LEO1 (LEO1 homolog, Paf1/RNA polymerase II complex component) - Rat Genome Database

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Gene: LEO1 (LEO1 homolog, Paf1/RNA polymerase II complex component) Homo sapiens
Analyze
Symbol: LEO1
Name: LEO1 homolog, Paf1/RNA polymerase II complex component
RGD ID: 1602075
HGNC Page HGNC:30401
Description: Predicted to enable RNA polymerase II C-terminal domain phosphoserine binding activity. Involved in several processes, including RNA metabolic process; negative regulation of myeloid cell differentiation; and positive regulation of transcription by RNA polymerase II. Located in centrosome; fibrillar center; and nucleoplasm. Part of Cdc73/Paf1 complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: Leo1 Paf1/RNA polymerase II complex component; Leo1, Paf1/RNA polymerase II complex component, homolog; RDL; replicative senescence down-regulated leo1-like protein; replicative senescence downregulated leo1-like; RNA polymerase-associated protein LEO1; senescence downregulated leo1-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100422556  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381551,938,025 - 51,971,778 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1551,938,025 - 51,971,778 (-)EnsemblGRCh38hg38GRCh38
GRCh371552,230,222 - 52,263,975 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361550,017,514 - 50,051,250 (-)NCBINCBI36Build 36hg18NCBI36
Celera1529,123,636 - 29,157,376 (-)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1529,060,926 - 29,094,625 (-)NCBIHuRef
CHM1_11552,348,273 - 52,382,009 (-)NCBICHM1_1
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
Cdc73/Paf1 complex  (IDA,IEA)
centrosome  (IDA)
fibrillar center  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. The Paf1 complex: platform or player in RNA polymerase II transcription? Jaehning JA Biochim Biophys Acta. 2010 May-Jun;1799(5-6):379-88. doi: 10.1016/j.bbagrm.2010.01.001. Epub 2010 Jan 12.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:15632063   PMID:15791002   PMID:15923622   PMID:16024656   PMID:16307923   PMID:16630820   PMID:16964243   PMID:17081983  
PMID:17620599   PMID:18029348   PMID:18469135   PMID:18987311   PMID:19136632   PMID:19345177   PMID:19410543   PMID:20178742   PMID:20196086   PMID:20305087   PMID:20541477   PMID:21329879  
PMID:21406692   PMID:21726809   PMID:21873635   PMID:22113938   PMID:22451921   PMID:22532828   PMID:22863883   PMID:22939629   PMID:23667531   PMID:23891004   PMID:24038468   PMID:24360965  
PMID:24686170   PMID:24981860   PMID:25416956   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26673895   PMID:27173435   PMID:27880917   PMID:28514442   PMID:28515276  
PMID:28524877   PMID:28675297   PMID:28977666   PMID:29395067   PMID:29774127   PMID:29845934   PMID:30033366   PMID:30305722   PMID:30344098   PMID:30804502   PMID:30884312   PMID:30890647  
PMID:31076518   PMID:31253590   PMID:31615875   PMID:31722399   PMID:31980649   PMID:32296183   PMID:32416067   PMID:32707033   PMID:33298525   PMID:33742100   PMID:33961781   PMID:34079125  
PMID:34096589   PMID:34108663   PMID:34349018   PMID:35235311   PMID:35241646   PMID:35271311   PMID:35575683   PMID:35831314   PMID:35914814   PMID:35938192   PMID:35944360   PMID:36215168  
PMID:36736316   PMID:37205756   PMID:37689310   PMID:37696373   PMID:38002344   PMID:38113892   PMID:38580884   PMID:38777146  


Genomics

Comparative Map Data
LEO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381551,938,025 - 51,971,778 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1551,938,025 - 51,971,778 (-)EnsemblGRCh38hg38GRCh38
GRCh371552,230,222 - 52,263,975 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361550,017,514 - 50,051,250 (-)NCBINCBI36Build 36hg18NCBI36
Celera1529,123,636 - 29,157,376 (-)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1529,060,926 - 29,094,625 (-)NCBIHuRef
CHM1_11552,348,273 - 52,382,009 (-)NCBICHM1_1
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBIT2T-CHM13v2.0
Leo1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39975,348,072 - 75,373,714 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl975,348,806 - 75,373,714 (+)EnsemblGRCm39 Ensembl
GRCm38975,441,015 - 75,466,432 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl975,441,524 - 75,466,432 (+)EnsemblGRCm38mm10GRCm38
MGSCv37975,289,331 - 75,314,239 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36975,227,433 - 75,252,341 (+)NCBIMGSCv36mm8
Celera972,601,044 - 72,627,947 (+)NCBICelera
Cytogenetic Map9DNCBI
cM Map942.3NCBI
Leo1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8885,080,036 - 85,104,471 (+)NCBIGRCr8
mRatBN7.2876,199,547 - 76,223,983 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl876,199,099 - 76,223,983 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx881,707,258 - 81,731,486 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0879,972,106 - 79,996,459 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0877,806,592 - 77,830,820 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0882,380,906 - 82,405,293 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl882,380,757 - 82,405,644 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0881,983,993 - 82,008,379 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4880,266,160 - 80,290,547 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera875,989,197 - 76,013,584 (+)NCBICelera
Cytogenetic Map8q24NCBI
Leo1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554092,711,564 - 2,727,755 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554092,711,475 - 2,727,879 (+)NCBIChiLan1.0ChiLan1.0
LEO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21641,174,737 - 41,208,587 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11545,355,217 - 45,389,066 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01530,879,431 - 30,913,361 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11549,208,132 - 49,241,054 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1549,208,132 - 49,241,055 (-)Ensemblpanpan1.1panPan2
LEO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13017,614,502 - 17,651,715 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3017,598,076 - 17,651,290 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3017,541,113 - 17,578,528 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03017,760,917 - 17,798,265 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3017,744,183 - 17,799,470 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13017,682,358 - 17,719,762 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03017,800,296 - 17,837,557 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03017,906,850 - 17,943,999 (-)NCBIUU_Cfam_GSD_1.0
Leo1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864095,904,998 - 95,935,951 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647113,753,030 - 13,784,049 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647113,753,061 - 13,783,990 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LEO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1119,805,006 - 119,859,434 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11119,804,992 - 119,842,343 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21132,895,440 - 132,932,785 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LEO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12631,405,019 - 31,444,350 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2631,404,537 - 31,445,198 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048109,782,132 - 109,821,268 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Leo1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247318,467,877 - 8,485,851 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247318,467,914 - 8,485,978 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LEO1
45 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] Chr15:48695331..53923002 [GRCh38]
Chr15:48987528..54215199 [GRCh37]
Chr15:46774820..52002491 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1 copy number loss See cases [RCV000051621] Chr15:50864913..59646577 [GRCh38]
Chr15:51157110..59938776 [GRCh37]
Chr15:48944402..57726068 [NCBI36]
Chr15:15q21.2-22.2		 pathogenic
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2		 pathogenic
GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1 copy number loss See cases [RCV000136661] Chr15:51276690..57088386 [GRCh38]
Chr15:51568887..57380584 [GRCh37]
Chr15:49356179..55167876 [NCBI36]
Chr15:15q21.2-21.3		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:52065997-52296021)x3 copy number gain See cases [RCV000447125] Chr15:52065997..52296021 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_138792.4(LEO1):c.600G>C (p.Glu200Asp) single nucleotide variant not specified [RCV004292037] Chr15:51965963 [GRCh38]
Chr15:52258160 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3		 pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:52247897-52335721)x1 copy number loss not provided [RCV000683693] Chr15:52247897..52335721 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:52176644-52305464)x1 copy number loss not provided [RCV000751303] Chr15:52176644..52305464 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.2(chr15:52257874-52273132)x1 copy number loss not provided [RCV000751304] Chr15:52257874..52273132 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.2(chr15:52263265-52273132)x1 copy number loss not provided [RCV000751305] Chr15:52263265..52273132 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.2(chr15:52263265-52285111)x1 copy number loss not provided [RCV000751306] Chr15:52263265..52285111 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_138792.4(LEO1):c.1688G>A (p.Arg563Gln) single nucleotide variant not specified [RCV004304060] Chr15:51949918 [GRCh38]
Chr15:52242115 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 copy number loss not provided [RCV000848123] Chr15:50083229..53439931 [GRCh37]
Chr15:15q21.2-21.3		 uncertain significance
GRCh37/hg19 15q21.2(chr15:52208502-52263039)x1 copy number loss not provided [RCV000846890] Chr15:52208502..52263039 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:51735136-52620104)x1 copy number loss not provided [RCV000849163] Chr15:51735136..52620104 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NC_000015.9:g.(?_50999997)_(54025330_?)del deletion Spastic paraplegia [RCV003105621]|not provided [RCV003105622] Chr15:50999997..54025330 [GRCh37]
Chr15:15q21.2-21.3		 pathogenic|no classifications from unflagged records
NC_000015.9:g.(?_50731271)_(54025330_?)dup duplication not provided [RCV003105626] Chr15:50731271..54025330 [GRCh37]
Chr15:15q21.2-21.3		 uncertain significance
GRCh37/hg19 15q21.2(chr15:52198882-52573715)x4 copy number gain not provided [RCV001259214] Chr15:52198882..52573715 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2-21.3(chr15:51792729-55134365)x1 copy number loss not provided [RCV001259215] Chr15:51792729..55134365 [GRCh37]
Chr15:15q21.2-21.3		 likely pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 copy number loss not provided [RCV001270659] Chr15:48744917..53851050 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908) copy number loss not specified [RCV002052472] Chr15:47635238..56509908 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:52065997-52296021) copy number gain not specified [RCV002052476] Chr15:52065997..52296021 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1274G>C (p.Arg425Pro) single nucleotide variant not specified [RCV004316012] Chr15:51954547 [GRCh38]
Chr15:52246744 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.332A>T (p.Glu111Val) single nucleotide variant not specified [RCV004296847] Chr15:51966231 [GRCh38]
Chr15:52258428 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_138792.4(LEO1):c.190G>T (p.Asp64Tyr) single nucleotide variant LEO1-related disorder [RCV003963772]|not specified [RCV004202561] Chr15:51966373 [GRCh38]
Chr15:52258570 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_138792.4(LEO1):c.1567A>G (p.Met523Val) single nucleotide variant not specified [RCV004097514] Chr15:51951888 [GRCh38]
Chr15:52244085 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1661G>A (p.Arg554His) single nucleotide variant not specified [RCV004098928] Chr15:51949945 [GRCh38]
Chr15:52242142 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.542A>G (p.Asp181Gly) single nucleotide variant not specified [RCV004119376] Chr15:51966021 [GRCh38]
Chr15:52258218 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.647G>T (p.Arg216Leu) single nucleotide variant not specified [RCV004177435] Chr15:51965916 [GRCh38]
Chr15:52258113 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.646C>T (p.Arg216Trp) single nucleotide variant not specified [RCV004132080] Chr15:51965917 [GRCh38]
Chr15:52258114 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1090A>G (p.Lys364Glu) single nucleotide variant not specified [RCV004156746] Chr15:51959969 [GRCh38]
Chr15:52252166 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.642T>G (p.Asp214Glu) single nucleotide variant not specified [RCV004073619] Chr15:51965921 [GRCh38]
Chr15:52258118 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.540C>G (p.Asp180Glu) single nucleotide variant not specified [RCV004190203] Chr15:51966023 [GRCh38]
Chr15:52258220 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1277G>A (p.Arg426Gln) single nucleotide variant not specified [RCV004100122] Chr15:51954544 [GRCh38]
Chr15:52246741 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.764A>G (p.Asp255Gly) single nucleotide variant not specified [RCV004186435] Chr15:51965799 [GRCh38]
Chr15:52257996 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1936G>A (p.Asp646Asn) single nucleotide variant not specified [RCV004106078] Chr15:51938221 [GRCh38]
Chr15:52230418 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.277C>T (p.Arg93Cys) single nucleotide variant not specified [RCV004325099] Chr15:51966286 [GRCh38]
Chr15:52258483 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.808A>G (p.Lys270Glu) single nucleotide variant not specified [RCV004279446] Chr15:51965755 [GRCh38]
Chr15:52257952 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1845A>C (p.Glu615Asp) single nucleotide variant not specified [RCV004257304] Chr15:51947343 [GRCh38]
Chr15:52239540 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1346C>T (p.Ser449Phe) single nucleotide variant not specified [RCV004290264] Chr15:51953258 [GRCh38]
Chr15:52245455 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1258A>G (p.Ile420Val) single nucleotide variant not specified [RCV004314313] Chr15:51954563 [GRCh38]
Chr15:52246760 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.152G>A (p.Gly51Asp) single nucleotide variant not specified [RCV004349527] Chr15:51966411 [GRCh38]
Chr15:52258608 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.961A>G (p.Ile321Val) single nucleotide variant not specified [RCV004361555] Chr15:51960692 [GRCh38]
Chr15:52252889 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.278G>T (p.Arg93Leu) single nucleotide variant not specified [RCV004338421] Chr15:51966285 [GRCh38]
Chr15:52258482 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1113C>A (p.Asn371Lys) single nucleotide variant not specified [RCV004358467] Chr15:51959946 [GRCh38]
Chr15:52252143 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.668dup (p.Asp223fs) duplication LEO1-related disorder [RCV003403053] Chr15:51965894..51965895 [GRCh38]
Chr15:52258091..52258092 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1 copy number loss not provided [RCV003483230] Chr15:49390592..56800964 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:51542162-52273119)x3 copy number gain not provided [RCV003485067] Chr15:51542162..52273119 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1721G>A (p.Arg574Gln) single nucleotide variant LEO1-related disorder [RCV003405977] Chr15:51949885 [GRCh38]
Chr15:52242082 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1139A>G (p.Asn380Ser) single nucleotide variant LEO1-related disorder [RCV003419151] Chr15:51959920 [GRCh38]
Chr15:52252117 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1929A>T (p.Glu643Asp) single nucleotide variant not provided [RCV003488004] Chr15:51938228 [GRCh38]
Chr15:52230425 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1113C>T (p.Asn371=) single nucleotide variant LEO1-related disorder [RCV003941512] Chr15:51959946 [GRCh38]
Chr15:52252143 [GRCh37]
Chr15:15q21.2		 likely benign
NM_138792.4(LEO1):c.823A>G (p.Arg275Gly) single nucleotide variant LEO1-related disorder [RCV003982505] Chr15:51962485 [GRCh38]
Chr15:52254682 [GRCh37]
Chr15:15q21.2		 benign
NM_138792.4(LEO1):c.894G>A (p.Ala298=) single nucleotide variant LEO1-related disorder [RCV003962031] Chr15:51962414 [GRCh38]
Chr15:52254611 [GRCh37]
Chr15:15q21.2		 likely benign
NM_138792.4(LEO1):c.1897-3305G>T single nucleotide variant LEO1-related disorder [RCV003959006] Chr15:51941565 [GRCh38]
Chr15:52233762 [GRCh37]
Chr15:15q21.2		 likely benign
NM_138792.4(LEO1):c.1989A>T (p.Glu663Asp) single nucleotide variant LEO1-related disorder [RCV003941823] Chr15:51938168 [GRCh38]
Chr15:52230365 [GRCh37]
Chr15:15q21.2		 likely benign
NM_138792.4(LEO1):c.1827C>T (p.Asp609=) single nucleotide variant LEO1-related disorder [RCV003937230] Chr15:51947361 [GRCh38]
Chr15:52239558 [GRCh37]
Chr15:15q21.2		 benign
NM_138792.4(LEO1):c.1240T>C (p.Leu414=) single nucleotide variant LEO1-related disorder [RCV003929868] Chr15:51958747 [GRCh38]
Chr15:52250944 [GRCh37]
Chr15:15q21.2		 benign
NC_000015.10:g.(51338597_?)_(?_57376504)inv inversion Aromatase excess syndrome [RCV000019402] Chr15:51338597..57376504 [GRCh38]
Chr15:15q21.2-21.3		 pathogenic
NM_138792.4(LEO1):c.63T>C (p.Ser21=) single nucleotide variant LEO1-related disorder [RCV003919420] Chr15:51966500 [GRCh38]
Chr15:52258697 [GRCh37]
Chr15:15q21.2		 benign
NM_138792.4(LEO1):c.1341-3C>T single nucleotide variant LEO1-related disorder [RCV003934541] Chr15:51953266 [GRCh38]
Chr15:52245463 [GRCh37]
Chr15:15q21.2		 likely benign
NM_138792.4(LEO1):c.607C>T (p.Gln203Ter) single nucleotide variant Male infertility with azoospermia or oligozoospermia due to single gene mutation [RCV003991615] Chr15:51965956 [GRCh38]
Chr15:52258153 [GRCh37]
Chr15:15q21.2		 likely pathogenic
NM_138792.4(LEO1):c.863G>A (p.Arg288His) single nucleotide variant not specified [RCV004412767] Chr15:51962445 [GRCh38]
Chr15:52254642 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.624A>C (p.Glu208Asp) single nucleotide variant not specified [RCV004412763] Chr15:51965939 [GRCh38]
Chr15:52258136 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.689A>T (p.Asp230Val) single nucleotide variant not specified [RCV004412765] Chr15:51965874 [GRCh38]
Chr15:52258071 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.742G>C (p.Asp248His) single nucleotide variant not specified [RCV004412766] Chr15:51965821 [GRCh38]
Chr15:52258018 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.480A>C (p.Gln160His) single nucleotide variant not specified [RCV004642354] Chr15:51966083 [GRCh38]
Chr15:52258280 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1363G>A (p.Glu455Lys) single nucleotide variant not specified [RCV004633939] Chr15:51953241 [GRCh38]
Chr15:52245438 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.896A>G (p.Asp299Gly) single nucleotide variant not specified [RCV004642353] Chr15:51962412 [GRCh38]
Chr15:52254609 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1519T>C (p.Ser507Pro) single nucleotide variant not provided [RCV004725908] Chr15:51951936 [GRCh38]
Chr15:52244133 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1478C>G (p.Pro493Arg) single nucleotide variant not provided [RCV004726202] Chr15:51951977 [GRCh38]
Chr15:52244174 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1411C>A (p.Leu471Ile) single nucleotide variant not provided [RCV004725731] Chr15:51953193 [GRCh38]
Chr15:52245390 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_138792.4(LEO1):c.1231A>G (p.Arg411Gly) single nucleotide variant not provided [RCV004773715] Chr15:51958756 [GRCh38]
Chr15:52250953 [GRCh37]
Chr15:15q21.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:188
Count of miRNA genes:121
Interacting mature miRNAs:126
Transcripts:ENST00000299601, ENST00000315141, ENST00000558949
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407399466GWAS1048442_Hbrain measurement QTL GWAS1048442 (human)9e-17brain measurementbrain measurement (CMO:0000911)155194264751942648Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
407187618GWAS836594_Hcortical surface area measurement QTL GWAS836594 (human)1e-09cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)155196292351962924Human
407178189GWAS827165_Hcortical surface area measurement QTL GWAS827165 (human)3e-09cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)155196292351962924Human
406936456GWAS585432_Hbody mass index QTL GWAS585432 (human)2e-12body mass indexbody mass index (BMI) (CMO:0000105)155196791051967911Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
407210315GWAS859291_Hbody mass index QTL GWAS859291 (human)9e-13body mass indexbody mass index (BMI) (CMO:0000105)155196791051967911Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
407027280GWAS676256_Hbody mass index QTL GWAS676256 (human)8e-13body mass indexbody mass index (BMI) (CMO:0000105)155196791051967911Human
407246034GWAS895010_Hbody fat percentage QTL GWAS895010 (human)1e-10body fat percentagebody fat percentage (CMO:0000302)155196791051967911Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
406991034GWAS640010_Hresponse to tenofovir QTL GWAS640010 (human)0.000006response to tenofovir155193849551938496Human
406991035GWAS640011_Hresponse to tenofovir QTL GWAS640011 (human)0.000006response to tenofovir155194233551942336Human

Markers in Region
RH67897  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,239,494 - 52,239,581UniSTSGRCh37
Build 361550,026,786 - 50,026,873RGDNCBI36
Celera1529,132,911 - 29,132,998RGD
Cytogenetic Map15q21.2UniSTS
HuRef1529,070,208 - 29,070,295UniSTS
GeneMap99-GB4 RH Map15176.86UniSTS
RH47199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371552,230,259 - 52,230,381UniSTSGRCh37
Build 361550,017,551 - 50,017,673RGDNCBI36
Celera1529,123,673 - 29,123,795RGD
Cytogenetic Map15q21.2UniSTS
HuRef1529,060,963 - 29,061,085UniSTS
GeneMap99-GB4 RH Map15178.2UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4944 1723 2345 4 622 1948 464 2268 7281 6454 52 3710 847 1731 1612 170

Sequence


Ensembl Acc Id: ENST00000299601   ⟹   ENSP00000299601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,938,025 - 51,971,778 (-)Ensembl
Ensembl Acc Id: ENST00000315141   ⟹   ENSP00000314610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,938,027 - 51,971,776 (-)Ensembl
Ensembl Acc Id: ENST00000558949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1551,953,215 - 51,955,061 (-)Ensembl
RefSeq Acc Id: NM_001286430   ⟹   NP_001273359
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,938,025 - 51,971,778 (-)NCBI
HuRef1529,060,926 - 29,094,665 (-)NCBI
CHM1_11552,348,273 - 52,382,049 (-)NCBI
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323903   ⟹   NP_001310832
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,938,025 - 51,971,778 (-)NCBI
CHM1_11552,348,273 - 52,382,049 (-)NCBI
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323904   ⟹   NP_001310833
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,938,025 - 51,971,778 (-)NCBI
CHM1_11552,348,273 - 52,382,049 (-)NCBI
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001426597   ⟹   NP_001413526
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,946,154 - 51,971,778 (-)NCBI
RefSeq Acc Id: NM_001426598   ⟹   NP_001413527
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,938,025 - 51,971,778 (-)NCBI
RefSeq Acc Id: NM_138792   ⟹   NP_620147
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381551,938,025 - 51,971,778 (-)NCBI
GRCh371552,230,222 - 52,263,995 (-)NCBI
Build 361550,017,514 - 50,051,250 (-)NCBI Archive
Celera1529,123,636 - 29,157,376 (-)RGD
HuRef1529,060,926 - 29,094,665 (-)NCBI
CHM1_11552,348,273 - 52,382,049 (-)NCBI
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBI
Sequence:
RefSeq Acc Id: NR_189743
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01549,745,644 - 49,779,416 (-)NCBI
RefSeq Acc Id: NP_620147   ⟸   NM_138792
- Peptide Label: isoform 1
- UniProtKB: Q96N99 (UniProtKB/Swiss-Prot),   Q8WVC0 (UniProtKB/Swiss-Prot),   B4DNM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273359   ⟸   NM_001286430
- Peptide Label: isoform 2
- UniProtKB: B4DNM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310833   ⟸   NM_001323904
- Peptide Label: isoform 4
- UniProtKB: B4DNM0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310832   ⟸   NM_001323903
- Peptide Label: isoform 3
- UniProtKB: B4DNM0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000299601   ⟸   ENST00000299601
Ensembl Acc Id: ENSP00000314610   ⟸   ENST00000315141
RefSeq Acc Id: NP_001413527   ⟸   NM_001426598
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001413526   ⟸   NM_001426597
- Peptide Label: isoform 5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WVC0-F1-model_v2 AlphaFold Q8WVC0 1-666 view protein structure

Promoters
RGD ID:6792262
Promoter ID:HG_KWN:21414
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:ENST00000315141,   OTTHUMT00000254791,   UC010BFD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361550,051,026 - 50,051,526 (-)MPROMDB
RGD ID:7229517
Promoter ID:EPDNEW_H20504
Type:initiation region
Name:LEO1_1
Description:LEO1 homolog, Paf1/RNA polymerase II complex component
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
GRCh381551,971,774 - 51,971,834EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30401 AgrOrtholog
COSMIC LEO1 COSMIC
Ensembl Genes ENSG00000166477 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000299601 ENTREZGENE
  ENST00000299601.10 UniProtKB/Swiss-Prot
  ENST00000315141 ENTREZGENE
  ENST00000315141.5 UniProtKB/Swiss-Prot
GTEx ENSG00000166477 GTEx
HGNC ID HGNC:30401 ENTREZGENE
Human Proteome Map LEO1 Human Proteome Map
InterPro Leo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:123169 UniProtKB/Swiss-Prot
NCBI Gene 123169 ENTREZGENE
OMIM 610507 OMIM
PANTHER LEO1 PROTEIN UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  RNA POLYMERASE-ASSOCIATED PROTEIN LEO1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Leo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671558 PharmGKB
UniProt B4DNM0 ENTREZGENE, UniProtKB/TrEMBL
  LEO1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96N99 ENTREZGENE
UniProt Secondary Q96N99 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 LEO1  LEO1 homolog, Paf1/RNA polymerase II complex component  LEO1  Leo1 Paf1/RNA polymerase II complex component  Symbol and/or name change 5135510 APPROVED
2015-06-30 LEO1  Leo1 Paf1/RNA polymerase II complex component  LEO1  Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED