NR2F1-AS1 (NR2F1 antisense RNA 1) - Rat Genome Database

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Gene: NR2F1-AS1 (NR2F1 antisense RNA 1) Homo sapiens
Analyze
Symbol: NR2F1-AS1
Name: NR2F1 antisense RNA 1
RGD ID: 7244940
HGNC Page HGNC:48622
Description: ASSOCIATED WITH Bosch-Boonstra-Schaaf optic atrophy syndrome; Developmental Disabilities; epilepsy; INTERACTS WITH 17beta-estradiol; antirheumatic drug; benzo[a]pyrene
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38593,409,356 - 93,585,589 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl593,360,779 - 93,585,649 (-)EnsemblGRCh38hg38GRCh38
GRCh37592,745,062 - 92,917,026 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera588,604,127 - 88,776,391 (-)NCBICelera
Cytogenetic Map5q15NCBI
HuRef587,918,436 - 88,090,164 (-)NCBIHuRef
CHM1_1592,177,872 - 92,349,809 (-)NCBICHM1_1
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction 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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:16344560   PMID:22658674   PMID:23583100   PMID:29117863   PMID:29602203   PMID:31109400   PMID:31304680   PMID:31692033   PMID:32329844   PMID:32392629  
PMID:32407174   PMID:32548873   PMID:32945459   PMID:33378023   PMID:33822440   PMID:34475402   PMID:35082283   PMID:35094651   PMID:35283481   PMID:36410172   PMID:36644870   PMID:37575267  
PMID:37902251  


Genomics

Variants

.
Variants in NR2F1-AS1
163 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 copy number loss See cases [RCV000135748] Chr5:85966055..101335711 [GRCh38]
Chr5:85261873..100671415 [GRCh37]
Chr5:85297629..100699314 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 copy number loss See cases [RCV000139656] Chr5:84603580..111435081 [GRCh38]
Chr5:83899398..110770779 [GRCh37]
Chr5:83935154..110798678 [NCBI36]
Chr5:5q14.3-22.1		 pathogenic
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 copy number loss See cases [RCV000141252] Chr5:92899734..119614119 [GRCh38]
Chr5:92235441..118949814 [GRCh37]
Chr5:92261197..118977713 [NCBI36]
Chr5:5q14.3-23.1		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:92031269-93947338)x1 copy number loss See cases [RCV000140706] Chr5:92031269..93947338 [GRCh38]
Chr5:91327086..93283043 [GRCh37]
Chr5:91362842..93308799 [NCBI36]
Chr5:5q14.3-15		 likely pathogenic|uncertain significance
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 copy number loss See cases [RCV000143249] Chr5:93193104..113287795 [GRCh38]
Chr5:92528810..112623492 [GRCh37]
Chr5:92554566..112651391 [NCBI36]
Chr5:5q15-22.2		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic
GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 copy number loss See cases [RCV000050945] Chr5:87376883..101524443 [GRCh38]
Chr5:86672700..100860147 [GRCh37]
Chr5:86708456..100888046 [NCBI36]
Chr5:5q14.3-21.1		 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:88936770-94102018)x1 copy number loss See cases [RCV000053480] Chr5:88936770..94102018 [GRCh38]
Chr5:88232587..93437723 [GRCh37]
Chr5:88268343..93463479 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 copy number loss See cases [RCV000053516] Chr5:89081352..104687248 [GRCh38]
Chr5:88377169..104022949 [GRCh37]
Chr5:88412925..104050848 [NCBI36]
Chr5:5q14.3-21.2		 pathogenic
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 copy number loss See cases [RCV000053519] Chr5:91386552..98365880 [GRCh38]
Chr5:90682369..97701584 [GRCh37]
Chr5:90718125..97729488 [NCBI36]
Chr5:5q14.3-15		 pathogenic
GRCh38/hg38 5q15(chr5:93078983-95529159)x1 copy number loss See cases [RCV000053521] Chr5:93078983..95529159 [GRCh38]
Chr5:92414689..94864863 [GRCh37]
Chr5:92440445..94890619 [NCBI36]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.193G>A (p.Gly65Ser) single nucleotide variant not provided [RCV001915799] Chr5:93585216 [GRCh38]
Chr5:92920922 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup) duplication not provided [RCV001976222] Chr5:93585124..93585125 [GRCh38]
Chr5:92920830..92920831 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.73C>G (p.Pro25Ala) single nucleotide variant not provided [RCV002248279] Chr5:93585096 [GRCh38]
Chr5:92920802 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu) single nucleotide variant Seizure [RCV002275466] Chr5:93585301 [GRCh38]
Chr5:92921007 [GRCh37]
Chr5:5q15		 likely pathogenic
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 copy number gain See cases [RCV000053285] Chr5:93405010..97716265 [GRCh38]
Chr5:92740716..97051969 [GRCh37]
Chr5:92766472..97077725 [NCBI36]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.72C>A (p.Asn24Lys) single nucleotide variant not provided [RCV001574750] Chr5:93585095 [GRCh38]
Chr5:92920801 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002274628] Chr5:93585024 [GRCh38]
Chr5:92920730 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114388] Chr5:93585362 [GRCh38]
Chr5:92921068 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.463+1G>A single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001196236] Chr5:93585487 [GRCh38]
Chr5:92921193 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775376] Chr5:93585231..93585234 [GRCh38]
Chr5:92920937..92920940 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001823039] Chr5:93585354 [GRCh38]
Chr5:92921060 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.189C>T (p.Thr63=) single nucleotide variant not provided [RCV001653056] Chr5:93585212 [GRCh38]
Chr5:92920918 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.131C>T (p.Ala44Val) single nucleotide variant not provided [RCV002031483] Chr5:93585154 [GRCh38]
Chr5:92920860 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.359A>G (p.Tyr120Cys) single nucleotide variant not provided [RCV002296040] Chr5:93585382 [GRCh38]
Chr5:92921088 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.74C>G (p.Pro25Arg) single nucleotide variant not provided [RCV001771309] Chr5:93585097 [GRCh38]
Chr5:92920803 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.120del (p.Gln40fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001196876] Chr5:93585143 [GRCh38]
Chr5:92920849 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.66C>T (p.Gly22=) single nucleotide variant not provided [RCV001584961] Chr5:93585089 [GRCh38]
Chr5:92920795 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.323G>A (p.Ser108Asn) single nucleotide variant Neurodevelopmental delay [RCV002274359] Chr5:93585346 [GRCh38]
Chr5:92921052 [GRCh37]
Chr5:5q15		 likely pathogenic|likely benign
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114390] Chr5:93585358 [GRCh38]
Chr5:92921064 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.32C>T (p.Pro11Leu) single nucleotide variant not provided [RCV001917336] Chr5:93585055 [GRCh38]
Chr5:92920761 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001775352] Chr5:93585267 [GRCh38]
Chr5:92920973 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001754557] Chr5:93585315 [GRCh38]
Chr5:92921021 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001198789] Chr5:93585192 [GRCh38]
Chr5:92920898 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.351C>T (p.Asn117=) single nucleotide variant not provided [RCV002081596] Chr5:93585374 [GRCh38]
Chr5:92921080 [GRCh37]
Chr5:5q15		 likely benign
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1 copy number loss Intellectual disability, autosomal dominant 20 [RCV003327617] Chr5:88189536..93784597 [GRCh38]
Chr5:5q14.3-15		 pathogenic
NM_005654.6(NR2F1):c.218G>A (p.Gly73Asp) single nucleotide variant not provided [RCV001762985] Chr5:93585241 [GRCh38]
Chr5:92920947 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.231G>C (p.Ser77=) single nucleotide variant not provided [RCV002107657] Chr5:93585254 [GRCh38]
Chr5:92920960 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.184G>A (p.Ala62Thr) single nucleotide variant not provided [RCV002908706] Chr5:93585207 [GRCh38]
Chr5:92920913 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly) single nucleotide variant Inborn genetic diseases [RCV002905264]|not provided [RCV003574999] Chr5:93585133 [GRCh38]
Chr5:92920839 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.58C>T (p.Pro20Ser) single nucleotide variant not provided [RCV003040550] Chr5:93585081 [GRCh38]
Chr5:92920787 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.71A>G (p.Asn24Ser) single nucleotide variant not provided [RCV003058166] Chr5:93585094 [GRCh38]
Chr5:92920800 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) single nucleotide variant Inborn genetic diseases [RCV001266705]|not provided [RCV000494334] Chr5:93585340 [GRCh38]
Chr5:92921046 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.314G>A (p.Gly105Asp) single nucleotide variant not provided [RCV000523726] Chr5:93585337 [GRCh38]
Chr5:92921043 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs) indel not provided [RCV002276132] Chr5:93585450..93585452 [GRCh38]
Chr5:92921156..92921158 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) deletion Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000824861] Chr5:93585107..93585116 [GRCh38]
Chr5:92920813..92920822 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.448G>A (p.Gly150Ser) single nucleotide variant not provided [RCV003129080] Chr5:93585471 [GRCh38]
Chr5:92921177 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.288G>A (p.Lys96=) single nucleotide variant not provided [RCV000923016] Chr5:93585311 [GRCh38]
Chr5:92921017 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.290A>C (p.His97Pro) single nucleotide variant not provided [RCV000519522] Chr5:93585313 [GRCh38]
Chr5:92921019 [GRCh37]
Chr5:5q15		 pathogenic|uncertain significance
NM_005654.6(NR2F1):c.211G>A (p.Gly71Ser) single nucleotide variant not provided [RCV000494526] Chr5:93585234 [GRCh38]
Chr5:92920940 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001249826]|not provided [RCV000519537] Chr5:93585336 [GRCh38]
Chr5:92921042 [GRCh37]
Chr5:5q15		 likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV000484839] Chr5:93585024 [GRCh38]
Chr5:92920730 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677401] Chr5:93585426 [GRCh38]
Chr5:92921132 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677407] Chr5:93585312 [GRCh38]
Chr5:92921018 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.172C>A (p.Pro58Thr) single nucleotide variant not provided [RCV000658212] Chr5:93585195 [GRCh38]
Chr5:92920901 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.60C>G (p.Pro20=) single nucleotide variant not provided [RCV002521645]|not specified [RCV000431353] Chr5:93585083 [GRCh38]
Chr5:92920789 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.463+5A>G single nucleotide variant NR2F1-related condition [RCV003912675]|not provided [RCV001703729] Chr5:93585491 [GRCh38]
Chr5:92921197 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.35A>G (p.Gln12Arg) single nucleotide variant not provided [RCV002633298] Chr5:93585058 [GRCh38]
Chr5:92920764 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.79G>C (p.Ala27Pro) single nucleotide variant not provided [RCV002633756] Chr5:93585102 [GRCh38]
Chr5:92920808 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys) single nucleotide variant not provided [RCV000298774] Chr5:93585447 [GRCh38]
Chr5:92921153 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.86C>T (p.Ala29Val) single nucleotide variant not provided [RCV002649692] Chr5:93585109 [GRCh38]
Chr5:92920815 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.463+7A>G single nucleotide variant not provided [RCV002606902] Chr5:93585493 [GRCh38]
Chr5:92921199 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.81G>A (p.Ala27=) single nucleotide variant not provided [RCV002642662] Chr5:93585104 [GRCh38]
Chr5:92920810 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.417A>T (p.Gln139His) single nucleotide variant not provided [RCV000275857] Chr5:93585440 [GRCh38]
Chr5:92921146 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.463+5A>C single nucleotide variant not provided [RCV002624147] Chr5:93585491 [GRCh38]
Chr5:92921197 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.14T>C (p.Val5Ala) single nucleotide variant Inborn genetic diseases [RCV002637138]|not provided [RCV002647418] Chr5:93585037 [GRCh38]
Chr5:92920743 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001254042] Chr5:93585350 [GRCh38]
Chr5:92921056 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.134G>C (p.Gly45Ala) single nucleotide variant not provided [RCV002572393] Chr5:93585157 [GRCh38]
Chr5:92920863 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.153G>A (p.Thr51=) single nucleotide variant not provided [RCV002525398]|not specified [RCV000442163] Chr5:93585176 [GRCh38]
Chr5:92920882 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.75C>T (p.Pro25=) single nucleotide variant not provided [RCV002606107] Chr5:93585098 [GRCh38]
Chr5:92920804 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001270370] Chr5:93585475 [GRCh38]
Chr5:92921181 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000416416] Chr5:93585436 [GRCh38]
Chr5:92921142 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.462_463+19del deletion NR2F1-related condition [RCV003393246] Chr5:93585485..93585505 [GRCh38]
Chr5:92921191..92921211 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.365G>C (p.Cys122Ser) single nucleotide variant not provided [RCV000439198] Chr5:93585388 [GRCh38]
Chr5:92921094 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.183C>T (p.Pro61=) single nucleotide variant not provided [RCV001552304]|not specified [RCV000413677] Chr5:93585206 [GRCh38]
Chr5:92920912 [GRCh37]
Chr5:5q15		 likely benign|no classifications from unflagged records
NM_005654.6(NR2F1):c.226G>A (p.Gly76Ser) single nucleotide variant not provided [RCV000421900] Chr5:93585249 [GRCh38]
Chr5:92920955 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter) duplication not provided [RCV001557484] Chr5:93585381..93585382 [GRCh38]
Chr5:92921087..92921088 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.-1588T>C single nucleotide variant not provided [RCV001565132] Chr5:93583436 [GRCh38]
Chr5:92919142 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353109] Chr5:93585309 [GRCh38]
Chr5:92921015 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353111] Chr5:93585105 [GRCh38]
Chr5:92920811 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.-33C>T single nucleotide variant not specified [RCV000434830] Chr5:93584991 [GRCh38]
Chr5:92920697 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.296G>T (p.Gly99Val) single nucleotide variant not provided [RCV003571244] Chr5:93585319 [GRCh38]
Chr5:92921025 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003482194] Chr5:93585026 [GRCh38]
Chr5:92920732 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.393C>T (p.Asp131=) single nucleotide variant not provided [RCV003879321] Chr5:93585416 [GRCh38]
Chr5:92921122 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003883300] Chr5:93585476 [GRCh38]
Chr5:92921182 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.53G>T (p.Gly18Val) single nucleotide variant not provided [RCV003695608] Chr5:93585076 [GRCh38]
Chr5:92920782 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003494604] Chr5:93585363 [GRCh38]
Chr5:92921069 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.173C>A (p.Pro58His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003493108] Chr5:93585196 [GRCh38]
Chr5:92920902 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.246G>A (p.Gln82=) single nucleotide variant not provided [RCV003852272] Chr5:93585269 [GRCh38]
Chr5:92920975 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.348del (p.Asn117fs) deletion not provided [RCV003716860] Chr5:93585370 [GRCh38]
Chr5:92921076 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.60C>T (p.Pro20=) single nucleotide variant not provided [RCV003839274] Chr5:93585083 [GRCh38]
Chr5:92920789 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.59C>A (p.Pro20His) single nucleotide variant not provided [RCV003725948] Chr5:93585082 [GRCh38]
Chr5:92920788 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.303C>T (p.Phe101=) single nucleotide variant not provided [RCV003702730] Chr5:93585326 [GRCh38]
Chr5:92921032 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.76G>T (p.Ala26Ser) single nucleotide variant not provided [RCV003701324] Chr5:93585099 [GRCh38]
Chr5:92920805 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.240_255del (p.Gln81fs) deletion not provided [RCV003557749] Chr5:93585260..93585275 [GRCh38]
Chr5:92920966..92920981 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.191C>T (p.Pro64Leu) single nucleotide variant not provided [RCV003558223] Chr5:93585214 [GRCh38]
Chr5:92920920 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.29A>G (p.Asp10Gly) single nucleotide variant not provided [RCV003700641] Chr5:93585052 [GRCh38]
Chr5:92920758 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.123G>A (p.Gln41=) single nucleotide variant not provided [RCV003723550] Chr5:93585146 [GRCh38]
Chr5:92920852 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del) deletion not provided [RCV003684208] Chr5:93585164..93585172 [GRCh38]
Chr5:92920870..92920878 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.282C>T (p.Ser94=) single nucleotide variant not provided [RCV003864072] Chr5:93585305 [GRCh38]
Chr5:92921011 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.137C>G (p.Ser46Trp) single nucleotide variant not provided [RCV003678135] Chr5:93585160 [GRCh38]
Chr5:92920866 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.184G>C (p.Ala62Pro) single nucleotide variant not provided [RCV003670611] Chr5:93585207 [GRCh38]
Chr5:92920913 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[4] (p.Gly35_Gly36del) microsatellite not provided [RCV003731757] Chr5:93585115..93585120 [GRCh38]
Chr5:92920821..92920826 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.220C>T (p.Pro74Ser) single nucleotide variant not provided [RCV003846008] Chr5:93585243 [GRCh38]
Chr5:92920949 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.384T>C (p.Cys128=) single nucleotide variant not provided [RCV003859710] Chr5:93585407 [GRCh38]
Chr5:92921113 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp) single nucleotide variant NR2F1-related condition [RCV003961562] Chr5:93585307 [GRCh38]
Chr5:92921013 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.404G>A (p.Arg135His) single nucleotide variant Inborn genetic diseases [RCV004491273] Chr5:93585427 [GRCh38]
Chr5:92921133 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.111C>G (p.Ala37=) single nucleotide variant not provided [RCV001545710] Chr5:93585134 [GRCh38]
Chr5:92920840 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala) single nucleotide variant not provided [RCV002301334] Chr5:93585384 [GRCh38]
Chr5:92921090 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92_93delinsAA (p.Arg31Gln) indel not provided [RCV002301513] Chr5:93585115..93585116 [GRCh38]
Chr5:92920821..92920822 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000677703]|Inborn genetic diseases [RCV000624896]|not provided [RCV002285376] Chr5:93585448 [GRCh38]
Chr5:92921154 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.463+99C>G single nucleotide variant not provided [RCV001596530] Chr5:93585585 [GRCh38]
Chr5:92921291 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000114387] Chr5:93585367 [GRCh38]
Chr5:92921073 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_005654.6(NR2F1):c.150C>G (p.His50Gln) single nucleotide variant not provided [RCV002244393] Chr5:93585173 [GRCh38]
Chr5:92920879 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del) microsatellite not provided [RCV002010137] Chr5:93585115..93585123 [GRCh38]
Chr5:92920821..92920829 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[9] (p.Gly34_Gly36dup) microsatellite not provided [RCV001957802] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.101G>T (p.Gly34Val) single nucleotide variant not provided [RCV001761078] Chr5:93585124 [GRCh38]
Chr5:92920830 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.210G>C (p.Lys70Asn) single nucleotide variant not provided [RCV002284942] Chr5:93585233 [GRCh38]
Chr5:92920939 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.351C>A (p.Asn117Lys) single nucleotide variant not provided [RCV001964370] Chr5:93585374 [GRCh38]
Chr5:92921080 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu) single nucleotide variant not specified [RCV002285201] Chr5:93585342 [GRCh38]
Chr5:92921048 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.197C>T (p.Thr66Met) single nucleotide variant not provided [RCV002005534] Chr5:93585220 [GRCh38]
Chr5:92920926 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003985104]|not provided [RCV001732931] Chr5:93585333 [GRCh38]
Chr5:92921039 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) single nucleotide variant See cases [RCV001420226]|not provided [RCV001762676] Chr5:93585343 [GRCh38]
Chr5:92921049 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic|uncertain significance
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001192937] Chr5:93585279 [GRCh38]
Chr5:92920985 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.255G>C (p.Glu85Asp) single nucleotide variant not provided [RCV001995075] Chr5:93585278 [GRCh38]
Chr5:92920984 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.-1761A>G single nucleotide variant not provided [RCV002281245] Chr5:93583263 [GRCh38]
Chr5:92918969 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.63C>A (p.Gly21=) single nucleotide variant not provided [RCV002187909] Chr5:93585086 [GRCh38]
Chr5:92920792 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.114C>T (p.Gly38=) single nucleotide variant not provided [RCV001874451] Chr5:93585137 [GRCh38]
Chr5:92920843 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr) single nucleotide variant Inborn genetic diseases [RCV002692671]|not provided [RCV003228126] Chr5:93585388 [GRCh38]
Chr5:92921094 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002795906] Chr5:93585465 [GRCh38]
Chr5:92921171 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.57C>T (p.Asn19=) single nucleotide variant not provided [RCV002203611] Chr5:93585080 [GRCh38]
Chr5:92920786 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.414C>T (p.Cys138=) single nucleotide variant not provided [RCV002216159] Chr5:93585437 [GRCh38]
Chr5:92921143 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.90C>A (p.Ala30=) single nucleotide variant not provided [RCV002806420] Chr5:93585113 [GRCh38]
Chr5:92920819 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.279G>T (p.Ser93=) single nucleotide variant not provided [RCV002163615] Chr5:93585302 [GRCh38]
Chr5:92921008 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.179C>T (p.Ala60Val) single nucleotide variant Inborn genetic diseases [RCV002722925] Chr5:93585202 [GRCh38]
Chr5:92920908 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.174C>A (p.Pro58=) single nucleotide variant not provided [RCV002216326] Chr5:93585197 [GRCh38]
Chr5:92920903 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.376A>C (p.Arg126=) single nucleotide variant not provided [RCV002141713] Chr5:93585399 [GRCh38]
Chr5:92921105 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.17G>A (p.Ser6Asn) single nucleotide variant not provided [RCV002834148] Chr5:93585040 [GRCh38]
Chr5:92920746 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.291_294dup (p.Gly99fs) duplication not provided [RCV002819908] Chr5:93585313..93585314 [GRCh38]
Chr5:92921019..92921020 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.117G>C (p.Glu39Asp) single nucleotide variant not provided [RCV002710493] Chr5:93585140 [GRCh38]
Chr5:92920846 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs) deletion Inborn genetic diseases [RCV002702241] Chr5:93585113..93585176 [GRCh38]
Chr5:92920819..92920882 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.204G>A (p.Gly68=) single nucleotide variant not provided [RCV002116941] Chr5:93585227 [GRCh38]
Chr5:92920933 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.410A>C (p.Gln137Pro) single nucleotide variant not provided [RCV003023233] Chr5:93585433 [GRCh38]
Chr5:92921139 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.112G>A (p.Gly38Ser) single nucleotide variant not provided [RCV003017883] Chr5:93585135 [GRCh38]
Chr5:92920841 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.233G>C (p.Gly78Ala) single nucleotide variant not provided [RCV002918733] Chr5:93585256 [GRCh38]
Chr5:92920962 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001027649] Chr5:93585476 [GRCh38]
Chr5:92921182 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003314114] Chr5:93585305 [GRCh38]
Chr5:92921011 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del) microsatellite Inborn genetic diseases [RCV002936872]|NR2F1-related condition [RCV003906596]|not provided [RCV003575009] Chr5:93585115..93585117 [GRCh38]
Chr5:92920821..92920823 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.328T>C (p.Phe110Leu) single nucleotide variant not provided [RCV001816396] Chr5:93585351 [GRCh38]
Chr5:92921057 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470454] Chr5:93585367 [GRCh38]
Chr5:92921073 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.429C>T (p.Leu143=) single nucleotide variant not provided [RCV001815942] Chr5:93585452 [GRCh38]
Chr5:92921158 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter) single nucleotide variant not provided [RCV003055101] Chr5:93585144 [GRCh38]
Chr5:92920850 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.354_357del (p.Leu118fs) deletion not provided [RCV000998409] Chr5:93585376..93585379 [GRCh38]
Chr5:92921082..92921085 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470489]|not provided [RCV003775523] Chr5:93585072 [GRCh38]
Chr5:92920778 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002471324] Chr5:93585330 [GRCh38]
Chr5:92921036 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.463+13_463+15del microsatellite not provided [RCV003031006] Chr5:93585495..93585497 [GRCh38]
Chr5:92921201..92921203 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter) single nucleotide variant not provided [RCV000488146] Chr5:93585301 [GRCh38]
Chr5:92921007 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.89_133dup (p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla) duplication not provided [RCV003032946] Chr5:93585103..93585104 [GRCh38]
Chr5:92920809..92920810 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly) microsatellite not provided [RCV003062848] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000200428] Chr5:93585405 [GRCh38]
Chr5:92921111 [GRCh37]
Chr5:5q15		 pathogenic|likely pathogenic
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV002470479] Chr5:93585288 [GRCh38]
Chr5:92920994 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001353108]|Inborn genetic diseases [RCV002518806]|not provided [RCV000334239] Chr5:93585025 [GRCh38]
Chr5:92920731 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.5C>T (p.Ala2Val) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003133073] Chr5:93585028 [GRCh38]
Chr5:92920734 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile) single nucleotide variant not provided [RCV000497695] Chr5:93585346 [GRCh38]
Chr5:92921052 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.69C>T (p.Pro23=) single nucleotide variant not provided [RCV000522625] Chr5:93585092 [GRCh38]
Chr5:92920798 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) single nucleotide variant Global developmental delay [RCV000735394] Chr5:93585288 [GRCh38]
Chr5:92920994 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly) single nucleotide variant See cases [RCV003156192] Chr5:93585447 [GRCh38]
Chr5:92921153 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.85G>A (p.Ala29Thr) single nucleotide variant not provided [RCV003156422] Chr5:93585108 [GRCh38]
Chr5:92920814 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.276G>A (p.Lys92=) single nucleotide variant not provided [RCV000924182]|not specified [RCV000616949] Chr5:93585299 [GRCh38]
Chr5:92921005 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003148230] Chr5:93585289 [GRCh38]
Chr5:92920995 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.162C>A (p.Thr54=) single nucleotide variant not provided [RCV000712442]|not specified [RCV000425536] Chr5:93585185 [GRCh38]
Chr5:92920891 [GRCh37]
Chr5:5q15		 benign
NM_005654.6(NR2F1):c.-187G>A single nucleotide variant not provided [RCV000835781] Chr5:93584837 [GRCh38]
Chr5:92920543 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.99C>A (p.Gly33=) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003133072] Chr5:93585122 [GRCh38]
Chr5:92920828 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.48C>T (p.Ala16=) single nucleotide variant not provided [RCV000841311] Chr5:93585071 [GRCh38]
Chr5:92920777 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile) single nucleotide variant not provided [RCV000762150] Chr5:93585262 [GRCh38]
Chr5:92920968 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.262G>A (p.Val88Met) single nucleotide variant not provided [RCV000255287] Chr5:93585285 [GRCh38]
Chr5:92920991 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.40G>T (p.Asp14Tyr) single nucleotide variant Inborn genetic diseases [RCV004028298]|not provided [RCV000880785] Chr5:93585063 [GRCh38]
Chr5:92920769 [GRCh37]
Chr5:5q15		 likely benign|uncertain significance
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000824821] Chr5:93585312 [GRCh38]
Chr5:92921018 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.237G>C (p.Gln79His) single nucleotide variant not provided [RCV000836217] Chr5:93585260 [GRCh38]
Chr5:92920966 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV000505484] Chr5:93585280 [GRCh38]
Chr5:92920986 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.391G>A (p.Asp131Asn) single nucleotide variant not provided [RCV002263385] Chr5:93585414 [GRCh38]
Chr5:92921120 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.335G>C (p.Arg112Thr) single nucleotide variant not provided [RCV002293121] Chr5:93585358 [GRCh38]
Chr5:92921064 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.459G>T (p.Arg153=) single nucleotide variant not provided [RCV000578574] Chr5:93585482 [GRCh38]
Chr5:92921188 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup) microsatellite not provided [RCV000658342] Chr5:93585114..93585115 [GRCh38]
Chr5:92920820..92920821 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.463+6T>C single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV003226035] Chr5:93585492 [GRCh38]
Chr5:92921198 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.165G>C (p.Pro55=) single nucleotide variant not provided [RCV001707816] Chr5:93585188 [GRCh38]
Chr5:92920894 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.165G>A (p.Pro55=) single nucleotide variant not provided [RCV002643045] Chr5:93585188 [GRCh38]
Chr5:92920894 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.192C>T (p.Pro64=) single nucleotide variant not provided [RCV001698271] Chr5:93585215 [GRCh38]
Chr5:92920921 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001253426] Chr5:93585460 [GRCh38]
Chr5:92921166 [GRCh37]
Chr5:5q15		 conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.114C>A (p.Gly38=) single nucleotide variant not provided [RCV002608945] Chr5:93585137 [GRCh38]
Chr5:92920843 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup) duplication Inborn genetic diseases [RCV002529373]|not provided [RCV001370383] Chr5:93585127..93585128 [GRCh38]
Chr5:92920833..92920834 [GRCh37]
Chr5:5q15		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) single nucleotide variant Inborn genetic diseases [RCV000623144] Chr5:93585448 [GRCh38]
Chr5:92921154 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.162C>T (p.Thr54=) single nucleotide variant not specified [RCV000600991] Chr5:93585185 [GRCh38]
Chr5:92920891 [GRCh37]
Chr5:5q15		 likely benign
NM_005654.6(NR2F1):c.395A>G (p.Gln132Arg) single nucleotide variant not provided [RCV003225288] Chr5:93585418 [GRCh38]
Chr5:92921124 [GRCh37]
Chr5:5q15		 uncertain significance
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr) single nucleotide variant Bosch-Boonstra-Schaaf optic atrophy syndrome [RCV001004747] Chr5:93585475 [GRCh38]
Chr5:92921181 [GRCh37]
Chr5:5q15		 likely pathogenic
NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter) single nucleotide variant not provided [RCV000760776] Chr5:93585376 [GRCh38]
Chr5:92921082 [GRCh37]
Chr5:5q15		 pathogenic
NM_005654.6(NR2F1):c.20G>A (p.Ser7Asn) single nucleotide variant not provided [RCV001552700] Chr5:93585043 [GRCh38]
Chr5:92920749 [GRCh37]
Chr5:5q15		 benign|likely benign
NM_005654.6(NR2F1):c.-1751CT[11] microsatellite not provided [RCV001545567] Chr5:93583272..93583273 [GRCh38]
Chr5:92918978..92918979 [GRCh37]
Chr5:5q15		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1465
Count of miRNA genes:667
Interacting mature miRNAs:734
Transcripts:ENST00000503134, ENST00000504474, ENST00000507963, ENST00000510254, ENST00000513055, ENST00000606165, ENST00000606188, ENST00000606233, ENST00000606696, ENST00000606739, ENST00000607112, ENST00000607195, ENST00000607797, ENST00000607831
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
RH66621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,886,723 - 92,886,905UniSTSGRCh37
Build 36592,912,479 - 92,912,661RGDNCBI36
Celera588,745,778 - 88,745,960RGD
Cytogenetic Map5q15UniSTS
HuRef588,059,886 - 88,060,068UniSTS
GeneMap99-GB4 RH Map5411.66UniSTS
RH92161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,773,647 - 92,773,788UniSTSGRCh37
Build 36592,799,403 - 92,799,544RGDNCBI36
Celera588,632,709 - 88,632,850RGD
Cytogenetic Map5q15UniSTS
HuRef587,947,017 - 87,947,158UniSTS
GeneMap99-GB4 RH Map5409.56UniSTS
RH103116  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,745,576 - 92,745,705UniSTSGRCh37
Build 36592,771,332 - 92,771,461RGDNCBI36
Celera588,604,638 - 88,604,767RGD
Cytogenetic Map5q15UniSTS
HuRef587,918,947 - 87,919,076UniSTS
GeneMap99-GB4 RH Map5409.06UniSTS
RH103786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,746,937 - 92,747,064UniSTSGRCh37
Build 36592,772,693 - 92,772,820RGDNCBI36
Celera588,605,999 - 88,606,126RGD
Cytogenetic Map5q15UniSTS
HuRef587,920,308 - 87,920,435UniSTS
GeneMap99-GB4 RH Map5409.99UniSTS
SHGC-84092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,868,597 - 92,868,885UniSTSGRCh37
Build 36592,894,353 - 92,894,641RGDNCBI36
Celera588,727,652 - 88,727,940RGD
Cytogenetic Map5q15UniSTS
HuRef588,041,760 - 88,042,048UniSTS
TNG Radiation Hybrid Map541888.0UniSTS
WI-16374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,764,037 - 92,764,163UniSTSGRCh37
Build 36592,789,793 - 92,789,919RGDNCBI36
Celera588,623,099 - 88,623,225RGD
Cytogenetic Map5q15UniSTS
HuRef587,937,407 - 87,937,533UniSTS
GeneMap99-GB4 RH Map5409.14UniSTS
Whitehead-RH Map5304.1UniSTS
REN79972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,318,975 - 33,319,203UniSTSGRCh37
GRCh3711115,433,142 - 115,433,274UniSTSGRCh37
Build 3611114,938,352 - 114,938,484RGDNCBI36
Celera2217,120,952 - 17,121,180UniSTS
Celera11112,588,491 - 112,588,623RGD
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q12.3UniSTS
HuRef2216,276,581 - 16,276,809UniSTS
HuRef588,000,704 - 88,000,838UniSTS
SHGC-2404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37592,745,086 - 92,745,293UniSTSGRCh37
Build 36592,770,842 - 92,771,049RGDNCBI36
Celera588,604,148 - 88,604,355RGD
Cytogenetic Map5q15UniSTS
HuRef587,918,457 - 87,918,664UniSTS
Stanford-G3 RH Map53769.0UniSTS
GeneMap99-GB4 RH Map5408.96UniSTS
Whitehead-RH Map5304.2UniSTS
NCBI RH Map5582.4UniSTS
GeneMap99-G3 RH Map53764.0UniSTS


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
High
Medium 32 14 5 3 6 99 6 778 21 169 39 24 95
Low 2140 1310 1534 337 520 295 2464 942 2942 311 1224 1508 53 1 1177 1343 2
Below cutoff 237 1369 175 280 834 164 1757 1195 13 80 48 56 120 3 1316 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NR_021490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_021491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_109825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW194934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA107272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA718791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB168614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB257894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC298450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY108556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000503134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,088 - 93,581,199 (-)Ensembl
RefSeq Acc Id: ENST00000504474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,872 - 93,581,297 (-)Ensembl
RefSeq Acc Id: ENST00000507963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,553,753 - 93,581,055 (-)Ensembl
RefSeq Acc Id: ENST00000510254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,396 - 93,581,043 (-)Ensembl
RefSeq Acc Id: ENST00000513055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,018 - 93,585,599 (-)Ensembl
RefSeq Acc Id: ENST00000606165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,018 - 93,423,242 (-)Ensembl
RefSeq Acc Id: ENST00000606188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,838 - 93,422,335 (-)Ensembl
RefSeq Acc Id: ENST00000606233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,809 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000606696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,882 - 93,581,263 (-)Ensembl
RefSeq Acc Id: ENST00000606739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,021 - 93,570,819 (-)Ensembl
RefSeq Acc Id: ENST00000607112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,402 - 93,422,413 (-)Ensembl
RefSeq Acc Id: ENST00000607195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,033 - 93,422,423 (-)Ensembl
RefSeq Acc Id: ENST00000607797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,359 - 93,570,793 (-)Ensembl
RefSeq Acc Id: ENST00000607831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,447 - 93,571,343 (-)Ensembl
RefSeq Acc Id: ENST00000652888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,066 - 93,581,199 (-)Ensembl
RefSeq Acc Id: ENST00000653133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,373 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000653235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,083 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000653284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,088 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000653325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000653419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,372 - 93,581,025 (-)Ensembl
RefSeq Acc Id: ENST00000653510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,432,371 - 93,580,794 (-)Ensembl
RefSeq Acc Id: ENST00000653598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,394,957 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000653643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,537,093 - 93,581,205 (-)Ensembl
RefSeq Acc Id: ENST00000654055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,366 - 93,581,527 (-)Ensembl
RefSeq Acc Id: ENST00000654431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,377 - 93,581,315 (-)Ensembl
RefSeq Acc Id: ENST00000654617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,390 - 93,581,460 (-)Ensembl
RefSeq Acc Id: ENST00000654862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,840 - 93,504,726 (-)Ensembl
RefSeq Acc Id: ENST00000655454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,411,088 - 93,581,192 (-)Ensembl
RefSeq Acc Id: ENST00000655613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,436,026 - 93,581,021 (-)Ensembl
RefSeq Acc Id: ENST00000656079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,556 - 93,581,242 (-)Ensembl
RefSeq Acc Id: ENST00000656155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,377 - 93,585,589 (-)Ensembl
RefSeq Acc Id: ENST00000656231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,569,988 (-)Ensembl
RefSeq Acc Id: ENST00000656357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,827 - 93,422,369 (-)Ensembl
RefSeq Acc Id: ENST00000656921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,570,575 (-)Ensembl
RefSeq Acc Id: ENST00000657648
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,871 - 93,585,534 (-)Ensembl
RefSeq Acc Id: ENST00000658662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,377 - 93,581,235 (-)Ensembl
RefSeq Acc Id: ENST00000659013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,543,459 - 93,570,505 (-)Ensembl
RefSeq Acc Id: ENST00000659336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,585,622 (-)Ensembl
RefSeq Acc Id: ENST00000659381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,470 - 93,585,627 (-)Ensembl
RefSeq Acc Id: ENST00000659983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,493 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000660272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,841 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000660523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,360,779 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000660787
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,828 - 93,581,209 (-)Ensembl
RefSeq Acc Id: ENST00000661182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,872 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000661345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,382 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000661573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,882 - 93,585,381 (-)Ensembl
RefSeq Acc Id: ENST00000661661
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,375 - 93,555,425 (-)Ensembl
RefSeq Acc Id: ENST00000661870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,540 - 93,585,637 (-)Ensembl
RefSeq Acc Id: ENST00000663076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,894 - 93,581,199 (-)Ensembl
RefSeq Acc Id: ENST00000663096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,456,690 - 93,581,200 (-)Ensembl
RefSeq Acc Id: ENST00000664017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,357 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000664135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,377 - 93,581,233 (-)Ensembl
RefSeq Acc Id: ENST00000664168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,437,830 - 93,585,589 (-)Ensembl
RefSeq Acc Id: ENST00000664241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,872 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000664359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,874 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000665047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,871 - 93,581,242 (-)Ensembl
RefSeq Acc Id: ENST00000665095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,828 - 93,581,055 (-)Ensembl
RefSeq Acc Id: ENST00000665725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,838 - 93,581,032 (-)Ensembl
RefSeq Acc Id: ENST00000665798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000666033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,585,649 (-)Ensembl
RefSeq Acc Id: ENST00000666791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,563,994 (-)Ensembl
RefSeq Acc Id: ENST00000666995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,410,040 - 93,423,244 (-)Ensembl
RefSeq Acc Id: ENST00000667268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,420,956 - 93,581,025 (-)Ensembl
RefSeq Acc Id: ENST00000667752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,382 - 93,433,077 (-)Ensembl
RefSeq Acc Id: ENST00000668988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,882 - 93,581,214 (-)Ensembl
RefSeq Acc Id: ENST00000669203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,872 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000669221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,372 - 93,581,025 (-)Ensembl
RefSeq Acc Id: ENST00000670457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,827 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000670690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,882 - 93,570,363 (-)Ensembl
RefSeq Acc Id: ENST00000670693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,495,304 - 93,580,779 (-)Ensembl
RefSeq Acc Id: ENST00000670813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,541,882 - 93,585,648 (-)Ensembl
RefSeq Acc Id: ENST00000671166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,982 - 93,581,025 (-)Ensembl
RefSeq Acc Id: ENST00000671432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,581,325 (-)Ensembl
RefSeq Acc Id: ENST00000671514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,367 - 93,581,552 (-)Ensembl
RefSeq Acc Id: ENST00000671683
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl593,409,356 - 93,581,300 (-)Ensembl
RefSeq Acc Id: NR_021490
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,581,219 (-)NCBI
GRCh37592,745,065 - 92,917,003 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,310,387 - 92,349,832 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_021491
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
GRCh37592,745,065 - 92,917,003 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,349,832 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109818
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,310,387 - 92,349,832 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109819
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,310,387 - 92,349,832 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109820
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,349,832 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109821
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,349,832 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109822
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,349,832 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109823
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,349,832 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109824
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,349,832 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
Sequence:
RefSeq Acc Id: NR_109825
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,570,825 (-)NCBI
HuRef587,918,433 - 88,090,187 (-)NCBI
CHM1_1592,177,869 - 92,339,855 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,054,904 (-)NCBI
Sequence:
RefSeq Acc Id: NR_186182
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,456,640 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,940,729 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186183
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,581,219 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186184
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186185
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186186
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186187
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186188
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186189
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186190
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186191
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186192
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186193
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186194
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186195
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,435,958 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,920,046 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186196
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186197
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,435,958 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,920,046 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186198
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186199
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186200
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,581,219 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,065,298 (-)NCBI
RefSeq Acc Id: NR_186201
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,579,858 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,063,937 (-)NCBI
RefSeq Acc Id: NR_186202
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,579,858 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,063,937 (-)NCBI
RefSeq Acc Id: NR_186203
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,456,640 - 93,579,858 (-)NCBI
T2T-CHM13v2.0593,940,729 - 94,063,937 (-)NCBI
RefSeq Acc Id: NR_186204
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,570,825 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,054,904 (-)NCBI
RefSeq Acc Id: NR_186205
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,570,825 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,054,904 (-)NCBI
RefSeq Acc Id: NR_186206
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,570,825 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,054,904 (-)NCBI
RefSeq Acc Id: NR_186207
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,564,018 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,048,099 (-)NCBI
RefSeq Acc Id: NR_186209
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,564,018 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,048,099 (-)NCBI
RefSeq Acc Id: NR_186210
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,564,018 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,048,099 (-)NCBI
RefSeq Acc Id: NR_186211
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,435,958 - 93,564,018 (-)NCBI
T2T-CHM13v2.0593,920,046 - 94,048,099 (-)NCBI
RefSeq Acc Id: NR_186212
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,541,872 - 93,584,444 (-)NCBI
T2T-CHM13v2.0594,025,953 - 94,068,507 (-)NCBI
RefSeq Acc Id: NR_186213
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,584,444 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,068,507 (-)NCBI
RefSeq Acc Id: NR_186214
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,584,444 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,068,507 (-)NCBI
RefSeq Acc Id: NR_186215
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186216
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186217
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186218
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186219
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,435,958 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,920,046 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186220
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,435,958 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,920,046 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186221
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBI
RefSeq Acc Id: NR_186222
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,409,356 - 93,585,589 (-)NCBI
T2T-CHM13v2.0593,893,440 - 94,069,652 (-)NCBI
Protein Sequences
GenBank Protein BAG58990 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences

Promoters
RGD ID:15096051
Promoter ID:EPDNEWNC_H754
Type:initiation region
Name:NR2F1-AS1_2
Description:NR2F1 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:48622]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,422,432 - 93,422,492EPDNEWNC
RGD ID:15095913
Promoter ID:EPDNEWNC_H755
Type:initiation region
Name:NR2F1-AS1_4
Description:NR2F1 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:48622]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,570,820 - 93,570,880EPDNEWNC
RGD ID:15095914
Promoter ID:EPDNEWNC_H756
Type:initiation region
Name:NR2F1-AS1_1
Description:NR2F1 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:48622]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,581,046 - 93,581,106EPDNEWNC
RGD ID:15095915
Promoter ID:EPDNEWNC_H757
Type:initiation region
Name:NR2F1-AS1_3
Description:NR2F1 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:48622]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38593,585,631 - 93,585,691EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC NR2F1-AS1 COSMIC
Ensembl Genes ENSG00000237187 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000504474 ENTREZGENE
  ENST00000510254 ENTREZGENE
  ENST00000607797 ENTREZGENE
  ENST00000653133 ENTREZGENE
  ENST00000654431 ENTREZGENE
  ENST00000655613 ENTREZGENE
  ENST00000656079 ENTREZGENE
  ENST00000656155 ENTREZGENE
  ENST00000656921 ENTREZGENE
  ENST00000657648 ENTREZGENE
  ENST00000658662 ENTREZGENE
  ENST00000659381 ENTREZGENE
  ENST00000659983 ENTREZGENE
  ENST00000660787 ENTREZGENE
  ENST00000661182 ENTREZGENE
  ENST00000661345 ENTREZGENE
  ENST00000661870 ENTREZGENE
  ENST00000663096 ENTREZGENE
  ENST00000664017 ENTREZGENE
  ENST00000665798 ENTREZGENE
  ENST00000666791 ENTREZGENE
  ENST00000671432 ENTREZGENE
  ENST00000671514 ENTREZGENE
  ENST00000671683 ENTREZGENE
GTEx ENSG00000237187 GTEx
HGNC ID HGNC:48622 ENTREZGENE
Human Proteome Map NR2F1-AS1 Human Proteome Map
NCBI Gene NR2F1-AS1 ENTREZGENE
RNAcentral URS0000D5A473 RNACentral
  URS00026A19DD RNACentral
  URS00026A19E1 RNACentral
  URS00026A1A1A RNACentral
  URS00026A1A62 RNACentral
  URS00026A1B44 RNACentral
  URS00026A1B77 RNACentral
  URS00026A1C0E RNACentral
  URS00026A1C54 RNACentral
  URS00026A1C56 RNACentral
  URS00026A1CA1 RNACentral
  URS00026A1CBC RNACentral
  URS00026A1D5F RNACentral
  URS00026A1DC0 RNACentral
  URS00026A1DDB RNACentral
  URS00026A1E29 RNACentral
  URS00026A1EA9 RNACentral
  URS00026A1F00 RNACentral
  URS00026A1F55 RNACentral
  URS00026A1FFD RNACentral
  URS00026A204B RNACentral
  URS00026A2066 RNACentral
  URS00026A2072 RNACentral
  URS00026A209F RNACentral
  URS00026A20B3 RNACentral
  URS00026A20F4 RNACentral
  URS00026A2101 RNACentral
  URS00026A2108 RNACentral
  URS00026A213D RNACentral
  URS00026A2199 RNACentral
  URS00026A2221 RNACentral
  URS00026A2239 RNACentral
  URS00026A229F RNACentral
  URS00026A22B8 RNACentral
  URS00026A238E RNACentral
  URS00026A23DE RNACentral
  URS00026A23F8 RNACentral
  URS00026A247F RNACentral
  URS00026A24D1 RNACentral
  URS00026A252B RNACentral
  URS00026A2530 RNACentral
  URS00026A2541 RNACentral
  URS00026A2557 RNACentral
  URS00026A255D RNACentral
  URS00026A256F RNACentral
  URS00026A262C RNACentral
  URS00026A2684 RNACentral
  URS00026A2704 RNACentral
  URS00026A283E RNACentral
  URS00026A2875 RNACentral