ADPRS (ADP-ribosylserine hydrolase) - Rat Genome Database

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Gene: ADPRS (ADP-ribosylserine hydrolase) Homo sapiens
Analyze
Symbol: ADPRS
Name: ADP-ribosylserine hydrolase
RGD ID: 1319201
HGNC Page HGNC
Description: Enables O-acetyl-ADP-ribose deacetylase activity; hydrolase activity, acting on glycosyl bonds; and magnesium ion binding activity. Involved in DNA repair; cellular response to superoxide; and peptidyl-serine ADP-deribosylation. Located in mitochondrion; nuclear body; and site of DNA damage. Implicated in stress-induced childhood-onset neurodegeneration with variable ataxia and seizures.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: [Protein ADP-ribosylarginine] hydrolase-like protein 2; [Protein ADP-ribosylserine] hydrolase; ADP-ribose glycohydrolase ARH3; ADP-ribosylarginine hydrolase like 2; ADP-ribosylhydrolase 3; ADP-ribosylhydrolase ARH3; ADP-ribosylhydrolase like 2; ADPRHL2; ARH3; CONDSIAS; FLJ20446; O-acetyl-ADP-ribose deacetylase ARH3; poly(ADP-ribose) glycohydrolase ARH3; protein ADP-ribosylarginine hydrolase-like protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
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
GRCh38136,088,892 - 36,093,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl136,088,892 - 36,093,932 (+)EnsemblGRCh38hg38GRCh38
GRCh37136,554,493 - 36,559,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36136,327,073 - 36,332,120 (+)NCBINCBI36hg18NCBI36
Build 34136,223,578 - 36,228,625NCBI
Celera134,828,871 - 34,833,951 (+)NCBI
Cytogenetic Map1p34.3NCBI
HuRef134,671,596 - 34,676,679 (+)NCBIHuRef
CHM1_1136,670,792 - 36,675,854 (+)NCBICHM1_1
T2T-CHM13v2.0135,951,768 - 35,956,812 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromosome  (IEA)
cytoplasm  (IDA,IEA)
mitochondrial matrix  (IEA,TAS)
mitochondrion  (IBA,IDA,IEA)
nuclear body  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA)
site of DNA damage  (IDA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12070318   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16169070   PMID:16278211   PMID:16511307   PMID:16710414   PMID:17015823   PMID:17075046   PMID:17991898  
PMID:18029348   PMID:21498885   PMID:21873635   PMID:22433848   PMID:25277244   PMID:26186194   PMID:26344197   PMID:28650317   PMID:29117863   PMID:29234005   PMID:29467282   PMID:29480802  
PMID:29791485   PMID:30045870   PMID:30401461   PMID:30472116   PMID:30830864   PMID:31536960   PMID:32296183   PMID:32552912   PMID:32636369   PMID:32753484   PMID:33186521   PMID:33769608  
PMID:33894202   PMID:33961781   PMID:34019811   PMID:34321462   PMID:34479984   PMID:34625544  


Genomics

Comparative Map Data
ADPRS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38136,088,892 - 36,093,932 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl136,088,892 - 36,093,932 (+)EnsemblGRCh38hg38GRCh38
GRCh37136,554,493 - 36,559,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36136,327,073 - 36,332,120 (+)NCBINCBI36hg18NCBI36
Build 34136,223,578 - 36,228,625NCBI
Celera134,828,871 - 34,833,951 (+)NCBI
Cytogenetic Map1p34.3NCBI
HuRef134,671,596 - 34,676,679 (+)NCBIHuRef
CHM1_1136,670,792 - 36,675,854 (+)NCBICHM1_1
T2T-CHM13v2.0135,951,768 - 35,956,812 (+)NCBI
Adprs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394126,210,144 - 126,215,496 (-)NCBIGRCm39mm39
GRCm39 Ensembl4126,209,840 - 126,215,496 (-)Ensembl
GRCm384126,316,351 - 126,321,703 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4126,316,047 - 126,321,703 (-)EnsemblGRCm38mm10GRCm38
MGSCv374125,993,595 - 125,998,947 (-)NCBIGRCm37mm9NCBIm37
MGSCv364125,818,655 - 125,824,007 (-)NCBImm8
Celera4124,653,077 - 124,658,430 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
Adprs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25138,614,022 - 138,619,296 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl5138,614,022 - 138,619,296 (-)Ensembl
Rnor_6.05144,336,312 - 144,341,586 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5144,336,312 - 144,341,586 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05148,103,569 - 148,108,843 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45145,685,493 - 145,690,767 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15145,695,997 - 145,700,757 (-)NCBI
Celera5137,110,910 - 137,116,184 (-)NCBICelera
Cytogenetic Map5q36NCBI
Adprs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545214,121,837 - 14,126,664 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545214,123,590 - 14,126,522 (+)NCBIChiLan1.0ChiLan1.0
ADPRS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1136,529,069 - 36,534,235 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl136,529,051 - 36,534,235 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0135,354,721 - 35,360,029 (+)NCBIMhudiblu_PPA_v0panPan3
ADPRS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1156,116,516 - 6,122,330 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl156,116,500 - 6,123,798 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha156,359,221 - 6,365,014 (-)NCBI
ROS_Cfam_1.0156,252,285 - 6,257,983 (-)NCBI
UMICH_Zoey_3.1156,105,199 - 6,110,798 (-)NCBI
UNSW_CanFamBas_1.0156,173,273 - 6,178,857 (-)NCBI
UU_Cfam_GSD_1.0156,188,250 - 6,194,010 (-)NCBI
Adprs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505852,755,833 - 52,761,543 (+)NCBI
SpeTri2.0NW_00493647418,580,615 - 18,586,325 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADPRS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl692,237,354 - 92,244,518 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1692,238,467 - 92,244,515 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2685,528,212 - 85,534,275 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADPRS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12096,762,823 - 96,768,336 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2096,762,360 - 96,768,057 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603319,958,847 - 19,963,863 (+)NCBIVero_WHO_p1.0
Adprs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476419,080,841 - 19,086,989 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462476419,081,804 - 19,086,989 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-74600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,559,034 - 36,559,153UniSTSGRCh37
Build 36136,331,621 - 36,331,740RGDNCBI36
Celera134,833,452 - 34,833,571RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,676,180 - 34,676,299UniSTS
TNG Radiation Hybrid Map117244.0UniSTS
GeneMap99-GB4 RH Map1111.15UniSTS
NCBI RH Map1220.4UniSTS
RH16011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37136,559,328 - 36,559,447UniSTSGRCh37
Build 36136,331,915 - 36,332,034RGDNCBI36
Celera134,833,746 - 34,833,865RGD
Cytogenetic Map1p34.3UniSTS
HuRef134,676,474 - 34,676,593UniSTS
GeneMap99-GB4 RH Map1109.71UniSTS
NCBI RH Map1228.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:275
Count of miRNA genes:245
Interacting mature miRNAs:262
Transcripts:ENST00000373178
Prediction methods:Miranda, Rnahybrid, Targetscan
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 2
Medium 2418 2540 1670 569 1762 410 4353 2033 3490 417 1453 1609 175 1 1204 2785 6 1
Low 21 451 56 55 188 55 4 164 244 2 5 4 3 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000373178   ⟹   ENSP00000362273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl136,088,892 - 36,093,932 (+)Ensembl
RefSeq Acc Id: NM_017825   ⟹   NP_060295
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38136,088,892 - 36,093,932 (+)NCBI
GRCh37136,554,453 - 36,559,533 (+)RGD
Build 36136,327,073 - 36,332,120 (+)NCBI Archive
Celera134,828,871 - 34,833,951 (+)RGD
HuRef134,671,596 - 34,676,679 (+)ENTREZGENE
CHM1_1136,670,792 - 36,675,854 (+)NCBI
T2T-CHM13v2.0135,951,768 - 35,956,812 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541636   ⟹   XP_011539938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38136,088,892 - 36,093,932 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060295   ⟸   NM_017825
- UniProtKB: Q9NX46 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011539938   ⟸   XM_011541636
- Peptide Label: isoform X1
- UniProtKB: B7ZAN4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000362273   ⟸   ENST00000373178

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NX46-F1-model_v2 AlphaFold Q9NX46 1-363 view protein structure

Promoters
RGD ID:6854968
Promoter ID:EPDNEW_H649
Type:initiation region
Name:ADPRHL2_1
Description:ADP-ribosylhydrolase like 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38136,088,895 - 36,088,955EPDNEW
RGD ID:6784640
Promoter ID:HG_KWN:1999
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000235510,   OTTHUMT00000020199,   OTTHUMT00000023451,   UC001BZU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36136,326,841 - 36,327,341 (+)MPROMDB
RGD ID:6850966
Promoter ID:EP73278
Type:multiple initiation site
Name:HS_ADPRHL2
Description:ADP-ribosylhydrolase like 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36136,327,085 - 36,327,145EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3(chr1:35934217-36821999)x4 copy number gain See cases [RCV000138892] Chr1:35934217..36821999 [GRCh38]
Chr1:36399818..37287600 [GRCh37]
Chr1:36172405..37060187 [NCBI36]
Chr1:1p34.3		 likely pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1 copy number loss See cases [RCV000448022] Chr1:34830287..36945093 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_017825.3(ADPRS):c.414_418del (p.Ala139fs) deletion Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000721142] Chr1:36091721..36091725 [GRCh38]
Chr1:36557322..36557326 [GRCh37]
Chr1:1p34.3		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_017825.3(ADPRS):c.100G>A (p.Asp34Asn) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000721144] Chr1:36089004 [GRCh38]
Chr1:36554605 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_017825.3(ADPRS):c.1000C>T (p.Gln334Ter) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000721139] Chr1:36093294 [GRCh38]
Chr1:36558895 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000721140] Chr1:36091625 [GRCh38]
Chr1:36557226 [GRCh37]
Chr1:1p34.3		 pathogenic|likely pathogenic
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000721141] Chr1:36091267 [GRCh38]
Chr1:36556868 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_017825.3(ADPRS):c.530C>T (p.Ser177Leu) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000721143] Chr1:36091923 [GRCh38]
Chr1:36557524 [GRCh37]
Chr1:1p34.3		 pathogenic
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000735981]|not provided [RCV002067181] Chr1:36093298 [GRCh38]
Chr1:36558899 [GRCh37]
Chr1:1p34.3		 pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_017825.3(ADPRS):c.292del (p.Val98fs) deletion Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000735982] Chr1:36091323 [GRCh38]
Chr1:36556924 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_017825.3(ADPRS):c.639_642del (p.Lys213fs) deletion Bilateral sensorineural hearing impairment [RCV001089937]|Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV001254921] Chr1:36092029..36092032 [GRCh38]
Chr1:36557630..36557633 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000986287] Chr1:36091794 [GRCh38]
Chr1:36557395 [GRCh37]
Chr1:1p34.3		 likely pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_017825.3(ADPRS):c.416_426del (p.Ala139fs) deletion not provided [RCV001057178] Chr1:36091724..36091734 [GRCh38]
Chr1:36557325..36557335 [GRCh37]
Chr1:1p34.3		 pathogenic
GRCh37/hg19 1p34.3(chr1:36496921-36829945)x3 copy number gain not provided [RCV000847964] Chr1:36496921..36829945 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_017825.3(ADPRS):c.169_170del (p.Leu58fs) microsatellite Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000991356] Chr1:36089071..36089072 [GRCh38]
Chr1:36554672..36554673 [GRCh37]
Chr1:1p34.3		 likely pathogenic
NM_017825.3(ADPRS):c.744_746del (p.Lys248_Ile249delinsAsn) deletion Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV000995689]|not provided [RCV001544716] Chr1:36092464..36092466 [GRCh38]
Chr1:36558065..36558067 [GRCh37]
Chr1:1p34.3		 likely pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
NM_017825.3(ADPRS):c.384G>A (p.Leu128=) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV001330785] Chr1:36091693 [GRCh38]
Chr1:36557294 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_017825.3(ADPRS):c.491A>G (p.Tyr164Cys) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV001330786] Chr1:36091800 [GRCh38]
Chr1:36557401 [GRCh37]
Chr1:1p34.3		 uncertain significance
NM_017825.3(ADPRS):c.136G>T (p.Val46Phe) single nucleotide variant Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures [RCV001330784] Chr1:36089040 [GRCh38]
Chr1:36554641 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p34.3(chr1:36041366-39112237) copy number loss not specified [RCV002053236] Chr1:36041366..39112237 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p34.3(chr1:35950860-36635695) copy number gain not specified [RCV002053225] Chr1:35950860..36635695 [GRCh37]
Chr1:1p34.3		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_017825.3(ADPRS):c.340_341del (p.Arg114fs) deletion ADPRHL2-Related Disorder [RCV001825182] Chr1:36091649..36091650 [GRCh38]
Chr1:36557250..36557251 [GRCh37]
Chr1:1p34.3		 not provided

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21304 AgrOrtholog
COSMIC ADPRS COSMIC
Ensembl Genes ENSG00000116863 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362273 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373178 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.4080.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116863 GTEx
HGNC ID HGNC:21304 ENTREZGENE
Human Proteome Map ADPRS Human Proteome Map
InterPro Ribosyl_crysJ1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosyl_crysJ1_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:54936 UniProtKB/Swiss-Prot
NCBI Gene 54936 ENTREZGENE
OMIM 610624 OMIM
  618170 OMIM
Pfam ADP_ribosyl_GH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134903576 PharmGKB
Superfamily-SCOP SSF101478 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ARHL2_HUMAN UniProtKB/Swiss-Prot
  B7ZAN4 ENTREZGENE, UniProtKB/TrEMBL
  Q9NX46 ENTREZGENE
UniProt Secondary Q53G94 UniProtKB/Swiss-Prot
  Q6IAB8 UniProtKB/Swiss-Prot
  Q9BY47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-11-05 ADPRS  ADP-ribosylserine hydrolase  ADPRHL2  ADP-ribosylhydrolase like 2  Symbol and/or name change 5135510 APPROVED