NOL6 (nucleolar protein 6) - Rat Genome Database

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Pathways
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Gene: NOL6 (nucleolar protein 6) Homo sapiens
Analyze
Symbol: NOL6
Name: nucleolar protein 6
RGD ID: 1317567
HGNC Page HGNC:19910
Description: Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in mitochondrion; nucleolus; and nucleoplasm. Part of small-subunit processome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: bA311H10.1; FLJ21959; MGC14896; MGC14921; MGC20838; NRAP; nucleolar protein 6 (RNA-associated); nucleolar protein family 6 (RNA-associated); nucleolar RNA-associated protein; UTP22
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
GRCh38933,461,353 - 33,473,924 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,461,353 - 33,473,930 (-)EnsemblGRCh38hg38GRCh38
GRCh37933,461,351 - 33,473,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,451,351 - 33,463,941 (-)NCBINCBI36Build 36hg18NCBI36
Build 34933,451,351 - 33,463,941NCBI
Celera933,391,458 - 33,404,047 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef933,417,486 - 33,430,062 (-)NCBIHuRef
CHM1_1933,461,135 - 33,473,725 (-)NCBICHM1_1
T2T-CHM13v2.0933,479,851 - 33,492,421 (-)NCBIT2T-CHM13v2.0
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
chromosome  (IEA)
condensed nuclear chromosome  (IEA,ISS)
CURI complex  (IBA,IEA)
mitochondrion  (IDA)
nucleolus  (IDA,IEA,ISS)
nucleoplasm  (IDA,TAS)
nucleus  (IEA)
small-subunit processome  (IBA,IDA,IEA)
UTP-C complex  (IBA,IEA)

Molecular Function
protein binding  (IPI)
RNA binding  (HDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11790298   PMID:11895476   PMID:12429849   PMID:12477932   PMID:14702039   PMID:15164053   PMID:15489334   PMID:15590835   PMID:15635413   PMID:16565220   PMID:19596686   PMID:19615732  
PMID:21873635   PMID:22586326   PMID:22658674   PMID:24457600   PMID:24711643   PMID:24778252   PMID:25315684   PMID:25416956   PMID:25665578   PMID:25693804   PMID:26186194   PMID:26344197  
PMID:26471122   PMID:26496610   PMID:27634302   PMID:27926873   PMID:28065597   PMID:28302793   PMID:28431233   PMID:28514442   PMID:28695742   PMID:28977666   PMID:29180619   PMID:29467282  
PMID:29478914   PMID:29540532   PMID:29568061   PMID:29844126   PMID:29911972   PMID:29955894   PMID:30021884   PMID:30209976   PMID:30463901   PMID:30554943   PMID:30561431   PMID:30833792  
PMID:30945288   PMID:30948266   PMID:31091453   PMID:31180492   PMID:31182584   PMID:31363146   PMID:31527615   PMID:31586073   PMID:31871319   PMID:32239614   PMID:32433965   PMID:32814053  
PMID:33060197   PMID:33199730   PMID:33226137   PMID:33729478   PMID:33961781   PMID:34079125   PMID:34237211   PMID:34244565   PMID:34373451   PMID:34516797   PMID:34561331   PMID:34607487  
PMID:34662580   PMID:34901782   PMID:35013218   PMID:35013556   PMID:35439318   PMID:35844135   PMID:35850772   PMID:35906200   PMID:36114006   PMID:36215168   PMID:36244648   PMID:36373674  
PMID:36424410   PMID:36526897   PMID:36574265   PMID:36724073   PMID:36912080   PMID:37689310   PMID:37827155   PMID:38113892   PMID:38172120  


Genomics

Comparative Map Data
NOL6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38933,461,353 - 33,473,924 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl933,461,353 - 33,473,930 (-)EnsemblGRCh38hg38GRCh38
GRCh37933,461,351 - 33,473,922 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36933,451,351 - 33,463,941 (-)NCBINCBI36Build 36hg18NCBI36
Build 34933,451,351 - 33,463,941NCBI
Celera933,391,458 - 33,404,047 (-)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef933,417,486 - 33,430,062 (-)NCBIHuRef
CHM1_1933,461,135 - 33,473,725 (-)NCBICHM1_1
T2T-CHM13v2.0933,479,851 - 33,492,421 (-)NCBIT2T-CHM13v2.0
Nol6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39441,114,427 - 41,124,450 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl441,114,427 - 41,124,455 (-)EnsemblGRCm39 Ensembl
GRCm38441,114,427 - 41,124,339 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl441,114,427 - 41,124,455 (-)EnsemblGRCm38mm10GRCm38
MGSCv37441,061,460 - 41,071,372 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36441,303,098 - 41,312,959 (-)NCBIMGSCv36mm8
Celera440,775,363 - 40,785,297 (-)NCBICelera
Cytogenetic Map4A5NCBI
cM Map420.98NCBI
Nol6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8561,055,863 - 61,083,249 (-)NCBIGRCr8
mRatBN7.2556,259,919 - 56,270,540 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl556,260,830 - 56,270,336 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0557,444,448 - 57,473,803 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl557,445,344 - 57,455,018 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0561,975,270 - 61,985,860 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4558,523,391 - 58,533,113 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1558,524,509 - 58,533,044 (-)NCBI
Celera554,857,309 - 54,885,360 (-)NCBICelera
Cytogenetic Map5q22NCBI
Nol6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554722,211,079 - 2,224,259 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554722,210,490 - 2,225,275 (+)NCBIChiLan1.0ChiLan1.0
NOL6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21191,090,325 - 91,139,600 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1991,096,280 - 91,145,542 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0933,242,163 - 33,291,503 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1934,053,100 - 34,100,854 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl934,053,100 - 34,100,854 (-)Ensemblpanpan1.1panPan2
NOL6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11150,533,150 - 50,544,770 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1150,533,453 - 50,545,094 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1149,163,070 - 49,174,913 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01151,473,823 - 51,485,663 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1151,472,882 - 51,485,431 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11150,137,783 - 50,149,610 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01150,004,897 - 50,016,740 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01150,770,150 - 50,782,005 (-)NCBIUU_Cfam_GSD_1.0
Nol6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947165,434,252 - 165,449,982 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365241,982,898 - 1,997,054 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365241,981,832 - 1,997,153 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOL6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1033,022,035 - 33,035,200 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11033,022,035 - 33,035,201 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21037,284,318 - 37,297,446 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NOL6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11246,791,704 - 46,804,091 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1246,791,725 - 46,805,338 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603843,680,804 - 43,693,327 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nol6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473638,212,437 - 38,227,288 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473638,211,389 - 38,236,793 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOL6
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p23-13.3(chr9:13526091-34261642)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053750]|See cases [RCV000053750] Chr9:13526091..34261642 [GRCh38]
Chr9:13526090..34261640 [GRCh37]
Chr9:13516090..34251640 [NCBI36]
Chr9:9p23-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11		 pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1		 likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3 copy number gain See cases [RCV000510986] Chr9:17132123..35567051 [GRCh37]
Chr9:9p22.2-13.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.3(chr9:32912345-33564154)x3 copy number gain not provided [RCV000748375] Chr9:32912345..33564154 [GRCh37]
Chr9:9p21.1-13.3		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33		 likely pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2		 likely pathogenic
NC_000009.11:g.(?_32399559)_(33541225_?)dup duplication not provided [RCV001324921] Chr9:32399559..33541225 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33		 likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_32453279)_(35068379_?)dup duplication Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109611] Chr9:32453279..35068379 [GRCh37]
Chr9:9p21.1-13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_022917.5(NOL6):c.3019A>G (p.Ile1007Val) single nucleotide variant not specified [RCV004113883] Chr9:33463417 [GRCh38]
Chr9:33463415 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.2167C>T (p.Arg723Trp) single nucleotide variant not specified [RCV004127814] Chr9:33466350 [GRCh38]
Chr9:33466348 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.1985C>T (p.Ala662Val) single nucleotide variant not specified [RCV004192907] Chr9:33466675 [GRCh38]
Chr9:33466673 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.886C>T (p.Arg296Cys) single nucleotide variant not specified [RCV004203046] Chr9:33469098 [GRCh38]
Chr9:33469096 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.1511C>T (p.Ser504Leu) single nucleotide variant not specified [RCV004117486] Chr9:33467782 [GRCh38]
Chr9:33467780 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.2143C>T (p.Arg715Trp) single nucleotide variant not specified [RCV004228031] Chr9:33466374 [GRCh38]
Chr9:33466372 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.2168G>A (p.Arg723Gln) single nucleotide variant not specified [RCV004209563] Chr9:33466349 [GRCh38]
Chr9:33466347 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.1007G>A (p.Arg336Gln) single nucleotide variant not specified [RCV004125644] Chr9:33468977 [GRCh38]
Chr9:33468975 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.2330G>T (p.Cys777Phe) single nucleotide variant not specified [RCV004108887] Chr9:33466105 [GRCh38]
Chr9:33466103 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
NM_022917.5(NOL6):c.2124C>T (p.Phe708=) single nucleotide variant not provided [RCV003435752] Chr9:33466393 [GRCh38]
Chr9:33466391 [GRCh37]
Chr9:9p13.3		 likely benign
NM_022917.5(NOL6):c.2291G>A (p.Arg764His) single nucleotide variant not provided [RCV003435751] Chr9:33466144 [GRCh38]
Chr9:33466142 [GRCh37]
Chr9:9p13.3		 likely benign
NM_022917.5(NOL6):c.2856C>A (p.Pro952=) single nucleotide variant not provided [RCV003435750] Chr9:33464085 [GRCh38]
Chr9:33464083 [GRCh37]
Chr9:9p13.3		 likely benign
NM_022917.5(NOL6):c.1760C>T (p.Ser587Leu) single nucleotide variant not specified [RCV004487935] Chr9:33467228 [GRCh38]
Chr9:33467226 [GRCh37]
Chr9:9p13.3		 uncertain significance
NM_022917.5(NOL6):c.2345C>T (p.Thr782Met) single nucleotide variant not specified [RCV004487936] Chr9:33466090 [GRCh38]
Chr9:33466088 [GRCh37]
Chr9:9p13.3		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3354
Count of miRNA genes:716
Interacting mature miRNAs:815
Transcripts:ENST00000297990, ENST00000353159, ENST00000379470, ENST00000379471, ENST00000455041, ENST00000464829, ENST00000496319
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
STS-AA004501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37933,461,620 - 33,461,812UniSTSGRCh37
Build 36933,451,620 - 33,451,812RGDNCBI36
Celera933,391,727 - 33,391,919RGD
Cytogenetic Map9p13.3UniSTS
HuRef933,417,755 - 33,417,947UniSTS
GeneMap99-GB4 RH Map9136.54UniSTS
NCBI RH Map9425.4UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2156 1524 1469 378 1236 230 4110 1621 2310 289 1441 1596 162 1153 2555 5 2
Low 283 1463 257 246 711 235 247 576 1424 130 19 17 13 1 51 233 1
Below cutoff 4 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_022917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_139235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF361079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF361080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF361081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB267269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297990   ⟹   ENSP00000297990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,461,353 - 33,473,924 (-)Ensembl
RefSeq Acc Id: ENST00000353159   ⟹   ENSP00000313978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,461,441 - 33,473,930 (-)Ensembl
RefSeq Acc Id: ENST00000379470   ⟹   ENSP00000368783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,461,452 - 33,465,194 (-)Ensembl
RefSeq Acc Id: ENST00000379471   ⟹   ENSP00000368784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,461,452 - 33,473,930 (-)Ensembl
RefSeq Acc Id: ENST00000464829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,462,114 - 33,473,902 (-)Ensembl
RefSeq Acc Id: ENST00000496319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl933,470,416 - 33,472,681 (-)Ensembl
RefSeq Acc Id: NM_022917   ⟹   NP_075068
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,461,353 - 33,473,924 (-)NCBI
GRCh37933,461,351 - 33,473,941 (-)RGD
Build 36933,451,351 - 33,463,941 (-)NCBI Archive
Celera933,391,458 - 33,404,047 (-)RGD
HuRef933,417,486 - 33,430,062 (-)ENTREZGENE
CHM1_1933,461,135 - 33,473,725 (-)NCBI
T2T-CHM13v2.0933,479,851 - 33,492,421 (-)NCBI
Sequence:
RefSeq Acc Id: NM_139235   ⟹   NP_631981
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,461,353 - 33,473,924 (-)NCBI
GRCh37933,461,351 - 33,473,941 (-)RGD
Build 36933,451,351 - 33,463,941 (-)NCBI Archive
Celera933,391,458 - 33,404,047 (-)RGD
HuRef933,417,486 - 33,430,062 (-)ENTREZGENE
CHM1_1933,461,135 - 33,473,725 (-)NCBI
T2T-CHM13v2.0933,479,851 - 33,492,421 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423740   ⟹   XP_047279696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38933,461,353 - 33,472,737 (-)NCBI
RefSeq Acc Id: XM_054363572   ⟹   XP_054219547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0933,479,851 - 33,491,234 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_075068   ⟸   NM_022917
- Peptide Label: isoform alpha
- UniProtKB: Q8TEZ1 (UniProtKB/Swiss-Prot),   Q8TEZ0 (UniProtKB/Swiss-Prot),   Q8TEY9 (UniProtKB/Swiss-Prot),   Q8N6I0 (UniProtKB/Swiss-Prot),   Q7L4G6 (UniProtKB/Swiss-Prot),   Q5T5M4 (UniProtKB/Swiss-Prot),   Q5T5M3 (UniProtKB/Swiss-Prot),   Q9H675 (UniProtKB/Swiss-Prot),   Q9H6R4 (UniProtKB/Swiss-Prot),   B4DF80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_631981   ⟸   NM_139235
- Peptide Label: isoform gamma
- UniProtKB: Q9H6R4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000297990   ⟸   ENST00000297990
RefSeq Acc Id: ENSP00000368783   ⟸   ENST00000379470
RefSeq Acc Id: ENSP00000368784   ⟸   ENST00000379471
RefSeq Acc Id: ENSP00000313978   ⟸   ENST00000353159
RefSeq Acc Id: XP_047279696   ⟸   XM_047423740
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219547   ⟸   XM_054363572
- Peptide Label: isoform X1
Protein Domains
Nrap protein

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H6R4-F1-model_v2 AlphaFold Q9H6R4 1-1146 view protein structure

Promoters
RGD ID:6807920
Promoter ID:HG_KWN:62927
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:UC003ZSY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,454,756 - 33,456,177 (-)MPROMDB
RGD ID:6815662
Promoter ID:HG_MRA:16310
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AK025612
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,456,636 - 33,457,136 (-)MPROMDB
RGD ID:6807919
Promoter ID:HG_KWN:62928
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:OTTHUMT00000001017
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,463,241 - 33,463,741 (-)MPROMDB
RGD ID:6807924
Promoter ID:HG_KWN:62929
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:ENST00000325914,   NM_022917,   NM_139235,   OTTHUMT00000001015,   UC003ZTB.1,   UC010MJV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36933,463,749 - 33,464,249 (-)MPROMDB
RGD ID:7214889
Promoter ID:EPDNEW_H13190
Type:initiation region
Name:NOL6_1
Description:nucleolar protein 6
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
GRCh38933,473,898 - 33,473,958EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19910 AgrOrtholog
COSMIC NOL6 COSMIC
Ensembl Genes ENSG00000165271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000297990 ENTREZGENE
  ENST00000297990.9 UniProtKB/Swiss-Prot
  ENST00000353159 ENTREZGENE
  ENST00000353159.6 UniProtKB/Swiss-Prot
  ENST00000379470.5 UniProtKB/TrEMBL
  ENST00000379471.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1410.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.3030 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000165271 GTEx
HGNC ID HGNC:19910 ENTREZGENE
Human Proteome Map NOL6 Human Proteome Map
InterPro NOL6/Upt22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:65083 UniProtKB/Swiss-Prot
NCBI Gene 65083 ENTREZGENE
OMIM 611532 OMIM
PANTHER NUCLEOLAR PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR17972 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Nrap UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nrap_D6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134979388 PharmGKB
UniProt A0A0A0MRW6_HUMAN UniProtKB/TrEMBL
  A0A0C4DFX0_HUMAN UniProtKB/TrEMBL
  B4DF80 ENTREZGENE, UniProtKB/TrEMBL
  NOL6_HUMAN UniProtKB/Swiss-Prot
  Q5T5M3 ENTREZGENE
  Q5T5M4 ENTREZGENE
  Q7L4G6 ENTREZGENE
  Q8N6I0 ENTREZGENE
  Q8TEY9 ENTREZGENE
  Q8TEZ0 ENTREZGENE
  Q8TEZ1 ENTREZGENE
  Q9H675 ENTREZGENE
  Q9H6R4 ENTREZGENE
UniProt Secondary Q5T5M3 UniProtKB/Swiss-Prot
  Q5T5M4 UniProtKB/Swiss-Prot
  Q7L4G6 UniProtKB/Swiss-Prot
  Q8N6I0 UniProtKB/Swiss-Prot
  Q8TEY9 UniProtKB/Swiss-Prot
  Q8TEZ0 UniProtKB/Swiss-Prot
  Q8TEZ1 UniProtKB/Swiss-Prot
  Q9H675 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 NOL6  nucleolar protein 6  NOL6  nucleolar protein 6 (RNA-associated)  Symbol and/or name change 5135510 APPROVED
2013-02-27 NOL6  nucleolar protein 6 (RNA-associated)  NOL6  nucleolar protein family 6 (RNA-associated)  Symbol and/or name change 5135510 APPROVED