DGKQ (diacylglycerol kinase theta) - Rat Genome Database

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Gene: DGKQ (diacylglycerol kinase theta) Homo sapiens
Analyze
Symbol: DGKQ
Name: diacylglycerol kinase theta
RGD ID: 1318208
HGNC Page HGNC
Description: Enables several functions, including diacylglycerol kinase activity; enzyme binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including regulation of protein phosphorylation; regulation of steroid metabolic process; and response to purine-containing compound. Located in several cellular components, including endosome; nuclear speck; and vesicle membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DAG kinase theta; DAGK; DAGK4; DAGK7; DGK-theta; DGKtheta; diacylglycerol kinase, theta 110kDa; diglyceride kinase theta; testis tissue sperm-binding protein Li 38a
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 Ensembl4958,887 - 986,895 (-)EnsemblGRCh38hg38GRCh38
GRCh384958,887 - 973,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374952,675 - 967,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364942,675 - 957,344 (-)NCBINCBI36hg18NCBI36
Build 344942,505 - 957,174NCBI
Celera4889,584 - 904,387 (-)NCBI
Cytogenetic Map4p16.3NCBI
HuRef4924,040 - 936,230 (-)NCBIHuRef
CHM1_14952,456 - 967,132 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8617502   PMID:8626538   PMID:9099683   PMID:9438377   PMID:10066731   PMID:11309392   PMID:12477932   PMID:12799190   PMID:15632189   PMID:16751776   PMID:17664281   PMID:18985386  
PMID:19336002   PMID:20057501   PMID:20070850   PMID:20736409   PMID:21873635   PMID:22438815   PMID:22451204   PMID:22627129   PMID:22658674   PMID:22732145   PMID:22939629   PMID:23091060  
PMID:23610160   PMID:23618683   PMID:23767959   PMID:23949095   PMID:24369117   PMID:25064009   PMID:28514442   PMID:30021884   PMID:30745168   PMID:31836314   PMID:32296183  


Genomics

Comparative Map Data
DGKQ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl4958,887 - 986,895 (-)EnsemblGRCh38hg38GRCh38
GRCh384958,887 - 973,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh374952,675 - 967,357 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364942,675 - 957,344 (-)NCBINCBI36hg18NCBI36
Build 344942,505 - 957,174NCBI
Celera4889,584 - 904,387 (-)NCBI
Cytogenetic Map4p16.3NCBI
HuRef4924,040 - 936,230 (-)NCBIHuRef
CHM1_14952,456 - 967,132 (-)NCBICHM1_1
Dgkq
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395108,794,910 - 108,808,696 (-)NCBIGRCm39mm39
GRCm39 Ensembl5108,794,559 - 108,817,538 (-)Ensembl
GRCm385108,647,044 - 108,660,830 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5108,646,693 - 108,669,672 (-)EnsemblGRCm38mm10GRCm38
MGSCv375109,076,063 - 109,089,788 (-)NCBIGRCm37mm9NCBIm37
MGSCv365108,887,346 - 108,901,071 (-)NCBImm8
Celera5105,768,622 - 105,782,348 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map553.24NCBI
Dgkq
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2141,059,125 - 1,073,131 (+)NCBI
Rnor_6.0 Ensembl142,069,409 - 2,083,370 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0142,069,409 - 2,083,370 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0142,064,851 - 2,078,913 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4141,600,280 - 1,614,154 (+)NCBIRGSC3.4rn4RGSC3.4
Celera141,098,511 - 1,112,472 (+)NCBICelera
Cytogenetic Map14p22NCBI
Dgkq
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955514453,886 - 464,978 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955514452,548 - 475,240 (-)NCBIChiLan1.0ChiLan1.0
DGKQ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14993,261 - 1,009,414 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4994,985 - 1,007,724 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v041,075,133 - 1,090,081 (-)NCBIMhudiblu_PPA_v0panPan3
DGKQ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1391,544,350 - 91,554,494 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl391,544,219 - 91,554,565 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha394,009,425 - 94,019,552 (+)NCBI
ROS_Cfam_1.0392,541,158 - 92,551,573 (+)NCBI
UMICH_Zoey_3.1391,714,767 - 91,724,838 (+)NCBI
UNSW_CanFamBas_1.0391,767,739 - 91,777,865 (+)NCBI
UU_Cfam_GSD_1.0392,151,558 - 92,161,686 (+)NCBI
Dgkq
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528568,523,999 - 68,537,133 (+)NCBI
SpeTri2.0NW_00493647722,225,624 - 22,238,825 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DGKQ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8313,327 - 325,095 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18313,325 - 325,089 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DGKQ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12747,804,904 - 47,819,291 (+)NCBI
ChlSab1.1 Ensembl2747,805,017 - 47,817,583 (+)Ensembl
Vero_WHO_p1.0NW_0236668089,565 - 24,022 (-)NCBI
Dgkq
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475526,179,099 - 26,197,764 (+)NCBI

Position Markers
A008Y17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374953,208 - 953,410UniSTSGRCh37
Build 364943,208 - 943,410RGDNCBI36
Celera4890,117 - 890,319RGD
Cytogenetic Map4p16.3UniSTS
HuRef4924,576 - 924,778UniSTS
GeneMap99-GB4 RH Map43.95UniSTS
RH78064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374952,278 - 952,408UniSTSGRCh37
Build 364942,278 - 942,408RGDNCBI36
Celera4889,187 - 889,317RGD
Cytogenetic Map4p16.3UniSTS
HuRef4923,646 - 923,776UniSTS
GeneMap99-GB4 RH Map422.24UniSTS
NCBI RH Map430.0UniSTS
SHGC-68209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374952,905 - 953,073UniSTSGRCh37
Build 364942,905 - 943,073RGDNCBI36
Celera4889,814 - 889,982RGD
Cytogenetic Map4p16.3UniSTS
HuRef4924,273 - 924,441UniSTS
GeneMap99-GB4 RH Map422.24UniSTS
NCBI RH Map455.5UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3354
Count of miRNA genes:930
Interacting mature miRNAs:1159
Transcripts:ENST00000273814, ENST00000502309, ENST00000509465, ENST00000510286, ENST00000515182
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.


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 1977 1620 1226 218 1205 88 3107 736 2783 159 1314 1482 146 823 1806 3
Low 462 1371 500 406 734 377 1249 1461 950 260 146 131 29 1 381 982 3 2
Below cutoff 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007814 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW139889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN990411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ596864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU727647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000273814   ⟹   ENSP00000273814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4958,887 - 973,569 (-)Ensembl
RefSeq Acc Id: ENST00000502309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4963,142 - 967,175 (-)Ensembl
RefSeq Acc Id: ENST00000509465   ⟹   ENSP00000425862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4958,888 - 973,322 (-)Ensembl
RefSeq Acc Id: ENST00000510286   ⟹   ENSP00000427268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4968,291 - 986,895 (-)Ensembl
RefSeq Acc Id: ENST00000515182   ⟹   ENSP00000421756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4960,615 - 962,440 (-)Ensembl
RefSeq Acc Id: NM_001347   ⟹   NP_001338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384958,887 - 973,569 (-)NCBI
GRCh374952,672 - 967,348 (-)NCBI
Build 364942,675 - 957,344 (-)NCBI Archive
HuRef4924,040 - 936,230 (-)NCBI
CHM1_14952,456 - 967,132 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513411   ⟹   XP_011511713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384958,887 - 973,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513412   ⟹   XP_011511714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384962,519 - 973,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513414   ⟹   XP_011511716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384963,215 - 973,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513415   ⟹   XP_011511717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384965,199 - 973,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007814   ⟹   XP_016863303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384963,150 - 973,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007815   ⟹   XP_016863304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384965,199 - 973,545 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002959715
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384962,842 - 973,545 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001338   ⟸   NM_001347
- UniProtKB: P52824 (UniProtKB/Swiss-Prot),   A0A140VKC1 (UniProtKB/TrEMBL),   Q59FF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011511713   ⟸   XM_011513411
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011511714   ⟸   XM_011513412
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011511716   ⟸   XM_011513414
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011511717   ⟸   XM_011513415
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016863303   ⟸   XM_017007814
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016863304   ⟸   XM_017007815
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000425862   ⟸   ENST00000509465
RefSeq Acc Id: ENSP00000273814   ⟸   ENST00000273814
RefSeq Acc Id: ENSP00000427268   ⟸   ENST00000510286
RefSeq Acc Id: ENSP00000421756   ⟸   ENST00000515182
Promoters
RGD ID:6812496
Promoter ID:HG_ACW:57783
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:DGKQ.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 364950,711 - 951,567 (-)MPROMDB
RGD ID:6802163
Promoter ID:HG_KWN:47640
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000405681,   NM_001347,   UC010IBN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364956,961 - 957,562 (-)MPROMDB
RGD ID:6867110
Promoter ID:EPDNEW_H6563
Type:initiation region
Name:DGKQ_1
Description:diacylglycerol kinase theta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6564  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384973,565 - 973,625EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000050809] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1405362)x3 copy number gain See cases [RCV000051563] Chr4:72555..1405362 [GRCh38]
Chr4:72447..1399150 [GRCh37]
Chr4:62447..1389150 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1 copy number loss See cases [RCV000051638] Chr4:56878..2213205 [GRCh38]
Chr4:56772..2214932 [GRCh37]
Chr4:46772..2184730 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]|See cases [RCV000051639] Chr4:72355..2108748 [GRCh38]
Chr4:72247..2110475 [GRCh37]
Chr4:62247..2080273 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1 copy number loss See cases [RCV000051640] Chr4:72355..2400359 [GRCh38]
Chr4:72247..2402086 [GRCh37]
Chr4:62247..2371884 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]|See cases [RCV000051669] Chr4:72555..2009034 [GRCh38]
Chr4:72447..2010761 [GRCh37]
Chr4:62447..1980559 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1 copy number loss See cases [RCV000051643] Chr4:72555..2325477 [GRCh38]
Chr4:72447..2327204 [GRCh37]
Chr4:62447..2297002 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1 copy number loss See cases [RCV000053259] Chr4:85149..1919505 [GRCh38]
Chr4:85040..1921232 [GRCh37]
Chr4:75040..1891030 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1 copy number loss See cases [RCV000053260] Chr4:85149..2008535 [GRCh38]
Chr4:85040..2010262 [GRCh37]
Chr4:75040..1980060 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1 copy number loss See cases [RCV000053261] Chr4:336191..2213205 [GRCh38]
Chr4:507005..2214932 [GRCh37]
Chr4:319980..2184730 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3(chr4:958618-1026629)x3 copy number gain See cases [RCV000134620] Chr4:958618..1026629 [GRCh38]
Chr4:952406..1020417 [GRCh37]
Chr4:942406..1010417 [NCBI36]
Chr4:4p16.3
benign|likely benign|conflicting data from submitters
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:620566-1405362)x3 copy number gain See cases [RCV000135648] Chr4:620566..1405362 [GRCh38]
Chr4:614355..1399150 [GRCh37]
Chr4:604355..1389150 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1153038)x1 copy number loss See cases [RCV000137135] Chr4:72555..1153038 [GRCh38]
Chr4:72447..1146826 [GRCh37]
Chr4:62447..1136826 [NCBI36]
Chr4:4p16.3
likely benign|uncertain significance
GRCh38/hg38 4p16.3(chr4:51519-1405362)x1 copy number loss See cases [RCV000136895] Chr4:51519..1405362 [GRCh38]
Chr4:51413..1399150 [GRCh37]
Chr4:41413..1389150 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1581567)x3 copy number gain See cases [RCV000137386] Chr4:36424..1581567 [GRCh38]
Chr4:36424..1583294 [GRCh37]
Chr4:26424..1553260 [NCBI36]
Chr4:4p16.3
likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-1581567)x1 copy number loss See cases [RCV000139439] Chr4:72555..1581567 [GRCh38]
Chr4:72447..1583294 [GRCh37]
Chr4:62447..1553260 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:958677-1026629)x4 copy number gain See cases [RCV000140384] Chr4:958677..1026629 [GRCh38]
Chr4:952465..1020417 [GRCh37]
Chr4:942465..1010417 [NCBI36]
Chr4:4p16.3
benign
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1 copy number loss See cases [RCV000141882] Chr4:68453..1997458 [GRCh38]
Chr4:68345..1999185 [GRCh37]
Chr4:58345..1968983 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1
pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1 copy number loss See cases [RCV000143324] Chr4:72555..2689579 [GRCh38]
Chr4:72447..2691306 [GRCh37]
Chr4:62447..2661104 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1562150)x1 copy number loss See cases [RCV000143217] Chr4:36424..1562150 [GRCh38]
Chr4:36424..1563877 [GRCh37]
Chr4:26424..1533937 [NCBI36]
Chr4:4p16.3
uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1 copy number loss See cases [RCV000143172] Chr4:36424..1956092 [GRCh38]
Chr4:36424..1957819 [GRCh37]
Chr4:26424..1927617 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1
pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1 copy number loss See cases [RCV000148263] Chr4:72555..2108607 [GRCh38]
Chr4:72447..2110334 [GRCh37]
Chr4:62447..2080132 [NCBI36]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.3(chr4:586039-964873)x3 copy number gain See cases [RCV000240015] Chr4:586039..964873 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1 copy number loss See cases [RCV000449467] Chr4:68345..2126308 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1 copy number loss See cases [RCV000447208] Chr4:68345..2155022 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1 copy number loss See cases [RCV000449010] Chr4:68345..2502977 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1 copy number loss See cases [RCV000447910] Chr4:29214..1925508 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3
likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33
pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3 copy number gain See cases [RCV000510819] Chr4:910410..1798461 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-1677853)x1 copy number loss See cases [RCV000511217] Chr4:68345..1677853 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3(chr4:917519-1385258)x3 copy number gain not provided [RCV000682365] Chr4:917519..1385258 [GRCh37]
Chr4:4p16.3
uncertain significance
Single allele duplication not provided [RCV000677909] Chr4:12440..1583294 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3(chr4:11525-973036)x1 copy number loss not provided [RCV000743146] Chr4:11525..973036 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3(chr4:941924-1031844)x3 copy number gain not provided [RCV000743176] Chr4:941924..1031844 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:942006-1045265)x3 copy number gain not provided [RCV000743177] Chr4:942006..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:946226-1037125)x3 copy number gain not provided [RCV000743178] Chr4:946226..1037125 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947024-1019101)x3 copy number gain not provided [RCV000743179] Chr4:947024..1019101 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947024-1033685)x3 copy number gain not provided [RCV000743180] Chr4:947024..1033685 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947024-1045265)x3 copy number gain not provided [RCV000743181] Chr4:947024..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1019101)x3 copy number gain not provided [RCV000743182] Chr4:947035..1019101 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1019312)x3 copy number gain not provided [RCV000743183] Chr4:947035..1019312 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1033685)x3 copy number gain not provided [RCV000743184] Chr4:947035..1033685 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:947035-1045265)x3 copy number gain not provided [RCV000743185] Chr4:947035..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:951746-1045265)x3 copy number gain not provided [RCV000743186] Chr4:951746..1045265 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:954422-1019312)x3 copy number gain not provided [RCV000743187] Chr4:954422..1019312 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:954449-985076)x1 copy number loss not provided [RCV000743188] Chr4:954449..985076 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:954449-985418)x1 copy number loss not provided [RCV000743189] Chr4:954449..985418 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:954449-1019312)x3 copy number gain not provided [RCV000743190] Chr4:954449..1019312 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1 copy number loss not provided [RCV000743153] Chr4:49450..2010397 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_001347.4(DGKQ):c.165C>T (p.Pro55=) single nucleotide variant not provided [RCV000965668] Chr4:973318 [GRCh38]
Chr4:967106 [GRCh37]
Chr4:4p16.3
benign
NM_001347.4(DGKQ):c.1465G>A (p.Val489Met) single nucleotide variant not provided [RCV000839750] Chr4:966042 [GRCh38]
Chr4:959830 [GRCh37]
Chr4:4p16.3
likely benign
GRCh37/hg19 4p16.3(chr4:850700-965829)x3 copy number gain not provided [RCV000847572] Chr4:850700..965829 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3
pathogenic
NM_001347.4(DGKQ):c.2316-10C>T single nucleotide variant not provided [RCV000974603] Chr4:961844 [GRCh38]
Chr4:955632 [GRCh37]
Chr4:4p16.3
benign
NM_001347.4(DGKQ):c.2190C>T (p.Asp730=) single nucleotide variant not provided [RCV000956166] Chr4:962459 [GRCh38]
Chr4:956247 [GRCh37]
Chr4:4p16.3
benign
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1 copy number loss not provided [RCV001005508] Chr4:68345..2786584 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1
pathogenic
GRCh37/hg19 4p16.3(chr4:1-1328868)x1 copy number loss not provided [RCV001258632] Chr4:1..1328868 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:794088-1179515)x1 copy number loss not provided [RCV001258639] Chr4:794088..1179515 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-1109959)x1 copy number loss not provided [RCV001258641] Chr4:68345..1109959 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2
pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1 copy number loss not provided [RCV001258634] Chr4:68345..2137211 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:687413-1054539)x3 copy number gain not provided [RCV001258636] Chr4:687413..1054539 [GRCh37]
Chr4:4p16.3
uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3 copy number gain not provided [RCV001258635] Chr4:68345..2503033 [GRCh37]
Chr4:4p16.3
pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Renal hypoplasia (disease) [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3
pathogenic
NC_000004.11:g.(?_493125)_(998181_?)del deletion Mental retardation, autosomal recessive 53 [RCV001382628] Chr4:493125..998181 [GRCh37]
Chr4:4p16.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2856 AgrOrtholog
COSMIC DGKQ COSMIC
Ensembl Genes ENSG00000145214 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000273814 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421756 UniProtKB/TrEMBL
  ENSP00000425862 UniProtKB/TrEMBL
  ENSP00000427268 UniProtKB/TrEMBL
Ensembl Transcript ENST00000273814 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509465 UniProtKB/TrEMBL
  ENST00000510286 UniProtKB/TrEMBL
  ENST00000515182 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.10330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145214 GTEx
HGNC ID HGNC:2856 ENTREZGENE
Human Proteome Map DGKQ Human Proteome Map
InterPro ATP-NAD_kinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAG/PE-bd UniProtKB/TrEMBL
  DGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Diacylglycerol_kin_accessory UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Diacylglycerol_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD/diacylglycerol_kinase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1609 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1609 ENTREZGENE
OMIM 601207 OMIM
PANTHER PTHR11255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGK_acc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGK_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27317 PharmGKB
PRINTS DAGPEDOMAIN UniProtKB/TrEMBL
PROSITE DAGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DAGKa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00314 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF111331 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VKC1 ENTREZGENE, UniProtKB/TrEMBL
  D6RJB4_HUMAN UniProtKB/TrEMBL
  DGKQ_HUMAN UniProtKB/Swiss-Prot
  H0Y8Q7_HUMAN UniProtKB/TrEMBL
  H0YA20_HUMAN UniProtKB/TrEMBL
  P52824 ENTREZGENE
  Q59FF7 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q6P3W4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 DGKQ  diacylglycerol kinase theta    diacylglycerol kinase, theta 110kDa  Symbol and/or name change 5135510 APPROVED
2011-08-17 DGKQ  diacylglycerol kinase, theta 110kDa  DGKQ  diacylglycerol kinase, theta 110kDa  Symbol and/or name change 5135510 APPROVED