PARP10 (poly(ADP-ribose) polymerase family member 10) - Rat Genome Database

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Gene: PARP10 (poly(ADP-ribose) polymerase family member 10) Homo sapiens
Analyze
Symbol: PARP10
Name: poly(ADP-ribose) polymerase family member 10
RGD ID: 1348193
HGNC Page HGNC
Description: Exhibits K63-linked polyubiquitin modification-dependent protein binding activity; NAD+ ADP-ribosyltransferase activity; and protein ADP-ribosylase activity. Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; negative regulation of macromolecule metabolic process; and protein ADP-ribosylation. Localizes to Golgi apparatus; cytosol; and nucleolus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ADP-ribosyltransferase diphtheria toxin-like 10; ARTD10; FLJ14464; PARP-10; poly (ADP-ribose) polymerase family, member 10; poly [ADP-ribose] polymerase 10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Pig
Green Monkey
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 Ensembl8143,977,153 - 144,012,772 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,977,158 - 143,986,460 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,051,326 - 145,060,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,123,308 - 145,132,623 (-)NCBINCBI36hg18NCBI36
Build 348145,123,315 - 145,132,583NCBI
Celera8141,366,147 - 141,374,558 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,305,644 - 140,317,215 (-)NCBIHuRef
CHM1_18145,091,438 - 145,100,745 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15273990   PMID:15489334   PMID:15674325   PMID:16344560   PMID:16455663   PMID:18029348   PMID:18851833   PMID:21873635   PMID:22176891  
PMID:22992334   PMID:23473667   PMID:23481255   PMID:23575687   PMID:24695737   PMID:24878761   PMID:25043379   PMID:25231870   PMID:26496610   PMID:28611215   PMID:29293500   PMID:29515234  
PMID:30032250   PMID:32060423   PMID:32392194  


Genomics

Comparative Map Data
PARP10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,977,153 - 144,012,772 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,977,158 - 143,986,460 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,051,326 - 145,060,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,123,308 - 145,132,623 (-)NCBINCBI36hg18NCBI36
Build 348145,123,315 - 145,132,583NCBI
Celera8141,366,147 - 141,374,558 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,305,644 - 140,317,215 (-)NCBIHuRef
CHM1_18145,091,438 - 145,100,745 (-)NCBICHM1_1
Parp10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,117,195 - 76,127,640 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,115,374 - 76,127,641 (-)Ensembl
GRCm381576,232,995 - 76,243,440 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,231,174 - 76,243,441 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,063,425 - 76,073,870 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,063,090 - 76,073,873 (-)NCBImm8
Celera1577,732,942 - 77,743,388 (-)NCBICelera
Cytogenetic Map15D3NCBI
Parp10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,949,031 - 107,958,377 (-)NCBI
Rnor_6.0 Ensembl7117,291,877 - 117,300,662 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07117,291,592 - 117,300,878 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,277,285 - 117,286,563 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera7104,301,488 - 104,310,774 (-)NCBICelera
Cytogenetic Map7q34NCBI
Parp10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,645,003 - 2,651,604 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,644,718 - 2,651,962 (-)NCBIChiLan1.0ChiLan1.0
PARP10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,735,487 - 143,744,050 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,735,819 - 143,744,138 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,743,061 - 140,744,014 (-)NCBIMhudiblu_PPA_v0panPan3
PARP10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.14688,511 - 695,808 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24790,224 - 797,113 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PARP10
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,187,635 - 138,195,541 (-)NCBI
ChlSab1.1 Ensembl8138,187,562 - 138,195,504 (-)Ensembl

Position Markers
SHGC-153430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,061,294 - 145,061,640UniSTSGRCh37
Build 368145,133,282 - 145,133,628RGDNCBI36
Celera8141,375,489 - 141,375,835RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,317,874 - 140,318,220UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR132hsa-miR-132-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:9023
Count of miRNA genes:1024
Interacting mature miRNAs:1311
Transcripts:ENST00000313028, ENST00000313059, ENST00000524918, ENST00000525486, ENST00000525773, ENST00000525879, ENST00000526007, ENST00000526985, ENST00000527262, ENST00000528136, ENST00000528580, ENST00000528625, ENST00000528914, ENST00000528963, ENST00000529311, ENST00000529842, ENST00000530478, ENST00000531537, ENST00000531707, ENST00000532311, ENST00000532660, ENST00000533665, ENST00000534737
Prediction methods:Microtar, 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 2366 2165 1665 574 1849 415 3481 1127 1632 380 1399 1500 169 1197 2121 2 1
Low 72 826 61 50 97 50 876 1067 2098 39 58 106 6 1 7 667 4 1
Below cutoff 1 1 3 3 1 7

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001317895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC109322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI470346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU625932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA124793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA459446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC346447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313028   ⟹   ENSP00000325618
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,977,158 - 143,986,460 (-)Ensembl
RefSeq Acc Id: ENST00000313059   ⟹   ENSP00000314320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,984,728 - 143,986,430 (-)Ensembl
RefSeq Acc Id: ENST00000524918   ⟹   ENSP00000431620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,977,153 - 143,986,446 (-)Ensembl
RefSeq Acc Id: ENST00000525486   ⟹   ENSP00000435793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,718 - 143,987,181 (-)Ensembl
RefSeq Acc Id: ENST00000525773   ⟹   ENSP00000434776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,977,383 - 143,986,460 (-)Ensembl
RefSeq Acc Id: ENST00000525879   ⟹   ENSP00000436301
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,550 - 143,990,933 (-)Ensembl
RefSeq Acc Id: ENST00000526007
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,977,153 - 143,984,358 (-)Ensembl
RefSeq Acc Id: ENST00000526985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,492 - 143,986,141 (-)Ensembl
RefSeq Acc Id: ENST00000527262   ⟹   ENSP00000432733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,977,453 - 143,986,422 (-)Ensembl
RefSeq Acc Id: ENST00000528136   ⟹   ENSP00000431250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,771 - 143,991,039 (-)Ensembl
RefSeq Acc Id: ENST00000528580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,849 - 143,986,460 (-)Ensembl
RefSeq Acc Id: ENST00000528625   ⟹   ENSP00000431818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,569 - 143,990,269 (-)Ensembl
RefSeq Acc Id: ENST00000528914   ⟹   ENSP00000434005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,750 - 143,991,135 (-)Ensembl
RefSeq Acc Id: ENST00000528963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,983,842 - 143,984,639 (-)Ensembl
RefSeq Acc Id: ENST00000529311   ⟹   ENSP00000434411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,837 - 143,988,965 (-)Ensembl
RefSeq Acc Id: ENST00000529842   ⟹   ENSP00000436697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,725 - 143,987,099 (-)Ensembl
RefSeq Acc Id: ENST00000530478   ⟹   ENSP00000436333
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,891 - 144,012,772 (-)Ensembl
RefSeq Acc Id: ENST00000531537   ⟹   ENSP00000432204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,724 - 143,987,144 (-)Ensembl
RefSeq Acc Id: ENST00000531707   ⟹   ENSP00000433990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,914 - 143,986,932 (-)Ensembl
RefSeq Acc Id: ENST00000532311   ⟹   ENSP00000435161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,985,908 - 143,991,188 (-)Ensembl
RefSeq Acc Id: ENST00000532660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,986,363 - 143,989,985 (-)Ensembl
RefSeq Acc Id: ENST00000533665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,984,983 - 143,986,454 (-)Ensembl
RefSeq Acc Id: ENST00000534737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,986,357 - 143,989,987 (-)Ensembl
RefSeq Acc Id: NM_001317895   ⟹   NP_001304824
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,977,158 - 143,986,460 (-)NCBI
CHM1_18145,091,438 - 145,100,745 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032789   ⟹   NP_116178
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,977,158 - 143,986,460 (-)NCBI
GRCh378145,051,320 - 145,060,635 (-)RGD
Build 368145,123,308 - 145,132,623 (-)NCBI Archive
Celera8141,366,147 - 141,374,558 (-)RGD
HuRef8140,305,644 - 140,317,215 (-)ENTREZGENE
CHM1_18145,091,438 - 145,100,745 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134234
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,977,158 - 143,986,460 (-)NCBI
CHM1_18145,091,438 - 145,100,745 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517336   ⟹   XP_011515638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,977,158 - 143,986,431 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_116178   ⟸   NM_032789
- Peptide Label: isoform 1
- UniProtKB: Q53GL7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515638   ⟸   XM_011517336
- Peptide Label: isoform X1
- UniProtKB: E9PK67 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001304824   ⟸   NM_001317895
- Peptide Label: isoform 2
- UniProtKB: B4E0C4 (UniProtKB/TrEMBL),   E9PNI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000436333   ⟸   ENST00000530478
RefSeq Acc Id: ENSP00000433990   ⟸   ENST00000531707
RefSeq Acc Id: ENSP00000432204   ⟸   ENST00000531537
RefSeq Acc Id: ENSP00000435161   ⟸   ENST00000532311
RefSeq Acc Id: ENSP00000325618   ⟸   ENST00000313028
RefSeq Acc Id: ENSP00000314320   ⟸   ENST00000313059
RefSeq Acc Id: ENSP00000431620   ⟸   ENST00000524918
RefSeq Acc Id: ENSP00000436301   ⟸   ENST00000525879
RefSeq Acc Id: ENSP00000434776   ⟸   ENST00000525773
RefSeq Acc Id: ENSP00000435793   ⟸   ENST00000525486
RefSeq Acc Id: ENSP00000432733   ⟸   ENST00000527262
RefSeq Acc Id: ENSP00000431250   ⟸   ENST00000528136
RefSeq Acc Id: ENSP00000431818   ⟸   ENST00000528625
RefSeq Acc Id: ENSP00000434005   ⟸   ENST00000528914
RefSeq Acc Id: ENSP00000436697   ⟸   ENST00000529842
RefSeq Acc Id: ENSP00000434411   ⟸   ENST00000529311
Protein Domains
PARP catalytic

Promoters
RGD ID:7214409
Promoter ID:EPDNEW_H12951
Type:initiation region
Name:PARP10_1
Description:poly(ADP-ribose) polymerase family member 10
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
GRCh388143,986,448 - 143,986,508EPDNEW
RGD ID:6806920
Promoter ID:HG_KWN:62301
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   Lymphoblastoid
Transcripts:ENST00000313059,   UC003ZAK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,130,711 - 145,132,417 (-)MPROMDB
RGD ID:6806915
Promoter ID:HG_KWN:62302
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032789,   UC003ZAM.2,   UC010MFN.1,   UC010MFO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,132,546 - 145,133,362 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 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(chr8:241530-145054634)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 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 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
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
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 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
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 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 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 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(chr8:144725942-145508436)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
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 8q24.3(chr8:144879444-145199846) copy number loss Verheij syndrome [RCV000767560] Chr8:144879444..145199846 [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
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
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
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(chr8:144811338-145058399)x3 copy number gain not provided [RCV000747975] Chr8:144811338..145058399 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144946763-145058037)x3 copy number gain not provided [RCV000747986] Chr8:144946763..145058037 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144947129-145058713)x3 copy number gain not provided [RCV000747987] Chr8:144947129..145058713 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144947319-145058037)x3 copy number gain not provided [RCV000747988] Chr8:144947319..145058037 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144948861-145057916)x3 copy number gain not provided [RCV000747990] Chr8:144948861..145057916 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144948861-145058260)x3 copy number gain not provided [RCV000747991] Chr8:144948861..145058260 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144990587-145052167)x3 copy number gain not provided [RCV000747995] Chr8:144990587..145052167 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144990587-145058554)x3 copy number gain not provided [RCV000747996] Chr8:144990587..145058554 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144991972-145058037)x3 copy number gain not provided [RCV000747997] Chr8:144991972..145058037 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144992269-145067467)x3 copy number gain not provided [RCV000748000] Chr8:144992269..145067467 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144993931-145052167)x3 copy number gain not provided [RCV000748001] Chr8:144993931..145052167 [GRCh37]
Chr8:8q24.3
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
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NM_032789.5(PARP10):c.589C>T (p.Arg197Cys) single nucleotide variant not provided [RCV000892701] Chr8:143985496 [GRCh38]
Chr8:145059664 [GRCh37]
Chr8:8q24.3
likely benign
NM_032789.5(PARP10):c.647_648del (p.Thr216fs) deletion Developmental delay [RCV000991392] Chr8:143985437..143985438 [GRCh38]
Chr8:145059605..145059606 [GRCh37]
Chr8:8q24.3
likely pathogenic
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
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
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
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 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 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
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
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_032789.5(PARP10):c.732C>T (p.Val244=) single nucleotide variant not provided [RCV000885662] Chr8:143985270 [GRCh38]
Chr8:145059438 [GRCh37]
Chr8:8q24.3
benign
NM_032789.5(PARP10):c.472G>A (p.Gly158Ser) single nucleotide variant not provided [RCV000912033] Chr8:143985613 [GRCh38]
Chr8:145059781 [GRCh37]
Chr8:8q24.3
likely benign
NM_032789.5(PARP10):c.2550C>T (p.Val850=) single nucleotide variant not provided [RCV000935094] Chr8:143982938 [GRCh38]
Chr8:145057106 [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(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25895 AgrOrtholog
COSMIC PARP10 COSMIC
Ensembl Genes ENSG00000178685 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000314320 UniProtKB/TrEMBL
  ENSP00000325618 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431250 UniProtKB/TrEMBL
  ENSP00000431620 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000431818 UniProtKB/TrEMBL
  ENSP00000432204 UniProtKB/TrEMBL
  ENSP00000432733 UniProtKB/TrEMBL
  ENSP00000433990 UniProtKB/TrEMBL
  ENSP00000434005 UniProtKB/TrEMBL
  ENSP00000434411 UniProtKB/TrEMBL
  ENSP00000434776 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000435161 UniProtKB/TrEMBL
  ENSP00000435793 UniProtKB/TrEMBL
  ENSP00000436301 UniProtKB/TrEMBL
  ENSP00000436333 UniProtKB/TrEMBL
  ENSP00000436697 UniProtKB/TrEMBL
Ensembl Transcript ENST00000313028 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000313059 UniProtKB/TrEMBL
  ENST00000524918 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000525486 UniProtKB/TrEMBL
  ENST00000525773 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000525879 UniProtKB/TrEMBL
  ENST00000527262 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000528136 UniProtKB/TrEMBL
  ENST00000528625 UniProtKB/TrEMBL
  ENST00000528914 UniProtKB/TrEMBL
  ENST00000529311 UniProtKB/TrEMBL
  ENST00000529842 UniProtKB/TrEMBL
  ENST00000530478 UniProtKB/TrEMBL
  ENST00000531537 UniProtKB/TrEMBL
  ENST00000531707 UniProtKB/TrEMBL
  ENST00000532311 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000178685 GTEx
HGNC ID HGNC:25895 ENTREZGENE
Human Proteome Map PARP10 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAR10_RRM1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Poly(ADP-ribose)pol_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/TrEMBL
KEGG Report hsa:84875 UniProtKB/Swiss-Prot
NCBI Gene 84875 ENTREZGENE
OMIM 609564 OMIM
Pfam PARP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134892853 PharmGKB
PROSITE PARP_CATALYTIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/TrEMBL
UniProt A2RUM0_HUMAN UniProtKB/TrEMBL
  B4E0C4 ENTREZGENE, UniProtKB/TrEMBL
  E9PIA6_HUMAN UniProtKB/TrEMBL
  E9PIK9_HUMAN UniProtKB/TrEMBL
  E9PJI2_HUMAN UniProtKB/TrEMBL
  E9PK67 ENTREZGENE, UniProtKB/TrEMBL
  E9PLE8_HUMAN UniProtKB/TrEMBL
  E9PM86_HUMAN UniProtKB/TrEMBL
  E9PNI7 ENTREZGENE, UniProtKB/TrEMBL
  E9PPE7_HUMAN UniProtKB/TrEMBL
  E9PPU2_HUMAN UniProtKB/TrEMBL
  E9PPV8_HUMAN UniProtKB/TrEMBL
  E9PQQ6_HUMAN UniProtKB/TrEMBL
  E9PSE7_HUMAN UniProtKB/TrEMBL
  E9PSG8_HUMAN UniProtKB/TrEMBL
  F8W8G7_HUMAN UniProtKB/TrEMBL
  PAR10_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q8N2I0 UniProtKB/Swiss-Prot
  Q8WV05 UniProtKB/Swiss-Prot
  Q96CH7 UniProtKB/Swiss-Prot
  Q96K72 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PARP10  poly(ADP-ribose) polymerase family member 10    poly (ADP-ribose) polymerase family, member 10  Symbol and/or name change 5135510 APPROVED
2011-09-01 PARP10  poly (ADP-ribose) polymerase family, member 10  PARP10  poly (ADP-ribose) polymerase family, member 10  Symbol and/or name change 5135510 APPROVED