PARP11 (poly(ADP-ribose) polymerase family member 11) - Rat Genome Database

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Gene: PARP11 (poly(ADP-ribose) polymerase family member 11) Homo sapiens
Analyze
Symbol: PARP11
Name: poly(ADP-ribose) polymerase family member 11
RGD ID: 1344916
HGNC Page HGNC:1186
Description: Enables NAD+ ADP-ribosyltransferase activity and NAD+-protein ADP-ribosyltransferase activity. Involved in protein auto-ADP-ribosylation. Located in cytosol; nuclear body; and nuclear envelope.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ADP-ribosyltransferase diphtheria toxin-like 11; ARTD11; C12orf6; DKFZp779H0122; MIB006; PARP-11; poly (ADP-ribose) polymerase family, member 11; poly [ADP-ribose] polymerase 11
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
GRCh38123,808,861 - 3,873,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl123,791,047 - 3,873,448 (-)EnsemblGRCh38hg38GRCh38
GRCh37123,918,027 - 3,982,565 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36123,788,288 - 3,852,863 (-)NCBINCBI36Build 36hg18NCBI36
Build 34123,791,397 - 3,852,801NCBI
Celera125,540,003 - 5,604,577 (-)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef123,774,077 - 3,838,651 (-)NCBIHuRef
CHM1_1123,917,467 - 3,982,056 (-)NCBICHM1_1
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA)
nuclear body  (IDA)
nuclear envelope  (IDA)
nuclear pore  (IEA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Structures and Mechanisms of Enzymes Employed in the Synthesis and Degradation of PARP-Dependent Protein ADP-Ribosylation. Barkauskaite E, etal., Mol Cell. 2015 Jun 18;58(6):935-46. doi: 10.1016/j.molcel.2015.05.007.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:14702039   PMID:15273990   PMID:15489334   PMID:16189514   PMID:16541075   PMID:17207965   PMID:17353931   PMID:19060904   PMID:19615732   PMID:20125193  
PMID:20379614   PMID:21873635   PMID:23263487   PMID:24204828   PMID:25043379   PMID:25416956   PMID:25673562   PMID:26186194   PMID:28514442   PMID:30323974   PMID:32296183   PMID:32694731  
PMID:33961781  


Genomics

Comparative Map Data
PARP11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38123,808,861 - 3,873,399 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl123,791,047 - 3,873,448 (-)EnsemblGRCh38hg38GRCh38
GRCh37123,918,027 - 3,982,565 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36123,788,288 - 3,852,863 (-)NCBINCBI36Build 36hg18NCBI36
Build 34123,791,397 - 3,852,801NCBI
Celera125,540,003 - 5,604,577 (-)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef123,774,077 - 3,838,651 (-)NCBIHuRef
CHM1_1123,917,467 - 3,982,056 (-)NCBICHM1_1
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBIT2T-CHM13v2.0
Parp11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396127,423,803 - 127,491,200 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6127,423,803 - 127,471,224 (+)EnsemblGRCm39 Ensembl
GRCm386127,446,830 - 127,514,233 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6127,446,840 - 127,494,261 (+)EnsemblGRCm38mm10GRCm38
MGSCv376127,403,741 - 127,444,257 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366127,419,342 - 127,459,858 (+)NCBIMGSCv36mm8
Celera6129,128,692 - 129,169,408 (+)NCBICelera
Cytogenetic Map6F3NCBI
cM Map662.39NCBI
Parp11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84161,984,192 - 162,030,550 (+)NCBIGRCr8
mRatBN7.24160,298,040 - 160,344,369 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4160,304,905 - 160,341,946 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.04160,013,968 - 160,059,981 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4160,020,472 - 160,058,729 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04231,551,302 - 231,590,760 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44163,866,313 - 163,937,904 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera4149,016,105 - 149,058,242 (+)NCBICelera
Cytogenetic Map4q42NCBI
Parp11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554131,615,304 - 1,682,410 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554131,549,572 - 1,682,395 (-)NCBIChiLan1.0ChiLan1.0
PARP11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2109,361,911 - 9,423,559 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1129,328,236 - 9,420,322 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0123,928,474 - 3,992,713 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1123,854,338 - 3,916,318 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl123,857,256 - 3,879,242 (-)Ensemblpanpan1.1panPan2
PARP11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12740,982,462 - 41,029,264 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2740,943,824 - 41,026,800 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha275,652,608 - 5,699,370 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02741,340,525 - 41,387,051 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2741,299,505 - 41,387,050 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12741,277,910 - 41,324,618 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02741,252,812 - 41,299,595 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0275,014,976 - 5,061,763 (-)NCBIUU_Cfam_GSD_1.0
Parp11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945105,063,793 - 105,121,086 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366064,063,171 - 4,120,397 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366064,062,301 - 4,120,389 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PARP11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl566,443,494 - 66,483,626 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1566,443,483 - 66,483,630 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2568,750,914 - 68,791,224 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PARP11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1113,855,701 - 3,909,368 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl113,858,993 - 3,909,340 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660634,332,985 - 4,390,932 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Parp11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624860987,260 - 1,042,618 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624860987,266 - 1,042,559 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PARP11
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 copy number loss See cases [RCV000050637] Chr12:121255..3968447 [GRCh38]
Chr12:282465..4077613 [GRCh37]
Chr12:100682..3947874 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|See cases [RCV000053669] Chr12:1764264..4231744 [GRCh38]
Chr12:1873430..4340910 [GRCh37]
Chr12:1743691..4211171 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
NM_001286521.1(PARP11):c.102-1003A>T single nucleotide variant Lung cancer [RCV000111007] Chr12:3823160 [GRCh38]
Chr12:3932326 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.32(chr12:3617675-4492591)x3 copy number gain See cases [RCV000135678] Chr12:3617675..4492591 [GRCh38]
Chr12:3726841..4601757 [GRCh37]
Chr12:3597102..4472018 [NCBI36]
Chr12:12p13.32		 likely benign
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.32(chr12:3404282-3895416)x1 copy number loss See cases [RCV000138728] Chr12:3404282..3895416 [GRCh38]
Chr12:3513448..4004582 [GRCh37]
Chr12:3383709..3874843 [NCBI36]
Chr12:12p13.32		 likely benign
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 copy number loss See cases [RCV000138558] Chr12:80412..4420585 [GRCh38]
Chr12:282465..4529751 [GRCh37]
Chr12:59839..4400012 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1 copy number loss See cases [RCV000511740] Chr12:3256714..4980727 [GRCh37]
Chr12:12p13.33-13.32		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582) copy number loss Global developmental delay [RCV000626500] Chr12:3288857..4004582 [GRCh37]
Chr12:12p13.33-13.32		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1 copy number loss not provided [RCV000683471] Chr12:173786..4105910 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1 copy number loss not provided [RCV001259134] Chr12:191242..4683495 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.32(chr12:3619010-5221363) copy number loss Global developmental delay [RCV001352670] Chr12:3619010..5221363 [GRCh37]
Chr12:12p13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) copy number loss not specified [RCV002052963] Chr12:2790077..5325700 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.32(chr12:3761477-3926800)x1 copy number loss not provided [RCV002473586] Chr12:3761477..3926800 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.737G>A (p.Arg246His) single nucleotide variant Inborn genetic diseases [RCV002840423] Chr12:3812403 [GRCh38]
Chr12:3921569 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.595G>C (p.Glu199Gln) single nucleotide variant Inborn genetic diseases [RCV002865191] Chr12:3814142 [GRCh38]
Chr12:3923308 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.209A>G (p.Asn70Ser) single nucleotide variant Inborn genetic diseases [RCV002841357] Chr12:3828969 [GRCh38]
Chr12:3938135 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.379C>T (p.Pro127Ser) single nucleotide variant Inborn genetic diseases [RCV002998221] Chr12:3822123 [GRCh38]
Chr12:3931289 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.190G>A (p.Glu64Lys) single nucleotide variant Inborn genetic diseases [RCV002912070] Chr12:3828988 [GRCh38]
Chr12:3938154 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.413A>G (p.Tyr138Cys) single nucleotide variant Inborn genetic diseases [RCV002870590] Chr12:3822089 [GRCh38]
Chr12:3931255 [GRCh37]
Chr12:12p13.32		 uncertain significance
NM_020367.6(PARP11):c.236C>A (p.Thr79Asn) single nucleotide variant Inborn genetic diseases [RCV002641035] Chr12:3828942 [GRCh38]
Chr12:3938108 [GRCh37]
Chr12:12p13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_020367.6(PARP11):c.689T>C (p.Val230Ala) single nucleotide variant Inborn genetic diseases [RCV003356029] Chr12:3814048 [GRCh38]
Chr12:3923214 [GRCh37]
Chr12:12p13.32		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1 copy number loss not specified [RCV003986988] Chr12:2246103..5406692 [GRCh37]
Chr12:12p13.33-13.31		 likely pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 copy number loss See cases [RCV000140991] Chr12:54427..4004912 [GRCh38]
Chr12:282465..4114078 [GRCh37]
Chr12:33854..3984339 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 copy number loss See cases [RCV000239873] Chr12:222888..3931052 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
NM_020367.6(PARP11):c.434A>G (p.Asn145Ser) single nucleotide variant Inborn genetic diseases [RCV003247648] Chr12:3821987 [GRCh38]
Chr12:3931153 [GRCh37]
Chr12:12p13.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6170
Count of miRNA genes:1095
Interacting mature miRNAs:1322
Transcripts:ENST00000228820, ENST00000397096, ENST00000416739, ENST00000427057, ENST00000447133, ENST00000450737, ENST00000453942, ENST00000458162, ENST00000476985
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.

Markers in Region
WI-12349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,951,160 - 3,951,310UniSTSGRCh37
GRCh374146,058,957 - 146,059,105UniSTSGRCh37
Build 364146,278,407 - 146,278,555RGDNCBI36
Celera4143,386,300 - 143,386,448RGD
Celera125,573,129 - 5,573,279UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map12p13.32UniSTS
HuRef4141,790,286 - 141,790,434UniSTS
HuRef123,807,203 - 3,807,353UniSTS
GeneMap99-GB4 RH Map120.0UniSTS
Whitehead-RH Map1256.6UniSTS
NCBI RH Map1262.4UniSTS
RH94352  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,918,200 - 3,918,326UniSTSGRCh37
Build 36123,788,461 - 3,788,587RGDNCBI36
Celera125,540,176 - 5,540,302RGD
Cytogenetic Map12p13.3UniSTS
HuRef123,774,250 - 3,774,376UniSTS
GeneMap99-GB4 RH Map1226.96UniSTS
G62285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,973,796 - 3,973,897UniSTSGRCh37
Build 36123,844,057 - 3,844,158RGDNCBI36
Celera125,595,765 - 5,595,866RGD
Cytogenetic Map12p13.3UniSTS
HuRef123,829,839 - 3,829,940UniSTS
G41797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,923,808 - 3,923,938UniSTSGRCh37
Build 36123,794,069 - 3,794,199RGDNCBI36
Celera125,545,777 - 5,545,907RGD
Cytogenetic Map12p13.3UniSTS
HuRef123,779,851 - 3,779,981UniSTS
HSHIN1_9812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,950,605 - 3,951,419UniSTSGRCh37
GRCh374146,058,848 - 146,059,660UniSTSGRCh37
Build 364146,278,298 - 146,279,110RGDNCBI36
Celera4143,386,191 - 143,387,003RGD
Celera125,572,574 - 5,573,388UniSTS
HuRef123,806,648 - 3,807,462UniSTS
HuRef4141,790,177 - 141,790,989UniSTS
G41237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,922,699 - 3,922,856UniSTSGRCh37
Build 36123,792,960 - 3,793,117RGDNCBI36
Celera125,544,668 - 5,544,825RGD
Cytogenetic Map12p13.3UniSTS
HuRef123,778,742 - 3,778,899UniSTS
G41252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,931,286 - 3,931,464UniSTSGRCh37
Build 36123,801,547 - 3,801,725RGDNCBI36
Celera125,553,255 - 5,553,433RGD
Cytogenetic Map12p13.3UniSTS
HuRef123,787,329 - 3,787,507UniSTS
SHGC-50260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,954,266 - 3,954,453UniSTSGRCh37
GRCh374146,055,804 - 146,055,987UniSTSGRCh37
Build 364146,275,254 - 146,275,437RGDNCBI36
Celera125,576,235 - 5,576,422UniSTS
Celera4143,383,145 - 143,383,328RGD
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map12p13.3UniSTS
HuRef123,810,309 - 3,810,496UniSTS
HuRef4141,787,124 - 141,787,307UniSTS
TNG Radiation Hybrid Map121929.0UniSTS
G41236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37123,930,763 - 3,930,907UniSTSGRCh37
Build 36123,801,024 - 3,801,168RGDNCBI36
Celera125,552,732 - 5,552,876RGD
Cytogenetic Map12p13.3UniSTS
HuRef123,786,806 - 3,786,950UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 16 1 36 3 412 3 87 23 55 30 203 64
Low 2411 2815 1683 615 1441 455 4237 2070 3623 384 1243 1515 174 1 1203 2762 6 2
Below cutoff 10 175 6 5 98 5 31 104 56 5 10 22 1 26

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001286521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF263540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX953946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000228820   ⟹   ENSP00000228820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,808,861 - 3,873,399 (-)Ensembl
RefSeq Acc Id: ENST00000416739   ⟹   ENSP00000392392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,791,047 - 3,873,436 (-)Ensembl
RefSeq Acc Id: ENST00000427057   ⟹   ENSP00000397058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,808,861 - 3,873,355 (-)Ensembl
RefSeq Acc Id: ENST00000447133   ⟹   ENSP00000405385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,808,861 - 3,873,448 (-)Ensembl
RefSeq Acc Id: ENST00000450737   ⟹   ENSP00000387481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,828,974 - 3,873,442 (-)Ensembl
RefSeq Acc Id: ENST00000453942   ⟹   ENSP00000395062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,812,123 - 3,873,350 (-)Ensembl
RefSeq Acc Id: ENST00000458162   ⟹   ENSP00000399665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,808,861 - 3,873,370 (-)Ensembl
RefSeq Acc Id: ENST00000476985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl123,811,737 - 3,821,974 (-)Ensembl
RefSeq Acc Id: NM_001286521   ⟹   NP_001273450
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,808,861 - 3,873,399 (-)NCBI
HuRef123,774,077 - 3,838,657 (-)NCBI
CHM1_1123,917,467 - 3,982,062 (-)NCBI
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286522   ⟹   NP_001273451
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,808,861 - 3,873,399 (-)NCBI
HuRef123,774,077 - 3,838,657 (-)NCBI
CHM1_1123,917,467 - 3,982,062 (-)NCBI
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020367   ⟹   NP_065100
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,808,861 - 3,873,399 (-)NCBI
GRCh37123,907,410 - 3,982,608 (-)NCBI
Build 36123,788,288 - 3,852,863 (-)NCBI Archive
Celera125,540,003 - 5,604,577 (-)RGD
HuRef123,774,077 - 3,838,657 (-)NCBI
CHM1_1123,917,467 - 3,982,062 (-)NCBI
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104461
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,808,861 - 3,873,399 (-)NCBI
HuRef123,774,077 - 3,838,657 (-)NCBI
CHM1_1123,917,467 - 3,982,062 (-)NCBI
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047429175   ⟹   XP_047285131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,808,861 - 3,873,399 (-)NCBI
RefSeq Acc Id: XM_047429176   ⟹   XP_047285132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,814,229 - 3,873,399 (-)NCBI
RefSeq Acc Id: XM_054372605   ⟹   XP_054228580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0123,815,532 - 3,880,061 (-)NCBI
RefSeq Acc Id: XM_054372606   ⟹   XP_054228581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0123,820,846 - 3,880,061 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_065100   ⟸   NM_020367
- Peptide Label: isoform a
- UniProtKB: Q68DS1 (UniProtKB/Swiss-Prot),   F8WBZ7 (UniProtKB/Swiss-Prot),   B4DRQ0 (UniProtKB/Swiss-Prot),   Q8N5Y9 (UniProtKB/Swiss-Prot),   Q9NR21 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273450   ⟸   NM_001286521
- Peptide Label: isoform b
- UniProtKB: Q9NR21 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001273451   ⟸   NM_001286522
- Peptide Label: isoform b
- UniProtKB: Q9NR21 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000228820   ⟸   ENST00000228820
RefSeq Acc Id: ENSP00000387481   ⟸   ENST00000450737
RefSeq Acc Id: ENSP00000397058   ⟸   ENST00000427057
RefSeq Acc Id: ENSP00000395062   ⟸   ENST00000453942
RefSeq Acc Id: ENSP00000392392   ⟸   ENST00000416739
RefSeq Acc Id: ENSP00000399665   ⟸   ENST00000458162
RefSeq Acc Id: ENSP00000405385   ⟸   ENST00000447133
RefSeq Acc Id: XP_047285131   ⟸   XM_047429175
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047285132   ⟸   XM_047429176
- Peptide Label: isoform X2
- UniProtKB: G3V0I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054228580   ⟸   XM_054372605
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228581   ⟸   XM_054372606
- Peptide Label: isoform X2
- UniProtKB: G3V0I3 (UniProtKB/TrEMBL)
Protein Domains
PARP catalytic   WWE

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR21-F1-model_v2 AlphaFold Q9NR21 1-338 view protein structure

Promoters
RGD ID:6789931
Promoter ID:HG_KWN:14773
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000397096,   NM_020367,   OTTHUMT00000344214,   OTTHUMT00000344216,   UC001QMM.1,   UC001QMN.1,   UC009ZEF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36123,852,426 - 3,852,987 (-)MPROMDB
RGD ID:7222791
Promoter ID:EPDNEW_H17141
Type:initiation region
Name:PARP11_2
Description:poly(ADP-ribose) polymerase family member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17142  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,873,115 - 3,873,175EPDNEW
RGD ID:7222793
Promoter ID:EPDNEW_H17142
Type:initiation region
Name:PARP11_1
Description:poly(ADP-ribose) polymerase family member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17141  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38123,873,398 - 3,873,458EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1186 AgrOrtholog
COSMIC PARP11 COSMIC
Ensembl Genes ENSG00000111224 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000228820 ENTREZGENE
  ENST00000228820.9 UniProtKB/Swiss-Prot
  ENST00000416739 ENTREZGENE
  ENST00000416739.5 UniProtKB/Swiss-Prot
  ENST00000427057 ENTREZGENE
  ENST00000427057.6 UniProtKB/Swiss-Prot
  ENST00000447133 ENTREZGENE
  ENST00000447133.7 UniProtKB/Swiss-Prot
  ENST00000450737.2 UniProtKB/TrEMBL
  ENST00000453942 ENTREZGENE
  ENST00000453942.2 UniProtKB/TrEMBL
  ENST00000458162 ENTREZGENE
  ENST00000458162.6 UniProtKB/TrEMBL
Gene3D-CATH 3.30.720.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.228.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111224 GTEx
HGNC ID HGNC:1186 ENTREZGENE
Human Proteome Map PARP11 Human Proteome Map
InterPro Poly(ADP-ribose)pol_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WWE-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WWE_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57097 UniProtKB/Swiss-Prot
NCBI Gene 57097 ENTREZGENE
OMIM 616706 OMIM
PANTHER POLY [ADP-RIBOSE] POLYMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN MONO-ADP-RIBOSYLTRANSFERASE PARP11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PARP UniProtKB/Swiss-Prot
  WWE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25507 PharmGKB
PROSITE PARP_CATALYTIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WWE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP ADP-ribosylation UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF117839 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DRQ0 ENTREZGENE
  F5H8L8_HUMAN UniProtKB/TrEMBL
  F8WBZ7 ENTREZGENE
  F8WFA3_HUMAN UniProtKB/TrEMBL
  G3V0I3 ENTREZGENE, UniProtKB/TrEMBL
  PAR11_HUMAN UniProtKB/Swiss-Prot
  Q68DS1 ENTREZGENE
  Q8N5Y9 ENTREZGENE
  Q9NR21 ENTREZGENE
UniProt Secondary B4DRQ0 UniProtKB/Swiss-Prot
  F8WBZ7 UniProtKB/Swiss-Prot
  Q68DS1 UniProtKB/Swiss-Prot
  Q8N5Y9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PARP11  poly(ADP-ribose) polymerase family member 11    poly (ADP-ribose) polymerase family, member 11  Symbol and/or name change 5135510 APPROVED