N6AMT1 (N-6 adenine-specific DNA methyltransferase 1) - Rat Genome Database

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Gene: N6AMT1 (N-6 adenine-specific DNA methyltransferase 1) Homo sapiens
Analyze
Symbol: N6AMT1
Name: N-6 adenine-specific DNA methyltransferase 1
RGD ID: 1323512
HGNC Page HGNC:16021
Description: Enables S-adenosyl-L-methionine binding activity and S-adenosylmethionine-dependent methyltransferase activity. Involved in several processes, including arsonoacetate metabolic process; epigenetic regulation of gene expression; and peptidyl-glutamine methylation. Acts upstream of or within positive regulation of cell growth. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C21orf127; chromosome 21 open reading frame 127; FLJ11616; hemK methyltransferase family member 2; HEMK2; KMT9; lysine N-methyltransferase 9; m.HsaHemK2P; methylarsonite methyltransferase N6AMT1; methyltransferase N6AMT1; MGC19995; MTQ2; n(6)-adenine-specific DNA methyltransferase 1; N-6 adenine-specific DNA methyltransferase 1 (putative); N6-DNA-methyltransferase; N6AMT; PRED28; PrmC
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC642897  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382128,575,598 - 28,885,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2128,872,191 - 28,885,371 (-)EnsemblGRCh38hg38GRCh38
GRCh372130,244,513 - 30,257,689 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362129,166,384 - 29,179,564 (-)NCBINCBI36Build 36hg18NCBI36
Celera2115,427,774 - 15,440,965 (-)NCBICelera
Cytogenetic Map21q21.3NCBI
HuRef2115,649,537 - 15,662,924 (-)NCBIHuRef
CHM1_12129,806,890 - 29,820,072 (-)NCBICHM1_1
T2T-CHM13v2.02127,235,374 - 27,248,586 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:10830953   PMID:12477932   PMID:14702039   PMID:15342556   PMID:18539146   PMID:20379614   PMID:21193388   PMID:21873635   PMID:23665909   PMID:25851604   PMID:25997655  
PMID:26496610   PMID:27637898   PMID:28640505   PMID:29954144   PMID:30017583   PMID:30232004   PMID:30392959   PMID:31061526   PMID:31466382   PMID:31632689   PMID:31636962   PMID:32969463  
PMID:34373451   PMID:34737213   PMID:34948388   PMID:35256595   PMID:35256949   PMID:36681142   PMID:37848033   PMID:38284488  


Genomics

Comparative Map Data
N6AMT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382128,575,598 - 28,885,367 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2128,872,191 - 28,885,371 (-)EnsemblGRCh38hg38GRCh38
GRCh372130,244,513 - 30,257,689 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362129,166,384 - 29,179,564 (-)NCBINCBI36Build 36hg18NCBI36
Celera2115,427,774 - 15,440,965 (-)NCBICelera
Cytogenetic Map21q21.3NCBI
HuRef2115,649,537 - 15,662,924 (-)NCBIHuRef
CHM1_12129,806,890 - 29,820,072 (-)NCBICHM1_1
T2T-CHM13v2.02127,235,374 - 27,248,586 (-)NCBIT2T-CHM13v2.0
N6amt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391687,151,073 - 87,165,537 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1687,151,073 - 87,165,630 (+)EnsemblGRCm39 Ensembl
GRCm381687,354,185 - 87,368,649 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1687,354,185 - 87,368,742 (+)EnsemblGRCm38mm10GRCm38
MGSCv371687,354,430 - 87,368,894 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361687,243,381 - 87,257,845 (+)NCBIMGSCv36mm8
Celera1687,539,465 - 87,553,925 (+)NCBICelera
Cytogenetic Map16C3.3NCBI
cM Map1649.52NCBI
N6amt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81140,071,017 - 40,083,463 (+)NCBIGRCr8
mRatBN7.21126,584,750 - 26,597,790 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1126,584,724 - 26,608,248 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1135,282,689 - 35,295,029 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01127,982,937 - 27,995,276 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01127,171,867 - 27,184,209 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01127,004,335 - 27,016,690 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1127,004,320 - 27,016,941 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01130,629,574 - 30,641,929 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41127,107,106 - 27,119,552 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11127,107,109 - 27,119,546 (+)NCBI
Celera1126,337,923 - 26,356,638 (+)NCBICelera
Cytogenetic Map11q11NCBI
N6amt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540728,256,649 - 28,276,460 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540728,256,654 - 28,277,514 (+)NCBIChiLan1.0ChiLan1.0
N6AMT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22224,764,439 - 25,067,011 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12119,621,921 - 19,925,542 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02115,303,430 - 15,316,596 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12128,691,847 - 28,704,745 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2128,694,294 - 28,704,745 (-)Ensemblpanpan1.1panPan2
N6AMT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13123,895,558 - 23,934,183 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3123,895,584 - 23,909,940 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3123,888,155 - 23,926,785 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03124,008,039 - 24,046,658 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3124,008,051 - 24,024,515 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13123,959,405 - 23,997,823 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03123,961,154 - 23,999,634 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03124,432,448 - 24,471,137 (+)NCBIUU_Cfam_GSD_1.0
N6amt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497124,368,003 - 24,381,211 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650013,084,595 - 13,099,844 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650013,086,873 - 13,099,814 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
N6AMT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13192,249,246 - 192,265,629 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113192,248,511 - 192,265,923 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213202,558,051 - 202,782,210 (+)NCBISscrofa10.2Sscrofa10.2susScr3
N6AMT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1263,348,897 - 63,363,709 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl263,348,745 - 63,363,090 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660715,935,090 - 5,950,770 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
N6amt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474516,908,686 - 16,920,351 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474516,908,683 - 16,922,941 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in N6AMT1
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1 copy number loss See cases [RCV000052798] Chr21:13194345..29257208 [GRCh38]
Chr21:14566666..30629529 [GRCh37]
Chr21:13488537..29551400 [NCBI36]
Chr21:21q11.2-21.3
pathogenic
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_013240.5(N6AMT1):c.49G>A (p.Gly17Ser) single nucleotide variant Malignant melanoma [RCV000072799] Chr21:28885297 [GRCh38]
Chr21:30257619 [GRCh37]
Chr21:29179490 [NCBI36]
Chr21:21q21.3
not provided
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 copy number loss See cases [RCV000142217] Chr21:19423169..31841150 [GRCh38]
Chr21:20795486..33213462 [GRCh37]
Chr21:19717357..32135333 [NCBI36]
Chr21:21q21.1-22.11
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1 copy number loss See cases [RCV000143779] Chr21:26773248..29573178 [GRCh38]
Chr21:28145567..30945498 [GRCh37]
Chr21:27067438..29867369 [NCBI36]
Chr21:21q21.3
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q21.3(chr21:28268147-28703164)x1 copy number loss See cases [RCV000142318] Chr21:28268147..28703164 [GRCh38]
Chr21:29640466..30075486 [GRCh37]
Chr21:28562337..28997357 [NCBI36]
Chr21:21q21.3
uncertain significance
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) copy number loss Monosomy 21 [RCV000225665] Chr21:21754822..32380347 [GRCh38]
Chr21:21q21.1-22.11
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3(chr21:30120768-30533959)x1 copy number loss See cases [RCV000510889] Chr21:30120768..30533959 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.623T>C (p.Val208Ala) single nucleotide variant not specified [RCV004310902] Chr21:28876407 [GRCh38]
Chr21:30248729 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3 copy number gain not provided [RCV000741530] Chr21:30214872..34896962 [GRCh37]
Chr21:21q21.3-22.11
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1 copy number loss not provided [RCV001007118] Chr21:27826100..32468109 [GRCh37]
Chr21:21q21.3-22.11
pathogenic
GRCh37/hg19 21q21.3(chr21:29859153-30437842)x3 copy number gain not provided [RCV000846888] Chr21:29859153..30437842 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_013240.6(N6AMT1):c.89T>A (p.Phe30Tyr) single nucleotide variant not specified [RCV004306848] Chr21:28885257 [GRCh38]
Chr21:30257579 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3(chr21:30178276-30550204) copy number gain not specified [RCV002052730] Chr21:30178276..30550204 [GRCh37]
Chr21:21q21.3
uncertain significance
Single allele duplication not specified [RCV002286385] Chr21:28158347..29192300 [GRCh38]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004233787] Chr21:28885341 [GRCh38]
Chr21:30257663 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.382A>C (p.Thr128Pro) single nucleotide variant not specified [RCV004108377] Chr21:28879884 [GRCh38]
Chr21:30252206 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3 copy number gain not provided [RCV002475687] Chr21:29243314..32472073 [GRCh37]
Chr21:21q21.3-22.11
uncertain significance
NM_013240.6(N6AMT1):c.328C>T (p.Pro110Ser) single nucleotide variant not specified [RCV004109488] Chr21:28879938 [GRCh38]
Chr21:30252260 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.160T>G (p.Ser54Ala) single nucleotide variant not specified [RCV004163854] Chr21:28883046 [GRCh38]
Chr21:30255368 [GRCh37]
Chr21:21q21.3
likely benign
NM_013240.6(N6AMT1):c.358G>A (p.Val120Met) single nucleotide variant not specified [RCV004116486] Chr21:28879908 [GRCh38]
Chr21:30252230 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.379G>C (p.Val127Leu) single nucleotide variant not specified [RCV004170526] Chr21:28879887 [GRCh38]
Chr21:30252209 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.22A>G (p.Thr8Ala) single nucleotide variant not specified [RCV004155782] Chr21:28885324 [GRCh38]
Chr21:30257646 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.457G>A (p.Asp153Asn) single nucleotide variant not specified [RCV004206438] Chr21:28878273 [GRCh38]
Chr21:30250595 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.77C>T (p.Ala26Val) single nucleotide variant not specified [RCV004105153] Chr21:28885269 [GRCh38]
Chr21:30257591 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.113C>A (p.Ala38Glu) single nucleotide variant not specified [RCV004190267] Chr21:28885233 [GRCh38]
Chr21:30257555 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.529A>G (p.Asn177Asp) single nucleotide variant not specified [RCV004259687] Chr21:28878201 [GRCh38]
Chr21:30250523 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.74C>T (p.Pro25Leu) single nucleotide variant not specified [RCV004338832] Chr21:28885272 [GRCh38]
Chr21:30257594 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.127C>G (p.Leu43Val) single nucleotide variant not specified [RCV004366202] Chr21:28885219 [GRCh38]
Chr21:30257541 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3 copy number gain not provided [RCV003485220] Chr21:20408138..32852758 [GRCh37]
Chr21:21q21.1-22.11
pathogenic
GRCh37/hg19 21q21.1-21.3(chr21:21437700-30474088)x3 copy number gain not provided [RCV003485221] Chr21:21437700..30474088 [GRCh37]
Chr21:21q21.1-21.3
pathogenic
NM_013240.6(N6AMT1):c.479C>T (p.Pro160Leu) single nucleotide variant not provided [RCV003431448] Chr21:28878251 [GRCh38]
Chr21:30250573 [GRCh37]
Chr21:21q21.3
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
NM_013240.6(N6AMT1):c.409G>A (p.Gly137Arg) single nucleotide variant not specified [RCV004465515] Chr21:28878321 [GRCh38]
Chr21:30250643 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_013240.6(N6AMT1):c.37C>A (p.His13Asn) single nucleotide variant not specified [RCV004465508] Chr21:28885309 [GRCh38]
Chr21:30257631 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.53C>G (p.Ala18Gly) single nucleotide variant not specified [RCV004465527] Chr21:28885293 [GRCh38]
Chr21:30257615 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.383C>G (p.Thr128Ser) single nucleotide variant not specified [RCV004641100] Chr21:28879883 [GRCh38]
Chr21:30252205 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.15C>G (p.Asn5Lys) single nucleotide variant not specified [RCV004641101] Chr21:28885331 [GRCh38]
Chr21:30257653 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.13A>G (p.Asn5Asp) single nucleotide variant not specified [RCV004652180] Chr21:28885333 [GRCh38]
Chr21:30257655 [GRCh37]
Chr21:21q21.3
uncertain significance
NM_013240.6(N6AMT1):c.371C>G (p.Pro124Arg) single nucleotide variant not specified [RCV004230832] Chr21:28879895 [GRCh38]
Chr21:30252217 [GRCh37]
Chr21:21q21.3
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_013240.6(N6AMT1):c.19G>A (p.Ala7Thr) single nucleotide variant not specified [RCV004291130] Chr21:28885327 [GRCh38]
Chr21:30257649 [GRCh37]
Chr21:21q21.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3312
Count of miRNA genes:877
Interacting mature miRNAs:1044
Transcripts:ENST00000303775, ENST00000351429, ENST00000460212
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597367258GWAS1463332_Hpulse pressure measurement QTL GWAS1463332 (human)4e-16pulse pressure measurementpulse pressure (CMO:0000292)212875358628753587Human
597100053GWAS1196127_Hserum alanine aminotransferase measurement QTL GWAS1196127 (human)2e-09serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)212876098928760990Human
597067027GWAS1163101_Hsusceptibility to hepatitis A infection measurement QTL GWAS1163101 (human)0.000006susceptibility to hepatitis A infection measurement212879744028797442Human
597253329GWAS1349403_Hserum gamma-glutamyl transferase measurement QTL GWAS1349403 (human)2e-19serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)212873029628730297Human
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
597305297GWAS1401371_Hpulse pressure measurement QTL GWAS1401371 (human)1e-14pulse pressure measurementpulse pressure (CMO:0000292)212875955028759551Human
597503313GWAS1599387_Htrait in response to apixaban QTL GWAS1599387 (human)2e-08trait in response to apixaban212879452128794522Human
597229387GWAS1325461_Hglomerular filtration rate, renal transplant outcome measurement QTL GWAS1325461 (human)0.000001glomerular filtration rate, renal transplant outcome measurementglomerular filtration rate (CMO:0000490)212888523828885239Human
597534985GWAS1631059_Hbody height QTL GWAS1631059 (human)1e-10body height (VT:0001253)body height (CMO:0000106)212858803928588040Human
597341763GWAS1437837_Hserum gamma-glutamyl transferase measurement QTL GWAS1437837 (human)5e-20serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)212873029628730297Human
407225054GWAS874030_Hcholesteryl ester 18:1 measurement QTL GWAS874030 (human)0.0000006blood lipid amount (VT:0003949)212872702528727026Human
597315201GWAS1411275_Hretinal vasculature measurement QTL GWAS1411275 (human)3e-08retina blood vessel morphology trait (VT:0002792)212885597228855973Human
597502144GWAS1598218_Hbody height QTL GWAS1598218 (human)3e-08body height (VT:0001253)body height (CMO:0000106)212883517228835173Human
597202887GWAS1298961_Hdiastolic blood pressure QTL GWAS1298961 (human)0.0000007diastolic blood pressurediastolic blood pressure (CMO:0000005)212875955028759551Human
597092407GWAS1188481_HAlzheimer disease, age at onset QTL GWAS1188481 (human)0.0000004Alzheimer disease, age at onset212870210228702103Human
597164857GWAS1260931_Hlipid measurement QTL GWAS1260931 (human)0.000004lipid measurementblood lipid measurement (CMO:0000050)212876869928768700Human
597445817GWAS1541891_Hlifestyle measurement, maximum cigarettes per day measurement QTL GWAS1541891 (human)0.0000005lifestyle measurement, maximum cigarettes per day measurement212883131928831320Human
597319420GWAS1415494_HQRS duration QTL GWAS1415494 (human)6e-10QRS durationQRS duration (CMO:0000267)212878261628782617Human
597590392GWAS1647252_Hhyperpituitarism QTL GWAS1647252 (human)3e-12hyperpituitarism212886583528865836Human
597217663GWAS1313737_Hpulse pressure measurement QTL GWAS1313737 (human)6e-18pulse pressure measurementpulse pressure (CMO:0000292)212875955028759551Human
596979704GWAS1099223_Hbody height QTL GWAS1099223 (human)2e-09body height (VT:0001253)body height (CMO:0000106)212873988528739886Human
597412853GWAS1508927_Huterine fibroid QTL GWAS1508927 (human)0.000002uterine fibroid212861923028619231Human
597295732GWAS1391806_Hbody height QTL GWAS1391806 (human)2e-09body height (VT:0001253)body height (CMO:0000106)212873988528739886Human
407127605GWAS776581_Hneuropsychological test QTL GWAS776581 (human)0.000002neuropsychological test212876869928768700Human
597166122GWAS1262196_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS1262196 (human)3e-08low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)212886480828864809Human
407369908GWAS1018884_Hpulse pressure measurement QTL GWAS1018884 (human)6e-09pulse pressure measurementpulse pressure (CMO:0000292)212875121128751212Human
597354095GWAS1450169_Hbody height QTL GWAS1450169 (human)3e-10body height (VT:0001253)body height (CMO:0000106)212874844228748443Human
597198062GWAS1294136_Hserum gamma-glutamyl transferase measurement QTL GWAS1294136 (human)9e-09serum gamma-glutamyl transferase measurementserum gamma-glutamyltransferase activity level (CMO:0002241)212881953328819534Human
597319405GWAS1415479_HQRS duration QTL GWAS1415479 (human)1e-10QRS durationQRS duration (CMO:0000267)212875101328751014Human
407372400GWAS1021376_Hattention deficit hyperactivity disorder QTL GWAS1021376 (human)0.000004attention deficit hyperactivity disorder212873767628737677Human
597412194GWAS1508268_Hbody height QTL GWAS1508268 (human)6e-09body height (VT:0001253)body height (CMO:0000106)212866327028663271Human
597071407GWAS1167481_Hserum alanine aminotransferase measurement QTL GWAS1167481 (human)8e-11serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)212875416028754161Human
407227385GWAS876361_HQRS amplitude, QRS complex QTL GWAS876361 (human)2e-08QRS amplitude, QRS complexQRS amplitude (CMO:0000268)212878191728781918Human

Markers in Region
RH93987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,244,591 - 30,244,776UniSTSGRCh37
Build 362129,166,462 - 29,166,647RGDNCBI36
Celera2115,427,852 - 15,428,037RGD
Cytogenetic Map21q21.3UniSTS
HuRef2115,649,615 - 15,649,800UniSTS
GeneMap99-GB4 RH Map21143.64UniSTS
RH80363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,244,515 - 30,244,763UniSTSGRCh37
Build 362129,166,386 - 29,166,634RGDNCBI36
Celera2115,427,776 - 15,428,024RGD
Cytogenetic Map21q21.3UniSTS
HuRef2115,649,539 - 15,649,787UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_013240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_182749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA825430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF129078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF130350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF131217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF139682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF165147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF207955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF227510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL163248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AMYH02037685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW136986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP317563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ021620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU631971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF570251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG828628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000303775   ⟹   ENSP00000303584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2128,872,191 - 28,885,367 (-)Ensembl
Ensembl Acc Id: ENST00000351429   ⟹   ENSP00000286764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2128,872,191 - 28,885,371 (-)Ensembl
Ensembl Acc Id: ENST00000460212   ⟹   ENSP00000436490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2128,872,191 - 28,885,371 (-)Ensembl
RefSeq Acc Id: NM_013240   ⟹   NP_037372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382128,872,191 - 28,885,367 (-)NCBI
GRCh372130,244,513 - 30,257,695 (-)NCBI
Build 362129,166,384 - 29,179,564 (-)NCBI Archive
Celera2115,427,774 - 15,440,965 (-)RGD
HuRef2115,649,537 - 15,662,924 (-)NCBI
CHM1_12129,810,754 - 29,820,072 (-)NCBI
T2T-CHM13v2.02127,235,374 - 27,248,586 (-)NCBI
Sequence:
RefSeq Acc Id: NM_182749   ⟹   NP_877426
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382128,872,191 - 28,885,367 (-)NCBI
GRCh372130,244,513 - 30,257,695 (-)NCBI
Build 362129,166,384 - 29,179,564 (-)NCBI Archive
Celera2115,427,774 - 15,440,965 (-)RGD
HuRef2115,649,537 - 15,662,924 (-)NCBI
CHM1_12129,810,754 - 29,820,072 (-)NCBI
T2T-CHM13v2.02127,235,374 - 27,248,586 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047510
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382128,872,191 - 28,885,367 (-)NCBI
GRCh372130,244,513 - 30,257,695 (-)NCBI
HuRef2115,649,537 - 15,662,924 (-)NCBI
CHM1_12129,806,890 - 29,820,072 (-)NCBI
T2T-CHM13v2.02127,235,374 - 27,248,586 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007067787
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382128,575,598 - 28,885,367 (-)NCBI
RefSeq Acc Id: XR_008485335
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02127,235,374 - 27,248,586 (-)NCBI
RefSeq Acc Id: NP_037372   ⟸   NM_013240
- Peptide Label: isoform 1
- UniProtKB: B2RA97 (UniProtKB/Swiss-Prot),   Q96F73 (UniProtKB/Swiss-Prot),   Q9Y5N5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_877426   ⟸   NM_182749
- Peptide Label: isoform 2
- UniProtKB: Q9Y5N5 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000286764   ⟸   ENST00000351429
Ensembl Acc Id: ENSP00000436490   ⟸   ENST00000460212
Ensembl Acc Id: ENSP00000303584   ⟸   ENST00000303775

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5N5-F1-model_v2 AlphaFold Q9Y5N5 1-214 view protein structure

Promoters
RGD ID:13602572
Promoter ID:EPDNEW_H27470
Type:initiation region
Name:N6AMT1_1
Description:N-6 adenine-specific DNA methyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382128,885,365 - 28,885,425EPDNEW
RGD ID:6799507
Promoter ID:HG_KWN:40517
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_013240,   NM_182749,   OTTHUMT00000171740
Position:
Human AssemblyChrPosition (strand)Source
Build 362129,179,219 - 29,179,719 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16021 AgrOrtholog
COSMIC N6AMT1 COSMIC
Ensembl Genes ENSG00000156239 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303775 ENTREZGENE
  ENST00000303775.10 UniProtKB/Swiss-Prot
  ENST00000351429 ENTREZGENE
  ENST00000351429.7 UniProtKB/Swiss-Prot
  ENST00000460212.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.150 UniProtKB/Swiss-Prot
GTEx ENSG00000156239 GTEx
HGNC ID HGNC:16021 ENTREZGENE
Human Proteome Map N6AMT1 Human Proteome Map
InterPro DNA_methylase_N6_adenine_CS UniProtKB/Swiss-Prot
  Euk-Arch_PrmC-MTase UniProtKB/Swiss-Prot
  PrmC-related UniProtKB/Swiss-Prot
  SAM-dependent_MTases UniProtKB/Swiss-Prot
  Small_mtfrase_dom UniProtKB/Swiss-Prot
KEGG Report hsa:29104 UniProtKB/Swiss-Prot
NCBI Gene 29104 ENTREZGENE
OMIM 614553 OMIM
PANTHER METHYLTRANSFERASE N6AMT1 UniProtKB/Swiss-Prot
  METHYLTRANSFERASE N6AMT1 UniProtKB/Swiss-Prot
Pfam MTS UniProtKB/Swiss-Prot
PharmGKB PA162396656 PharmGKB
PROSITE N6_MTASE UniProtKB/Swiss-Prot
Superfamily-SCOP SSF53335 UniProtKB/Swiss-Prot
UniProt B2RA97 ENTREZGENE
  N6MT1_HUMAN UniProtKB/Swiss-Prot
  Q96F73 ENTREZGENE
  Q9Y5N5 ENTREZGENE
UniProt Secondary B2RA97 UniProtKB/Swiss-Prot
  Q96F73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-15 N6AMT1  N-6 adenine-specific DNA methyltransferase 1    N-6 adenine-specific DNA methyltransferase 1 (putative)  Symbol and/or name change 5135510 APPROVED