P3H2-AS1 (P3H2 antisense RNA 1) - Rat Genome Database

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Gene: P3H2-AS1 (P3H2 antisense RNA 1) Homo sapiens
Analyze
Symbol: P3H2-AS1
Name: P3H2 antisense RNA 1
RGD ID: 9588863
HGNC Page HGNC:40886
Description: ASSOCIATED WITH Schizophrenia; schizophrenia; INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LEPREL1-AS1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383190,120,964 - 190,144,846 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3190,120,944 - 190,150,162 (+)EnsemblGRCh38hg38GRCh38
GRCh373189,838,753 - 189,862,635 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3q28NCBI
HuRef3187,236,567 - 187,244,902 (+)NCBIHuRef
CHM1_13189,801,668 - 189,810,022 (+)NCBICHM1_1
T2T-CHM13v2.03192,937,330 - 192,961,162 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

Genomics

Variants

.
Variants in P3H2-AS1
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q28(chr3:190075909-190254725)x1 copy number loss See cases [RCV000135211] Chr3:190075909..190254725 [GRCh38]
Chr3:189793698..189972514 [GRCh37]
Chr3:191276392..191455208 [NCBI36]
Chr3:3q28		 likely benign
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q27.3-29(chr3:186765148-194409416)x1 copy number loss See cases [RCV000137962] Chr3:186765148..194409416 [GRCh38]
Chr3:186482937..194130145 [GRCh37]
Chr3:187965631..195611434 [NCBI36]
Chr3:3q27.3-29		 pathogenic|likely benign
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q27.3-28(chr3:187434386-192142942)x1 copy number loss See cases [RCV000143464] Chr3:187434386..192142942 [GRCh38]
Chr3:187152174..191860731 [GRCh37]
Chr3:188634868..193343425 [NCBI36]
Chr3:3q27.3-28		 likely pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q27.2-28(chr3:186204253-192214251)x1 copy number loss See cases [RCV000051609] Chr3:186204253..192214251 [GRCh38]
Chr3:185922042..191932040 [GRCh37]
Chr3:187404736..193414734 [NCBI36]
Chr3:3q27.2-28		 pathogenic
GRCh38/hg38 3q27.3-29(chr3:187446231-195029133)x1 copy number loss See cases [RCV000051610] Chr3:187446231..195029133 [GRCh38]
Chr3:187164019..194749862 [GRCh37]
Chr3:188646713..196231151 [NCBI36]
Chr3:3q27.3-29		 pathogenic
GRCh38/hg38 3q27.3-28(chr3:187446231-190839052)x1 copy number loss See cases [RCV000051611] Chr3:187446231..190839052 [GRCh38]
Chr3:187164019..190556841 [GRCh37]
Chr3:188646713..192039535 [NCBI36]
Chr3:3q27.3-28		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
NC_000003.12:g.(?_187222939)_(194312782_?)del deletion Schizophrenia [RCV000754274] Chr3:187222939..194312782 [GRCh38]
Chr3:3q27.3-29		 likely pathogenic
NM_001134418.2(P3H2):c.-64+872G>A single nucleotide variant not provided [RCV001616412] Chr3:190121331 [GRCh38]
Chr3:189839120 [GRCh37]
Chr3:3q28		 benign
NM_001134418.2(P3H2):c.-64+1049G>C single nucleotide variant not provided [RCV001562988] Chr3:190121154 [GRCh38]
Chr3:189838943 [GRCh37]
Chr3:3q28		 likely benign
NM_001134418.2(P3H2):c.-64+863del deletion not provided [RCV001710711] Chr3:190121340 [GRCh38]
Chr3:189839129 [GRCh37]
Chr3:3q28		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:227
Count of miRNA genes:223
Interacting mature miRNAs:225
Transcripts:ENST00000412203
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2 2 1 18 1 55 1 7 7 7
Low 458 37 288 27 540 27 1342 129 1393 319 663 489 12 1 16 633 4 2
Below cutoff 1508 1120 802 265 297 157 1497 976 1936 85 700 685 109 526 1084 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000412203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3190,120,964 - 190,145,107 (+)Ensembl
RefSeq Acc Id: ENST00000685757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3190,120,949 - 190,143,725 (+)Ensembl
RefSeq Acc Id: ENST00000691942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3190,120,944 - 190,150,162 (+)Ensembl
RefSeq Acc Id: NR_126419
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,120,964 - 190,144,846 (+)NCBI
CHM1_13189,801,631 - 189,825,475 (+)NCBI
T2T-CHM13v2.03192,937,330 - 192,961,162 (+)NCBI
Sequence:
Promoters
RGD ID:15095710
Promoter ID:EPDNEWNC_H552
Type:initiation region
Name:P3H2-AS1_1
Description:P3H2 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:40886]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383190,120,952 - 190,121,012EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC P3H2-AS1 COSMIC
Ensembl Genes ENSG00000225764 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000412203 ENTREZGENE
GTEx ENSG00000225764 GTEx
HGNC ID HGNC:40886 ENTREZGENE
Human Proteome Map P3H2-AS1 Human Proteome Map
NCBI Gene LEPREL1-AS1 ENTREZGENE
RNAcentral URS0000052DF4 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-12-16 P3H2-AS1  P3H2 antisense RNA 1  LEPREL1-AS1  LEPREL1 antisense RNA 1  Symbol and/or name change 5135510 APPROVED