NEIL1 (nei like DNA glycosylase 1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: NEIL1 (nei like DNA glycosylase 1) Homo sapiens
Analyze
Symbol: NEIL1
Name: nei like DNA glycosylase 1
RGD ID: 1314485
HGNC Page HGNC:18448
Description: Enables hydrolase activity, acting on glycosyl bonds. Involved in base-excision repair; negative regulation of nuclease activity; and response to oxidative stress. Located in cytoplasm and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DNA endonuclease eight-like glycosylase 1; DNA glycosylase/AP lyase Neil1; DNA-(apurinic or apyrimidinic site) lyase Neil1; endonuclease 8-like 1; endonuclease VIII; endonuclease VIII-like 1; FLJ22402; FPG1; hFPG1; NEH1; nei endonuclease VIII-like 1; nei homolog 1; nei-like DNA glycosylase 1; nei-like protein 1; NEI1
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
GRCh381575,347,039 - 75,357,115 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1575,346,955 - 75,357,115 (+)EnsemblGRCh38hg38GRCh38
GRCh371575,639,380 - 75,649,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361573,426,463 - 73,434,641 (+)NCBINCBI36Build 36hg18NCBI36
Build 341573,426,462 - 73,434,639NCBI
Celera1552,565,769 - 52,574,027 (+)NCBICelera
Cytogenetic Map15q24.2NCBI
HuRef1552,397,780 - 52,405,946 (+)NCBIHuRef
CHM1_11575,757,932 - 75,766,193 (+)NCBICHM1_1
T2T-CHM13v2.01573,217,100 - 73,227,189 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
centrosome  (IEA)
chromosome  (IEA)
cytoplasm  (IDA,IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)

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

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11904416   PMID:12200441   PMID:12433996   PMID:12477932   PMID:12509226   PMID:14522990   PMID:14702039   PMID:14734554   PMID:15159582   PMID:15232006   PMID:15260972   PMID:15319300  
PMID:15350146   PMID:15489334   PMID:15533839   PMID:16118226   PMID:16344560   PMID:16446124   PMID:17029639   PMID:17150535   PMID:17348689   PMID:17395641   PMID:17432829   PMID:17556049  
PMID:17611195   PMID:18032376   PMID:18155253   PMID:18515411   PMID:18543945   PMID:18594018   PMID:18662981   PMID:19047128   PMID:19179336   PMID:19258314   PMID:19443904   PMID:19840299  
PMID:20005182   PMID:20099873   PMID:20338831   PMID:20346739   PMID:20496165   PMID:20522537   PMID:21068368   PMID:21131780   PMID:21244100   PMID:21697813   PMID:21832049   PMID:21873635  
PMID:21985917   PMID:22170059   PMID:22286769   PMID:22465744   PMID:22623531   PMID:22639086   PMID:22858590   PMID:22902625   PMID:23104860   PMID:23508956   PMID:23542007   PMID:23898192  
PMID:23926102   PMID:24022861   PMID:24382305   PMID:25605055   PMID:25873625   PMID:26074017   PMID:26095805   PMID:26134572   PMID:26662719   PMID:26751644   PMID:27042257   PMID:27518429  
PMID:27924031   PMID:28093361   PMID:28575236   PMID:28611215   PMID:28827588   PMID:28986522   PMID:29234069   PMID:29522991   PMID:29626765   PMID:29698889   PMID:30448017   PMID:30716333  
PMID:31018584   PMID:31100703   PMID:31733589   PMID:31784740   PMID:32198476   PMID:32302101   PMID:32685496   PMID:33087268   PMID:33300026   PMID:33498912   PMID:33595290   PMID:33660365  
PMID:33925271   PMID:33929180   PMID:33961781   PMID:34105905   PMID:34226550   PMID:35190641   PMID:35917336   PMID:37517321   PMID:38795603  


Genomics

Comparative Map Data
NEIL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381575,347,039 - 75,357,115 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1575,346,955 - 75,357,115 (+)EnsemblGRCh38hg38GRCh38
GRCh371575,639,380 - 75,649,456 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361573,426,463 - 73,434,641 (+)NCBINCBI36Build 36hg18NCBI36
Build 341573,426,462 - 73,434,639NCBI
Celera1552,565,769 - 52,574,027 (+)NCBICelera
Cytogenetic Map15q24.2NCBI
HuRef1552,397,780 - 52,405,946 (+)NCBIHuRef
CHM1_11575,757,932 - 75,766,193 (+)NCBICHM1_1
T2T-CHM13v2.01573,217,100 - 73,227,189 (+)NCBIT2T-CHM13v2.0
Neil1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39957,050,072 - 57,055,973 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl957,050,084 - 57,055,589 (-)EnsemblGRCm39 Ensembl
GRCm38957,142,788 - 57,148,688 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl957,142,800 - 57,148,305 (-)EnsemblGRCm38mm10GRCm38
MGSCv37956,991,063 - 56,994,841 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36956,941,393 - 56,945,171 (-)NCBIMGSCv36mm8
Celera954,366,965 - 54,370,747 (-)NCBICelera
Cytogenetic Map9BNCBI
cM Map930.89NCBI
Neil1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8866,446,106 - 66,452,844 (-)NCBIGRCr8
mRatBN7.2857,550,142 - 57,556,884 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl857,550,147 - 57,556,258 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx863,073,859 - 63,079,692 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0861,352,713 - 61,358,546 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0859,217,164 - 59,222,997 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0861,817,258 - 61,824,023 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl861,817,258 - 61,823,102 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0860,387,398 - 60,393,548 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4860,898,923 - 60,904,767 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1860,917,976 - 60,923,821 (-)NCBI
Celera857,016,884 - 57,022,712 (-)NCBICelera
Cytogenetic Map8q24NCBI
Neil1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554502,883,560 - 2,887,736 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554502,883,344 - 2,889,593 (-)NCBIChiLan1.0ChiLan1.0
NEIL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21664,548,148 - 64,556,747 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11568,711,956 - 68,720,558 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01554,263,424 - 54,271,601 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11573,858,889 - 73,867,474 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1573,858,910 - 73,867,474 (+)Ensemblpanpan1.1panPan2
NEIL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13038,213,429 - 38,218,132 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3038,213,250 - 38,218,130 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3038,143,614 - 38,148,916 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03038,417,356 - 38,423,452 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3038,418,434 - 38,423,452 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13038,369,774 - 38,375,937 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03038,415,430 - 38,420,766 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03038,652,471 - 38,657,785 (+)NCBIUU_Cfam_GSD_1.0
Neil1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640116,336,090 - 116,344,628 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647134,186,729 - 34,192,501 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647134,184,273 - 34,192,675 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEIL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl758,261,769 - 58,268,522 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1758,261,761 - 58,269,001 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2762,949,965 - 62,956,840 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEIL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1268,074,706 - 8,082,437 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl268,074,310 - 8,082,123 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048133,610,030 - 133,618,327 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Neil1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624894282,695 - 288,058 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624894282,799 - 287,265 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEIL1
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1 copy number loss See cases [RCV000051128] Chr15:72671629..75662276 [GRCh38]
Chr15:72963970..75954617 [GRCh37]
Chr15:70751023..73741672 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3 copy number gain See cases [RCV000051823] Chr15:75336215..75658670 [GRCh38]
Chr15:75628556..75951011 [GRCh37]
Chr15:73415609..73738066 [NCBI36]
Chr15:15q24.2		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:74106871-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053220]|See cases [RCV000053220] Chr15:74106871..75727625 [GRCh38]
Chr15:74399212..76019966 [GRCh37]
Chr15:72186265..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q24.2(chr15:75307767-75727625)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053221]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053221]|See cases [RCV000053221] Chr15:75307767..75727625 [GRCh38]
Chr15:75600108..76019966 [GRCh37]
Chr15:73387161..73807021 [NCBI36]
Chr15:15q24.2		 pathogenic
NM_006715.3(MAN2C1):c.2865C>T (p.Val955=) single nucleotide variant Malignant melanoma [RCV000070897] Chr15:75356322 [GRCh38]
Chr15:75648663 [GRCh37]
Chr15:73435716 [NCBI36]
Chr15:15q24.2		 not provided
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1		 pathogenic
GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1 copy number loss See cases [RCV000141573] Chr15:72685231..75727625 [GRCh38]
Chr15:72977572..76019966 [GRCh37]
Chr15:70764625..73807021 [NCBI36]
Chr15:15q24.1-24.2		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3 copy number gain See cases [RCV000240066] Chr15:72998989..76069787 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 copy number gain See cases [RCV000240526] Chr15:74368270..78122737 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3 copy number gain See cases [RCV000240543] Chr15:75562397..76030552 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232) copy number loss Chromosome 15q24 deletion syndrome [RCV003319589] Chr15:72943184..76085232 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_006715.4(MAN2C1):c.2597C>T (p.Ala866Val) single nucleotide variant not specified [RCV004332683] Chr15:75356853 [GRCh38]
Chr15:75649194 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
NM_024608.4(NEIL1):c.314dup (p.Pro106fs) duplication not provided [RCV000731248] Chr15:75349215..75349216 [GRCh38]
Chr15:75641556..75641557 [GRCh37]
Chr15:15q24.2		 conflicting interpretations of pathogenicity|uncertain significance
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 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 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 15q24.1-24.2(chr15:72958539-76063285)x1 copy number loss not provided [RCV000509167] Chr15:72958539..76063285 [GRCh37]
Chr15:15q24.1-24.2		 not provided
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
NM_006715.4(MAN2C1):c.3053G>A (p.Arg1018His) single nucleotide variant not specified [RCV004313291] Chr15:75355976 [GRCh38]
Chr15:75648317 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2663G>A (p.Arg888Gln) single nucleotide variant not specified [RCV004322944] Chr15:75356680 [GRCh38]
Chr15:75649021 [GRCh37]
Chr15:15q24.2		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
Single allele duplication SIN3A-related intellectual disability syndrome due to a point mutation [RCV000678018] Chr15:75600108..76063285 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1 copy number loss not provided [RCV000683707] Chr15:75078195..75862756 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1 copy number loss not provided [RCV000683704] Chr15:72943184..76072324 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.2(chr15:75630988-76053570)x1 copy number loss not provided [RCV000738822] Chr15:75630988..76053570 [GRCh37]
Chr15:15q24.2		 benign
Single allele duplication Schizophrenia [RCV000754167] Chr15:74071509..77878298 [GRCh38]
Chr15:15q24.1-24.3		 likely 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
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
NM_024608.4(NEIL1):c.-23+263G>A single nucleotide variant not provided [RCV001680050] Chr15:75347736 [GRCh38]
Chr15:75640077 [GRCh37]
Chr15:15q24.2		 benign
NM_024608.4(NEIL1):c.434+2T>C single nucleotide variant not provided [RCV000973049] Chr15:75349341 [GRCh38]
Chr15:75641682 [GRCh37]
Chr15:15q24.2		 benign|likely benign
NM_024608.4(NEIL1):c.146C>G (p.Ala49Gly) single nucleotide variant not provided [RCV000950799] Chr15:75349051 [GRCh38]
Chr15:75641392 [GRCh37]
Chr15:15q24.2		 benign|likely benign
NM_024608.4(NEIL1):c.546C>G (p.Ile182Met) single nucleotide variant not provided [RCV000899973] Chr15:75352222 [GRCh38]
Chr15:75644563 [GRCh37]
Chr15:15q24.2		 benign
NM_024608.4(NEIL1):c.203C>A (p.Pro68His) single nucleotide variant not provided [RCV000964345] Chr15:75349108 [GRCh38]
Chr15:75641449 [GRCh37]
Chr15:15q24.2		 benign
GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3 copy number gain not provided [RCV000848212] Chr15:72963271..76064900 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_024608.4(NEIL1):c.754G>A (p.Asp252Asn) single nucleotide variant not provided [RCV000960870] Chr15:75353774 [GRCh38]
Chr15:75646115 [GRCh37]
Chr15:15q24.2		 benign|likely benign
GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3 copy number gain not provided [RCV000848480] Chr15:75508057..76128091 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q24.2(chr15:75309345-75930806)x3 copy number gain not provided [RCV000846467] Chr15:75309345..75930806 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.-22-656A>G single nucleotide variant not provided [RCV001639179] Chr15:75348228 [GRCh38]
Chr15:75640569 [GRCh37]
Chr15:15q24.2		 benign
GRCh37/hg19 15q24.2(chr15:75385567-75674401)x3 copy number gain not provided [RCV001006711] Chr15:75385567..75674401 [GRCh37]
Chr15:15q24.2		 uncertain significance
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 15q24.1-24.2(chr15:74398162-76054094)x1 copy number loss not provided [RCV001259708] Chr15:74398162..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3 copy number gain not provided [RCV001259709] Chr15:75440382..76133553 [GRCh37]
Chr15:15q24.2		 uncertain significance
Single allele deletion Epilepsy [RCV001293374] Chr15:75596353..76103430 [GRCh37]
Chr15:15q24.2		 pathogenic
NM_024608.4(NEIL1):c.-23+609C>T single nucleotide variant not provided [RCV001695367] Chr15:75348082 [GRCh38]
Chr15:75640423 [GRCh37]
Chr15:15q24.2		 benign
NM_024608.4(NEIL1):c.719-114_719-113del deletion not provided [RCV001693871] Chr15:75353625..75353626 [GRCh38]
Chr15:75645966..75645967 [GRCh37]
Chr15:15q24.2		 benign
NM_024608.4(NEIL1):c.-22-639C>T single nucleotide variant not provided [RCV001768033] Chr15:75348245 [GRCh38]
Chr15:75640586 [GRCh37]
Chr15:15q24.2		 likely benign
NM_024608.4(NEIL1):c.434+34G>A single nucleotide variant not provided [RCV001757751] Chr15:75349373 [GRCh38]
Chr15:75641714 [GRCh37]
Chr15:15q24.2		 likely benign
NM_024608.4(NEIL1):c.-23+315G>A single nucleotide variant not provided [RCV001757750] Chr15:75347788 [GRCh38]
Chr15:75640129 [GRCh37]
Chr15:15q24.2		 likely benign
NC_000015.9:g.(?_72978569)_(75722716_?)del deletion not provided [RCV001863697] Chr15:72978569..75722716 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_006715.4(MAN2C1):c.2612G>C (p.Cys871Ser) single nucleotide variant Congenital disorder of deglycosylation 2 [RCV001843381] Chr15:75356838 [GRCh38]
Chr15:75649179 [GRCh37]
Chr15:15q24.2		 pathogenic
NM_006715.4(MAN2C1):c.2733_2734del (p.His911fs) microsatellite Congenital disorder of deglycosylation 2 [RCV001843382] Chr15:75356609..75356610 [GRCh38]
Chr15:75648950..75648951 [GRCh37]
Chr15:15q24.2		 pathogenic|likely pathogenic
NC_000015.9:g.(?_75628431)_(76054677_?)del deletion not provided [RCV003122680] Chr15:75628431..76054677 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2997-1G>T single nucleotide variant Congenital disorder of deglycosylation 2 [RCV002250885] Chr15:75356033 [GRCh38]
Chr15:75648374 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094) copy number loss Hearing impairment [RCV002280767] Chr15:74398068..76054094 [GRCh37]
Chr15:15q24.1-24.2		 pathogenic
NM_006715.4(MAN2C1):c.2702G>A (p.Arg901His) single nucleotide variant Congenital disorder of deglycosylation 2 [RCV002470250] Chr15:75356641 [GRCh38]
Chr15:75648982 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1 copy number loss not provided [RCV002474580] Chr15:74353736..77884397 [GRCh37]
Chr15:15q24.1-24.3		 pathogenic
NM_024608.4(NEIL1):c.449G>A (p.Arg150Gln) single nucleotide variant not specified [RCV004139630] Chr15:75352125 [GRCh38]
Chr15:75644466 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.764C>A (p.Ala255Asp) single nucleotide variant not specified [RCV004114606] Chr15:75353784 [GRCh38]
Chr15:75646125 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.838T>G (p.Trp280Gly) single nucleotide variant not specified [RCV004152998] Chr15:75353858 [GRCh38]
Chr15:75646199 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.274G>C (p.Glu92Gln) single nucleotide variant not specified [RCV004226851] Chr15:75349179 [GRCh38]
Chr15:75641520 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2561G>A (p.Arg854His) single nucleotide variant not specified [RCV004144283] Chr15:75356889 [GRCh38]
Chr15:75649230 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2866G>A (p.Val956Ile) single nucleotide variant not specified [RCV004134463] Chr15:75356321 [GRCh38]
Chr15:75648662 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.274G>A (p.Glu92Lys) single nucleotide variant not specified [RCV004076205] Chr15:75349179 [GRCh38]
Chr15:75641520 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2908C>T (p.Arg970Cys) single nucleotide variant not specified [RCV004083377] Chr15:75356198 [GRCh38]
Chr15:75648539 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.275A>T (p.Glu92Val) single nucleotide variant not specified [RCV004226852] Chr15:75349180 [GRCh38]
Chr15:75641521 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.553C>T (p.Arg185Trp) single nucleotide variant not specified [RCV004228331] Chr15:75352229 [GRCh38]
Chr15:75644570 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.580G>A (p.Ala194Thr) single nucleotide variant not specified [RCV004110580] Chr15:75352349 [GRCh38]
Chr15:75644690 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.688C>T (p.His230Tyr) single nucleotide variant not specified [RCV004185459] Chr15:75352671 [GRCh38]
Chr15:75645012 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.887G>A (p.Arg296His) single nucleotide variant not specified [RCV004224954] Chr15:75354443 [GRCh38]
Chr15:75646784 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.356G>A (p.Arg119Gln) single nucleotide variant not specified [RCV004227449] Chr15:75349261 [GRCh38]
Chr15:75641602 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.3034T>A (p.Leu1012Met) single nucleotide variant not specified [RCV004160317] Chr15:75355995 [GRCh38]
Chr15:75648336 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.154C>G (p.Arg52Gly) single nucleotide variant not specified [RCV004153430] Chr15:75349059 [GRCh38]
Chr15:75641400 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
NM_006715.4(MAN2C1):c.2701C>T (p.Arg901Cys) single nucleotide variant not specified [RCV004297361] Chr15:75356642 [GRCh38]
Chr15:75648983 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.821G>A (p.Arg274Gln) single nucleotide variant not specified [RCV004259455] Chr15:75353841 [GRCh38]
Chr15:75646182 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.3052C>T (p.Arg1018Cys) single nucleotide variant not specified [RCV004250493] Chr15:75355977 [GRCh38]
Chr15:75648318 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_024608.4(NEIL1):c.210G>C (p.Gln70His) single nucleotide variant not specified [RCV004358770] Chr15:75349115 [GRCh38]
Chr15:75641456 [GRCh37]
Chr15:15q24.2		 uncertain significance
GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1 copy number loss not provided [RCV003483241] Chr15:75601120..76081362 [GRCh37]
Chr15:15q24.2		 pathogenic
NM_006715.4(MAN2C1):c.2730G>A (p.Pro910=) single nucleotide variant not provided [RCV003395009] Chr15:75356613 [GRCh38]
Chr15:75648954 [GRCh37]
Chr15:15q24.2		 likely benign
NM_006715.4(MAN2C1):c.2584G>A (p.Gly862Ser) single nucleotide variant MAN2C1-related disorder [RCV003392829] Chr15:75356866 [GRCh38]
Chr15:75649207 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2809C>T (p.Pro937Ser) single nucleotide variant not specified [RCV004415956] Chr15:75356378 [GRCh38]
Chr15:75648719 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2656C>T (p.Leu886Phe) single nucleotide variant not specified [RCV004415954] Chr15:75356794 [GRCh38]
Chr15:75649135 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2752G>A (p.Ala918Thr) single nucleotide variant not specified [RCV004415955] Chr15:75356435 [GRCh38]
Chr15:75648776 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.2848G>A (p.Val950Met) single nucleotide variant not specified [RCV004415957] Chr15:75356339 [GRCh38]
Chr15:75648680 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.313C>T (p.Pro105Ser) single nucleotide variant not specified [RCV004485751] Chr15:75349218 [GRCh38]
Chr15:75641559 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.728G>A (p.Gly243Asp) single nucleotide variant not specified [RCV004485759] Chr15:75353748 [GRCh38]
Chr15:75646089 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.1037A>G (p.Gln346Arg) single nucleotide variant not specified [RCV004485735] Chr15:75354753 [GRCh38]
Chr15:75647094 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_006715.4(MAN2C1):c.3115C>T (p.Pro1039Ser) single nucleotide variant not specified [RCV004415958] Chr15:75355914 [GRCh38]
Chr15:75648255 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.959C>A (p.Ala320Asp) single nucleotide variant not specified [RCV004485762] Chr15:75354675 [GRCh38]
Chr15:75647016 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.435-819_435-818dup duplication NEIL1-related disorder [RCV003914220] Chr15:75351274..75351275 [GRCh38]
Chr15:75643615..75643616 [GRCh37]
Chr15:15q24.2		 benign
NM_024608.4(NEIL1):c.753G>A (p.Glu251=) single nucleotide variant NEIL1-related disorder [RCV003926859] Chr15:75353773 [GRCh38]
Chr15:75646114 [GRCh37]
Chr15:15q24.2		 likely benign
NM_024608.4(NEIL1):c.733G>A (p.Gly245Arg) single nucleotide variant NEIL1-related disorder [RCV003963857] Chr15:75353753 [GRCh38]
Chr15:75646094 [GRCh37]
Chr15:15q24.2		 likely benign
NM_024608.4(NEIL1):c.619-22CCTGCC[3] microsatellite NEIL1-related disorder [RCV003937212] Chr15:75352579..75352580 [GRCh38]
Chr15:75644920..75644921 [GRCh37]
Chr15:15q24.2		 likely benign
NM_024608.4(NEIL1):c.967A>G (p.Arg323Gly) single nucleotide variant NEIL1-related disorder [RCV003914299] Chr15:75354683 [GRCh38]
Chr15:75647024 [GRCh37]
Chr15:15q24.2		 likely benign
NM_006715.4(MAN2C1):c.2558A>C (p.His853Pro) single nucleotide variant not specified [RCV004415951] Chr15:75356892 [GRCh38]
Chr15:75649233 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.921T>G (p.Pro307=) single nucleotide variant NEIL1-related disorder [RCV003924225] Chr15:75354477 [GRCh38]
Chr15:75646818 [GRCh37]
Chr15:15q24.2		 likely benign
NM_024608.4(NEIL1):c.990C>T (p.Asp330=) single nucleotide variant NEIL1-related disorder [RCV003971772] Chr15:75354706 [GRCh38]
Chr15:75647047 [GRCh37]
Chr15:15q24.2		 likely benign
NC_000015.9:g.(?_74219125)_(77329517_?)del deletion Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [RCV004583017] Chr15:74219125..77329517 [GRCh37]
Chr15:15q24.1-24.3		 uncertain significance
NM_024608.4(NEIL1):c.364C>T (p.Arg122Cys) single nucleotide variant not specified [RCV004641475] Chr15:75349269 [GRCh38]
Chr15:75641610 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.969G>T (p.Arg323Ser) single nucleotide variant not specified [RCV004654718] Chr15:75354685 [GRCh38]
Chr15:75647026 [GRCh37]
Chr15:15q24.2		 uncertain significance
NM_024608.4(NEIL1):c.899C>G (p.Ser300Cys) single nucleotide variant not specified [RCV004654719] Chr15:75354455 [GRCh38]
Chr15:75646796 [GRCh37]
Chr15:15q24.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7018
Count of miRNA genes:1055
Interacting mature miRNAs:1324
Transcripts:ENST00000355059, ENST00000561643, ENST00000564257, ENST00000564500, ENST00000564738, ENST00000564784, ENST00000564951, ENST00000565051, ENST00000565121, ENST00000566313, ENST00000566752, ENST00000567005, ENST00000567393, ENST00000567547, ENST00000567657, ENST00000567681, ENST00000567959, ENST00000568059, ENST00000568519, ENST00000568881, ENST00000569035, ENST00000569390, ENST00000569506, ENST00000569758
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407087075GWAS736051_Hosteoarthritis, knee QTL GWAS736051 (human)6e-09osteoarthritis, knee157535137375351374Human

Markers in Region
WI-12510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371575,647,442 - 75,647,566UniSTSGRCh37
Build 361573,434,495 - 73,434,619RGDNCBI36
Celera1552,573,881 - 52,574,005RGD
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map15q24.2UniSTS
HuRef1552,405,796 - 52,405,920UniSTS
GeneMap99-GB4 RH Map15254.56UniSTS
Whitehead-RH Map15249.1UniSTS


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
1204 2437 2788 2248 4969 1726 2350 5 624 1948 465 2268 7294 6461 52 3732 1 851 1740 1615 172

Sequence


Ensembl Acc Id: ENST00000355059   ⟹   ENSP00000347170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,039 - 75,357,115 (+)Ensembl
Ensembl Acc Id: ENST00000561643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,090 - 75,355,245 (+)Ensembl
Ensembl Acc Id: ENST00000564257   ⟹   ENSP00000456852
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,860 - 75,349,301 (+)Ensembl
Ensembl Acc Id: ENST00000564500   ⟹   ENSP00000456466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,346,955 - 75,348,971 (+)Ensembl
Ensembl Acc Id: ENST00000564738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,348,935 - 75,354,292 (+)Ensembl
Ensembl Acc Id: ENST00000564784   ⟹   ENSP00000457352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,619 - 75,355,251 (+)Ensembl
Ensembl Acc Id: ENST00000564951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,342 - 75,349,690 (+)Ensembl
Ensembl Acc Id: ENST00000565051   ⟹   ENSP00000457056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,727 - 75,352,701 (+)Ensembl
Ensembl Acc Id: ENST00000565121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,353,391 - 75,355,247 (+)Ensembl
Ensembl Acc Id: ENST00000566313   ⟹   ENSP00000457081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,038 - 75,349,057 (+)Ensembl
Ensembl Acc Id: ENST00000566752   ⟹   ENSP00000457541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,013 - 75,349,098 (+)Ensembl
Ensembl Acc Id: ENST00000567005   ⟹   ENSP00000454292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,981 - 75,352,061 (+)Ensembl
Ensembl Acc Id: ENST00000567393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,353,154 - 75,355,215 (+)Ensembl
Ensembl Acc Id: ENST00000567547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,351,946 - 75,352,977 (+)Ensembl
Ensembl Acc Id: ENST00000567657   ⟹   ENSP00000455949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,435 - 75,352,230 (+)Ensembl
Ensembl Acc Id: ENST00000567681
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,653 - 75,348,651 (+)Ensembl
Ensembl Acc Id: ENST00000567959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,099 - 75,352,963 (+)Ensembl
Ensembl Acc Id: ENST00000568059   ⟹   ENSP00000455745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,053 - 75,349,170 (+)Ensembl
Ensembl Acc Id: ENST00000568519   ⟹   ENSP00000456945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,383 - 75,352,179 (+)Ensembl
Ensembl Acc Id: ENST00000568881   ⟹   ENSP00000454729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,069 - 75,349,024 (+)Ensembl
Ensembl Acc Id: ENST00000569035   ⟹   ENSP00000455730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,638 - 75,355,247 (+)Ensembl
Ensembl Acc Id: ENST00000569390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,347,392 - 75,348,222 (+)Ensembl
Ensembl Acc Id: ENST00000569506   ⟹   ENSP00000457371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,348,399 - 75,349,151 (+)Ensembl
Ensembl Acc Id: ENST00000569758
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1575,354,603 - 75,355,245 (+)Ensembl
RefSeq Acc Id: NM_001256552   ⟹   NP_001243481
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,347,619 - 75,355,251 (+)NCBI
GRCh371575,639,331 - 75,647,592 (+)NCBI
HuRef1552,397,780 - 52,405,946 (+)NCBI
CHM1_11575,758,561 - 75,766,193 (+)NCBI
T2T-CHM13v2.01573,217,680 - 73,225,325 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352519   ⟹   NP_001339448
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,347,039 - 75,352,982 (+)NCBI
T2T-CHM13v2.01573,217,100 - 73,223,044 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001352520   ⟹   NP_001339449
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,347,039 - 75,357,115 (+)NCBI
T2T-CHM13v2.01573,217,100 - 73,227,189 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024608   ⟹   NP_078884
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,347,039 - 75,357,115 (+)NCBI
GRCh371575,639,331 - 75,647,592 (+)NCBI
Build 361573,426,463 - 73,434,641 (+)NCBI Archive
HuRef1552,397,780 - 52,405,946 (+)NCBI
CHM1_11575,757,932 - 75,766,193 (+)NCBI
T2T-CHM13v2.01573,217,100 - 73,227,189 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046311
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,347,835 - 75,357,115 (+)NCBI
GRCh371575,639,331 - 75,647,592 (+)NCBI
HuRef1552,397,780 - 52,405,946 (+)NCBI
CHM1_11575,758,561 - 75,766,193 (+)NCBI
T2T-CHM13v2.01573,217,896 - 73,227,189 (+)NCBI
Sequence:
RefSeq Acc Id: NP_078884   ⟸   NM_024608
- Peptide Label: isoform 2
- UniProtKB: Q86XW7 (UniProtKB/Swiss-Prot),   Q6ZRA7 (UniProtKB/Swiss-Prot),   D3DW75 (UniProtKB/Swiss-Prot),   Q9H6C3 (UniProtKB/Swiss-Prot),   Q96FI4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001243481   ⟸   NM_001256552
- Peptide Label: isoform 1
- UniProtKB: Q96FI4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001339449   ⟸   NM_001352520
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001339448   ⟸   NM_001352519
- Peptide Label: isoform 4
- Sequence:
Ensembl Acc Id: ENSP00000457371   ⟸   ENST00000569506
Ensembl Acc Id: ENSP00000456466   ⟸   ENST00000564500
Ensembl Acc Id: ENSP00000456852   ⟸   ENST00000564257
Ensembl Acc Id: ENSP00000457352   ⟸   ENST00000564784
Ensembl Acc Id: ENSP00000457056   ⟸   ENST00000565051
Ensembl Acc Id: ENSP00000347170   ⟸   ENST00000355059
Ensembl Acc Id: ENSP00000457081   ⟸   ENST00000566313
Ensembl Acc Id: ENSP00000457541   ⟸   ENST00000566752
Ensembl Acc Id: ENSP00000455949   ⟸   ENST00000567657
Ensembl Acc Id: ENSP00000454292   ⟸   ENST00000567005
Ensembl Acc Id: ENSP00000455745   ⟸   ENST00000568059
Ensembl Acc Id: ENSP00000454729   ⟸   ENST00000568881
Ensembl Acc Id: ENSP00000456945   ⟸   ENST00000568519
Ensembl Acc Id: ENSP00000455730   ⟸   ENST00000569035
Protein Domains
Formamidopyrimidine-DNA glycosylase catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96FI4-F1-model_v2 AlphaFold Q96FI4 1-390 view protein structure

Promoters
RGD ID:6792475
Promoter ID:HG_KWN:21948
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000286412,   UC002BAE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361573,426,546 - 73,427,397 (+)MPROMDB
RGD ID:6792255
Promoter ID:HG_KWN:21949
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000336572
Position:
Human AssemblyChrPosition (strand)Source
Build 361573,427,451 - 73,428,702 (+)MPROMDB
RGD ID:7230135
Promoter ID:EPDNEW_H20813
Type:initiation region
Name:NEIL1_1
Description:nei like DNA glycosylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20814  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,347,624 - 75,347,684EPDNEW
RGD ID:7230137
Promoter ID:EPDNEW_H20814
Type:initiation region
Name:NEIL1_2
Description:nei like DNA glycosylase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20813  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381575,348,320 - 75,348,380EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18448 AgrOrtholog
COSMIC NEIL1 COSMIC
Ensembl Genes ENSG00000140398 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355059 ENTREZGENE
  ENST00000355059.9 UniProtKB/Swiss-Prot
  ENST00000564257.1 UniProtKB/TrEMBL
  ENST00000564500.5 UniProtKB/TrEMBL
  ENST00000564784.5 UniProtKB/Swiss-Prot
  ENST00000565051.5 UniProtKB/TrEMBL
  ENST00000566313.5 UniProtKB/TrEMBL
  ENST00000566752.5 UniProtKB/TrEMBL
  ENST00000567005.1 UniProtKB/TrEMBL
  ENST00000567657.5 UniProtKB/TrEMBL
  ENST00000568059.1 UniProtKB/TrEMBL
  ENST00000568519.5 UniProtKB/TrEMBL
  ENST00000568881.1 UniProtKB/TrEMBL
  ENST00000569035.5 UniProtKB/Swiss-Prot
  ENST00000569506.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.8.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.20.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140398 GTEx
HGNC ID HGNC:18448 ENTREZGENE
Human Proteome Map NEIL1 Human Proteome Map
InterPro DNA_glyclase/AP_lyase_DNA-bd UniProtKB/Swiss-Prot
  Endonuclease-VIII_DNA-bd UniProtKB/Swiss-Prot
  FPG_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MutM-like_N-ter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S13-like_H2TH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79661 UniProtKB/Swiss-Prot
NCBI Gene 79661 ENTREZGENE
OMIM 608844 OMIM
PANTHER ENDONUCLEASE 8-LIKE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FORMAMIDOPYRIMIDINE-DNA GLYCOSYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Fapy_DNA_glyco UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neil1-DNA_bind UniProtKB/Swiss-Prot
PharmGKB PA38334 PharmGKB
PROSITE FPG_CAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Fapy_DNA_glyco UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  H2TH UniProtKB/Swiss-Prot
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot
  SSF46946 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81624 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DW75 ENTREZGENE
  H3BM98_HUMAN UniProtKB/TrEMBL
  H3BN83_HUMAN UniProtKB/TrEMBL
  H3BQE8_HUMAN UniProtKB/TrEMBL
  H3BQU8_HUMAN UniProtKB/TrEMBL
  H3BRZ2_HUMAN UniProtKB/TrEMBL
  H3BST2_HUMAN UniProtKB/TrEMBL
  H3BSZ5_HUMAN UniProtKB/TrEMBL
  H3BT75_HUMAN UniProtKB/TrEMBL
  H3BT94_HUMAN UniProtKB/TrEMBL
  H3BTX5_HUMAN UniProtKB/TrEMBL
  H3BU98_HUMAN UniProtKB/TrEMBL
  NEIL1_HUMAN UniProtKB/Swiss-Prot
  Q6ZRA7 ENTREZGENE
  Q86XW7 ENTREZGENE
  Q96FI4 ENTREZGENE
  Q9H6C3 ENTREZGENE
UniProt Secondary D3DW75 UniProtKB/Swiss-Prot
  Q6ZRA7 UniProtKB/Swiss-Prot
  Q86XW7 UniProtKB/Swiss-Prot
  Q9H6C3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 NEIL1  nei like DNA glycosylase 1    nei-like DNA glycosylase 1  Symbol and/or name change 5135510 APPROVED
2015-06-30 NEIL1  nei-like DNA glycosylase 1    nei endonuclease VIII-like 1 (E. coli)  Symbol and/or name change 5135510 APPROVED