OPLAH (5-oxoprolinase, ATP-hydrolysing) - Rat Genome Database
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Gene: OPLAH (5-oxoprolinase, ATP-hydrolysing) Homo sapiens
Analyze
Symbol: OPLAH
Name: 5-oxoprolinase, ATP-hydrolysing
RGD ID: 733077
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Predicted to be involved in glutathione metabolic process. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5-Opase; 5-oxo-L-prolinase; 5-oxoprolinase; 5-oxoprolinase (ATP-hydrolysing); DKFZp434H244; OPLA; OPLAHD; pyroglutamase
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,051,266 - 144,063,965 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,051,266 - 144,064,026 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,106,167 - 145,115,595 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh378145,106,167 - 145,115,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,178,155 - 145,186,959 (-)NCBINCBI36hg18NCBI36
Build 348145,178,164 - 145,186,923NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,381,985 - 140,391,401 (-)NCBIHuRef
CHM1_18145,146,427 - 145,155,865 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IBA,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:14744259   PMID:14993790   PMID:15146197   PMID:20413906   PMID:21651516   PMID:21873635   PMID:21886157   PMID:21988832   PMID:23430506   PMID:24816252   PMID:25851806  
PMID:27477828   PMID:29229926   PMID:32296183  


Genomics

Comparative Map Data
OPLAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,051,266 - 144,063,965 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,051,266 - 144,064,026 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,106,167 - 145,115,595 (-)NCBIGRCh37GRCh37hg19GRCh37
GRCh378145,106,167 - 145,115,584 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,178,155 - 145,186,959 (-)NCBINCBI36hg18NCBI36
Build 348145,178,164 - 145,186,923NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,381,985 - 140,391,401 (-)NCBIHuRef
CHM1_18145,146,427 - 145,155,865 (-)NCBICHM1_1
Oplah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,180,803 - 76,215,381 (-)NCBIGRCm39mm39
GRCm381576,296,603 - 76,331,181 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,296,601 - 76,328,015 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,127,033 - 76,137,675 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,123,858 - 76,134,500 (-)NCBImm8
Celera1577,796,663 - 77,807,305 (-)NCBICelera
Cytogenetic Map15D3NCBI
Oplah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,011,472 - 108,051,751 (-)NCBI
Rnor_6.0 Ensembl7117,353,786 - 117,369,159 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,353,951 - 117,394,205 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,339,710 - 117,355,461 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,326,739 - 114,341,949 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,360,968 - 114,376,179 (-)NCBI
Celera7104,364,174 - 104,379,376 (-)NCBICelera
Cytogenetic Map7q34NCBI
Oplah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,707,819 - 2,720,992 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,707,819 - 2,735,375 (-)NCBIChiLan1.0ChiLan1.0
OPLAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1337,555,045 - 37,564,810 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11337,555,035 - 37,564,241 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Oplah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364708,126,677 - 8,139,556 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OPLAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4629,870 - 639,406 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14629,901 - 639,420 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24774,806 - 790,325 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OPLAH
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,263,419 - 138,273,279 (-)NCBI
ChlSab1.1 Ensembl8138,259,670 - 138,273,179 (-)Ensembl
Oplah
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,743,369 - 12,776,098 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1803
Count of miRNA genes:845
Interacting mature miRNAs:1015
Transcripts:ENST00000426825, ENST00000527993, ENST00000531027, ENST00000534424, ENST00000567871
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 adipose tissue appendage entire extraembryonic component
High
Medium 1919 1256 1205 561 855 412 3212 1803 1100 257 1100 1079 160 884 1977 2
Low 507 1702 513 60 920 51 1096 381 2576 154 335 515 9 320 801 2
Below cutoff 1 24 1 117 26 7 20 4 10 10 1 10

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000527993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,052,770 - 144,054,653 (-)Ensembl
RefSeq Acc Id: ENST00000531027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,053,213 - 144,054,879 (-)Ensembl
RefSeq Acc Id: ENST00000567871   ⟹   ENSP00000481640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,058,887 - 144,063,965 (-)Ensembl
RefSeq Acc Id: ENST00000618853   ⟹   ENSP00000480476
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,051,266 - 144,060,692 (-)Ensembl
RefSeq Acc Id: NM_017570   ⟹   NP_060040
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,051,266 - 144,060,692 (-)NCBI
GRCh378145,106,167 - 145,115,584 (-)RGD
Build 368145,178,155 - 145,186,959 (-)NCBI Archive
HuRef8140,381,985 - 140,391,401 (-)ENTREZGENE
CHM1_18145,146,427 - 145,155,865 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516960   ⟹   XP_011515262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,051,266 - 144,064,026 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745509
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,052,236 - 144,064,026 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060040   ⟸   NM_017570
- UniProtKB: O14841 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515262   ⟸   XM_011516960
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000480476   ⟸   ENST00000618853
RefSeq Acc Id: ENSP00000481640   ⟸   ENST00000567871
Promoters
RGD ID:7214425
Promoter ID:EPDNEW_H12955
Type:initiation region
Name:OPLAH_1
Description:5-oxoprolinase (ATP-hydrolysing)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12956  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,060,692 - 144,060,752EPDNEW
RGD ID:7214419
Promoter ID:EPDNEW_H12956
Type:initiation region
Name:OPLAH_2
Description:5-oxoprolinase (ATP-hydrolysing)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12955  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,063,958 - 144,064,018EPDNEW
RGD ID:6806472
Promoter ID:HG_KWN:62307
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003ZAS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,182,091 - 145,183,042 (-)MPROMDB
RGD ID:6806471
Promoter ID:HG_KWN:62308
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003ZAT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,186,041 - 145,186,547 (-)MPROMDB
RGD ID:6806908
Promoter ID:HG_KWN:62309
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003ZAR.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,186,941 - 145,187,852 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017570.5(OPLAH):c.2608dup (p.His870fs) duplication 5-Oxoprolinase deficiency [RCV000024129] Chr8:144054638..144054639 [GRCh38]
Chr8:145109541..145109542 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.969C>A (p.Ser323Arg) single nucleotide variant 5-Oxoprolinase deficiency [RCV000032835] Chr8:144058129 [GRCh38]
Chr8:145113032 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.3265G>A (p.Val1089Ile) single nucleotide variant 5-Oxoprolinase deficiency [RCV000032836] Chr8:144052487 [GRCh38]
Chr8:145107390 [GRCh37]
Chr8:8q24.3
pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) single nucleotide variant not provided [RCV000171537] Chr8:144055135 [GRCh38]
Chr8:145110038 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.587+1G>C single nucleotide variant not provided [RCV000599134] Chr8:144058772 [GRCh38]
Chr8:145113675 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144725942-145508436)x3 copy number gain See cases [RCV000447256] Chr8:144725942..145508436 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_017570.5(OPLAH):c.2770C>T (p.Arg924Cys) single nucleotide variant not provided [RCV000439700] Chr8:144053310 [GRCh38]
Chr8:145108213 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_017570.5(OPLAH):c.2964C>T (p.Asp988=) single nucleotide variant 5-Oxoprolinase deficiency [RCV000634838] Chr8:144053037 [GRCh38]
Chr8:145107940 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
NM_017570.5(OPLAH):c.2473G>A (p.Gly825Arg) single nucleotide variant 5-Oxoprolinase deficiency [RCV000701474] Chr8:144054850 [GRCh38]
Chr8:145109753 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) single nucleotide variant 5-Oxoprolinase deficiency [RCV000714676] Chr8:144055806 [GRCh38]
Chr8:145110709 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.2557C>T (p.Arg853Ter) single nucleotide variant 5-Oxoprolinase deficiency [RCV000693697] Chr8:144054690 [GRCh38]
Chr8:145109593 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.1424C>T (p.Ala475Val) single nucleotide variant 5-Oxoprolinase deficiency [RCV000691326] Chr8:144057319 [GRCh38]
Chr8:145112222 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1258C>T (p.Pro420Ser) single nucleotide variant 5-Oxoprolinase deficiency [RCV000704194] Chr8:144057612 [GRCh38]
Chr8:145112515 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145101381-145120635)x3 copy number gain not provided [RCV000748004] Chr8:145101381..145120635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145128890)x3 copy number gain not provided [RCV000748005] Chr8:145101381..145128890 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145138094)x3 copy number gain not provided [RCV000748006] Chr8:145101381..145138094 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101381-145161823)x3 copy number gain not provided [RCV000748007] Chr8:145101381..145161823 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145101585-145120635)x3 copy number gain not provided [RCV000748008] Chr8:145101585..145120635 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.471G>A (p.Thr157=) single nucleotide variant 5-Oxoprolinase deficiency [RCV000967111] Chr8:144058889 [GRCh38]
Chr8:145113792 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.3500_3501= (p.Gly1167=) variation 5-Oxoprolinase deficiency [RCV000947145] Chr8:144052037..144052038 [GRCh38]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2792A>G (p.Gln931Arg) single nucleotide variant 5-Oxoprolinase deficiency [RCV000973779] Chr8:144053288 [GRCh38]
Chr8:145108191 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.3655C>T (p.Leu1219=) single nucleotide variant not provided [RCV000880839] Chr8:144051794 [GRCh38]
Chr8:145106695 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1497C>T (p.Ile499=) single nucleotide variant not provided [RCV000902593] Chr8:144057246 [GRCh38]
Chr8:145112149 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.3808C>T (p.Leu1270=) single nucleotide variant not provided [RCV000970667] Chr8:144051385 [GRCh38]
Chr8:145106286 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.3156C>T (p.Gly1052=) single nucleotide variant not provided [RCV000925171] Chr8:144052596 [GRCh38]
Chr8:145107499 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1918G>A (p.Gly640Ser) single nucleotide variant not provided [RCV000970531] Chr8:144056450 [GRCh38]
Chr8:145111353 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.493C>T (p.Gln165Ter) single nucleotide variant 5-Oxoprolinase deficiency [RCV001061849] Chr8:144058867 [GRCh38]
Chr8:145113770 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.1680T>G (p.Asp560Glu) single nucleotide variant 5-Oxoprolinase deficiency [RCV001056213] Chr8:144056974 [GRCh38]
Chr8:145111877 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.843C>G (p.Ser281Arg) single nucleotide variant 5-Oxoprolinase deficiency [RCV001036590] Chr8:144058345 [GRCh38]
Chr8:145113248 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.2669G>C (p.Gly890Ala) single nucleotide variant 5-Oxoprolinase deficiency [RCV000806115] Chr8:144054578 [GRCh38]
Chr8:145109481 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.82G>A (p.Gly28Arg) single nucleotide variant Nocturnal frontal lobe epilepsy [RCV000770939] Chr8:144059951 [GRCh38]
Chr8:145114854 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1973G>T (p.Arg658Leu) single nucleotide variant not provided [RCV000907985] Chr8:144056395 [GRCh38]
Chr8:145111298 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2096+8G>A single nucleotide variant 5-Oxoprolinase deficiency [RCV000972282] Chr8:144056139 [GRCh38]
Chr8:145111042 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1633G>A (p.Val545Met) single nucleotide variant not provided [RCV000887169] Chr8:144057021 [GRCh38]
Chr8:145111924 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2346G>T (p.Leu782=) single nucleotide variant not provided [RCV000897562] Chr8:144055092 [GRCh38]
Chr8:145109995 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.36C>T (p.Ile12=) single nucleotide variant not provided [RCV000907637] Chr8:144059997 [GRCh38]
Chr8:145114900 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1502G>A (p.Arg501Gln) single nucleotide variant 5-Oxoprolinase deficiency [RCV000960566] Chr8:144057241 [GRCh38]
Chr8:145112144 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.187C>T (p.Leu63=) single nucleotide variant not provided [RCV000891611] Chr8:144059775 [GRCh38]
Chr8:145114678 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.2608C>G (p.His870Asp) single nucleotide variant not provided [RCV000892882] Chr8:144054639 [GRCh38]
Chr8:145109542 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.3444T>G (p.Pro1148=) single nucleotide variant not provided [RCV000914258] Chr8:144052186 [GRCh38]
Chr8:145107089 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1318A>G (p.Asn440Asp) single nucleotide variant not provided [RCV000893508] Chr8:144057552 [GRCh38]
Chr8:145112455 [GRCh37]
Chr8:8q24.3
likely benign
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1340C>T (p.Pro447Leu) single nucleotide variant 5-Oxoprolinase deficiency [RCV000797333] Chr8:144057530 [GRCh38]
Chr8:145112433 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln) single nucleotide variant 5-Oxoprolinase deficiency [RCV000785140] Chr8:144052278 [GRCh38]
Chr8:145107181 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NM_017570.5(OPLAH):c.3518G>A (p.Arg1173His) single nucleotide variant 5-Oxoprolinase deficiency [RCV000818726] Chr8:144052020 [GRCh38]
Chr8:145106921 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1972C>T (p.Arg658Trp) single nucleotide variant 5-Oxoprolinase deficiency [RCV000808493] Chr8:144056396 [GRCh38]
Chr8:145111299 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.430C>T (p.Arg144Cys) single nucleotide variant 5-Oxoprolinase deficiency [RCV000814206] Chr8:144059013 [GRCh38]
Chr8:145113916 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_017570.5(OPLAH):c.2512-7C>A single nucleotide variant 5-Oxoprolinase deficiency [RCV000891744] Chr8:144054742 [GRCh38]
Chr8:145109645 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_017570.5(OPLAH):c.2273G>A (p.Arg758His) single nucleotide variant not provided [RCV000999107] Chr8:144055165 [GRCh38]
Chr8:145110068 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1806G>A (p.Ser602=) single nucleotide variant 5-Oxoprolinase deficiency [RCV001240250] Chr8:144056656 [GRCh38]
Chr8:145111559 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1939G>A (p.Glu647Lys) single nucleotide variant 5-Oxoprolinase deficiency [RCV001241512] Chr8:144056429 [GRCh38]
Chr8:145111332 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
NM_017570.5(OPLAH):c.2523G>A (p.Pro841=) single nucleotide variant 5-Oxoprolinase deficiency [RCV000974688] Chr8:144054724 [GRCh38]
Chr8:145109627 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2568C>T (p.His856=) single nucleotide variant not provided [RCV000930088] Chr8:144054679 [GRCh38]
Chr8:145109582 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.364-9C>T single nucleotide variant not provided [RCV000919876] Chr8:144059088 [GRCh38]
Chr8:145113991 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) single nucleotide variant not provided [RCV000910712] Chr8:144057498 [GRCh38]
Chr8:145112401 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1921C>T (p.Arg641Cys) single nucleotide variant not provided [RCV000887575] Chr8:144056447 [GRCh38]
Chr8:145111350 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.1089-5C>T single nucleotide variant 5-Oxoprolinase deficiency [RCV000960905] Chr8:144057928 [GRCh38]
Chr8:145112831 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2160C>T (p.Ser720=) single nucleotide variant not provided [RCV000918254] Chr8:144055876 [GRCh38]
Chr8:145110779 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.3720+8C>T single nucleotide variant not provided [RCV000886995] Chr8:144051721 [GRCh38]
Chr8:145106622 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2989C>T (p.Arg997Cys) single nucleotide variant 5-Oxoprolinase deficiency [RCV000887071] Chr8:144053012 [GRCh38]
Chr8:145107915 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.1884G>A (p.Pro628=) single nucleotide variant not provided [RCV000908284] Chr8:144056484 [GRCh38]
Chr8:145111387 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.171+6C>A single nucleotide variant 5-Oxoprolinase deficiency [RCV000954183] Chr8:144059856 [GRCh38]
Chr8:145114759 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.587+1G>A single nucleotide variant 5-Oxoprolinase deficiency [RCV001068400] Chr8:144058772 [GRCh38]
Chr8:145113675 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.272G>A (p.Arg91Gln) single nucleotide variant 5-Oxoprolinase deficiency [RCV001232133] Chr8:144059690 [GRCh38]
Chr8:145114593 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.135C>T (p.Asp45=) single nucleotide variant 5-Oxoprolinase deficiency [RCV001217133] Chr8:144059898 [GRCh38]
Chr8:145114801 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.2654A>G (p.Lys885Arg) single nucleotide variant 5-Oxoprolinase deficiency [RCV001237430] Chr8:144054593 [GRCh38]
Chr8:145109496 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.2987dup (p.Arg997fs) duplication 5-Oxoprolinase deficiency [RCV001227899] Chr8:144053013..144053014 [GRCh38]
Chr8:145107916..145107917 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.3571C>T (p.Leu1191=) single nucleotide variant 5-Oxoprolinase deficiency [RCV000956681] Chr8:144051967 [GRCh38]
Chr8:145106868 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.2097-8C>T single nucleotide variant 5-Oxoprolinase deficiency [RCV000956682] Chr8:144055947 [GRCh38]
Chr8:145110850 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.805C>T (p.Arg269Cys) single nucleotide variant 5-Oxoprolinase deficiency [RCV000956683] Chr8:144058383 [GRCh38]
Chr8:145113286 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.402G>A (p.Leu134=) single nucleotide variant 5-Oxoprolinase deficiency [RCV000956684] Chr8:144059041 [GRCh38]
Chr8:145113944 [GRCh37]
Chr8:8q24.3
benign
NM_017570.5(OPLAH):c.154C>T (p.Arg52Cys) single nucleotide variant 5-Oxoprolinase deficiency [RCV000956685] Chr8:144059879 [GRCh38]
Chr8:145114782 [GRCh37]
Chr8:8q24.3
likely benign
NM_017570.5(OPLAH):c.378T>G (p.Pro126=) single nucleotide variant 5-Oxoprolinase deficiency [RCV000911832] Chr8:144059065 [GRCh38]
Chr8:145113968 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_017570.5(OPLAH):c.2973C>G (p.Asp991Glu) single nucleotide variant 5-Oxoprolinase deficiency [RCV001047669] Chr8:144053028 [GRCh38]
Chr8:145107931 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_017570.5(OPLAH):c.1909C>T (p.Arg637Trp) single nucleotide variant 5-Oxoprolinase deficiency [RCV001058615] Chr8:144056459 [GRCh38]
Chr8:145111362 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8149 AgrOrtholog
COSMIC OPLAH COSMIC
Ensembl Genes ENSG00000178814 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000480476 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481640 UniProtKB/TrEMBL
Ensembl Transcript ENST00000567871 UniProtKB/TrEMBL
  ENST00000618853 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000178814 GTEx
HGNC ID HGNC:8149 ENTREZGENE
Human Proteome Map OPLAH Human Proteome Map
InterPro Hydant_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydantoinase_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydantoinase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Speriolin_N UniProtKB/TrEMBL
KEGG Report hsa:26873 UniProtKB/Swiss-Prot
NCBI Gene 26873 ENTREZGENE
OMIM 260005 OMIM
  614243 OMIM
Pfam Hydant_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydantoinase_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hydantoinase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Speriolin_N UniProtKB/TrEMBL
PharmGKB PA31935 PharmGKB
UniProt A0A087WY99_HUMAN UniProtKB/TrEMBL
  A7E261_HUMAN UniProtKB/TrEMBL
  O14841 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5PKY8 UniProtKB/Swiss-Prot
  Q75W65 UniProtKB/Swiss-Prot
  Q9Y4Q0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-15 OPLAH  5-oxoprolinase, ATP-hydrolysing    5-oxoprolinase (ATP-hydrolysing)  Symbol and/or name change 5135510 APPROVED
2012-06-27 OPLAH  5-oxoprolinase (ATP-hydrolysing)  OPLAH  5-oxoprolinase (ATP-hydrolysing)  Symbol and/or name change 5135510 APPROVED