PNLDC1 (PARN like ribonuclease domain containing exonuclease 1) - Rat Genome Database

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Gene: PNLDC1 (PARN like ribonuclease domain containing exonuclease 1) Homo sapiens
Analyze
Symbol: PNLDC1
Name: PARN like ribonuclease domain containing exonuclease 1
RGD ID: 1318591
HGNC Page HGNC:21185
Description: Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening; piRNA processing; and spermatogenesis. Located in endoplasmic reticulum. Implicated in spermatogenic failure 57.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: dJ195P10.2; FLJ40240; HsPNLDC1; MGC138451; PARN like, ribonuclease domain containing 1; PARN-like domain-containing protein 1; poly(A)-specific ribonuclease (PARN)-like domain containing 1; poly(A)-specific ribonuclease domain-containing protein 1; poly(A)-specific ribonuclease PARN-like domain-containing protein 1; poly(A)-specific ribonuclease PNLDC1; SPGF57; Trimmer
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386159,799,455 - 159,820,704 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6159,800,249 - 159,820,704 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh376160,221,308 - 160,241,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,141,291 - 160,161,725 (+)NCBIBuild 36Build 36hg18NCBI36
Build 346160,191,711 - 160,212,146NCBI
Celera6160,867,378 - 160,887,807 (+)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6157,691,517 - 157,712,066 (+)NCBIHuRef
CHM1_16160,483,575 - 160,503,997 (+)NCBICHM1_1
T2T-CHM13v2.06161,045,047 - 161,066,381 (+)NCBIT2T-CHM13v2.0
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. 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:19724895   PMID:19851296   PMID:20198315   PMID:21873635   PMID:27260655   PMID:27515512   PMID:28514442   PMID:29444933   PMID:32807901  
PMID:33961781   PMID:34347949   PMID:35361267   PMID:37282384  


Genomics

Comparative Map Data
PNLDC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386159,799,455 - 159,820,704 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6159,800,249 - 159,820,704 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh376160,221,308 - 160,241,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366160,141,291 - 160,161,725 (+)NCBIBuild 36Build 36hg18NCBI36
Build 346160,191,711 - 160,212,146NCBI
Celera6160,867,378 - 160,887,807 (+)NCBICelera
Cytogenetic Map6q25.3NCBI
HuRef6157,691,517 - 157,712,066 (+)NCBIHuRef
CHM1_16160,483,575 - 160,503,997 (+)NCBICHM1_1
T2T-CHM13v2.06161,045,047 - 161,066,381 (+)NCBIT2T-CHM13v2.0
Pnldc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391713,107,610 - 13,129,489 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1713,107,608 - 13,129,147 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm381712,888,723 - 12,910,580 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1712,888,729 - 12,910,230 (-)EnsemblGRCm38.p6 Ensemblmm10GRCm38
MGSCv371713,081,768 - 13,102,866 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv361712,731,662 - 12,752,945 (-)NCBIMGSCv36mm8
Celera1712,920,797 - 12,941,548 (-)NCBICelera
Cytogenetic Map17A1NCBI
cM Map178.71NCBI
Pnldc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8150,390,884 - 50,409,457 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl150,390,918 - 50,409,457 (+)EnsemblGRCr8
mRatBN7.2147,843,224 - 47,861,675 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl147,843,224 - 47,861,674 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx148,534,865 - 48,553,318 (+)NCBIUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0154,520,755 - 54,539,218 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0148,610,386 - 48,628,839 (+)NCBIUTH_Rnor_WKY_Bbb_1.0
Dahl_SR_JrHsd150,093,296 - 50,111,723 (+)NCBI
Lyon_Normotensive149,432,629 - 49,451,056 (+)NCBI
Lyon_Hypertensive150,603,597 - 50,622,024 (+)NCBI
F344_StmMcwi148,795,008 - 48,813,459 (+)NCBI
Rnor_6.0148,038,830 - 48,058,400 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl148,039,909 - 48,058,400 (+)EnsemblRnor_6.0 Ensemblrn6Rnor6.0
Rnor_5.0151,693,998 - 51,713,576 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4142,117,702 - 42,136,153 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera143,643,672 - 43,662,123 (+)NCBICelera
RGSC_v3.1142,120,646 - 42,139,098 (+)NCBI
Cytogenetic Map1q11NCBI
Pnldc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543921,035,825 - 21,058,549 (-)EnsemblChiLan1.0 Ensembl
ChiLan1.0NW_00495543921,039,638 - 21,058,558 (-)NCBIChiLan1.0ChiLan1.0
PNLDC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25179,898,081 - 179,927,071 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16177,801,928 - 177,833,233 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06157,682,286 - 157,707,632 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16162,694,132 - 162,715,220 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6162,694,724 - 162,716,700 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
PNLDC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1149,045,153 - 49,063,008 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl149,044,979 - 49,062,802 (+)EnsemblCanFam3.1 EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha149,887,125 - 49,905,218 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0149,229,868 - 49,247,792 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl149,229,840 - 49,248,343 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1149,112,227 - 49,130,315 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0148,983,300 - 49,001,345 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0149,598,507 - 49,616,691 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Pnldc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mIctTri1.hap187,626,894 - 7,645,138 (-)NCBImIctTri1.hap1
HiC_Itri_2NW_024404946144,037,262 - 144,056,151 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648911,290,008 - 11,308,118 (+)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_00493648911,289,557 - 11,308,136 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNLDC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl17,559,745 - 7,579,197 (-)EnsemblSscrofa11.1 EnsemblsusScr11Sscrofa11.1
Sscrofa11.117,560,084 - 7,580,062 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.219,359,188 - 9,378,191 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PNLDC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap11310,871,249 - 10,894,063 (-)NCBImChlSab1.0.hap1
Vero_WHO_p1.0NW_02366604059,794,923 - 59,817,245 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
ChlSab1.11387,396,297 - 87,418,368 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1387,397,636 - 87,422,594 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Pnldc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248553,088,457 - 3,111,711 (-)NCBIHetGla 1.0HetGla 1.0hetGla2
HetGla_female_1.0 EnsemblNW_0046248553,087,365 - 3,112,123 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
Naked mole-rat maternal Ensembl184,304,339 - 84,327,439 (-)Ensembl
Pnldc1
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v12191,619,433 - 191,639,140 (-)NCBIRrattus_CSIRO_v1Rrattus_CSIRO_v1

Variants

.
Variants in PNLDC1
53 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3 copy number gain See cases [RCV000050604] Chr6:6q24.1-27 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170583214)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051902]|See cases [RCV000051902] Chr6:152376338..170583214 [GRCh38]
Chr6:152697473..170892302 [GRCh37]
Chr6:152739166..170734227 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:158664768-170612001)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051904]|See cases [RCV000051904] Chr6:158664768..170612001 [GRCh38]
Chr6:159085800..170921089 [GRCh37]
Chr6:159005788..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:6q25.2-27 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:6q25.3-27 pathogenic
NM_173516.2(PNLDC1):c.1224C>T (p.Ile408=) single nucleotide variant Malignant melanoma [RCV000067202] Chr6:159818654 [GRCh38]
Chr6:160239686 [GRCh37]
Chr6:160159676 [NCBI36]
Chr6:6q25.3		 not provided
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:6q25.2-27 pathogenic
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000137831] Chr6:6q25.3-26 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:6q25.2-27 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:6q25.2-27 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:6q23.2-27 pathogenic
GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3 copy number gain See cases [RCV000143618] Chr6:6q25.3-26 uncertain significance
NM_001271862.2(PNLDC1):c.283C>T (p.Pro95Ser) single nucleotide variant SPERMATOGENIC FAILURE 57 [RCV001564024] Chr6:159803999 [GRCh38]
Chr6:160225031 [GRCh37]
Chr6:6q25.3		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000449011] Chr6:6q25.1-27 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain Intrauterine growth retardation [RCV000512067] Chr6:6p25.3-q27 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain Abnormality of the ear [RCV000510595] Chr6:6p25.3-q27 pathogenic
NM_001271862.2(PNLDC1):c.517G>C (p.Glu173Gln) single nucleotide variant not specified [RCV004314487] Chr6:159806038 [GRCh38]
Chr6:160227070 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159844762-170919482)x3 copy number gain not provided [RCV000682734] Chr6:6q25.3-27 pathogenic
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn complex hypoplastic nails of the fifth digits. [RCV000714957] Chr6:151443333..171115067 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001271862.2(PNLDC1):c.1387C>T (p.Arg463Ter) single nucleotide variant SPERMATOGENIC FAILURE 57 [RCV001564023] Chr6:159819075 [GRCh38]
Chr6:160240107 [GRCh37]
Chr6:6q25.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q25.1-27(chr6:150284435-170919470)x3 copy number gain not provided [RCV000746100] Chr6:150284435..170919470 [GRCh37]
Chr6:6q25.1-27		 pathogenic
GRCh37/hg19 6q25.3-27(chr6:159155998-171054786)x3 copy number gain not provided [RCV000746132] Chr6:159155998..171054786 [GRCh37]
Chr6:6q25.3-27		 pathogenic
GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3 copy number gain not provided [RCV000848057] Chr6:6q25.3 uncertain significance
GRCh37/hg19 6q25.3(chr6:160025206-160271483)x1 copy number loss not provided [RCV000846782] Chr6:6q25.3 uncertain significance
NM_001271862.2(PNLDC1):c.1174G>A (p.Glu392Lys) single nucleotide variant Non-obstructive azoospermia [RCV001844795] Chr6:159818571 [GRCh38]
Chr6:160239603 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1459C>T (p.Arg487Trp) single nucleotide variant Non-obstructive azoospermia [RCV001844433] Chr6:159819279 [GRCh38]
Chr6:160240311 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3 copy number gain not provided [RCV003312672] Chr6:6q25.3-27 uncertain significance
NM_001271862.2(PNLDC1):c.640-2A>T single nucleotide variant SPERMATOGENIC FAILURE 57 [RCV001564026] Chr6:159809013 [GRCh38]
Chr6:160230045 [GRCh37]
Chr6:6q25.3		 pathogenic
NM_001271862.2(PNLDC1):c.1041G>A (p.Ala347=) single nucleotide variant not provided [RCV000894780] Chr6:159816014 [GRCh38]
Chr6:160237046 [GRCh37]
Chr6:6q25.3		 likely benign
GRCh37/hg19 6q25.3(chr6:159998877-160413982)x3 copy number gain not provided [RCV001258756] Chr6:6q25.3 uncertain significance
NM_001271862.2(PNLDC1):c.809T>C (p.Met270Thr) single nucleotide variant SPERMATOGENIC FAILURE 57 [RCV002246421] Chr6:159810051 [GRCh38]
Chr6:160231083 [GRCh37]
Chr6:6q25.3		 pathogenic|uncertain significance
NM_001271862.2(PNLDC1):c.172C>G (p.Arg58Gly) single nucleotide variant SPERMATOGENIC FAILURE 57 [RCV001845057] Chr6:159801150 [GRCh38]
Chr6:160222182 [GRCh37]
Chr6:6q25.3		 pathogenic
GRCh37/hg19 6q25.2-26(chr6:153207930-164322346) copy number loss not specified [RCV002053640] Chr6:6q25.2-26 pathogenic
NM_001271862.2(PNLDC1):c.136dup (p.Leu46fs) duplication SPERMATOGENIC FAILURE 57 [RCV002246420] Chr6:159801113..159801114 [GRCh38]
Chr6:160222145..160222146 [GRCh37]
Chr6:6q25.3		 pathogenic
NC_000006.11:g.(?_158532398)_(162868359_?)del deletion 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome [RCV003122912] Chr6:6q25.3-26 pathogenic|no classifications from unflagged records
NM_001271862.2(PNLDC1):c.743G>A (p.Gly248Asp) single nucleotide variant Non-obstructive azoospermia [RCV002260402] Chr6:159809118 [GRCh38]
Chr6:160230150 [GRCh37]
Chr6:6q25.3		 likely pathogenic
NM_001271862.2(PNLDC1):c.880A>T (p.Ile294Phe) single nucleotide variant not specified [RCV004290336] Chr6:159811727 [GRCh38]
Chr6:160232759 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3-27(chr6:159121459-170919482) copy number loss Hydrocephalus [RCV002280751] Chr6:6q25.3-27 pathogenic
GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1 copy number loss see cases [RCV002287557] Chr6:6q25.3-27 pathogenic
NM_001271862.2(PNLDC1):c.523G>A (p.Ala175Thr) single nucleotide variant not specified [RCV004327154] Chr6:159806044 [GRCh38]
Chr6:160227076 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1172C>T (p.Pro391Leu) single nucleotide variant not specified [RCV004140064] Chr6:159818569 [GRCh38]
Chr6:160239601 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1070A>C (p.Lys357Thr) single nucleotide variant not specified [RCV004106697] Chr6:159816552 [GRCh38]
Chr6:160237584 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.77-33C>G single nucleotide variant not provided [RCV002512322] Chr6:159800739 [GRCh38]
Chr6:160221771 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.640G>C (p.Val214Leu) single nucleotide variant not specified [RCV004085711] Chr6:159809015 [GRCh38]
Chr6:160230047 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.879T>A (p.Asn293Lys) single nucleotide variant not specified [RCV004216767] Chr6:159811726 [GRCh38]
Chr6:160232758 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1087G>A (p.Ala363Thr) single nucleotide variant not specified [RCV004084871] Chr6:159816569 [GRCh38]
Chr6:160237601 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.77-112T>G single nucleotide variant Acute myeloid leukemia [RCV005979166] Chr6:159800660 [GRCh38]
Chr6:160221692 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.401A>G (p.Asn134Ser) single nucleotide variant not specified [RCV004255916] Chr6:159804577 [GRCh38]
Chr6:160225609 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.701G>A (p.Arg234Gln) single nucleotide variant not specified [RCV004274167] Chr6:159809076 [GRCh38]
Chr6:160230108 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1537T>A (p.Cys513Ser) single nucleotide variant not specified [RCV004249883] Chr6:159820458 [GRCh38]
Chr6:160241490 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.230T>C (p.Ile77Thr) single nucleotide variant not specified [RCV004300686] Chr6:159803292 [GRCh38]
Chr6:160224324 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.76+4A>T single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005979165] Chr6:159800387 [GRCh38]
Chr6:160221419 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.508C>A (p.Arg170=) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV005979172] Chr6:159806029 [GRCh38]
Chr6:160227061 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.1114+250G>T single nucleotide variant Cervical cancer [RCV005979184] Chr6:159816846 [GRCh38]
Chr6:160237878 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.175C>A (p.Gln59Lys) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV005979168] Chr6:159801153 [GRCh38]
Chr6:160222185 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.736G>T (p.Ala246Ser) single nucleotide variant Uterine corpus endometrial carcinoma [RCV005979181] Chr6:159809111 [GRCh38]
Chr6:160230143 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.253A>G (p.Ile85Val) single nucleotide variant not specified [RCV006318769] Chr6:159803969 [GRCh38]
Chr6:160225001 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.1462G>C (p.Asp488His) single nucleotide variant not specified [RCV006318770] Chr6:159819282 [GRCh38]
Chr6:160240314 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.3-26(chr6:158717518-162359905)x3 copy number gain not specified [RCV005862262] Chr6:6q25.3-26 uncertain significance
NM_001271862.2(PNLDC1):c.1436C>A (p.Ala479Glu) single nucleotide variant not specified [RCV006318766] Chr6:159819256 [GRCh38]
Chr6:160240288 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1069A>G (p.Lys357Glu) single nucleotide variant not specified [RCV005701204] Chr6:159816551 [GRCh38]
Chr6:160237583 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.77-111T>G single nucleotide variant Acute myeloid leukemia [RCV005979167] Chr6:159800661 [GRCh38]
Chr6:160221693 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.307T>A (p.Ser103Thr) single nucleotide variant not specified [RCV005466883] Chr6:159804023 [GRCh38]
Chr6:160225055 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.209-277G>T single nucleotide variant Malignant tumor of esophagus [RCV005979169] Chr6:159802994 [GRCh38]
Chr6:160224026 [GRCh37]
Chr6:6q25.3		 evidence_only
GRCh38/hg38 6q25.2-27(chr6:153483970-170605209)x3 copy number gain not provided [RCV006605546] Chr6:6q25.2-27 likely pathogenic
GRCh38/hg38 6q24.2-27(chr6:144488859-170610382)x3 copy number gain See cases [RCV006539511] Chr6:6q24.2-27 pathogenic
NM_001271862.2(PNLDC1):c.373-71G>A single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005979170] Chr6:159804478 [GRCh38]
Chr6:160225510 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.1258-19T>A single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005979185] Chr6:159818927 [GRCh38]
Chr6:160239959 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.76+3G>C single nucleotide variant Ovarian serous cystadenocarcinoma [RCV005979164] Chr6:159800386 [GRCh38]
Chr6:160221418 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.1252A>G (p.Lys418Glu) single nucleotide variant not specified [RCV006318772] Chr6:159818649 [GRCh38]
Chr6:160239681 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.290C>T (p.Thr97Met) single nucleotide variant not specified [RCV004345368] Chr6:159804006 [GRCh38]
Chr6:160225038 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.310G>A (p.Glu104Lys) single nucleotide variant not specified [RCV005466884] Chr6:159804026 [GRCh38]
Chr6:160225058 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.458G>A (p.Arg153His) single nucleotide variant not specified [RCV005466886] Chr6:159804634 [GRCh38]
Chr6:160225666 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.170C>T (p.Thr57Ile) single nucleotide variant not specified [RCV005709737] Chr6:159801148 [GRCh38]
Chr6:160222180 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.77-18T>C single nucleotide variant not specified [RCV005709738] Chr6:159800754 [GRCh38]
Chr6:160221786 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1069_1070delinsT (p.Lys357fs) indel Not Provided [RCV003331562] Chr6:159816551..159816552 [GRCh38]
Chr6:160237583..160237584 [GRCh37]
Chr6:6q25.3		 not provided
NM_001271862.2(PNLDC1):c.402T>G (p.Asn134Lys) single nucleotide variant not specified [RCV004359162] Chr6:159804578 [GRCh38]
Chr6:160225610 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.121C>T (p.Pro41Ser) single nucleotide variant not specified [RCV004343937] Chr6:159800816 [GRCh38]
Chr6:160221848 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1040C>T (p.Ala347Val) single nucleotide variant not specified [RCV004341245] Chr6:159816013 [GRCh38]
Chr6:160237045 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1516G>A (p.Val506Ile) single nucleotide variant not specified [RCV004509699] Chr6:159819336 [GRCh38]
Chr6:160240368 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.429C>G (p.His143Gln) single nucleotide variant not specified [RCV004509701] Chr6:159804605 [GRCh38]
Chr6:160225637 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.255A>G (p.Ile85Met) single nucleotide variant not specified [RCV004509700] Chr6:159803971 [GRCh38]
Chr6:160225003 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.775G>A (p.Ala259Thr) single nucleotide variant not specified [RCV004509705] Chr6:159809150 [GRCh38]
Chr6:160230182 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.14C>G (p.Ala5Gly) single nucleotide variant not provided [RCV004546256] Chr6:159800321 [GRCh38]
Chr6:160221353 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1513A>G (p.Asn505Asp) single nucleotide variant not specified [RCV004509698] Chr6:159819333 [GRCh38]
Chr6:160240365 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.462C>T (p.Ser154=) single nucleotide variant not specified [RCV004509702] Chr6:159805983 [GRCh38]
Chr6:160227015 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.499G>A (p.Glu167Lys) single nucleotide variant not specified [RCV004509703] Chr6:159806020 [GRCh38]
Chr6:160227052 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.790G>T (p.Val264Leu) single nucleotide variant Male infertility [RCV004573394] Chr6:159810032 [GRCh38]
Chr6:160231064 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1058A>G (p.Tyr353Cys) single nucleotide variant Male infertility [RCV004573395] Chr6:159816031 [GRCh38]
Chr6:160237063 [GRCh37]
Chr6:6q25.3		 likely pathogenic
NM_001271862.2(PNLDC1):c.226G>T (p.Ala76Ser) single nucleotide variant not specified [RCV005701203] Chr6:159803288 [GRCh38]
Chr6:160224320 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.1267G>C (p.Gly423Arg) single nucleotide variant not specified [RCV005709739] Chr6:159818955 [GRCh38]
Chr6:160239987 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.620C>T (p.Thr207Met) single nucleotide variant not specified [RCV005709740] Chr6:159808797 [GRCh38]
Chr6:160229829 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1289G>A (p.Arg430Gln) single nucleotide variant not specified [RCV005709734] Chr6:159818977 [GRCh38]
Chr6:160240009 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1568C>T (p.Ala523Val) single nucleotide variant not specified [RCV005709736] Chr6:159820489 [GRCh38]
Chr6:160241521 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.497A>G (p.Asp166Gly) single nucleotide variant not specified [RCV005701201] Chr6:159806018 [GRCh38]
Chr6:160227050 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.77-24T>G single nucleotide variant not specified [RCV005701202] Chr6:159800748 [GRCh38]
Chr6:160221780 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1515C>G (p.Asn505Lys) single nucleotide variant not specified [RCV004653551] Chr6:159819335 [GRCh38]
Chr6:160240367 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q24.2-27(chr6:144561123-170919482)x3 copy number gain not provided [RCV004819303] Chr6:6q24.2-27 pathogenic
GRCh37/hg19 6q25.3-27(chr6:158471960-170919482)x1 copy number loss not provided [RCV004819350] Chr6:6q25.3-27 pathogenic
NM_001271862.2(PNLDC1):c.1567G>A (p.Ala523Thr) single nucleotide variant not specified [RCV004845073] Chr6:159820488 [GRCh38]
Chr6:160241520 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1216G>A (p.Val406Met) single nucleotide variant not specified [RCV005395891] Chr6:159818613 [GRCh38]
Chr6:160239645 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.452G>T (p.Arg151Ile) single nucleotide variant not specified [RCV005395895] Chr6:159804628 [GRCh38]
Chr6:160225660 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.467C>T (p.Pro156Leu) single nucleotide variant not specified [RCV005395892] Chr6:159805988 [GRCh38]
Chr6:160227020 [GRCh37]
Chr6:6q25.3		 likely benign
NM_001271862.2(PNLDC1):c.1246G>A (p.Val416Ile) single nucleotide variant not specified [RCV005395893] Chr6:159818643 [GRCh38]
Chr6:160239675 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1376T>C (p.Phe459Ser) single nucleotide variant not specified [RCV005395894] Chr6:159819064 [GRCh38]
Chr6:160240096 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1492C>T (p.Arg498Cys) single nucleotide variant not specified [RCV005466882] Chr6:159819312 [GRCh38]
Chr6:160240344 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.689C>T (p.Thr230Ile) single nucleotide variant not specified [RCV005466888] Chr6:159809064 [GRCh38]
Chr6:160230096 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.953C>T (p.Pro318Leu) single nucleotide variant not specified [RCV005466889] Chr6:159813614 [GRCh38]
Chr6:160234646 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.1336G>A (p.Glu446Lys) single nucleotide variant not specified [RCV005466885] Chr6:159819024 [GRCh38]
Chr6:160240056 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.563-2A>G single nucleotide variant Spermatogenic failure 57 [RCV005882452] Chr6:159808738 [GRCh38]
Chr6:160229770 [GRCh37]
Chr6:6q25.3		 likely pathogenic
NM_001271862.2(PNLDC1):c.1257+1G>A single nucleotide variant Spermatogenic failure 57 [RCV006696180] Chr6:159818655 [GRCh38]
Chr6:160239687 [GRCh37]
Chr6:6q25.3		 likely pathogenic
NM_001271862.2(PNLDC1):c.645A>G (p.Val215=) single nucleotide variant Melanoma [RCV005979178] Chr6:159809020 [GRCh38]
Chr6:160230052 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.333T>G (p.Ser111Arg) single nucleotide variant not specified [RCV005466887] Chr6:159804049 [GRCh38]
Chr6:160225081 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.508C>T (p.Arg170Trp) single nucleotide variant not specified [RCV005709735] Chr6:159806029 [GRCh38]
Chr6:160227061 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.370A>G (p.Lys124Glu) single nucleotide variant not specified [RCV006318768] Chr6:159804086 [GRCh38]
Chr6:160225118 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.77-33C>A single nucleotide variant not specified [RCV006318771] Chr6:159800739 [GRCh38]
Chr6:160221771 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.854-37C>G single nucleotide variant Familial cancer of breast [RCV005979182] Chr6:159811664 [GRCh38]
Chr6:160232696 [GRCh37]
Chr6:6q25.3		 evidence_only
NM_001271862.2(PNLDC1):c.908A>T (p.Asp303Val) single nucleotide variant not specified [RCV004363506] Chr6:159811755 [GRCh38]
Chr6:160232787 [GRCh37]
Chr6:6q25.3		 uncertain significance
GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1 copy number loss Pulmonic stenosis [RCV004442824] Chr6:6q25.2-27 pathogenic
NM_001271862.2(PNLDC1):c.1257+2T>C single nucleotide variant Spermatogenic failure 57 [RCV003990519] Chr6:159818656 [GRCh38]
Chr6:160239688 [GRCh37]
Chr6:6q25.3		 likely pathogenic
GRCh37/hg19 6q25.2-27(chr6:153777725-170919482)x1 copy number loss not provided [RCV004819349] Chr6:6q25.2-27 pathogenic
NM_001271862.2(PNLDC1):c.385G>A (p.Gly129Arg) single nucleotide variant not specified [RCV004850745] Chr6:159804561 [GRCh38]
Chr6:160225593 [GRCh37]
Chr6:6q25.3		 uncertain significance
NM_001271862.2(PNLDC1):c.373-10C>A single nucleotide variant Familial cancer of breast [RCV005979171] Chr6:159804539 [GRCh38]
Chr6:160225571 [GRCh37]
Chr6:6q25.3		 evidence_only
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1687
Count of miRNA genes:701
Interacting mature miRNAs:798
Transcripts:ENST00000275275, ENST00000392167, ENST00000609334, ENST00000609658, ENST00000610041, ENST00000610048, ENST00000610273
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
628542279GWAS2450508_Hlipoprotein A measurement QTL GWAS2450508 (human)2e-14lipoprotein A measurement6159806021159806022Human
628542277GWAS2450506_Hlipoprotein A measurement QTL GWAS2450506 (human)3e-14lipoprotein A measurement6159812983159812984Human
628776889GWAS2685118_Hlipoprotein A measurement QTL GWAS2685118 (human)4e-22lipoprotein A measurement6159818803159818804Human
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
628777104GWAS2685333_Hlipoprotein A measurement QTL GWAS2685333 (human)2e-11lipoprotein A measurement6159806021159806022Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human
628774068GWAS2682297_Hlipoprotein A measurement QTL GWAS2682297 (human)6e-35lipoprotein A measurement6159816995159816996Human
628774069GWAS2682298_Hlipoprotein A measurement QTL GWAS2682298 (human)9e-34lipoprotein A measurement6159820319159820320Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1102 2364 2670 2157 4798 1585 2164 2 556 1770 408 2086 6745 6031 43 3684 1 763 1678 1502 163 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001271862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054354363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK093139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM666663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000275275   ⟹   ENSP00000275275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,269 - 159,820,704 (+)Ensembl
Ensembl Acc Id: ENST00000392167   ⟹   ENSP00000376007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,276 - 159,820,704 (+)Ensembl
Ensembl Acc Id: ENST00000609334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,294 - 159,805,738 (+)Ensembl
Ensembl Acc Id: ENST00000609658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,808,928 - 159,816,595 (+)Ensembl
Ensembl Acc Id: ENST00000610041   ⟹   ENSP00000476769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,266 - 159,809,121 (+)Ensembl
Ensembl Acc Id: ENST00000610048   ⟹   ENSP00000476544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,271 - 159,806,037 (+)Ensembl
Ensembl Acc Id: ENST00000610273   ⟹   ENSP00000476448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,249 - 159,820,704 (+)Ensembl
Ensembl Acc Id: ENST00000943611   ⟹   ENSP00000613670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,249 - 159,820,704 (+)Ensembl
Ensembl Acc Id: ENST00001141341   ⟹   ENSP00000811502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6159,800,249 - 159,820,704 (+)Ensembl
RefSeq Acc Id: NM_001271862   ⟹   NP_001258791
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,276 - 159,820,704 (+)NCBI
GRCh376160,221,281 - 160,241,736 (+)NCBI
HuRef6157,691,517 - 157,712,066 (+)NCBI
CHM1_16160,483,575 - 160,503,997 (+)NCBI
T2T-CHM13v2.06161,045,895 - 161,066,381 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173516   ⟹   NP_775787
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,276 - 159,820,704 (+)NCBI
GRCh376160,221,281 - 160,241,736 (+)NCBI
Build 366160,141,291 - 160,161,725 (+)NCBI Archive
Celera6160,867,378 - 160,887,807 (+)RGD
HuRef6157,691,517 - 157,712,066 (+)NCBI
CHM1_16160,483,575 - 160,503,997 (+)NCBI
T2T-CHM13v2.06161,045,895 - 161,066,381 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535491   ⟹   XP_011533793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,276 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011535493   ⟹   XP_011533795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,805,640 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010312   ⟹   XP_016865801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,799,459 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010313   ⟹   XP_016865802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,799,459 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010314   ⟹   XP_016865803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,799,459 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010315   ⟹   XP_016865804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,276 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010316   ⟹   XP_016865805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,276 - 159,820,704 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446339   ⟹   XP_024302107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,799,455 - 159,810,095 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054354356   ⟹   XP_054210331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,051 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354357   ⟹   XP_054210332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,051 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354358   ⟹   XP_054210333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,895 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354359   ⟹   XP_054210334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,050 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354360   ⟹   XP_054210335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,895 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354361   ⟹   XP_054210336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,895 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354362   ⟹   XP_054210337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,051,252 - 161,066,381 (+)NCBI
RefSeq Acc Id: XM_054354363   ⟹   XP_054210338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06161,045,047 - 161,055,700 (+)NCBI
RefSeq Acc Id: NP_775787   ⟸   NM_173516
- Peptide Label: isoform 2
- UniProtKB: Q5TAP7 (UniProtKB/Swiss-Prot),   Q8N7X5 (UniProtKB/Swiss-Prot),   Q8NA58 (UniProtKB/Swiss-Prot),   A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001258791   ⟸   NM_001271862
- Peptide Label: isoform 1
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533793   ⟸   XM_011535491
- Peptide Label: isoform X3
- UniProtKB: Q5TAP7 (UniProtKB/Swiss-Prot),   Q8N7X5 (UniProtKB/Swiss-Prot),   Q8NA58 (UniProtKB/Swiss-Prot),   A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011533795   ⟸   XM_011535493
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016865801   ⟸   XM_017010312
- Peptide Label: isoform X1
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865803   ⟸   XM_017010314
- Peptide Label: isoform X4
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865802   ⟸   XM_017010313
- Peptide Label: isoform X2
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865804   ⟸   XM_017010315
- Peptide Label: isoform X5
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865805   ⟸   XM_017010316
- Peptide Label: isoform X6
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024302107   ⟸   XM_024446339
- Peptide Label: isoform X8
- Sequence:
Ensembl Acc Id: ENSP00000476769   ⟸   ENST00000610041
Ensembl Acc Id: ENSP00000476544   ⟸   ENST00000610048
Ensembl Acc Id: ENSP00000476448   ⟸   ENST00000610273
Ensembl Acc Id: ENSP00000376007   ⟸   ENST00000392167
Ensembl Acc Id: ENSP00000275275   ⟸   ENST00000275275
RefSeq Acc Id: XP_054210338   ⟸   XM_054354363
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054210334   ⟸   XM_054354359
- Peptide Label: isoform X4
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210331   ⟸   XM_054354356
- Peptide Label: isoform X1
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210332   ⟸   XM_054354357
- Peptide Label: isoform X2
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210336   ⟸   XM_054354361
- Peptide Label: isoform X6
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210333   ⟸   XM_054354358
- Peptide Label: isoform X3
- UniProtKB: Q8NA58 (UniProtKB/Swiss-Prot),   Q5TAP7 (UniProtKB/Swiss-Prot),   Q8N7X5 (UniProtKB/Swiss-Prot),   A0ACI8U8E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210335   ⟸   XM_054354360
- Peptide Label: isoform X5
- UniProtKB: A0ACI8U8E8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054210337   ⟸   XM_054354362
- Peptide Label: isoform X7
Ensembl Acc Id: ENSP00000613670   ⟸   ENST00000943611
Ensembl Acc Id: ENSP00000811502   ⟸   ENST00001141341

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NA58-F1-model_v2 AlphaFold Q8NA58 1-520 view protein structure

Promoters
RGD ID:7209597
Promoter ID:EPDNEW_H10544
Type:initiation region
Name:PNLDC1_2
Description:PARN like, ribonuclease domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10545  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,173 - 159,800,233EPDNEW
RGD ID:7209599
Promoter ID:EPDNEW_H10545
Type:initiation region
Name:PNLDC1_1
Description:PARN like, ribonuclease domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10544  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386159,800,286 - 159,800,346EPDNEW
RGD ID:6804075
Promoter ID:HG_KWN:55661
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000392165,   OTTHUMT00000042924,   UC003QSY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 366160,140,831 - 160,141,552 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21185 AgrOrtholog
COSMIC PNLDC1 COSMIC
Ensembl Genes ENSG00000146453 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000392167 ENTREZGENE
  ENST00000392167.4 UniProtKB/Swiss-Prot
  ENST00000610273 ENTREZGENE
  ENST00000610273.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot
GTEx ENSG00000146453 GTEx
HGNC ID HGNC:21185 ENTREZGENE
Human Proteome Map PNLDC1 Human Proteome Map
InterPro CAF1_poly(A)_ribonucleases UniProtKB/Swiss-Prot
  RNase_CAF1 UniProtKB/Swiss-Prot
  RNaseH-like_sf UniProtKB/Swiss-Prot
  RNaseH_sf UniProtKB/Swiss-Prot
KEGG Report hsa:154197 UniProtKB/Swiss-Prot
NCBI Gene 154197 ENTREZGENE
OMIM 619529 OMIM
PANTHER POLY A -SPECIFIC RIBONUCLEASE/TARGET OF EGR1, MEMBER 1 UniProtKB/Swiss-Prot
  POLY(A)-SPECIFIC RIBONUCLEASE PNLDC1 UniProtKB/Swiss-Prot
Pfam CAF1 UniProtKB/Swiss-Prot
PharmGKB PA134892245 PharmGKB
Superfamily-SCOP SSF53098 UniProtKB/Swiss-Prot
UniProt A0ACI8U8E8 ENTREZGENE, UniProtKB/TrEMBL
  PNDC1_HUMAN UniProtKB/Swiss-Prot
  Q5TAP7 ENTREZGENE
  Q8N7X5 ENTREZGENE
  Q8NA58 ENTREZGENE
  V9GYA0_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5TAP7 UniProtKB/Swiss-Prot
  Q8N7X5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-04-19 PNLDC1  PARN like ribonuclease domain containing exonuclease 1  PNLDC1  PARN like, ribonuclease domain containing 1  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 PNLDC1  PARN like, ribonuclease domain containing 1    poly(A)-specific ribonuclease (PARN)-like domain containing 1  Symbol and/or name change 5135510 APPROVED