NOL7 (nucleolar protein 7) - Rat Genome Database

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Gene: NOL7 (nucleolar protein 7) Homo sapiens
Analyze
Symbol: NOL7
Name: nucleolar protein 7
RGD ID: 1343047
HGNC Page HGNC:21040
Description: Enables RNA binding activity. Involved in maturation of SSU-rRNA. Located in chromosome; mitochondrion; and nucleolus. Part of small-subunit processome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C6orf90; dJ223E5.2; MGC71933; nucleolar protein 7, 27kDa; nucleolar protein of 27 kDa; polyglutamine binding protein 3; PQBP3; RARG-1; retinoic acid repressible protein; U3 small nucleolar RNA-associated protein NOL7; U3 snoRNA-associated protein NOL7
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
GRCh38613,615,335 - 13,632,470 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl613,615,335 - 13,632,739 (+)EnsemblGRCh38hg38GRCh38
GRCh37613,615,567 - 13,632,702 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36613,723,538 - 13,729,106 (+)NCBINCBI36Build 36hg18NCBI36
Build 34613,723,537 - 13,729,105NCBI
Celera614,855,054 - 14,860,622 (+)NCBICelera
Cytogenetic Map6p23NCBI
HuRef613,559,935 - 13,565,503 (+)NCBIHuRef
CHM1_1613,617,926 - 13,623,494 (+)NCBICHM1_1
T2T-CHM13v2.0613,488,892 - 13,506,009 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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:9875212   PMID:11790298   PMID:12429849   PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:15635413   PMID:15840729   PMID:16205646   PMID:17207965   PMID:18029348  
PMID:20206243   PMID:20875127   PMID:21244100   PMID:21818416   PMID:21832049   PMID:21873635   PMID:21900206   PMID:22123719   PMID:22658674   PMID:22990118   PMID:23085760   PMID:23308053  
PMID:24457600   PMID:24711643   PMID:24981860   PMID:26209609   PMID:26496610   PMID:27926873   PMID:28514442   PMID:29298432   PMID:29395067   PMID:30021884   PMID:30404004   PMID:30463901  
PMID:30804502   PMID:30884312   PMID:30948266   PMID:31182584   PMID:31324722   PMID:31527615   PMID:31586073   PMID:32203420   PMID:32296183   PMID:33121134   PMID:33961781   PMID:34079125  
PMID:34133714   PMID:34373451   PMID:34516797   PMID:34642294   PMID:35013218   PMID:35271311   PMID:35337019   PMID:35831314   PMID:35833506   PMID:35915203   PMID:35944360   PMID:36057605  
PMID:36089195   PMID:36215168   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36537216   PMID:36574265   PMID:36897256   PMID:36912080   PMID:37071682   PMID:37246770   PMID:39103492  


Genomics

Comparative Map Data
NOL7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38613,615,335 - 13,632,470 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl613,615,335 - 13,632,739 (+)EnsemblGRCh38hg38GRCh38
GRCh37613,615,567 - 13,632,702 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36613,723,538 - 13,729,106 (+)NCBINCBI36Build 36hg18NCBI36
Build 34613,723,537 - 13,729,105NCBI
Celera614,855,054 - 14,860,622 (+)NCBICelera
Cytogenetic Map6p23NCBI
HuRef613,559,935 - 13,565,503 (+)NCBIHuRef
CHM1_1613,617,926 - 13,623,494 (+)NCBICHM1_1
T2T-CHM13v2.0613,488,892 - 13,506,009 (+)NCBIT2T-CHM13v2.0
Nol7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391343,551,852 - 43,556,334 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1343,551,866 - 43,560,573 (+)EnsemblGRCm39 Ensembl
GRCm381343,398,376 - 43,402,858 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1343,398,390 - 43,407,097 (+)EnsemblGRCm38mm10GRCm38
MGSCv371343,493,745 - 43,498,227 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361343,409,365 - 43,413,835 (+)NCBIMGSCv36mm8
Celera1344,476,966 - 44,481,446 (+)NCBICelera
Cytogenetic Map13A4NCBI
cM Map1321.6NCBI
Nol7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81721,509,605 - 21,512,879 (-)NCBIGRCr8
mRatBN7.21721,303,650 - 21,306,924 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1721,302,624 - 21,307,431 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1721,192,465 - 21,195,737 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01722,796,134 - 22,799,406 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01721,119,568 - 21,122,840 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01724,016,939 - 24,020,231 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1724,015,982 - 24,020,261 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01725,966,367 - 25,969,809 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41727,127,979 - 27,132,484 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1721,001,063 - 21,004,415 (-)NCBICelera
Cytogenetic Map17p14NCBI
Nol7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554651,123,518 - 1,127,433 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554651,123,455 - 1,127,529 (-)NCBIChiLan1.0ChiLan1.0
NOL7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2528,265,810 - 28,274,470 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1624,259,266 - 24,265,288 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0613,460,225 - 13,466,230 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1613,828,474 - 13,837,472 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl613,831,493 - 13,836,712 (+)Ensemblpanpan1.1panPan2
NOL7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13513,058,894 - 13,063,367 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3513,017,397 - 13,063,022 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3513,008,242 - 13,012,362 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03513,157,389 - 13,161,539 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3513,115,780 - 13,179,805 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13512,982,835 - 12,986,958 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03513,034,346 - 13,038,501 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03514,359,355 - 14,363,470 (+)NCBIUU_Cfam_GSD_1.0
Nol7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494611,509,818 - 11,514,513 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936552217,340 - 222,420 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936552217,197 - 221,118 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOL7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl79,971,209 - 9,983,827 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.179,969,483 - 9,978,117 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
NOL7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11758,528,431 - 58,532,563 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1758,528,500 - 58,532,533 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604413,665,438 - 13,679,174 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nol7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475612,673,398 - 12,677,173 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475612,673,328 - 12,677,223 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOL7
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 copy number gain See cases [RCV000051897] Chr6:13093117..22126024 [GRCh38]
Chr6:13093349..22126253 [GRCh37]
Chr6:13201335..22234232 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3 copy number gain See cases [RCV000053340] Chr6:13232395..13805149 [GRCh38]
Chr6:13232627..13805381 [GRCh37]
Chr6:13340606..13913360 [NCBI36]
Chr6:6p24.1-23		 uncertain significance
NM_016167.3(NOL7):c.147G>A (p.Leu49=) single nucleotide variant Malignant melanoma [RCV000067152] Chr6:13615505 [GRCh38]
Chr6:13615737 [GRCh37]
Chr6:13723716 [NCBI36]
Chr6:6p23		 not provided
GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3 copy number gain See cases [RCV000136133] Chr6:13311519..16295560 [GRCh38]
Chr6:13311751..16295791 [GRCh37]
Chr6:13419730..16403770 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.2-23(chr6:10601499-13987316)x1 copy number loss See cases [RCV000142410] Chr6:10601499..13987316 [GRCh38]
Chr6:10601732..13987547 [GRCh37]
Chr6:10709718..14095526 [NCBI36]
Chr6:6p24.2-23		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660)x3 copy number gain See cases [RCV000447409] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708)x1 copy number loss See cases [RCV000448946] Chr6:12924014..15975708 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949) copy number gain Astigmatism [RCV000626536] Chr6:12536624..13968949 [GRCh37]
Chr6:6p24.1-23		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 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 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p23(chr6:13485083-13836706)x3 copy number gain not provided [RCV000745472] Chr6:13485083..13836706 [GRCh37]
Chr6:6p23		 benign
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3 copy number gain not provided [RCV000849796] Chr6:13248587..18083552 [GRCh37]
Chr6:6p24.1-22.3		 uncertain significance
NM_005493.3(RANBP9):c.1864C>A (p.His622Asn) single nucleotide variant not specified [RCV004288803] Chr6:13632453 [GRCh38]
Chr6:13632685 [GRCh37]
Chr6:6p23		 uncertain significance
GRCh37/hg19 6p24.3-22.3(chr6:8269414-17402660) copy number gain not specified [RCV002053552] Chr6:8269414..17402660 [GRCh37]
Chr6:6p24.3-22.3		 likely pathogenic
GRCh37/hg19 6p24.1-22.3(chr6:12924014-15975708) copy number loss not specified [RCV002053555] Chr6:12924014..15975708 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
NM_005493.3(RANBP9):c.1883A>G (p.Gln628Arg) single nucleotide variant not specified [RCV004095116] Chr6:13632434 [GRCh38]
Chr6:13632666 [GRCh37]
Chr6:6p23		 uncertain significance
GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1 copy number loss not provided [RCV002475759] Chr6:12005630..22849647 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_016167.5(NOL7):c.541G>A (p.Asp181Asn) single nucleotide variant not specified [RCV004178049] Chr6:13620248 [GRCh38]
Chr6:13620480 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.88G>A (p.Glu30Lys) single nucleotide variant not specified [RCV004109225] Chr6:13615446 [GRCh38]
Chr6:13615678 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.61G>C (p.Glu21Gln) single nucleotide variant not specified [RCV004215549] Chr6:13615419 [GRCh38]
Chr6:13615651 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.737G>A (p.Arg246Lys) single nucleotide variant not specified [RCV004204028] Chr6:13620790 [GRCh38]
Chr6:13621022 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.2180A>G (p.Tyr727Cys) single nucleotide variant not specified [RCV004069625] Chr6:13622372 [GRCh38]
Chr6:13622604 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.2138G>A (p.Arg713Gln) single nucleotide variant not specified [RCV004219482] Chr6:13622414 [GRCh38]
Chr6:13622646 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.9G>T (p.Gln3His) single nucleotide variant not specified [RCV004347775] Chr6:13615367 [GRCh38]
Chr6:13615599 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.1920G>C (p.Lys640Asn) single nucleotide variant not specified [RCV004353743] Chr6:13632397 [GRCh38]
Chr6:13632629 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.25T>C (p.Ser9Pro) single nucleotide variant not specified [RCV004343661] Chr6:13615383 [GRCh38]
Chr6:13615615 [GRCh37]
Chr6:6p23		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p24.1-22.3(chr6:12872219-17276508)x1 copy number loss not specified [RCV003986623] Chr6:12872219..17276508 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
NM_016167.5(NOL7):c.101G>A (p.Gly34Glu) single nucleotide variant not specified [RCV004487937] Chr6:13615459 [GRCh38]
Chr6:13615691 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.187G>A (p.Ala63Thr) single nucleotide variant not specified [RCV004487938] Chr6:13615545 [GRCh38]
Chr6:13615777 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.425T>C (p.Leu142Ser) single nucleotide variant not specified [RCV004487940] Chr6:13618064 [GRCh38]
Chr6:13618296 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.280C>A (p.Leu94Met) single nucleotide variant not specified [RCV004487939] Chr6:13615725 [GRCh38]
Chr6:13615957 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.2155T>G (p.Cys719Gly) single nucleotide variant not specified [RCV004445853] Chr6:13622397 [GRCh38]
Chr6:13622629 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.2021G>A (p.Arg674Lys) single nucleotide variant not specified [RCV004445852] Chr6:13625691 [GRCh38]
Chr6:13625923 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.248T>G (p.Val83Gly) single nucleotide variant not specified [RCV004647482] Chr6:13615606 [GRCh38]
Chr6:13615838 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.23C>A (p.Ala8Glu) single nucleotide variant not specified [RCV004643904] Chr6:13615381 [GRCh38]
Chr6:13615613 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.581T>C (p.Ile194Thr) single nucleotide variant not specified [RCV004829894] Chr6:13620288 [GRCh38]
Chr6:13620520 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.1888A>G (p.Met630Val) single nucleotide variant not specified [RCV004860349] Chr6:13632429 [GRCh38]
Chr6:13632661 [GRCh37]
Chr6:6p23		 uncertain significance
NM_005493.3(RANBP9):c.1885G>A (p.Ala629Thr) single nucleotide variant not specified [RCV004860352] Chr6:13632432 [GRCh38]
Chr6:13632664 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.16C>A (p.Pro6Thr) single nucleotide variant not specified [RCV004829895] Chr6:13615374 [GRCh38]
Chr6:13615606 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.523G>A (p.Val175Ile) single nucleotide variant not specified [RCV004829892] Chr6:13620230 [GRCh38]
Chr6:13620462 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.648C>G (p.Asn216Lys) single nucleotide variant not specified [RCV004829893] Chr6:13620433 [GRCh38]
Chr6:13620665 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.217C>A (p.Gln73Lys) single nucleotide variant not specified [RCV004829897] Chr6:13615575 [GRCh38]
Chr6:13615807 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.91G>C (p.Ala31Pro) single nucleotide variant not specified [RCV004829898] Chr6:13615449 [GRCh38]
Chr6:13615681 [GRCh37]
Chr6:6p23		 uncertain significance
NM_016167.5(NOL7):c.89A>C (p.Glu30Ala) single nucleotide variant not specified [RCV004829896] Chr6:13615447 [GRCh38]
Chr6:13615679 [GRCh37]
Chr6:6p23		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:327
Count of miRNA genes:297
Interacting mature miRNAs:312
Transcripts:ENST00000420088, ENST00000451315, ENST00000474485
Prediction methods: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
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
1358854MULTSCL4_HMultiple sclerosis susceptibility QTL 4 (human)Multiple sclerosis susceptibility6691196032911960Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
1643377BW325_HBody weight QTL 325 (human)2.320.0005Body fat amount6691196032911960Human
1643569GLUCO21_HGlucose level QTL 21 (human)0.021Glucose levelnon-insulin-dependent6691196032911960Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
1298458BW9_HBody weight QTL 9 (human)2.70.0002Body fat amount6691196032911960Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human
1643399BMD5_HBone mineral density QTL 5 (human)2.320.0005Bone mineral density6691196032911960Human

Markers in Region
RH46758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,614,507 - 13,614,666UniSTSGRCh37
Build 36613,722,486 - 13,722,645RGDNCBI36
Celera614,854,002 - 14,854,161RGD
Cytogenetic Map6p23UniSTS
HuRef613,558,883 - 13,559,042UniSTS
GeneMap99-GB4 RH Map647.84UniSTS
NCBI RH Map6114.4UniSTS
WI-14668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,614,624 - 13,614,773UniSTSGRCh37
Build 36613,722,603 - 13,722,752RGDNCBI36
Celera614,854,119 - 14,854,268RGD
Cytogenetic Map6p23UniSTS
HuRef613,559,000 - 13,559,149UniSTS
GeneMap99-GB4 RH Map647.73UniSTS
Whitehead-RH Map667.6UniSTS
NCBI RH Map6114.4UniSTS
D6S1223E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,620,497 - 13,621,032UniSTSGRCh37
Build 36613,728,476 - 13,729,011RGDNCBI36
Celera614,859,992 - 14,860,527RGD
Cytogenetic Map6p23UniSTS
HuRef613,564,873 - 13,565,408UniSTS
D6S1861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,621,230 - 13,621,413UniSTSGRCh37
Build 36613,729,209 - 13,729,392RGDNCBI36
Celera614,860,725 - 14,860,908RGD
HuRef613,565,606 - 13,565,789UniSTS
GeneMap99-GB4 RH Map651.47UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map6114.4UniSTS
GeneMap99-G3 RH Map6953.0UniSTS
G30503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,615,786 - 13,615,918UniSTSGRCh37
Build 36613,723,765 - 13,723,897RGDNCBI36
Celera614,855,281 - 14,855,413RGD
Cytogenetic Map6p23UniSTS
HuRef613,560,162 - 13,560,294UniSTS
EST8F3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37613,620,473 - 13,621,018UniSTSGRCh37
Build 36613,728,452 - 13,728,997RGDNCBI36
Celera614,859,968 - 14,860,513RGD
HuRef613,564,849 - 13,565,394UniSTS
D6S1861  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p23UniSTS


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
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000420088   ⟹   ENSP00000404836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,615,547 - 13,618,217 (+)Ensembl
Ensembl Acc Id: ENST00000451315   ⟹   ENSP00000405674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,615,335 - 13,621,712 (+)Ensembl
Ensembl Acc Id: ENST00000474485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl613,615,589 - 13,632,739 (+)Ensembl
RefSeq Acc Id: NM_001317724   ⟹   NP_001304653
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38613,615,335 - 13,632,470 (+)NCBI
CHM1_1613,617,926 - 13,635,067 (+)NCBI
T2T-CHM13v2.0613,488,892 - 13,506,009 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016167   ⟹   NP_057251
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38613,615,335 - 13,621,712 (+)NCBI
GRCh37613,612,531 - 13,633,089 (+)NCBI
Build 36613,723,538 - 13,729,106 (+)NCBI Archive
Celera614,855,054 - 14,860,622 (+)RGD
HuRef613,559,935 - 13,565,503 (+)RGD
CHM1_1613,617,926 - 13,624,311 (+)NCBI
T2T-CHM13v2.0613,488,892 - 13,495,269 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057251   ⟸   NM_016167
- UniProtKB: Q5T297 (UniProtKB/Swiss-Prot),   Q9Y3U7 (UniProtKB/Swiss-Prot),   Q9UMY1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001304653   ⟸   NM_001317724
- UniProtKB: Q5T297 (UniProtKB/Swiss-Prot),   Q9Y3U7 (UniProtKB/Swiss-Prot),   Q9UMY1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000405674   ⟸   ENST00000451315
Ensembl Acc Id: ENSP00000404836   ⟸   ENST00000420088

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UMY1-F1-model_v2 AlphaFold Q9UMY1 1-257 view protein structure

Promoters
RGD ID:6872088
Promoter ID:EPDNEW_H9209
Type:initiation region
Name:NOL7_1
Description:nucleolar protein 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38613,615,339 - 13,615,399EPDNEW
RGD ID:6804496
Promoter ID:HG_KWN:52375
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000039904,   OTTHUMT00000039905,   OTTHUMT00000039906
Position:
Human AssemblyChrPosition (strand)Source
Build 36613,722,821 - 13,723,597 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21040 AgrOrtholog
COSMIC NOL7 COSMIC
Ensembl Genes ENSG00000225921 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000420088.1 UniProtKB/TrEMBL
  ENST00000451315 ENTREZGENE
  ENST00000451315.7 UniProtKB/Swiss-Prot
GTEx ENSG00000225921 GTEx
HGNC ID HGNC:21040 ENTREZGENE
Human Proteome Map NOL7 Human Proteome Map
InterPro NOL7_C UniProtKB/Swiss-Prot
KEGG Report hsa:51406 UniProtKB/Swiss-Prot
NCBI Gene 51406 ENTREZGENE
OMIM 611533 OMIM
PANTHER NUCLEOLAR PROTEIN 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR32337 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NUC129 UniProtKB/Swiss-Prot
PharmGKB PA134881915 PharmGKB
UniProt H7C2B1_HUMAN UniProtKB/TrEMBL
  NOL7_HUMAN UniProtKB/Swiss-Prot
  Q5T297 ENTREZGENE
  Q9UMY1 ENTREZGENE
  Q9Y3U7 ENTREZGENE
UniProt Secondary Q5T297 UniProtKB/Swiss-Prot
  Q9Y3U7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 NOL7  nucleolar protein 7  PQBP3  polyglutamine binding protein 3  Data merged from RGD:1353360 737654 PROVISIONAL
2015-11-17 NOL7  nucleolar protein 7    nucleolar protein 7, 27kDa  Symbol and/or name change 5135510 APPROVED