PAPOLB (poly(A) polymerase beta) - Rat Genome Database

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Gene: PAPOLB (poly(A) polymerase beta) Homo sapiens
Analyze
Symbol: PAPOLB
Name: poly(A) polymerase beta
RGD ID: 1322134
HGNC Page HGNC:15970
Description: Predicted to enable several functions, including ATP binding activity; metal ion binding activity; and poly(A) RNA polymerase activity. Predicted to be involved in RNA 3'-end processing and mRNA processing. Predicted to be located in endoplasmic reticulum. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PAP-beta; PAPT; poly(A) polymerase beta (testis specific); polynucleotide adenylyltransferase beta; testis-specific poly(A) polymerase; TPAP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-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
GRCh3874,857,738 - 4,862,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl74,857,738 - 4,862,030 (-)EnsemblGRCh38hg38GRCh38
GRCh3774,897,369 - 4,901,661 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3674,863,895 - 4,868,151 (-)NCBINCBI36Build 36hg18NCBI36
Build 3474,670,611 - 4,674,866NCBI
Celera74,856,457 - 4,860,713 (-)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef74,812,979 - 4,817,235 (-)NCBIHuRef
CHM1_174,897,092 - 4,901,348 (-)NCBICHM1_1
T2T-CHM13v2.074,974,940 - 4,979,232 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v274,943,724 - 4,947,980 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway 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. Means to an end: mechanisms of alternative polyadenylation of messenger RNA precursors. Gruber AR, etal., Wiley Interdiscip Rev RNA. 2014 Mar-Apr;5(2):183-96. doi: 10.1002/wrna.1206. Epub 2013 Nov 14.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8491200   PMID:11150526   PMID:11459229   PMID:12477932   PMID:15489334   PMID:21873635   PMID:26344197   PMID:34349018   PMID:36215168  


Genomics

Comparative Map Data
PAPOLB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3874,857,738 - 4,862,030 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl74,857,738 - 4,862,030 (-)EnsemblGRCh38hg38GRCh38
GRCh3774,897,369 - 4,901,661 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3674,863,895 - 4,868,151 (-)NCBINCBI36Build 36hg18NCBI36
Build 3474,670,611 - 4,674,866NCBI
Celera74,856,457 - 4,860,713 (-)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef74,812,979 - 4,817,235 (-)NCBIHuRef
CHM1_174,897,092 - 4,901,348 (-)NCBICHM1_1
T2T-CHM13v2.074,974,940 - 4,979,232 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v274,943,724 - 4,947,980 (-)NCBI
Papolb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,513,495 - 142,515,831 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5142,511,593 - 142,515,831 (-)EnsemblGRCm39 Ensembl
GRCm385142,527,740 - 142,530,076 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,525,838 - 142,530,076 (-)EnsemblGRCm38mm10GRCm38
MGSCv375143,003,694 - 143,006,030 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365142,780,214 - 142,782,550 (-)NCBIMGSCv36mm8
Celera5139,582,766 - 139,585,102 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.53NCBI
Papolb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81217,157,757 - 17,160,103 (+)NCBIGRCr8
mRatBN7.21212,044,275 - 12,046,621 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1212,044,480 - 12,046,656 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,846,725 - 12,849,071 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,469,956 - 13,472,302 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01212,501,082 - 12,503,428 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,112,426 - 14,114,772 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01216,140,417 - 16,142,763 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,440,762 - 12,443,108 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11212,470,689 - 12,473,030 (+)NCBI
Celera1213,826,942 - 13,829,288 (+)NCBICelera
Cytogenetic Map12p11NCBI
Papolb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,872,735 - 10,946,235 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,941,776 - 10,946,235 (+)NCBIChiLan1.0ChiLan1.0
PAPOLB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v269,821,428 - 9,828,341 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1758,146,132 - 58,153,045 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v075,110,442 - 5,114,734 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.175,150,895 - 5,155,214 (-)NCBIpanpan1.1PanPan1.1panPan2
PAPOLB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,792,167 - 12,795,557 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha614,263,022 - 14,265,654 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0612,928,469 - 12,931,099 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl612,928,651 - 12,930,777 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1612,739,190 - 12,741,822 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0612,672,206 - 12,674,838 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0612,948,336 - 12,950,968 (+)NCBIUU_Cfam_GSD_1.0
Papolb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344141,070,786 - 141,074,814 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367651,061,846 - 1,066,002 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PAPOLB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.133,696,416 - 3,700,986 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,347,054 - 4,351,384 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PAPOLB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,788,585 - 16,790,623 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660905,129,059 - 5,133,138 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Papolb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474028,451,467 - 28,457,301 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PAPOLB
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3 copy number gain See cases [RCV000050969] Chr7:4469558..5111872 [GRCh38]
Chr7:4509189..5151503 [GRCh37]
Chr7:4475715..5118029 [NCBI36]
Chr7:7p22.2-22.1		 uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|See cases [RCV000052255] Chr7:4532619..5378373 [GRCh38]
Chr7:4572250..5418004 [GRCh37]
Chr7:4538776..5384530 [NCBI36]
Chr7:7p22.1		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 copy number gain See cases [RCV000663395] Chr7:4644965..5436368 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1		 likely pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.1(chr7:4560890-5028707)x1 copy number loss See cases [RCV000240179] Chr7:4560890..5028707 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4743281-5163491)x1 copy number loss See cases [RCV000448545] Chr7:4743281..5163491 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)x3 copy number gain See cases [RCV000510795] Chr7:4412278..4933853 [GRCh37]
Chr7:7p22.2-22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1562A>G (p.Asp521Gly) single nucleotide variant not specified [RCV004300644] Chr7:4860249 [GRCh38]
Chr7:4899880 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1309A>T (p.Met437Leu) single nucleotide variant not specified [RCV004303422] Chr7:4860502 [GRCh38]
Chr7:4900133 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1000A>G (p.Thr334Ala) single nucleotide variant not specified [RCV004321648] Chr7:4860811 [GRCh38]
Chr7:4900442 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.7C>T (p.Pro3Ser) single nucleotide variant not specified [RCV004284406] Chr7:4861804 [GRCh38]
Chr7:4901435 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4859257-5167160)x3 copy number gain not provided [RCV000746401] Chr7:4859257..5167160 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:4807055-4930807)x1 copy number loss not provided [RCV000845657] Chr7:4807055..4930807 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.79A>G (p.Ile27Val) single nucleotide variant not specified [RCV004295957] Chr7:4861732 [GRCh38]
Chr7:4901363 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3 copy number gain not provided [RCV001259990] Chr7:4457599..5138409 [GRCh37]
Chr7:7p22.2-22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3 copy number gain not provided [RCV001259438] Chr7:4733073..5157165 [GRCh37]
Chr7:7p22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NC_000007.13:g.(?_4815347)_(5792630_?)dup duplication Baraitser-Winter syndrome 1 [RCV001978085] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.868G>C (p.Glu290Gln) single nucleotide variant not specified [RCV004303458] Chr7:4860943 [GRCh38]
Chr7:4900574 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
NM_020144.5(PAPOLB):c.434A>G (p.Lys145Arg) single nucleotide variant not specified [RCV004323813] Chr7:4861377 [GRCh38]
Chr7:4901008 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.159C>G (p.Phe53Leu) single nucleotide variant not specified [RCV004200565] Chr7:4861652 [GRCh38]
Chr7:4901283 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1770A>C (p.Leu590Phe) single nucleotide variant not specified [RCV004219439] Chr7:4860041 [GRCh38]
Chr7:4899672 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.311A>C (p.Tyr104Ser) single nucleotide variant not specified [RCV004115209] Chr7:4861500 [GRCh38]
Chr7:4901131 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:4868426-5184301)x3 copy number gain not provided [RCV002475697] Chr7:4868426..5184301 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1715C>T (p.Ala572Val) single nucleotide variant not specified [RCV004113500] Chr7:4860096 [GRCh38]
Chr7:4899727 [GRCh37]
Chr7:7p22.1		 likely benign
NM_020144.5(PAPOLB):c.558A>T (p.Arg186Ser) single nucleotide variant not specified [RCV004143661] Chr7:4861253 [GRCh38]
Chr7:4900884 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1680G>T (p.Leu560Phe) single nucleotide variant not specified [RCV004218110] Chr7:4860131 [GRCh38]
Chr7:4899762 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1384C>A (p.Gln462Lys) single nucleotide variant not specified [RCV004111388] Chr7:4860427 [GRCh38]
Chr7:4900058 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1843G>A (p.Val615Ile) single nucleotide variant not specified [RCV004236693] Chr7:4859968 [GRCh38]
Chr7:4899599 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.938T>G (p.Leu313Arg) single nucleotide variant not specified [RCV004072886] Chr7:4860873 [GRCh38]
Chr7:4900504 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1282A>G (p.Asn428Asp) single nucleotide variant not specified [RCV004150372] Chr7:4860529 [GRCh38]
Chr7:4900160 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.524C>T (p.Ala175Val) single nucleotide variant not specified [RCV004110147] Chr7:4861287 [GRCh38]
Chr7:4900918 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1495C>T (p.Pro499Ser) single nucleotide variant not specified [RCV004167340] Chr7:4860316 [GRCh38]
Chr7:4899947 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1847C>A (p.Ser616Tyr) single nucleotide variant not specified [RCV004173072] Chr7:4859964 [GRCh38]
Chr7:4899595 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1259A>G (p.Gln420Arg) single nucleotide variant not specified [RCV004213603] Chr7:4860552 [GRCh38]
Chr7:4900183 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.407C>G (p.Ala136Gly) single nucleotide variant not specified [RCV004081815] Chr7:4861404 [GRCh38]
Chr7:4901035 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1459A>G (p.Met487Val) single nucleotide variant not specified [RCV004185027] Chr7:4860352 [GRCh38]
Chr7:4899983 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.929G>A (p.Arg310Lys) single nucleotide variant not specified [RCV004325165] Chr7:4860882 [GRCh38]
Chr7:4900513 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1292T>C (p.Met431Thr) single nucleotide variant not specified [RCV004304414] Chr7:4860519 [GRCh38]
Chr7:4900150 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1852A>G (p.Thr618Ala) single nucleotide variant not specified [RCV004249209] Chr7:4859959 [GRCh38]
Chr7:4899590 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1597A>C (p.Ser533Arg) single nucleotide variant not specified [RCV004277732] Chr7:4860214 [GRCh38]
Chr7:4899845 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.8C>T (p.Pro3Leu) single nucleotide variant not specified [RCV004340185] Chr7:4861803 [GRCh38]
Chr7:4901434 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.603C>G (p.Ser201Arg) single nucleotide variant not specified [RCV004359075] Chr7:4861208 [GRCh38]
Chr7:4900839 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.337G>A (p.Ala113Thr) single nucleotide variant not specified [RCV004342058] Chr7:4861474 [GRCh38]
Chr7:4901105 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.886C>A (p.Leu296Ile) single nucleotide variant not specified [RCV004339129] Chr7:4860925 [GRCh38]
Chr7:4900556 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.686A>G (p.Lys229Arg) single nucleotide variant not specified [RCV004341057] Chr7:4861125 [GRCh38]
Chr7:4900756 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.272T>C (p.Ile91Thr) single nucleotide variant not specified [RCV004347880] Chr7:4861539 [GRCh38]
Chr7:4901170 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.595A>G (p.Ile199Val) single nucleotide variant not specified [RCV004335920] Chr7:4861216 [GRCh38]
Chr7:4900847 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1		 pathogenic
NM_020144.5(PAPOLB):c.300G>C (p.Thr100=) single nucleotide variant not provided [RCV003423536] Chr7:4861511 [GRCh38]
Chr7:4901142 [GRCh37]
Chr7:7p22.1		 likely benign
NM_020144.5(PAPOLB):c.1085T>G (p.Leu362Arg) single nucleotide variant not specified [RCV004500341] Chr7:4860726 [GRCh38]
Chr7:4900357 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1663A>G (p.Arg555Gly) single nucleotide variant not specified [RCV004500345] Chr7:4860148 [GRCh38]
Chr7:4899779 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.616C>T (p.Arg206Trp) single nucleotide variant not specified [RCV004500350] Chr7:4861195 [GRCh38]
Chr7:4900826 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.146C>A (p.Pro49His) single nucleotide variant not specified [RCV004500343] Chr7:4861665 [GRCh38]
Chr7:4901296 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.625G>A (p.Asp209Asn) single nucleotide variant not specified [RCV004500351] Chr7:4861186 [GRCh38]
Chr7:4900817 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.123G>T (p.Gln41His) single nucleotide variant not specified [RCV004500342] Chr7:4861688 [GRCh38]
Chr7:4901319 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.1774G>A (p.Glu592Lys) single nucleotide variant not specified [RCV004500346] Chr7:4860037 [GRCh38]
Chr7:4899668 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.946A>G (p.Ile316Val) single nucleotide variant not specified [RCV004500353] Chr7:4860865 [GRCh38]
Chr7:4900496 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_020144.5(PAPOLB):c.307T>A (p.Ser103Thr) single nucleotide variant not specified [RCV004500348] Chr7:4861504 [GRCh38]
Chr7:4901135 [GRCh37]
Chr7:7p22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:759
Count of miRNA genes:532
Interacting mature miRNAs:582
Transcripts:ENST00000404991
Prediction methods:Miranda
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
PAPOLB_3611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3774,899,416 - 4,900,322UniSTSGRCh37
Build 3674,865,942 - 4,866,848RGDNCBI36
Celera74,858,504 - 4,859,410RGD
HuRef74,815,026 - 4,815,932UniSTS
CRA_TCAGchr7v274,945,771 - 4,946,677UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 344
Low 3 1 5 2 14 4 14 36 6 2 8
Below cutoff 1739 2081 1061 200 715 96 2678 1360 3202 92 639 1036 105 902 1773 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000404991   ⟹   ENSP00000384700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,857,738 - 4,862,030 (-)Ensembl
RefSeq Acc Id: NM_020144   ⟹   NP_064529
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3874,857,738 - 4,862,030 (-)NCBI
GRCh3774,897,369 - 4,901,625 (-)RGD
Build 3674,863,895 - 4,868,151 (-)NCBI Archive
Celera74,856,457 - 4,860,713 (-)RGD
HuRef74,812,979 - 4,817,235 (-)RGD
CHM1_174,897,092 - 4,901,348 (-)NCBI
T2T-CHM13v2.074,974,940 - 4,979,232 (-)NCBI
CRA_TCAGchr7v274,943,724 - 4,947,980 (-)ENTREZGENE
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_064529   ⟸   NM_020144
- UniProtKB: Q75LH1 (UniProtKB/Swiss-Prot),   Q8NE14 (UniProtKB/Swiss-Prot),   Q9NRJ5 (UniProtKB/Swiss-Prot),   A4D1Z6 (UniProtKB/TrEMBL),   A0ZTA0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000384700   ⟸   ENST00000404991
Protein Domains
Poly(A) polymerase central   Poly(A) polymerase nucleotidyltransferase   Poly(A) polymerase RNA-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRJ5-F1-model_v2 AlphaFold Q9NRJ5 1-637 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15970 AgrOrtholog
COSMIC PAPOLB COSMIC
Ensembl Genes ENSG00000218823 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000404991 ENTREZGENE
  ENST00000404991.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.460.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Poly(A) polymerase predicted RNA binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000218823 GTEx
HGNC ID HGNC:15970 ENTREZGENE
Human Proteome Map PAPOLB Human Proteome Map
InterPro NT_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NuclTrfase_I-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolA_pol_cen_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolA_pol_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolA_pol_RNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolyA_polymerase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56903 ENTREZGENE
OMIM 607436 OMIM
PANTHER POLY A POLYMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLY(A) POLYMERASE BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PAP_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAP_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAP_RNA-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32933 PharmGKB
PIRSF PolyA_polymerase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PAP/OAS1 substrate-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81301 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0ZTA0 ENTREZGENE, UniProtKB/TrEMBL
  A4D1Z6 ENTREZGENE, UniProtKB/TrEMBL
  PAPOB_HUMAN UniProtKB/Swiss-Prot
  Q75LH1 ENTREZGENE
  Q8NE14 ENTREZGENE
  Q9NRJ5 ENTREZGENE
UniProt Secondary Q75LH1 UniProtKB/Swiss-Prot
  Q8NE14 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 PAPOLB  poly(A) polymerase beta    poly(A) polymerase beta (testis specific)  Symbol and/or name change 5135510 APPROVED