DLG3 (discs large MAGUK scaffold protein 3) - Rat Genome Database

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Gene: DLG3 (discs large MAGUK scaffold protein 3) Homo sapiens
Analyze
Symbol: DLG3
Name: discs large MAGUK scaffold protein 3
RGD ID: 68628
HGNC Page HGNC
Description: Exhibits kinase binding activity and phosphatase binding activity. Involved in negative regulation of phosphatase activity. Localizes to extracellular space. Predicted to colocalize with ionotropic glutamate receptor complex. Implicated in non-syndromic X-linked intellectual disability 90.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: discs large homolog 3; discs, large homolog 3; discs, large homolog 3 (neuroendocrine-dlg, Drosophila); disks large homolog 3; KIAA1232; MRX; MRX90; NE-Dlg; NEDLG; neuroendocrine-DLG; PPP1R82; SAP-102; SAP102; synapse-associated protein 102; XLMR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX70,444,835 - 70,505,490 (+)EnsemblGRCh38hg38GRCh38
GRCh38X70,444,835 - 70,505,490 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X69,664,685 - 69,725,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X69,581,449 - 69,642,062 (+)NCBINCBI36hg18NCBI36
Build 34X69,447,839 - 69,505,554NCBI
CeleraX70,018,031 - 70,078,673 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX63,486,322 - 63,547,144 (+)NCBIHuRef
CHM1_1X69,558,605 - 69,619,214 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8702950   PMID:8780649   PMID:8889548   PMID:9115257   PMID:9188857   PMID:9278515   PMID:9581761   PMID:9753324   PMID:9808460   PMID:10026200   PMID:10373412   PMID:10542258  
PMID:10574462   PMID:10595517   PMID:10725395   PMID:10862698   PMID:10958799   PMID:11087996   PMID:11134026   PMID:11274188   PMID:11572861   PMID:11937501   PMID:11997254   PMID:12070168  
PMID:12175853   PMID:12351654   PMID:12477932   PMID:12576483   PMID:12713445   PMID:12738960   PMID:15024025   PMID:15146197   PMID:15255944   PMID:16192271   PMID:16482544   PMID:16637659  
PMID:17353931   PMID:17526495   PMID:18029348   PMID:19086053   PMID:19118189   PMID:19167192   PMID:19322201   PMID:19342380   PMID:19389623   PMID:19795139   PMID:19913121   PMID:20628086  
PMID:21119615   PMID:21252287   PMID:21369957   PMID:21384559   PMID:21873635   PMID:22664934   PMID:22745667   PMID:22745750   PMID:23103165   PMID:23824909   PMID:24381070   PMID:24507884  
PMID:24721225   PMID:24739954   PMID:25268382   PMID:25555912   PMID:25780553   PMID:26053890   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27222290   PMID:27466188   PMID:28380382  
PMID:28514442   PMID:28777483   PMID:28786561   PMID:28973854   PMID:29282697   PMID:29791485   PMID:30639242   PMID:31271664   PMID:31527615   PMID:32296183  


Genomics

Comparative Map Data
DLG3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX70,444,835 - 70,505,490 (+)EnsemblGRCh38hg38GRCh38
GRCh38X70,444,835 - 70,505,490 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X69,664,685 - 69,725,340 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X69,581,449 - 69,642,062 (+)NCBINCBI36hg18NCBI36
Build 34X69,447,839 - 69,505,554NCBI
CeleraX70,018,031 - 70,078,673 (+)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX63,486,322 - 63,547,144 (+)NCBIHuRef
CHM1_1X69,558,605 - 69,619,214 (+)NCBICHM1_1
Dlg3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X99,811,200 - 99,862,016 (+)NCBIGRCm39mm39
GRCm39 EnsemblX99,811,328 - 99,862,016 (+)Ensembl
GRCm38X100,767,411 - 100,818,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX100,767,722 - 100,818,410 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X97,963,062 - 98,013,749 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X96,970,466 - 97,021,127 (+)NCBImm8
CeleraX87,686,891 - 87,737,556 (+)NCBICelera
Cytogenetic MapXC3NCBI
Dlg3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X65,859,653 - 65,911,887 (+)NCBI
Rnor_6.0 EnsemblX70,596,576 - 70,648,532 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X70,596,246 - 70,648,529 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X71,468,290 - 71,520,286 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X88,777,585 - 88,828,504 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X88,851,017 - 88,901,937 (+)NCBI
CeleraX66,218,231 - 66,268,819 (+)NCBICelera
Cytogenetic MapXq22NCBI
Dlg3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554759,992,215 - 10,056,348 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554759,992,888 - 10,056,197 (+)NCBIChiLan1.0ChiLan1.0
DLG3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X69,771,482 - 69,831,376 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX69,771,477 - 69,831,369 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X59,712,755 - 59,773,372 (+)NCBIMhudiblu_PPA_v0panPan3
DLG3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X54,886,700 - 54,941,502 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX54,886,389 - 54,939,675 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX45,713,141 - 45,768,580 (+)NCBI
ROS_Cfam_1.0X55,853,333 - 55,908,759 (+)NCBI
UMICH_Zoey_3.1X53,822,238 - 53,877,672 (+)NCBI
UNSW_CanFamBas_1.0X55,153,323 - 55,208,774 (+)NCBI
UU_Cfam_GSD_1.0X55,080,264 - 55,135,709 (+)NCBI
Dlg3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X47,220,157 - 47,276,307 (-)NCBI
SpeTri2.0NW_004936762982,331 - 1,038,486 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DLG3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX56,472,305 - 56,527,991 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X56,471,941 - 56,531,481 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X63,666,759 - 63,724,414 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DLG3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X60,290,280 - 60,346,954 (+)NCBI
ChlSab1.1 EnsemblX60,290,630 - 60,346,953 (+)Ensembl
Vero_WHO_p1.0NW_0236660652,134,119 - 2,191,196 (+)NCBI
Dlg3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624903409,721 - 473,422 (+)NCBI

Position Markers
DXS8107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,721,231 - 69,721,399UniSTSGRCh37
Build 36X69,637,956 - 69,638,124RGDNCBI36
CeleraX70,074,552 - 70,074,732RGD
Cytogenetic MapXq13.1UniSTS
HuRefX63,543,022 - 63,543,204UniSTS
Marshfield Genetic MapX55.75UniSTS
Marshfield Genetic MapX55.75RGD
Genethon Genetic MapX94.1UniSTS
deCODE Assembly MapX83.93UniSTS
SGC33537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,722,987 - 69,723,115UniSTSGRCh37
Build 36X69,639,712 - 69,639,840RGDNCBI36
CeleraX70,076,320 - 70,076,448RGD
Cytogenetic MapXq13.1UniSTS
HuRefX63,544,791 - 63,544,919UniSTS
GeneMap99-GB4 RH MapX242.93UniSTS
Whitehead-RH MapX163.5UniSTS
NCBI RH MapX476.5UniSTS
DXS348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,701,163 - 69,701,342UniSTSGRCh37
Build 36X69,617,888 - 69,618,067RGDNCBI36
CeleraX70,054,484 - 70,054,663RGD
Cytogenetic MapXq13.1UniSTS
HuRefX63,522,652 - 63,522,831UniSTS
SGC30680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,725,182 - 69,725,318UniSTSGRCh37
Build 36X69,641,907 - 69,642,043RGDNCBI36
CeleraX70,078,515 - 70,078,651RGD
Cytogenetic MapXq13.1UniSTS
HuRefX63,546,986 - 63,547,122UniSTS
GeneMap99-GB4 RH MapX243.27UniSTS
Whitehead-RH MapX163.5UniSTS
NCBI RH MapX465.2UniSTS
DLG3_4190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,722,027 - 69,722,724UniSTSGRCh37
Build 36X69,638,752 - 69,639,449RGDNCBI36
CeleraX70,075,360 - 70,076,057RGD
HuRefX63,543,832 - 63,544,528UniSTS
RH36026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,725,058 - 69,725,301UniSTSGRCh37
Build 36X69,641,783 - 69,642,026RGDNCBI36
CeleraX70,078,391 - 70,078,634RGD
Cytogenetic MapXq13.1UniSTS
HuRefX63,546,862 - 63,547,105UniSTS
GeneMap99-GB4 RH MapX237.04UniSTS
NCBI RH MapX369.9UniSTS
DXS7496  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X69,724,081 - 69,724,181UniSTSGRCh37
Build 36X69,640,806 - 69,640,906RGDNCBI36
CeleraX70,077,414 - 70,077,514RGD
Cytogenetic MapXq13.1UniSTS
HuRefX63,545,885 - 63,545,985UniSTS
Whitehead-YAC Contig MapX UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9621
Count of miRNA genes:1348
Interacting mature miRNAs:1786
Transcripts:ENST00000194900, ENST00000374355, ENST00000374360, ENST00000461646, ENST00000463252, ENST00000466140, ENST00000489733, ENST00000494493, ENST00000496931, ENST00000542398
Prediction methods:Miranda, Pita, 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.


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 pharyngeal arch
High
Medium 2021 1198 1001 189 498 37 2192 723 2113 271 1009 1198 162 25 1464 3
Low 415 1521 658 369 1154 362 1945 1233 1598 148 448 409 8 1179 1107 2 2
Below cutoff 3 270 67 66 285 66 218 237 12 3 5 2 1 217

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_015849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001166278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK300381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN357435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000194900   ⟹   ENSP00000194900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,444,861 - 70,505,490 (+)Ensembl
RefSeq Acc Id: ENST00000374355   ⟹   ENSP00000363475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,452,305 - 70,505,487 (+)Ensembl
RefSeq Acc Id: ENST00000374360   ⟹   ENSP00000363480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,444,835 - 70,505,490 (+)Ensembl
RefSeq Acc Id: ENST00000461646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,497,165 - 70,502,371 (+)Ensembl
RefSeq Acc Id: ENST00000463252
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,445,136 - 70,503,946 (+)Ensembl
RefSeq Acc Id: ENST00000466140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,479,118 - 70,499,903 (+)Ensembl
RefSeq Acc Id: ENST00000489733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,455,103 - 70,498,558 (+)Ensembl
RefSeq Acc Id: ENST00000494493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,455,107 - 70,492,237 (+)Ensembl
RefSeq Acc Id: ENST00000496931
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,499,965 - 70,500,989 (+)Ensembl
RefSeq Acc Id: ENST00000542398   ⟹   ENSP00000441393
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX70,455,096 - 70,505,485 (+)Ensembl
RefSeq Acc Id: NM_001166278   ⟹   NP_001159750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,455,177 - 70,505,490 (+)NCBI
GRCh37X69,664,705 - 69,725,343 (+)NCBI
HuRefX63,486,322 - 63,547,144 (+)ENTREZGENE
CHM1_1X69,568,846 - 69,619,214 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020730   ⟹   NP_065781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,452,292 - 70,505,490 (+)NCBI
GRCh37X69,664,705 - 69,725,343 (+)NCBI
Build 36X69,588,886 - 69,642,062 (+)NCBI Archive
HuRefX63,486,322 - 63,547,144 (+)ENTREZGENE
CHM1_1X69,566,055 - 69,619,214 (+)NCBI
Sequence:
RefSeq Acc Id: NM_021120   ⟹   NP_066943
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,444,835 - 70,505,490 (+)NCBI
GRCh37X69,664,705 - 69,725,343 (+)NCBI
Build 36X69,581,449 - 69,642,062 (+)NCBI Archive
HuRefX63,486,322 - 63,547,144 (+)ENTREZGENE
CHM1_1X69,558,605 - 69,619,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262248   ⟹   XP_005262305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,452,488 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724625   ⟹   XP_006724688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,444,850 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006724626   ⟹   XP_006724689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,444,850 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530883   ⟹   XP_011529185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,444,850 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029322   ⟹   XP_016884811
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,452,606 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029323   ⟹   XP_016884812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,452,606 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029324   ⟹   XP_016884813
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,452,606 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029325   ⟹   XP_016884814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,475,614 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029326   ⟹   XP_016884815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,456,005 - 70,505,490 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029327   ⟹   XP_016884816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,455,101 - 70,505,490 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001159750 (Get FASTA)   NCBI Sequence Viewer  
  NP_065781 (Get FASTA)   NCBI Sequence Viewer  
  NP_066943 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262305 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724688 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724689 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529185 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884811 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884812 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884813 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884814 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884815 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884816 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB61453 (Get FASTA)   NCBI Sequence Viewer  
  AAH93864 (Get FASTA)   NCBI Sequence Viewer  
  AAH93866 (Get FASTA)   NCBI Sequence Viewer  
  BAA86546 (Get FASTA)   NCBI Sequence Viewer  
  BAD92565 (Get FASTA)   NCBI Sequence Viewer  
  BAG64433 (Get FASTA)   NCBI Sequence Viewer  
  BAG64935 (Get FASTA)   NCBI Sequence Viewer  
  BAH14889 (Get FASTA)   NCBI Sequence Viewer  
  EAX05333 (Get FASTA)   NCBI Sequence Viewer  
  EAX05334 (Get FASTA)   NCBI Sequence Viewer  
  EAX05335 (Get FASTA)   NCBI Sequence Viewer  
  EAX05336 (Get FASTA)   NCBI Sequence Viewer  
  EAX05337 (Get FASTA)   NCBI Sequence Viewer  
  EAX05338 (Get FASTA)   NCBI Sequence Viewer  
  Q92796 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_066943   ⟸   NM_021120
- Peptide Label: isoform a
- UniProtKB: Q92796 (UniProtKB/Swiss-Prot),   Q59FY1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065781   ⟸   NM_020730
- Peptide Label: isoform b
- UniProtKB: Q92796 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001159750   ⟸   NM_001166278
- Peptide Label: isoform c
- UniProtKB: Q92796 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262305   ⟸   XM_005262248
- Peptide Label: isoform X8
- UniProtKB: Q92796 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724688   ⟸   XM_006724625
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006724689   ⟸   XM_006724626
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529185   ⟸   XM_011530883
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884813   ⟸   XM_017029324
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884811   ⟸   XM_017029322
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884812   ⟸   XM_017029323
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884816   ⟸   XM_017029327
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016884815   ⟸   XM_017029326
- Peptide Label: isoform X8
- UniProtKB: Q92796 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884814   ⟸   XM_017029325
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000441393   ⟸   ENST00000542398
RefSeq Acc Id: ENSP00000363480   ⟸   ENST00000374360
RefSeq Acc Id: ENSP00000363475   ⟸   ENST00000374355
RefSeq Acc Id: ENSP00000194900   ⟸   ENST00000194900
Protein Domains
Guanylate kinase-like   PDZ   SH3

Promoters
RGD ID:6808627
Promoter ID:HG_KWN:67133
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid
Transcripts:NM_020730
Position:
Human AssemblyChrPosition (strand)Source
Build 36X69,588,906 - 69,589,406 (+)MPROMDB
RGD ID:6808628
Promoter ID:HG_KWN:67134
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001166278,   OTTHUMT00000057077,   OTTHUMT00000268194
Position:
Human AssemblyChrPosition (strand)Source
Build 36X69,591,509 - 69,592,009 (+)MPROMDB
RGD ID:6808630
Promoter ID:HG_KWN:67136
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000268195
Position:
Human AssemblyChrPosition (strand)Source
Build 36X69,615,486 - 69,615,986 (+)MPROMDB
RGD ID:6808629
Promoter ID:HG_KWN:67137
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000268196
Position:
Human AssemblyChrPosition (strand)Source
Build 36X69,632,566 - 69,633,066 (+)MPROMDB
RGD ID:13627376
Promoter ID:EPDNEW_H28964
Type:multiple initiation site
Name:DLG3_2
Description:discs large MAGUK scaffold protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28965  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,445,014 - 70,445,074EPDNEW
RGD ID:13627380
Promoter ID:EPDNEW_H28965
Type:initiation region
Name:DLG3_1
Description:discs large MAGUK scaffold protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28964  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X70,452,311 - 70,452,371EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021120.4(DLG3):c.1092dup (p.Thr365fs) duplication X-Linked mental retardation 90 [RCV000022834] ChrX:70451967..70451968 [GRCh38]
ChrX:69671817..69671818 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_021120.4(DLG3):c.1373C>G (p.Ser458Ter) single nucleotide variant X-Linked mental retardation 90 [RCV000022835] ChrX:70454284 [GRCh38]
ChrX:69674134 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_021120.4(DLG3):c.1795G>A (p.Asp599Asn) single nucleotide variant not provided [RCV000520981] ChrX:70495429 [GRCh38]
ChrX:69715279 [GRCh37]
ChrX:Xq13.1
uncertain significance
DLG3, IVS6DS, G-A, +5 single nucleotide variant X-Linked mental retardation 90 [RCV000012274] ChrX:Xq13.1 pathogenic
DLG3, IVS8DS, G-A, +1 single nucleotide variant X-Linked mental retardation 90 [RCV000012275] ChrX:Xq13.1 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.1(chrX:69880987-70512644)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]|See cases [RCV000054209] ChrX:69880987..70512644 [GRCh38]
ChrX:69100823..69732494 [GRCh37]
ChrX:69017548..69649219 [NCBI36]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1425G>A (p.Ser475=) single nucleotide variant not provided [RCV000285321] ChrX:70479169 [GRCh38]
ChrX:69699019 [GRCh37]
ChrX:69615744 [NCBI36]
ChrX:Xq13.1
uncertain significance|not provided
NM_021120.4(DLG3):c.304G>A (p.Gly102Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000715401]|not provided [RCV000224309]|not specified [RCV000082080] ChrX:70445505 [GRCh38]
ChrX:69665355 [GRCh37]
ChrX:Xq13.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_021120.4(DLG3):c.357+1G>C single nucleotide variant X-Linked mental retardation 90 [RCV000115022] ChrX:70445559 [GRCh38]
ChrX:69665409 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_021120.4(DLG3):c.985+1G>C single nucleotide variant X-Linked mental retardation 90 [RCV000115023] ChrX:70450784 [GRCh38]
ChrX:69670634 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_021120.4(DLG3):c.409-4G>T single nucleotide variant History of neurodevelopmental disorder [RCV000719358]|X-Linked mental retardation 90 [RCV000611355]|not provided [RCV000902270]|not specified [RCV000177325] ChrX:70449355 [GRCh38]
ChrX:69669205 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_021120.4(DLG3):c.197C>T (p.Thr66Ile) single nucleotide variant not provided [RCV000173514] ChrX:70445398 [GRCh38]
ChrX:69665248 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.1(chrX:70471666-70974210)x3 copy number gain See cases [RCV000136660] ChrX:70471666..70974210 [GRCh38]
ChrX:69691516..70194060 [GRCh37]
ChrX:69608241..70110785 [NCBI36]
ChrX:Xq13.1
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq13.1(chrX:70494282-70536572)x3 copy number gain See cases [RCV000138269] ChrX:70494282..70536572 [GRCh38]
ChrX:69714132..69756422 [GRCh37]
ChrX:69630857..69673147 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xq13.1(chrX:69991690-70536572)x2 copy number gain See cases [RCV000143093] ChrX:69991690..70536572 [GRCh38]
ChrX:69211540..69756422 [GRCh37]
ChrX:69128265..69673147 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_021120.4(DLG3):c.2280T>G (p.Tyr760Ter) single nucleotide variant not provided [RCV000153153] ChrX:70500922 [GRCh38]
ChrX:69720772 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_021120.4(DLG3):c.2076C>T (p.Ile692=) single nucleotide variant History of neurodevelopmental disorder [RCV000717849]|not specified [RCV000194015] ChrX:70499980 [GRCh38]
ChrX:69719830 [GRCh37]
ChrX:Xq13.1
benign|uncertain significance
NM_021120.4(DLG3):c.570C>T (p.Asp190=) single nucleotide variant not provided [RCV000178329] ChrX:70449726 [GRCh38]
ChrX:69669576 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.429C>T (p.Phe143=) single nucleotide variant History of neurodevelopmental disorder [RCV000718530]|not provided [RCV000906967]|not specified [RCV000195222] ChrX:70449379 [GRCh38]
ChrX:69669229 [GRCh37]
ChrX:Xq13.1
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021120.4(DLG3):c.1405+5_1405+7del deletion not provided [RCV000514299]|not specified [RCV000192808] ChrX:70454319..70454321 [GRCh38]
ChrX:69674169..69674171 [GRCh37]
ChrX:Xq13.1
benign|likely benign|uncertain significance
NM_021120.4(DLG3):c.1242C>T (p.Ile414=) single nucleotide variant not specified [RCV000193753] ChrX:70453733 [GRCh38]
ChrX:69673583 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1388C>T (p.Ala463Val) single nucleotide variant not specified [RCV000194596] ChrX:70454299 [GRCh38]
ChrX:69674149 [GRCh37]
ChrX:Xq13.1
likely benign|uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_021120.4(DLG3):c.532G>T (p.Gly178Trp) single nucleotide variant X-Linked mental retardation 90 [RCV000203539] ChrX:70449482 [GRCh38]
ChrX:69669332 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln) single nucleotide variant X-Linked mental retardation 90 [RCV000209901] ChrX:70492544 [GRCh38]
ChrX:69712394 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1(chrX:69645273-69674366)x3 copy number gain See cases [RCV000239813] ChrX:69645273..69674366 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021120.4(DLG3):c.357+16G>A single nucleotide variant not specified [RCV000362926] ChrX:70445574 [GRCh38]
ChrX:69665424 [GRCh37]
ChrX:Xq13.1
benign
NM_021120.4(DLG3):c.1145+586G>C single nucleotide variant not specified [RCV000368529] ChrX:70452612 [GRCh38]
ChrX:69672462 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_021120.4(DLG3):c.1302G>A (p.Ser434=) single nucleotide variant not provided [RCV000599148] ChrX:70453793 [GRCh38]
ChrX:69673643 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.298G>A (p.Gly100Ser) single nucleotide variant not provided [RCV000523556] ChrX:70445499 [GRCh38]
ChrX:69665349 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn) single nucleotide variant Epilepsy [RCV000415247] ChrX:70479213 [GRCh38]
ChrX:69699063 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.265_266delinsAA (p.Pro89Lys) indel not provided [RCV000723123] ChrX:70445466..70445467 [GRCh38]
ChrX:69665316..69665317 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021120.4(DLG3):c.985+4C>T single nucleotide variant not provided [RCV000479279] ChrX:70450787 [GRCh38]
ChrX:69670637 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1405+5G>C single nucleotide variant not provided [RCV000480576] ChrX:70454321 [GRCh38]
ChrX:69674171 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1832A>G (p.Asp611Gly) single nucleotide variant not provided [RCV000484905] ChrX:70498532 [GRCh38]
ChrX:69718382 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1829A>G (p.Glu610Gly) single nucleotide variant not provided [RCV000481818] ChrX:70498529 [GRCh38]
ChrX:69718379 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021120.4(DLG3):c.1281C>T (p.Arg427=) single nucleotide variant not specified [RCV000504423] ChrX:70453772 [GRCh38]
ChrX:69673622 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.873C>T (p.His291=) single nucleotide variant not specified [RCV000502335] ChrX:70450671 [GRCh38]
ChrX:69670521 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.1138T>C (p.Phe380Leu) single nucleotide variant not specified [RCV000502437] ChrX:70452019 [GRCh38]
ChrX:69671869 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_021120.4(DLG3):c.1172A>G (p.Lys391Arg) single nucleotide variant not specified [RCV000500347] ChrX:70453663 [GRCh38]
ChrX:69673513 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1145+659T>G single nucleotide variant X-Linked mental retardation 90 [RCV000508638] ChrX:70452685 [GRCh38]
ChrX:69672535 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021120.4(DLG3):c.351T>A (p.Tyr117Ter) single nucleotide variant Inborn genetic diseases [RCV000624054] ChrX:70445552 [GRCh38]
ChrX:69665402 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_021120.4(DLG3):c.631C>T (p.Arg211Ter) single nucleotide variant DLG3-Related Disorder [RCV001249426]|Inborn genetic diseases [RCV000624377] ChrX:70449787 [GRCh38]
ChrX:69669637 [GRCh37]
ChrX:Xq13.1
pathogenic|not provided
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Seizures [RCV000677113] ChrX:69478269..69722349 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xq13.1(chrX:69687350-69749125)x1 copy number loss not provided [RCV000684345] ChrX:69687350..69749125 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_021120.4(DLG3):c.377T>C (p.Met126Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000716251] ChrX:70448932 [GRCh38]
ChrX:69668782 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1794C>T (p.Asp598=) single nucleotide variant History of neurodevelopmental disorder [RCV000717624] ChrX:70495428 [GRCh38]
ChrX:69715278 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.1781C>T (p.Pro594Leu) single nucleotide variant History of neurodevelopmental disorder [RCV000716776]|not provided [RCV000895218] ChrX:70495415 [GRCh38]
ChrX:69715265 [GRCh37]
ChrX:Xq13.1
benign
NM_021120.4(DLG3):c.2295G>A (p.Lys765=) single nucleotide variant History of neurodevelopmental disorder [RCV000718808] ChrX:70500937 [GRCh38]
ChrX:69720787 [GRCh37]
ChrX:Xq13.1
benign
NM_021120.4(DLG3):c.1899G>A (p.Leu633=) single nucleotide variant History of neurodevelopmental disorder [RCV000718758] ChrX:70499204 [GRCh38]
ChrX:69719054 [GRCh37]
ChrX:Xq13.1
likely benign
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xq13.1(chrX:69404829-69678142)x2 copy number gain not provided [RCV000753574] ChrX:69404829..69678142 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xq13.1(chrX:69724731-69733826)x1 copy number loss not provided [RCV000753575] ChrX:69724731..69733826 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_021120.4(DLG3):c.2298C>A (p.Ile766=) single nucleotide variant not provided [RCV000903333] ChrX:70500940 [GRCh38]
ChrX:69720790 [GRCh37]
ChrX:Xq13.1
benign
NM_021120.4(DLG3):c.1128T>A (p.Ala376=) single nucleotide variant not provided [RCV000920840] ChrX:70452009 [GRCh38]
ChrX:69671859 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.273G>A (p.Pro91=) single nucleotide variant not provided [RCV000926856] ChrX:70445474 [GRCh38]
ChrX:69665324 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.573G>A (p.Val191=) single nucleotide variant not provided [RCV000925130] ChrX:70449729 [GRCh38]
ChrX:69669579 [GRCh37]
ChrX:Xq13.1
likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_021120.4(DLG3):c.1145+617T>C single nucleotide variant not provided [RCV000995940] ChrX:70452643 [GRCh38]
ChrX:69672493 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.93C>T (p.Gly31=) single nucleotide variant not provided [RCV000923076] ChrX:70445294 [GRCh38]
ChrX:69665144 [GRCh37]
ChrX:Xq13.1
benign
NM_021120.4(DLG3):c.660A>C (p.Pro220=) single nucleotide variant not provided [RCV000930269] ChrX:70449816 [GRCh38]
ChrX:69669666 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.1406-7G>A single nucleotide variant not provided [RCV000938842] ChrX:70479143 [GRCh38]
ChrX:69698993 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.966T>G (p.Ala322=) single nucleotide variant not provided [RCV000917757] ChrX:70450764 [GRCh38]
ChrX:69670614 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.159del (p.Tyr54fs) deletion not provided [RCV001008885] ChrX:70445360 [GRCh38]
ChrX:69665210 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_021120.4(DLG3):c.1371_1374GTCA[1] (p.Val459fs) microsatellite Intellectual disability [RCV000850216] ChrX:70454280..70454283 [GRCh38]
ChrX:69674130..69674133 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_021120.4(DLG3):c.2035C>T (p.Arg679Ter) single nucleotide variant not provided [RCV001007998] ChrX:70499939 [GRCh38]
ChrX:69719789 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_021120.4(DLG3):c.341G>C (p.Arg114Pro) single nucleotide variant X-Linked mental retardation 90 [RCV001198396] ChrX:70445542 [GRCh38]
ChrX:69665392 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.126dup (p.Gly43fs) duplication not provided [RCV001249252] ChrX:70445326..70445327 [GRCh38]
ChrX:69665176..69665177 [GRCh37]
ChrX:Xq13.1
not provided
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_021120.4(DLG3):c.1145+9C>T single nucleotide variant not provided [RCV000930870] ChrX:70452035 [GRCh38]
ChrX:69671885 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.201C>T (p.Pro67=) single nucleotide variant not provided [RCV000927422] ChrX:70445402 [GRCh38]
ChrX:69665252 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.985+9T>C single nucleotide variant not provided [RCV000913321] ChrX:70450792 [GRCh38]
ChrX:69670642 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.1640G>A (p.Arg547Lys) single nucleotide variant Intellectual disability [RCV001252470] ChrX:70492226 [GRCh38]
ChrX:69712076 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.1429A>G (p.Ile477Val) single nucleotide variant not provided [RCV001172015] ChrX:70479173 [GRCh38]
ChrX:69699023 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.788G>A (p.Gly263Glu) single nucleotide variant not provided [RCV001037120] ChrX:70450253 [GRCh38]
ChrX:69670103 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.952A>G (p.Asn318Asp) single nucleotide variant Intellectual disability [RCV001252471] ChrX:70450750 [GRCh38]
ChrX:69670600 [GRCh37]
ChrX:Xq13.1
likely benign
NM_021120.4(DLG3):c.221A>G (p.Lys74Arg) single nucleotide variant Inborn genetic diseases [RCV001265685] ChrX:70445422 [GRCh38]
ChrX:69665272 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.128G>T (p.Gly43Val) single nucleotide variant Inborn genetic diseases [RCV001266611] ChrX:70445329 [GRCh38]
ChrX:69665179 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.2300A>G (p.Tyr767Cys) single nucleotide variant Inborn genetic diseases [RCV001266937] ChrX:70500942 [GRCh38]
ChrX:69720792 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.1761dup (p.Glu588Ter) duplication Intellectual disability [RCV001260607] ChrX:70492582..70492583 [GRCh38]
ChrX:69712432..69712433 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021120.4(DLG3):c.1369del (p.Gln457fs) deletion not provided [RCV001268398] ChrX:70454279 [GRCh38]
ChrX:69674129 [GRCh37]
ChrX:Xq13.1
pathogenic
Single allele duplication Intellectual disability [RCV001271073] ChrX:69637865..70220983 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.840+1G>A single nucleotide variant not provided [RCV001268378] ChrX:70450306 [GRCh38]
ChrX:69670156 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_021120.4(DLG3):c.5A>C (p.His2Pro) single nucleotide variant X-Linked mental retardation 90 [RCV001329843] ChrX:70445206 [GRCh38]
ChrX:69665056 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.535G>C (p.Val179Leu) single nucleotide variant not provided [RCV001320758] ChrX:70449691 [GRCh38]
ChrX:69669541 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_021120.4(DLG3):c.42T>G (p.Tyr14Ter) single nucleotide variant not provided [RCV001269736] ChrX:70445243 [GRCh38]
ChrX:69665093 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_021120.4(DLG3):c.1405G>A (p.Glu469Lys) single nucleotide variant not provided [RCV001320228] ChrX:70454316 [GRCh38]
ChrX:69674166 [GRCh37]
ChrX:Xq13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2902 AgrOrtholog
COSMIC DLG3 COSMIC
Ensembl Genes ENSG00000082458 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000194900 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000363475 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000363480 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441393 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000194900 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000374355 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000374360 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000542398 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000082458 GTEx
HGNC ID HGNC:2902 ENTREZGENE
Human Proteome Map DLG3 Human Proteome Map
InterPro DLG1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DLG1_PEST_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DLG3_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1741 ENTREZGENE
OMIM 300189 OMIM
  300850 OMIM
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGUK_N_PEST UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164741439 PharmGKB
PIRSF MAGUK_DLGH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGUK_N_PEST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt DLG3_HUMAN UniProtKB/Swiss-Prot
  Q59FY1 ENTREZGENE, UniProtKB/TrEMBL
  Q5JUW8_HUMAN UniProtKB/TrEMBL
  Q92796 ENTREZGENE
UniProt Secondary B4E0H1 UniProtKB/Swiss-Prot
  D3DVU5 UniProtKB/Swiss-Prot
  Q5JUW6 UniProtKB/Swiss-Prot
  Q5JUW7 UniProtKB/Swiss-Prot
  Q9ULI8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 DLG3  discs large MAGUK scaffold protein 3    discs large homolog 3  Symbol and/or name change 5135510 APPROVED
2016-01-26 DLG3  discs large homolog 3    discs, large homolog 3 (Drosophila)  Symbol and/or name change 5135510 APPROVED