB Accession Codes:

Q12797 A0A0A0MSK8 A6NDF4 A6NHI2 B4DIC9 B4E2K4 B7ZM95 E5RGP5 F5H667 Q6NXR7 Q8TB28 Q9H291 Q9H2C4 Q9NRI0 Q9NRI1 Q9Y4J0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 11 CTD 1 ChEBI 18 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 1 EMBL 20 EPD 1 Ensembl 11 EvolutionaryTrace 1 ExpressionAtlas 1 GO 40 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 29 PDBsum 26 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 10 Pumba 1 RNAct 1 Reactome 3 RefSeq 10 Rhea 3 SAM 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 2 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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: 3380169666

Symbol: B4DQ07_HUMAN

Name: N/A

UniProtKB Accession Codes:

B4DQ07

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 EMBL 2 GO 2 Genevisible 1 GenomeRNAi 1 InterPro 2 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 2

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

Genular Protein ID: 3000180067

Symbol: B7ZM96_HUMAN

Name: N/A

UniProtKB Accession Codes:

B7ZM96

Database IDs:

ARBA 8 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 2 GO 2 Genevisible 1 GenomeRNAi 1 InterPro 2 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 2 PharmGKB 1 RefSeq 1 SAM 2

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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.