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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for MAOA |
Gene summary |
Gene information | Gene symbol | MAOA | Gene ID | 4128 |
Gene name | monoamine oxidase A | |
Synonyms | BRNRS|MAO-A | |
Cytomap | Xp11.3 | |
Type of gene | protein-coding | |
Description | amine oxidase [flavin-containing] Amonoamine oxidase type A | |
Modification date | 20180519 | |
UniProtAcc | P21397 | |
Context | PubMed: MAOA [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for MAOA from UCSC genome browser |
Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for MAOA |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MAOA |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_509850 | X | 43515549:43515662:43517109:43517217:43542760:43542855 | 43517109:43517217 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1 |
exon_skip_509853 | X | 43517109:43517217:43542760:43542855:43552537:43552675 | 43542760:43542855 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1 |
exon_skip_509856 | X | 43542760:43542855:43552537:43552675:43571118:43571223 | 43552537:43552675 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1,ENST00000338702.3 |
exon_skip_509857 | X | 43552537:43552675:43571118:43571223:43571951:43572043 | 43571118:43571223 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1,ENST00000338702.3 |
exon_skip_509859 | X | 43571951:43572043:43587419:43587561:43590487:43590629 | 43587419:43587561 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1,ENST00000338702.3 |
exon_skip_509861 | X | 43591945:43592042:43595473:43595527:43599927:43599985 | 43595473:43595527 | ENSG00000189221.5 | ENST00000542639.1,ENST00000338702.3 |
exon_skip_509863 | X | 43601196:43601294:43603040:43603152:43603355:43603418 | 43603040:43603152 | ENSG00000189221.5 | ENST00000542639.1,ENST00000338702.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAOA |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_509850 | X | 43515549:43515662:43517109:43517217:43542760:43542855 | 43517109:43517217 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1 |
exon_skip_509853 | X | 43517109:43517217:43542760:43542855:43552537:43552675 | 43542760:43542855 | ENSG00000189221.5 | ENST00000542639.1,ENST00000497485.1 |
exon_skip_509856 | X | 43542760:43542855:43552537:43552675:43571118:43571223 | 43552537:43552675 | ENSG00000189221.5 | ENST00000338702.3,ENST00000542639.1,ENST00000497485.1 |
exon_skip_509857 | X | 43552537:43552675:43571118:43571223:43571951:43572043 | 43571118:43571223 | ENSG00000189221.5 | ENST00000338702.3,ENST00000542639.1,ENST00000497485.1 |
exon_skip_509859 | X | 43571951:43572043:43587419:43587561:43590487:43590629 | 43587419:43587561 | ENSG00000189221.5 | ENST00000338702.3,ENST00000542639.1,ENST00000497485.1 |
exon_skip_509861 | X | 43591945:43592042:43595473:43595527:43599927:43599985 | 43595473:43595527 | ENSG00000189221.5 | ENST00000338702.3,ENST00000542639.1 |
exon_skip_509863 | X | 43601196:43601294:43603040:43603152:43603355:43603418 | 43603040:43603152 | ENSG00000189221.5 | ENST00000338702.3,ENST00000542639.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MAOA |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000338702 | 43587419 | 43587561 | Frame-shift |
ENST00000338702 | 43603040 | 43603152 | Frame-shift |
ENST00000338702 | 43552537 | 43552675 | In-frame |
ENST00000338702 | 43571118 | 43571223 | In-frame |
ENST00000338702 | 43595473 | 43595527 | In-frame |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000338702 | 43587419 | 43587561 | Frame-shift |
ENST00000338702 | 43603040 | 43603152 | Frame-shift |
ENST00000338702 | 43552537 | 43552675 | In-frame |
ENST00000338702 | 43571118 | 43571223 | In-frame |
ENST00000338702 | 43595473 | 43595527 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAOA |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000338702 | 4032 | 527 | 43552537 | 43552675 | 292 | 429 | 56 | 102 |
ENST00000338702 | 4032 | 527 | 43571118 | 43571223 | 430 | 534 | 102 | 137 |
ENST00000338702 | 4032 | 527 | 43595473 | 43595527 | 1176 | 1229 | 351 | 368 |
Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000338702 | 4032 | 527 | 43552537 | 43552675 | 292 | 429 | 56 | 102 |
ENST00000338702 | 4032 | 527 | 43571118 | 43571223 | 430 | 534 | 102 | 137 |
ENST00000338702 | 4032 | 527 | 43595473 | 43595527 | 1176 | 1229 | 351 | 368 |
Lost protein functional features of individual exon skipping events in TCGA. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
P21397 | 56 | 102 | 1 | 133 | Alternative sequence | ID=VSP_045173;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21397 | 56 | 102 | 54 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5X |
P21397 | 56 | 102 | 61 | 66 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 88 | 90 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 94 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 1 | 527 | Chain | ID=PRO_0000099850;Note=Amine oxidase [flavin-containing] A |
P21397 | 56 | 102 | 75 | 83 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 1 | 497 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18391214;Dbxref=PMID:18391214 |
P21397 | 56 | 102 | 58 | 60 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 1 | 133 | Alternative sequence | ID=VSP_045173;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21397 | 102 | 137 | 104 | 108 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 110 | 112 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 1 | 527 | Chain | ID=PRO_0000099850;Note=Amine oxidase [flavin-containing] A |
P21397 | 102 | 137 | 118 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 1 | 497 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18391214;Dbxref=PMID:18391214 |
P21397 | 351 | 368 | 348 | 354 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 351 | 368 | 1 | 527 | Chain | ID=PRO_0000099850;Note=Amine oxidase [flavin-containing] A |
P21397 | 351 | 368 | 355 | 361 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 351 | 368 | 366 | 381 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 351 | 368 | 1 | 497 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18391214;Dbxref=PMID:18391214 |
Lost protein functional features of individual exon skipping events in GTEx. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
P21397 | 56 | 102 | 1 | 133 | Alternative sequence | ID=VSP_045173;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21397 | 56 | 102 | 54 | 57 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5X |
P21397 | 56 | 102 | 61 | 66 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 88 | 90 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 94 | 101 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 1 | 527 | Chain | ID=PRO_0000099850;Note=Amine oxidase [flavin-containing] A |
P21397 | 56 | 102 | 75 | 83 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 56 | 102 | 1 | 497 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18391214;Dbxref=PMID:18391214 |
P21397 | 56 | 102 | 58 | 60 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 1 | 133 | Alternative sequence | ID=VSP_045173;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
P21397 | 102 | 137 | 104 | 108 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 110 | 112 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 1 | 527 | Chain | ID=PRO_0000099850;Note=Amine oxidase [flavin-containing] A |
P21397 | 102 | 137 | 118 | 136 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 102 | 137 | 1 | 497 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18391214;Dbxref=PMID:18391214 |
P21397 | 351 | 368 | 348 | 354 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 351 | 368 | 1 | 527 | Chain | ID=PRO_0000099850;Note=Amine oxidase [flavin-containing] A |
P21397 | 351 | 368 | 355 | 361 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 351 | 368 | 366 | 381 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2Z5Y |
P21397 | 351 | 368 | 1 | 497 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18391214;Dbxref=PMID:18391214 |
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SNVs in the skipped exons for MAOA |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
UCEC | TCGA-B5-A0K9-01 | exon_skip_509857 | 43571119 | 43571223 | 43571127 | 43571128 | Frame_Shift_Del | AT | - | p.T105fs |
STAD | TCGA-BR-4362-01 | exon_skip_509859 | 43587420 | 43587561 | 43587520 | 43587520 | Frame_Shift_Del | G | - | p.C201fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_509861 | 43595474 | 43595527 | 43595490 | 43595490 | Frame_Shift_Del | A | - | p.K357fs |
ACC | TCGA-OR-A5LR-01 | exon_skip_509861 | 43595474 | 43595527 | 43595521 | 43595530 | Frame_Shift_Del | AAATAAGGTA | - | p.367_369del |
BRCA | TCGA-BH-A0H9-01 | exon_skip_509863 | 43603041 | 43603152 | 43603045 | 43603046 | Frame_Shift_Ins | - | T | p.R424fs |
UCEC | TCGA-AP-A056-01 | exon_skip_509853 | 43542761 | 43542855 | 43542835 | 43542835 | Nonsense_Mutation | G | T | p.G50* |
SKCM | TCGA-FS-A4F5-06 | exon_skip_509857 | 43571119 | 43571223 | 43571159 | 43571159 | Nonsense_Mutation | G | A | p.W116* |
SKCM | TCGA-FS-A4F5-06 | exon_skip_509857 | 43571119 | 43571223 | 43571159 | 43571159 | Nonsense_Mutation | G | A | p.W116X |
UCEC | TCGA-AX-A0J0-01 | exon_skip_509853 | 43542761 | 43542855 | 43542759 | 43542759 | Splice_Site | A | G | e2-2 |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43542761 | 43542855 | 43542798 | 43542799 | Missense_Mutation | TA | AT | p.S38C |
BICR18_UPPER_AERODIGESTIVE_TRACT | 43542761 | 43542855 | 43542850 | 43542850 | Missense_Mutation | A | G | p.I55V |
BICR18_UPPER_AERODIGESTIVE_TRACT | 43542761 | 43542855 | 43542852 | 43542852 | Missense_Mutation | A | G | p.I55M |
NCIH2347_LUNG | 43552538 | 43552675 | 43552571 | 43552571 | Missense_Mutation | G | C | p.A68P |
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43552538 | 43552675 | 43552655 | 43552655 | Missense_Mutation | C | T | p.R96C |
HCC2998_LARGE_INTESTINE | 43571119 | 43571223 | 43571137 | 43571137 | Missense_Mutation | C | T | p.R109W |
HOP92_LUNG | 43587420 | 43587561 | 43587431 | 43587431 | Missense_Mutation | G | T | p.R172L |
SNGM_ENDOMETRIUM | 43587420 | 43587561 | 43587466 | 43587466 | Missense_Mutation | T | G | p.S184A |
NUGC3_STOMACH | 43603041 | 43603152 | 43603052 | 43603052 | Missense_Mutation | A | C | p.Q425P |
SISO_CERVIX | 43603041 | 43603152 | 43603057 | 43603057 | Missense_Mutation | G | A | p.V427M |
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43603041 | 43603152 | 43603057 | 43603057 | Missense_Mutation | G | A | p.V427M |
HCT15_LARGE_INTESTINE | 43603041 | 43603152 | 43603133 | 43603133 | Missense_Mutation | G | A | p.G452E |
MFHINO_SOFT_TISSUE | 43552538 | 43552675 | 43552541 | 43552541 | Nonsense_Mutation | G | T | p.E58* |
SNUC5_LARGE_INTESTINE | 43603041 | 43603152 | 43603138 | 43603138 | Nonsense_Mutation | C | T | p.R454* |
WM1799_SKIN | 43587420 | 43587561 | 43587419 | 43587420 | Splice_Site | GG | AA | p.R168K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAOA |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAOA |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAOA |
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RelatedDrugs for MAOA |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
P21397 | DB00780 | Phenelzine | Amine oxidase [flavin-containing] A | small molecule | approved | |
P21397 | DB00805 | Minaprine | Amine oxidase [flavin-containing] A | small molecule | approved | |
P21397 | DB01247 | Isocarboxazid | Amine oxidase [flavin-containing] A | small molecule | approved | |
P21397 | DB01626 | Pargyline | Amine oxidase [flavin-containing] A | small molecule | approved | |
P21397 | DB00191 | Phentermine | Amine oxidase [flavin-containing] A | small molecule | approved|illicit | |
P21397 | DB01577 | Metamfetamine | Amine oxidase [flavin-containing] A | small molecule | approved|illicit | |
P21397 | DB00182 | Amphetamine | Amine oxidase [flavin-containing] A | small molecule | approved|illicit|investigational | |
P21397 | DB00752 | Tranylcypromine | Amine oxidase [flavin-containing] A | small molecule | approved|investigational | |
P21397 | DB00909 | Zonisamide | Amine oxidase [flavin-containing] A | small molecule | approved|investigational | |
P21397 | DB01168 | Procarbazine | Amine oxidase [flavin-containing] A | small molecule | approved|investigational | |
P21397 | DB01171 | Moclobemide | Amine oxidase [flavin-containing] A | small molecule | approved|investigational | |
P21397 | DB01171 | Moclobemide | Amine oxidase [flavin-containing] A | small molecule | approved|investigational | |
P21397 | DB00721 | Procaine | Amine oxidase [flavin-containing] A | small molecule | approved|investigational|vet_approved | |
P21397 | DB01037 | Selegiline | Amine oxidase [flavin-containing] A | small molecule | approved|investigational|vet_approved | |
P21397 | DB04820 | Nialamide | Amine oxidase [flavin-containing] A | small molecule | approved|withdrawn | |
P21397 | DB04821 | Nomifensine | Amine oxidase [flavin-containing] A | small molecule | approved|withdrawn | |
P21397 | DB04832 | Zimelidine | Amine oxidase [flavin-containing] A | small molecule | approved|withdrawn |
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RelatedDiseases for MAOA |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
MAOA | C0001973 | Alcoholic Intoxication, Chronic | 5 | PSYGENET |
MAOA | C0005586 | Bipolar Disorder | 5 | PSYGENET |
MAOA | C0011570 | Mental Depression | 5 | PSYGENET |
MAOA | C0011581 | Depressive disorder | 5 | PSYGENET |
MAOA | C0041696 | Unipolar Depression | 5 | PSYGENET |
MAOA | C0525045 | Mood Disorders | 5 | PSYGENET |
MAOA | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
MAOA | C0003431 | Antisocial Personality Disorder | 3 | CTD_human |
MAOA | C0004352 | Autistic Disorder | 3 | CTD_human;HPO |
MAOA | C0019151 | Hepatic Encephalopathy | 3 | CTD_human |
MAOA | C0036341 | Schizophrenia | 2 | PSYGENET |
MAOA | C0085762 | Alcohol abuse | 2 | PSYGENET |
MAOA | C0270458 | Severe major depression with psychotic features | 2 | PSYGENET |
MAOA | C2362914 | clinical depression | 2 | PSYGENET |
MAOA | C0004936 | Mental disorders | 1 | CTD_human |
MAOA | C0005587 | Depression, Bipolar | 1 | PSYGENET |
MAOA | C0009241 | Cognition Disorders | 1 | CTD_human |
MAOA | C0013415 | Dysthymic Disorder | 1 | PSYGENET |
MAOA | C0014175 | Endometriosis | 1 | CTD_human |
MAOA | C0020179 | Huntington Disease | 1 | CTD_human |
MAOA | C0020649 | Hypotension | 1 | CTD_human |
MAOA | C0026848 | Myopathy | 1 | CTD_human |
MAOA | C0030567 | Parkinson Disease | 1 | CTD_human |
MAOA | C0031511 | Pheochromocytoma | 1 | CTD_human |
MAOA | C0033054 | Prenatal Exposure Delayed Effects | 1 | CTD_human |
MAOA | C0033975 | Psychotic Disorders | 1 | PSYGENET |
MAOA | C0600427 | Cocaine Dependence | 1 | PSYGENET |
MAOA | C0745744 | End Stage Liver Disease | 1 | CTD_human |
MAOA | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
MAOA | C1285261 | Fetal Nutrition Disorders | 1 | CTD_human |
MAOA | C2063866 | Depressive Disorder, Treatment-Resistant | 1 | PSYGENET |