Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
2. | ADP-ribosylarginine hydrolase regulates cell proliferation and tumorigenesis. | Kato J, etal., Cancer Res. 2011 Aug 1;71(15):5327-35. doi: 10.1158/0008-5472.CAN-10-0733. Epub 2011 Jun 22. |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
4. | Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. | Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363. |
PMID:8349667 | PMID:9193669 | PMID:12070318 | PMID:12477932 | PMID:15489334 | PMID:15546898 | PMID:17207965 | PMID:19407395 | PMID:21044950 | PMID:21873635 | PMID:23602568 | PMID:25416956 |
PMID:28514442 | PMID:30472116 | PMID:32296183 | PMID:33961781 |
ADPRH (Homo sapiens - human) |
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Adprh (Mus musculus - house mouse) |
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Adprh (Rattus norvegicus - Norway rat) |
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Adprh (Chinchilla lanigera - long-tailed chinchilla) |
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ADPRH (Pan paniscus - bonobo/pygmy chimpanzee) |
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ADPRH (Canis lupus familiaris - dog) |
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Adprh (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ADPRH (Sus scrofa - pig) |
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ADPRH (Chlorocebus sabaeus - green monkey) |
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Adprh (Heterocephalus glaber - naked mole-rat) |
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Variants in ADPRH
12 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 | copy number loss | See cases [RCV000051543] | Chr3:93886671..123216683 [GRCh38] Chr3:93605515..122935530 [GRCh37] Chr3:95088205..124418220 [NCBI36] Chr3:3q11.1-21.1 |
pathogenic |
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 | copy number loss | See cases [RCV000051546] | Chr3:119117166..125920734 [GRCh38] Chr3:118836013..125639577 [GRCh37] Chr3:120318703..127122267 [NCBI36] Chr3:3q13.32-21.2 |
pathogenic |
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 3q13.32-13.33(chr3:117844958-120797026)x4 | copy number gain | See cases [RCV000135591] | Chr3:117844958..120797026 [GRCh38] Chr3:117563805..120515873 [GRCh37] Chr3:119046495..121998563 [NCBI36] Chr3:3q13.32-13.33 |
uncertain significance |
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 | copy number loss | See cases [RCV000135961] | Chr3:115019074..122513398 [GRCh38] Chr3:114737921..122232245 [GRCh37] Chr3:116220611..123714935 [NCBI36] Chr3:3q13.31-21.1 |
pathogenic |
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 | copy number loss | See cases [RCV000139033] | Chr3:112620977..128734134 [GRCh38] Chr3:112339824..128452977 [GRCh37] Chr3:113822514..129935667 [NCBI36] Chr3:3q13.2-21.3 |
pathogenic |
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 | copy number loss | See cases [RCV000142009] | Chr3:114122562..124532374 [GRCh38] Chr3:113841409..124251221 [GRCh37] Chr3:115324099..125733911 [NCBI36] Chr3:3q13.31-21.2 |
pathogenic |
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 | copy number gain | See cases [RCV000142340] | Chr3:93800620..145695381 [GRCh38] Chr3:93519464..145413168 [GRCh37] Chr3:95002154..146895858 [NCBI36] Chr3:3q11.1-24 |
pathogenic |
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 | copy number gain | See cases [RCV000142877] | Chr3:117844958..120826621 [GRCh38] Chr3:117563805..120545468 [GRCh37] Chr3:119046495..122028158 [NCBI36] Chr3:3q13.32-13.33 |
uncertain significance |
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 | copy number loss | See cases [RCV000142725] | Chr3:112520553..120031022 [GRCh38] Chr3:112239400..119749869 [GRCh37] Chr3:113722090..121232559 [NCBI36] Chr3:3q13.2-13.33 |
pathogenic |
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 | copy number loss | See cases [RCV000143695] | Chr3:118673898..126540730 [GRCh38] Chr3:118392745..126259573 [GRCh37] Chr3:119875435..127742263 [NCBI36] Chr3:3q13.32-21.3 |
pathogenic |
GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3 | copy number gain | See cases [RCV000240551] | Chr3:119188677..119500810 [GRCh37] Chr3:3q13.33 |
uncertain significance |
GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3 | copy number gain | See cases [RCV000445965] | Chr3:119188677..119500751 [GRCh37] Chr3:3q13.33 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 | copy number gain | See cases [RCV000511055] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) | copy number gain | See cases [RCV000512358] | Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 | copy number loss | not provided [RCV000682298] | Chr3:115518341..122129283 [GRCh37] Chr3:3q13.31-21.1 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 | copy number gain | not provided [RCV000742133] | Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 | copy number gain | not provided [RCV000742138] | Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 | copy number gain | not provided [RCV002472621] | Chr3:116620308..172042292 [GRCh37] Chr3:3q13.31-26.31 |
pathogenic |
GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1 | copy number loss | not provided [RCV002473909] | Chr3:116109191..120328013 [GRCh37] Chr3:3q13.31-13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.22A>T (p.Met8Leu) | single nucleotide variant | Inborn genetic diseases [RCV002751794] | Chr3:119582191 [GRCh38] Chr3:119301038 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.242A>G (p.Tyr81Cys) | single nucleotide variant | Inborn genetic diseases [RCV002970328] | Chr3:119582411 [GRCh38] Chr3:119301258 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.790T>C (p.Ser264Pro) | single nucleotide variant | Inborn genetic diseases [RCV002901690] | Chr3:119587594 [GRCh38] Chr3:119306441 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.418C>T (p.Leu140Phe) | single nucleotide variant | Inborn genetic diseases [RCV002860068] | Chr3:119586404 [GRCh38] Chr3:119305251 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.706A>G (p.Ile236Val) | single nucleotide variant | Inborn genetic diseases [RCV002759829] | Chr3:119587510 [GRCh38] Chr3:119306357 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.239A>G (p.Tyr80Cys) | single nucleotide variant | Inborn genetic diseases [RCV002708906] | Chr3:119582408 [GRCh38] Chr3:119301255 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.479G>A (p.Arg160Gln) | single nucleotide variant | Inborn genetic diseases [RCV002645142] | Chr3:119586465 [GRCh38] Chr3:119305312 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.831T>G (p.Ile277Met) | single nucleotide variant | Inborn genetic diseases [RCV003184842] | Chr3:119587635 [GRCh38] Chr3:119306482 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.490C>G (p.His164Asp) | single nucleotide variant | Inborn genetic diseases [RCV003218807] | Chr3:119586476 [GRCh38] Chr3:119305323 [GRCh37] Chr3:3q13.33 |
uncertain significance |
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 | copy number loss | Chromosome 3q13.31 deletion syndrome [RCV003327614] | Chr3:93979547..124774010 [GRCh38] Chr3:3q11.1-21.2 |
pathogenic |
NM_001125.4(ADPRH):c.415G>C (p.Gly139Arg) | single nucleotide variant | Inborn genetic diseases [RCV003358705] | Chr3:119586401 [GRCh38] Chr3:119305248 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.191C>T (p.Ala64Val) | single nucleotide variant | Inborn genetic diseases [RCV003352230] | Chr3:119582360 [GRCh38] Chr3:119301207 [GRCh37] Chr3:3q13.33 |
uncertain significance |
NM_001125.4(ADPRH):c.844G>A (p.Val282Ile) | single nucleotide variant | Inborn genetic diseases [RCV003362137] | Chr3:119587648 [GRCh38] Chr3:119306495 [GRCh37] Chr3:3q13.33 |
likely benign |
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. |
RH12819 |
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ADPRH_8162 |
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STS-L13291 |
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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 | 463 | 706 | 359 | 15 | 841 | 4 | 1281 | 417 | 291 | 93 | 224 | 873 | 13 | 887 | 654 | 1 | ||
Low | 1927 | 2261 | 1310 | 560 | 1027 | 410 | 3062 | 1748 | 3263 | 315 | 1209 | 667 | 158 | 1 | 317 | 2133 | 2 | 1 |
Below cutoff | 30 | 23 | 52 | 47 | 52 | 50 | 9 | 19 | 156 | 8 | 12 | 48 | 3 | 1 | 1 |
RefSeq Acc Id: | ENST00000357003 ⟹ ENSP00000349496 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000465513 ⟹ ENSP00000417430 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000471850 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000478399 ⟹ ENSP00000420200 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000478927 ⟹ ENSP00000417528 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000481816 ⟹ ENSP00000419703 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000485496 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001125 ⟹ NP_001116 | ||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001291949 ⟹ NP_001278878 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001291950 ⟹ NP_001278879 | ||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001371092 ⟹ NP_001358021 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001391992 ⟹ NP_001378921 | ||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_047447476 ⟹ XP_047303432 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_054345307 ⟹ XP_054201282 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_001116 ⟸ NM_001125 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B2R8H1 (UniProtKB/Swiss-Prot), D3DN83 (UniProtKB/Swiss-Prot), P54922 (UniProtKB/Swiss-Prot), A8K6X2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001278878 ⟸ NM_001291949 |
- Peptide Label: | isoform 1 |
- UniProtKB: | B2R8H1 (UniProtKB/Swiss-Prot), D3DN83 (UniProtKB/Swiss-Prot), P54922 (UniProtKB/Swiss-Prot), A8K6X2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001278879 ⟸ NM_001291950 |
- Peptide Label: | isoform 2 |
- UniProtKB: | P54922 (UniProtKB/Swiss-Prot), B4E341 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001358021 ⟸ NM_001371092 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P54922 (UniProtKB/Swiss-Prot), B2R8H1 (UniProtKB/Swiss-Prot), D3DN83 (UniProtKB/Swiss-Prot), A8K6X2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSP00000420200 ⟸ ENST00000478399 |
RefSeq Acc Id: | ENSP00000417528 ⟸ ENST00000478927 |
RefSeq Acc Id: | ENSP00000417430 ⟸ ENST00000465513 |
RefSeq Acc Id: | ENSP00000419703 ⟸ ENST00000481816 |
RefSeq Acc Id: | ENSP00000349496 ⟸ ENST00000357003 |
RefSeq Acc Id: | NP_001378921 ⟸ NM_001391992 |
- Peptide Label: | isoform 1 |
- UniProtKB: | P54922 (UniProtKB/Swiss-Prot), B2R8H1 (UniProtKB/Swiss-Prot), D3DN83 (UniProtKB/Swiss-Prot), A8K6X2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_047303432 ⟸ XM_047447476 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P54922 (UniProtKB/Swiss-Prot), B2R8H1 (UniProtKB/Swiss-Prot), D3DN83 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_054201282 ⟸ XM_054345307 |
- Peptide Label: | isoform X1 |
- UniProtKB: | P54922 (UniProtKB/Swiss-Prot), B2R8H1 (UniProtKB/Swiss-Prot), D3DN83 (UniProtKB/Swiss-Prot) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P54922-F1-model_v2 | AlphaFold | P54922 | 1-357 | view protein structure |
RGD ID: | 6865350 | ||||||||
Promoter ID: | EPDNEW_H5840 | ||||||||
Type: | initiation region | ||||||||
Name: | ADPRH_1 | ||||||||
Description: | ADP-ribosylarginine hydrolase | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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RGD ID: | 6800580 | ||||||||
Promoter ID: | HG_KWN:45920 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, K562, Lymphoblastoid | ||||||||
Transcripts: | NM_001125, UC010HQV.1 | ||||||||
Position: |
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RGD ID: | 6800582 | ||||||||
Promoter ID: | HG_KWN:45921 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | K562, Lymphoblastoid | ||||||||
Transcripts: | UC003ECT.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:269 | AgrOrtholog |
COSMIC | ADPRH | COSMIC |
Ensembl Genes | ENSG00000144843 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000357003 | ENTREZGENE |
ENST00000357003.8 | UniProtKB/Swiss-Prot | |
ENST00000465513.1 | UniProtKB/Swiss-Prot | |
ENST00000478399 | ENTREZGENE | |
ENST00000478399.5 | UniProtKB/Swiss-Prot | |
ENST00000478927 | ENTREZGENE | |
ENST00000478927.5 | UniProtKB/Swiss-Prot | |
ENST00000481816.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.4080.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTEx | ENSG00000144843 | GTEx |
HGNC ID | HGNC:269 | ENTREZGENE |
Human Proteome Map | ADPRH | Human Proteome Map |
InterPro | ADP-ribosylarg_hydro | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ribosyl_crysJ1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ribosyl_crysJ1_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | hsa:141 | UniProtKB/Swiss-Prot |
NCBI Gene | 141 | ENTREZGENE |
OMIM | 603081 | OMIM |
PANTHER | [PROTEIN ADP-RIBOSYLARGININE] HYDROLASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ADP-RIBOSYLGLYCOHYDROLASE | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ADP_ribosyl_GH | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA24590 | PharmGKB |
PIRSF | ADP_ribslarg_hdr | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF101478 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A8K6X2 | ENTREZGENE, UniProtKB/TrEMBL |
ADPRH_HUMAN | UniProtKB/Swiss-Prot | |
B2R8H1 | ENTREZGENE | |
B4E341 | ENTREZGENE, UniProtKB/TrEMBL | |
C9JZW7_HUMAN | UniProtKB/TrEMBL | |
D3DN83 | ENTREZGENE | |
P54922 | ENTREZGENE | |
UniProt Secondary | B2R8H1 | UniProtKB/Swiss-Prot |
D3DN83 | UniProtKB/Swiss-Prot |