DNMT3L (DNA methyltransferase 3 like) - Rat Genome Database

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Gene: DNMT3L (DNA methyltransferase 3 like) Homo sapiens
Analyze
Symbol: DNMT3L
Name: DNA methyltransferase 3 like
RGD ID: 1343645
HGNC Page HGNC:2980
Description: Enables enzyme activator activity and enzyme binding activity. Involved in negative regulation of gene expression, epigenetic. Located in cytosol and nucleus. Part of catalytic complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cytosine-5-methyltransferase 3-like protein; DNA (cytosine-5)-methyltransferase 3-like; DNA (cytosine-5-)-methyltransferase 3-like; human cytosine-5-methyltransferase 3-like protein; MGC1090
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,246,339 - 44,261,897 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,246,339 - 44,262,216 (-)EnsemblGRCh38hg38GRCh38
GRCh372145,666,222 - 45,681,780 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,490,651 - 44,506,527 (-)NCBINCBI36Build 36hg18NCBI36
Build 342144,490,650 - 44,506,527NCBI
Celera2130,771,480 - 30,787,356 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,036,675 - 31,052,591 (-)NCBIHuRef
CHM1_12145,226,863 - 45,242,733 (-)NCBICHM1_1
T2T-CHM13v2.02142,600,400 - 42,615,957 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
catalytic complex  (IPI)
condensed nuclear chromosome  (IEA)
cytoplasm  (IBA,IEA)
cytosol  (HDA)
ESC/E(Z) complex  (IEA,ISS)
heterochromatin  (IEA)
nucleus  (HDA,IBA,IEA,NAS)

Molecular Function

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Gestational choline deficiency causes global and Igf2 gene DNA hypermethylation by up-regulation of Dnmt1 expression. Kovacheva VP, etal., J Biol Chem. 2007 Oct 26;282(43):31777-88. Epub 2007 Aug 27.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10830953   PMID:10857753   PMID:11934864   PMID:12044346   PMID:12177302   PMID:12202768   PMID:12237941   PMID:12477932   PMID:12481029   PMID:12777184   PMID:14735494   PMID:15105426  
PMID:15489334   PMID:15861382   PMID:16189514   PMID:16211598   PMID:16543361   PMID:16575165   PMID:16780588   PMID:16829525   PMID:17687327   PMID:17713477   PMID:17965599   PMID:19064572  
PMID:19246518   PMID:19625766   PMID:19921333   PMID:20428781   PMID:20460473   PMID:20593030   PMID:20630873   PMID:20670142   PMID:20838592   PMID:21126912   PMID:21873635   PMID:21900206  
PMID:22116073   PMID:22401780   PMID:22671959   PMID:24743422   PMID:24859147   PMID:24952347   PMID:25383530   PMID:25416956   PMID:26647998   PMID:26911678   PMID:30877840   PMID:31515938  
PMID:32083663   PMID:32296183   PMID:33252195   PMID:33369458   PMID:33750431   PMID:38308276  


Genomics

Comparative Map Data
DNMT3L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382144,246,339 - 44,261,897 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2144,246,339 - 44,262,216 (-)EnsemblGRCh38hg38GRCh38
GRCh372145,666,222 - 45,681,780 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362144,490,651 - 44,506,527 (-)NCBINCBI36Build 36hg18NCBI36
Build 342144,490,650 - 44,506,527NCBI
Celera2130,771,480 - 30,787,356 (-)NCBICelera
Cytogenetic Map21q22.3NCBI
HuRef2131,036,675 - 31,052,591 (-)NCBIHuRef
CHM1_12145,226,863 - 45,242,733 (-)NCBICHM1_1
T2T-CHM13v2.02142,600,400 - 42,615,957 (-)NCBIT2T-CHM13v2.0
Dnmt3l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391077,878,121 - 77,899,456 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1077,877,781 - 77,899,456 (+)EnsemblGRCm39 Ensembl
GRCm381078,042,287 - 78,063,622 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1078,041,947 - 78,063,622 (+)EnsemblGRCm38mm10GRCm38
MGSCv371077,505,032 - 77,526,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361077,452,971 - 77,466,744 (+)NCBIMGSCv36mm8
Celera1079,081,287 - 79,102,649 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Dnmt3l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82010,614,591 - 10,628,989 (-)NCBIGRCr8
mRatBN7.22010,614,933 - 10,629,337 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2010,614,934 - 10,629,516 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2011,314,285 - 11,328,650 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02010,675,187 - 10,689,553 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02011,147,204 - 11,161,604 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02011,344,513 - 11,359,090 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2011,344,514 - 11,359,090 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02013,514,653 - 13,529,169 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42010,958,957 - 10,973,422 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12010,959,183 - 10,973,649 (-)NCBI
Celera2012,120,702 - 12,135,281 (-)NCBICelera
Cytogenetic Map20p12NCBI
Dnmt3l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540741,177,582 - 41,186,965 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540741,177,582 - 41,186,965 (+)NCBIChiLan1.0ChiLan1.0
DNMT3L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22240,255,079 - 40,269,622 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12135,105,200 - 35,119,723 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02130,503,194 - 30,520,237 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12143,798,778 - 43,814,283 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2143,798,778 - 43,814,283 (-)Ensemblpanpan1.1panPan2
DNMT3L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13138,099,100 - 38,111,432 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3137,256,521 - 37,272,413 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03137,646,747 - 37,659,063 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3137,645,326 - 37,659,391 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13137,513,901 - 37,526,213 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03137,497,879 - 37,510,191 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03137,992,522 - 38,008,421 (-)NCBIUU_Cfam_GSD_1.0
Dnmt3l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497137,307,350 - 37,324,745 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936500143,078 - 160,212 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936500143,078 - 160,318 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DNMT3L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13207,119,051 - 207,132,538 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113207,119,025 - 207,141,990 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213216,998,088 - 217,011,839 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DNMT3L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1287,991,868 - 88,006,399 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl287,991,936 - 88,005,459 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605416,105,634 - 16,119,773 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dnmt3l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474529,869,196 - 29,878,169 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474529,869,174 - 29,878,189 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DNMT3L
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 copy number loss See cases [RCV000050746] Chr21:42232926..46670405 [GRCh38]
Chr21:43653036..48090317 [GRCh37]
Chr21:42526105..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
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 21q22.3(chr21:41285201-46670405)x1 copy number loss See cases [RCV000051022] Chr21:41285201..46670405 [GRCh38]
Chr21:42657128..48090317 [GRCh37]
Chr21:41578998..46914745 [NCBI36]
Chr21:21q22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3
pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] Chr21:38273492..46670405 [GRCh38]
Chr21:39645414..48090317 [GRCh37]
Chr21:38567284..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 copy number loss See cases [RCV000052839] Chr21:40127825..46670546 [GRCh38]
Chr21:41499752..48090458 [GRCh37]
Chr21:40421622..46914886 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
GRCh38/hg38 21q22.3(chr21:44246089-44337776)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052840]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052840]|See cases [RCV000052840] Chr21:44246089..44337776 [GRCh38]
Chr21:45665972..45757659 [GRCh37]
Chr21:44490400..44582087 [NCBI36]
Chr21:21q22.3
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(chr21:7749532-46661140)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(chr21:7749532-46670405)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(chr21:7749532-46670405)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 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_013369.3(DNMT3L):c.937C>T (p.His313Tyr) single nucleotide variant Malignant melanoma [RCV000072861] Chr21:44249084 [GRCh38]
Chr21:45668967 [GRCh37]
Chr21:44493395 [NCBI36]
Chr21:21q22.3
not provided
NM_013369.3(DNMT3L):c.936C>T (p.Val312=) single nucleotide variant Malignant melanoma [RCV000072862] Chr21:44249085 [GRCh38]
Chr21:45668968 [GRCh37]
Chr21:44493396 [NCBI36]
Chr21:21q22.3
not provided
NM_013369.3(DNMT3L):c.1021_1023delGAA (p.Glu343del) deletion Malignant melanoma [RCV000063846] Chr21:44246538..44246540 [GRCh38]
Chr21:45666421..45666423 [GRCh37]
Chr21:44490849..44490851 [NCBI36]
Chr21:21q22.3
not provided
NM_013369.3(DNMT3L):c.714C>T (p.Phe238=) single nucleotide variant Malignant melanoma [RCV000063847] Chr21:44251678 [GRCh38]
Chr21:45671561 [GRCh37]
Chr21:44495989 [NCBI36]
Chr21:21q22.3
not provided
GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1 copy number loss See cases [RCV000133675] Chr21:43071168..46670405 [GRCh38]
Chr21:44491278..48090317 [GRCh37]
Chr21:43364347..46914745 [NCBI36]
Chr21:21q22.3
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 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 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3
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(chr21:7749532-46670440)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 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 21q22.3(chr21:44131144-44348695)x3 copy number gain See cases [RCV000136387] Chr21:44131144..44348695 [GRCh38]
Chr21:45551026..45768578 [GRCh37]
Chr21:44375454..44593006 [NCBI36]
Chr21:21q22.3
likely benign
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3
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 21q22.3(chr21:41733640-46671060)x1 copy number loss See cases [RCV000137341] Chr21:41733640..46671060 [GRCh38]
Chr21:43153800..48090972 [GRCh37]
Chr21:42026869..46915400 [NCBI36]
Chr21:21q22.3
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 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3
pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3
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 21q22.2-22.3(chr21:40296025-46670440)x1 copy number loss See cases [RCV000139158] Chr21:40296025..46670440 [GRCh38]
Chr21:41667952..48090352 [GRCh37]
Chr21:40589822..46914780 [NCBI36]
Chr21:21q22.2-22.3
pathogenic
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 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 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
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 copy number loss See cases [RCV000142311] Chr21:38816399..46677460 [GRCh38]
Chr21:40188323..48097372 [GRCh37]
Chr21:39110193..46921800 [NCBI36]
Chr21:21q22.2-22.3
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 21q22.3(chr21:42913213-46670405)x1 copy number loss See cases [RCV000142600] Chr21:42913213..46670405 [GRCh38]
Chr21:44333323..48090317 [GRCh37]
Chr21:43206392..46914745 [NCBI36]
Chr21:21q22.3
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 21q22.3(chr21:42129699-46671060)x1 copy number loss See cases [RCV000143335] Chr21:42129699..46671060 [GRCh38]
Chr21:43549809..48090972 [GRCh37]
Chr21:42422878..46915400 [NCBI36]
Chr21:21q22.3
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 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
GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1 copy number loss See cases [RCV000240216] Chr21:44264486..45945979 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:44828064-48097372)x1 copy number loss See cases [RCV000449026] Chr21:44828064..48097372 [GRCh37]
Chr21:21q22.3
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(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 copy number loss See cases [RCV000446372] Chr21:43268694..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 copy number loss See cases [RCV000447618] Chr21:43598607..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:45265857-47057233)x1 copy number loss See cases [RCV000447458] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 copy number loss See cases [RCV000448694] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
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 21q22.3(chr21:44891717-46043454)x1 copy number loss See cases [RCV000448917] Chr21:44891717..46043454 [GRCh37]
Chr21:21q22.3
uncertain significance
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(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 copy number loss See cases [RCV000512071] Chr21:43498966..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 copy number loss See cases [RCV000511808] Chr21:41254101..48097372 [GRCh37]
Chr21:21q22.2-22.3
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 21q22.3(chr21:44715783-46385971)x3 copy number gain See cases [RCV000511056] Chr21:44715783..46385971 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3
pathogenic
NM_175867.3(DNMT3L):c.376G>A (p.Val126Ile) single nucleotide variant not specified [RCV004320686] Chr21:44258663 [GRCh38]
Chr21:45678546 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_45629566)_(46330717_?)dup duplication Polyglandular autoimmune syndrome, type 1 [RCV000633454] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 copy number loss not provided [RCV000684163] Chr21:43687353..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 copy number loss not provided [RCV000684165] Chr21:42335622..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele duplication Autism [RCV000754229] Chr21:43403441..46673937 [GRCh38]
Chr21:21q22.3
likely 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
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 21q22.2-22.3(chr21:41537095-46914745) copy number loss not provided [RCV000767626] Chr21:41537095..46914745 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
Single allele duplication not provided [RCV000768458] Chr21:43010560..48093051 [GRCh37]
Chr21:21q22.3
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787406] Chr21:44627837..46920235 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 copy number loss not provided [RCV000849014] Chr21:43756585..46240105 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1 copy number loss not provided [RCV000847671] Chr21:44310057..47503155 [GRCh37]
Chr21:21q22.3
pathogenic
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
GRCh37/hg19 21q22.3(chr21:45125672-48097372)x1 copy number loss not provided [RCV001007144] Chr21:45125672..48097372 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_43792871)_(46330697_?)dup duplication not provided [RCV001031286] Chr21:43792871..46330697 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.392C>T (p.Ser131Leu) single nucleotide variant not specified [RCV004284043] Chr21:44258647 [GRCh38]
Chr21:45678530 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.3(chr21:45490774-48097372)x1 copy number loss not provided [RCV001007145] Chr21:45490774..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3 copy number gain See cases [RCV001007433] Chr21:42044877..48100155 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1 copy number loss not provided [RCV001007138] Chr21:43472147..48097372 [GRCh37]
Chr21:21q22.3
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 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_45629566)_(46330717_?)del deletion Polyglandular autoimmune syndrome, type 1 [RCV001381160] Chr21:45629566..46330717 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:42679089-48097372) copy number loss Delayed speech and language development [RCV002280704] Chr21:42679089..48097372 [GRCh37]
Chr21:21q22.3
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 21q22.2-22.3(chr21:42410406-48097372) copy number loss not specified [RCV002052739] Chr21:42410406..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
NC_000021.8:g.(?_44838120)_(47865240_?)del deletion not provided [RCV001987971] Chr21:44838120..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_43160998)_(47865240_?)dup duplication Cataract 9 multiple types [RCV001913783]|Developmental and epileptic encephalopathy, 30 [RCV003120744]|Primary ciliary dyskinesia [RCV001913782] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
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 21q22.3(chr21:45071606-45703897) copy number gain not specified [RCV002052742] Chr21:45071606..45703897 [GRCh37]
Chr21:21q22.3
uncertain significance
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 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 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 21q22.3(chr21:45265857-47057233) copy number loss not specified [RCV002052743] Chr21:45265857..47057233 [GRCh37]
Chr21:21q22.3
pathogenic
NC_000021.8:g.(?_43160998)_(47865240_?)del deletion HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED [RCV001956307] Chr21:43160998..47865240 [GRCh37]
Chr21:21q22.3
pathogenic
NC_000021.8:g.(?_44473990)_(47865240_?)dup duplication not provided [RCV002011965] Chr21:44473990..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_43160998)_(47754702_?)del deletion Developmental and epileptic encephalopathy, 30 [RCV003119312]|Progressive myoclonic epilepsy [RCV003119311] Chr21:43160998..47754702 [GRCh37]
Chr21:21q22.3
pathogenic|uncertain significance
NC_000021.8:g.(?_45655135)_(45717610_?)dup duplication not provided [RCV003119544] Chr21:45655135..45717610 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.661G>C (p.Val221Leu) single nucleotide variant not specified [RCV004609274] Chr21:44254649 [GRCh38]
Chr21:45674532 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q22.3(chr21:45460343-45817256)x3 copy number gain not provided [RCV002475753] Chr21:45460343..45817256 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.275A>G (p.Tyr92Cys) single nucleotide variant not specified [RCV004169475] Chr21:44259506 [GRCh38]
Chr21:45679389 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.967G>A (p.Val323Met) single nucleotide variant not specified [RCV004097419] Chr21:44249054 [GRCh38]
Chr21:45668937 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.793C>T (p.Arg265Trp) single nucleotide variant not specified [RCV004209132] Chr21:44250926 [GRCh38]
Chr21:45670809 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.644C>T (p.Pro215Leu) single nucleotide variant not specified [RCV004150538] Chr21:44254666 [GRCh38]
Chr21:45674549 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004098506] Chr21:44261255 [GRCh38]
Chr21:45681138 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.555G>C (p.Trp185Cys) single nucleotide variant not specified [RCV004131249] Chr21:44256116 [GRCh38]
Chr21:45675999 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.760C>T (p.Arg254Cys) single nucleotide variant not specified [RCV004227455] Chr21:44251632 [GRCh38]
Chr21:45671515 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.473G>A (p.Arg158Lys) single nucleotide variant not specified [RCV004222007] Chr21:44258566 [GRCh38]
Chr21:45678449 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.965G>A (p.Arg322His) single nucleotide variant not specified [RCV004086163] Chr21:44249056 [GRCh38]
Chr21:45668939 [GRCh37]
Chr21:21q22.3
likely benign
NM_175867.3(DNMT3L):c.480G>T (p.Trp160Cys) single nucleotide variant not specified [RCV004109233] Chr21:44258559 [GRCh38]
Chr21:45678442 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.792C>A (p.His264Gln) single nucleotide variant not specified [RCV004122211] Chr21:44250927 [GRCh38]
Chr21:45670810 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.1058C>T (p.Ser353Leu) single nucleotide variant not specified [RCV004180678] Chr21:44246500 [GRCh38]
Chr21:45666383 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.766C>G (p.Pro256Ala) single nucleotide variant not specified [RCV004226278] Chr21:44251626 [GRCh38]
Chr21:45671509 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.145A>G (p.Ile49Val) single nucleotide variant not specified [RCV004279512] Chr21:44260801 [GRCh38]
Chr21:45680684 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.349T>C (p.Tyr117His) single nucleotide variant not specified [RCV004365433] Chr21:44258690 [GRCh38]
Chr21:45678573 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.1016C>T (p.Ser339Leu) single nucleotide variant not specified [RCV004361374] Chr21:44246542 [GRCh38]
Chr21:45666425 [GRCh37]
Chr21:21q22.3
uncertain significance
GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1 copy number loss not provided [RCV003483381] Chr21:40681179..48097372 [GRCh37]
Chr21:21q22.2-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3 copy number gain not provided [RCV003485228] Chr21:44925905..45717716 [GRCh37]
Chr21:21q22.3
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 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3 copy number gain not provided [RCV003485225] Chr21:43687354..48097372 [GRCh37]
Chr21:21q22.3
likely pathogenic
NM_175867.3(DNMT3L):c.939C>T (p.His313=) single nucleotide variant not provided [RCV003440603] Chr21:44249082 [GRCh38]
Chr21:45668965 [GRCh37]
Chr21:21q22.3
likely benign
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
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 21q22.3(chr21:43369956-48097372)x1 copy number loss not specified [RCV003986155] Chr21:43369956..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1 copy number loss not specified [RCV003986150] Chr21:43603041..48097372 [GRCh37]
Chr21:21q22.3
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
GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1 copy number loss not specified [RCV003986156] Chr21:45102309..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1 copy number loss not specified [RCV003986159] Chr21:44577746..48097372 [GRCh37]
Chr21:21q22.3
pathogenic
GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3
pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3
pathogenic
NM_175867.3(DNMT3L):c.964C>T (p.Arg322Cys) single nucleotide variant not specified [RCV004381686] Chr21:44249057 [GRCh38]
Chr21:45668940 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.85G>A (p.Val29Ile) single nucleotide variant not specified [RCV004381685] Chr21:44261175 [GRCh38]
Chr21:45681058 [GRCh37]
Chr21:21q22.3
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_175867.3(DNMT3L):c.846G>T (p.Trp282Cys) single nucleotide variant not specified [RCV004624345] Chr21:44250873 [GRCh38]
Chr21:45670756 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.309G>C (p.Glu103Asp) single nucleotide variant not specified [RCV004344401] Chr21:44259472 [GRCh38]
Chr21:45679355 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.49G>A (p.Val17Met) single nucleotide variant not specified [RCV004624341] Chr21:44261211 [GRCh38]
Chr21:45681094 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.325G>A (p.Gly109Arg) single nucleotide variant not specified [RCV004624342] Chr21:44259456 [GRCh38]
Chr21:45679339 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.940G>A (p.Gly314Ser) single nucleotide variant not specified [RCV004624343] Chr21:44249081 [GRCh38]
Chr21:45668964 [GRCh37]
Chr21:21q22.3
uncertain significance
NM_175867.3(DNMT3L):c.305G>C (p.Gly102Ala) single nucleotide variant not specified [RCV004624344] Chr21:44259476 [GRCh38]
Chr21:45679359 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_45647421)_(47865240_?)dup duplication not provided [RCV004579369] Chr21:45647421..47865240 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_45629566)_(45711113_?)dup duplication Polyglandular autoimmune syndrome, type 1 [RCV004579311] Chr21:45629566..45711113 [GRCh37]
Chr21:21q22.3
uncertain significance
NC_000021.8:g.(?_44296792)_(47865240_?)del deletion not provided [RCV004579375] Chr21:44296792..47865240 [GRCh37]
Chr21:21q22.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:640
Count of miRNA genes:453
Interacting mature miRNAs:502
Transcripts:ENST00000270172, ENST00000418993, ENST00000431166, ENST00000436357
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597262086GWAS1358160_Heosinophil count QTL GWAS1358160 (human)2e-09eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)214424946144249462Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
220 364 409 291 1095 654 786 3 422 544 394 506 1774 1165 3 737 357 752 351 28

Sequence


Ensembl Acc Id: ENST00000270172   ⟹   ENSP00000270172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,246,339 - 44,262,216 (-)Ensembl
Ensembl Acc Id: ENST00000431166   ⟹   ENSP00000400242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,250,810 - 44,261,882 (-)Ensembl
Ensembl Acc Id: ENST00000436357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,246,339 - 44,251,238 (-)Ensembl
Ensembl Acc Id: ENST00000628202   ⟹   ENSP00000486001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2144,246,339 - 44,261,897 (-)Ensembl
RefSeq Acc Id: NM_013369   ⟹   NP_037501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,246,339 - 44,261,897 (-)NCBI
GRCh372145,666,222 - 45,682,099 (-)NCBI
Build 362144,490,651 - 44,506,527 (-)NCBI Archive
HuRef2131,036,675 - 31,052,591 (-)NCBI
CHM1_12145,226,863 - 45,242,733 (-)NCBI
T2T-CHM13v2.02142,600,400 - 42,615,957 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175867   ⟹   NP_787063
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382144,246,339 - 44,261,897 (-)NCBI
GRCh372145,666,222 - 45,682,099 (-)NCBI
Build 362144,490,651 - 44,506,527 (-)NCBI Archive
HuRef2131,036,675 - 31,052,591 (-)NCBI
CHM1_12145,226,863 - 45,242,733 (-)NCBI
T2T-CHM13v2.02142,600,400 - 42,615,957 (-)NCBI
Sequence:
RefSeq Acc Id: NP_787063   ⟸   NM_175867
- Peptide Label: isoform 2
- UniProtKB: E9PB42 (UniProtKB/Swiss-Prot),   Q9BUJ4 (UniProtKB/Swiss-Prot),   Q9UJW3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_037501   ⟸   NM_013369
- Peptide Label: isoform 1
- UniProtKB: Q9UJW3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000270172   ⟸   ENST00000270172
Ensembl Acc Id: ENSP00000486001   ⟸   ENST00000628202
Ensembl Acc Id: ENSP00000400242   ⟸   ENST00000431166
Protein Domains
ADD   PHD-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UJW3-F1-model_v2 AlphaFold Q9UJW3 1-386 view protein structure

Promoters
RGD ID:13603004
Promoter ID:EPDNEW_H27686
Type:initiation region
Name:DNMT3L_1
Description:DNA methyltransferase 3 like
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
GRCh382144,261,867 - 44,261,927EPDNEW
RGD ID:6799396
Promoter ID:HG_KWN:41150
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000195822
Position:
Human AssemblyChrPosition (strand)Source
Build 362144,495,296 - 44,495,796 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2980 AgrOrtholog
COSMIC DNMT3L COSMIC
Ensembl Genes ENSG00000142182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000270172 ENTREZGENE
  ENST00000270172.7 UniProtKB/Swiss-Prot
  ENST00000431166.1 UniProtKB/TrEMBL
  ENST00000628202 ENTREZGENE
  ENST00000628202.3 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000142182 GTEx
HGNC ID HGNC:2980 ENTREZGENE
Human Proteome Map DNMT3L Human Proteome Map
InterPro ADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNMT3_ADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNMT3_ADD_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SAM-dependent_MTases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_FYVE_PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29947 UniProtKB/Swiss-Prot
NCBI Gene 29947 ENTREZGENE
OMIM 606588 OMIM
PANTHER DNA CYTOSINE-5- -METHYLTRANSFERASE 3-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23068:SF13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADD_DNMT3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADDz_Dnmt3b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27447 PharmGKB
PROSITE ADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J0T5_HUMAN UniProtKB/TrEMBL
  DNM3L_HUMAN UniProtKB/Swiss-Prot
  E9PB42 ENTREZGENE
  Q9BUJ4 ENTREZGENE
  Q9UJW3 ENTREZGENE
UniProt Secondary E9PB42 UniProtKB/Swiss-Prot
  Q9BUJ4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 DNMT3L  DNA methyltransferase 3 like    DNA (cytosine-5-)-methyltransferase 3-like  Symbol and/or name change 5135510 APPROVED