CDS1 (CDP-diacylglycerol synthase 1) - Rat Genome Database
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Gene: CDS1 (CDP-diacylglycerol synthase 1) Homo sapiens
Analyze
Symbol: CDS1
Name: CDP-diacylglycerol synthase 1
RGD ID: 734044
HGNC Page HGNC
Description: Exhibits phosphatidate cytidylyltransferase activity. Involved in CDP-diacylglycerol biosynthetic process; lipid droplet formation; and phosphatidylinositol biosynthetic process. Localizes to endoplasmic reticulum.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDP-DAG synthase 1; CDP-DG synthase 1; CDP-DG synthetase 1; CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1; CDP-diglyceride pyrophosphorylase 1; CDP-diglyceride synthase 1; CDP-diglyceride synthetase 1; CDS; CDS 1; CTP:phosphatidate cytidylyltransferase 1; phosphatidate cytidylyltransferase 1
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 Ensembl484,583,127 - 84,651,334 (+)EnsemblGRCh38hg38GRCh38
GRCh38484,582,931 - 84,651,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37485,504,280 - 85,572,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36485,723,081 - 85,789,379 (+)NCBINCBI36hg18NCBI36
Build 34485,861,235 - 85,927,518NCBI
Celera482,794,273 - 82,862,979 (+)NCBI
Cytogenetic Map4q21.23NCBI
HuRef481,245,783 - 81,314,483 (+)NCBIHuRef
CHM1_1485,481,027 - 85,549,447 (+)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 Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8863531   PMID:8889548   PMID:9115637   PMID:9407135   PMID:9806839   PMID:9889000   PMID:10681541   PMID:12477932   PMID:15489334   PMID:16344560   PMID:16461635   PMID:19913121  
PMID:20628086   PMID:21873635   PMID:25375833   PMID:26186194   PMID:26946540   PMID:28514442   PMID:28611215   PMID:31548309   PMID:32296183  


Genomics

Comparative Map Data
CDS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl484,583,127 - 84,651,334 (+)EnsemblGRCh38hg38GRCh38
GRCh38484,582,931 - 84,651,334 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37485,504,280 - 85,572,487 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36485,723,081 - 85,789,379 (+)NCBINCBI36hg18NCBI36
Build 34485,861,235 - 85,927,518NCBI
Celera482,794,273 - 82,862,979 (+)NCBI
Cytogenetic Map4q21.23NCBI
HuRef481,245,783 - 81,314,483 (+)NCBIHuRef
CHM1_1485,481,027 - 85,549,447 (+)NCBICHM1_1
Cds1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395101,912,996 - 101,971,724 (+)NCBIGRCm39mm39
GRCm39 Ensembl5101,912,996 - 101,971,724 (+)Ensembl
GRCm385101,765,093 - 101,823,858 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5101,765,130 - 101,823,858 (+)EnsemblGRCm38mm10GRCm38
MGSCv375102,194,149 - 102,252,871 (+)NCBIGRCm37mm9NCBIm37
MGSCv365102,005,432 - 102,064,154 (+)NCBImm8
Celera599,089,034 - 99,148,175 (+)NCBICelera
Cytogenetic Map5E5NCBI
Cds1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2147,820,328 - 7,882,943 (-)NCBI
Rnor_6.0 Ensembl149,396,512 - 9,456,990 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0149,396,511 - 9,456,964 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0149,358,067 - 9,418,520 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4149,074,826 - 9,135,391 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1149,072,988 - 9,135,335 (-)NCBI
Celera147,941,818 - 8,002,370 (-)NCBICelera
Cytogenetic Map14p22NCBI
Cds1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554745,057,833 - 5,104,235 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554745,057,833 - 5,104,235 (-)NCBIChiLan1.0ChiLan1.0
CDS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1445,379,856 - 45,448,170 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl445,379,856 - 45,448,170 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0439,530,229 - 39,598,543 (-)NCBIMhudiblu_PPA_v0panPan3
CDS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl328,349,027 - 8,415,295 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1328,349,033 - 8,416,451 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cds1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936738160,346 - 227,687 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8133,959,245 - 134,040,759 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18133,959,250 - 134,041,258 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28143,439,806 - 143,520,073 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CDS1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1732,947,644 - 33,014,807 (+)NCBI
ChlSab1.1 Ensembl732,948,053 - 33,014,944 (+)Ensembl
Cds1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249001,701,507 - 1,765,791 (+)NCBI

Position Markers
WI-11924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37485,570,190 - 85,570,339UniSTSGRCh37
Build 36485,789,214 - 85,789,363RGDNCBI36
Celera482,860,676 - 82,860,825RGD
Cytogenetic Map4q21.23UniSTS
HuRef481,312,180 - 81,312,329UniSTS
SHGC-59679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37485,570,134 - 85,570,323UniSTSGRCh37
Build 36485,789,158 - 85,789,347RGDNCBI36
Celera482,860,620 - 82,860,809RGD
Cytogenetic Map4q21.23UniSTS
HuRef481,312,124 - 81,312,313UniSTS
GeneMap99-GB4 RH Map4450.27UniSTS
SHGC-59792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37485,572,279 - 85,572,423UniSTSGRCh37
Build 36485,791,303 - 85,791,447RGDNCBI36
Celera482,862,765 - 82,862,909RGD
Cytogenetic Map4q21.23UniSTS
HuRef481,314,269 - 81,314,413UniSTS
GeneMap99-GB4 RH Map4450.27UniSTS
SHGC-50798  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37485,545,826 - 85,545,947UniSTSGRCh37
Build 36485,764,850 - 85,764,971RGDNCBI36
Celera482,836,312 - 82,836,433RGD
Cytogenetic Map4q21.23UniSTS
HuRef481,287,819 - 81,287,940UniSTS
TNG Radiation Hybrid Map450340.0UniSTS
G16738  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37485,545,805 - 85,545,942UniSTSGRCh37
Build 36485,764,829 - 85,764,966RGDNCBI36
Celera482,836,291 - 82,836,428RGD
Cytogenetic Map4q21.23UniSTS
HuRef481,287,798 - 81,287,935UniSTS
SHGC-67258  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q21.23UniSTS
GeneMap99-GB4 RH Map4450.06UniSTS
NCBI RH Map4984.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1051
Count of miRNA genes:707
Interacting mature miRNAs:777
Transcripts:ENST00000295887, ENST00000511298
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 548 14 876 180 108 32 1483 22 1571 267 782 1173 161 7 694 5
Low 1569 521 607 209 447 198 1322 1051 1971 145 625 423 14 1 985 649 1 2
Below cutoff 320 2429 237 231 970 231 1504 1075 189 6 51 14 212 1406

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC104082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI673547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU139278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE504303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN915398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000295887   ⟹   ENSP00000295887
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl484,583,127 - 84,651,334 (+)Ensembl
RefSeq Acc Id: ENST00000511298   ⟹   ENSP00000421316
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl484,583,269 - 84,619,511 (+)Ensembl
RefSeq Acc Id: NM_001263   ⟹   NP_001254
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,583,127 - 84,651,334 (+)NCBI
GRCh37485,504,057 - 85,572,493 (+)RGD
Build 36485,723,081 - 85,789,379 (+)NCBI Archive
Celera482,794,273 - 82,862,979 (+)RGD
HuRef481,245,783 - 81,314,483 (+)RGD
CHM1_1485,481,027 - 85,549,447 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005262687   ⟹   XP_005262744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,582,931 - 84,651,334 (+)NCBI
GRCh37485,504,057 - 85,572,493 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007648   ⟹   XP_016863137
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,582,931 - 84,651,334 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007649   ⟹   XP_016863138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,582,931 - 84,651,334 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007650   ⟹   XP_016863139
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,582,931 - 84,651,334 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017007651   ⟹   XP_016863140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,582,931 - 84,651,334 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001254   ⟸   NM_001263
- UniProtKB: Q92903 (UniProtKB/Swiss-Prot),   A0A024RDG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262744   ⟸   XM_005262687
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016863139   ⟸   XM_017007650
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016863137   ⟸   XM_017007648
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016863138   ⟸   XM_017007649
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016863140   ⟸   XM_017007651
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000295887   ⟸   ENST00000295887
RefSeq Acc Id: ENSP00000421316   ⟸   ENST00000511298

Promoters
RGD ID:6867906
Promoter ID:EPDNEW_H7118
Type:initiation region
Name:CDS1_1
Description:CDP-diacylglycerol synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7119  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,582,930 - 84,582,990EPDNEW
RGD ID:6867908
Promoter ID:EPDNEW_H7119
Type:initiation region
Name:CDS1_2
Description:CDP-diacylglycerol synthase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7118  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38484,583,127 - 84,583,187EPDNEW
RGD ID:6802121
Promoter ID:HG_KWN:48642
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562
Transcripts:NM_001263,   UC003HPB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36485,722,791 - 85,723,517 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]|See cases [RCV000053296] Chr4:74031395..90421127 [GRCh38]
Chr4:74897112..91342278 [GRCh37]
Chr4:75115976..91561301 [NCBI36]
Chr4:4q13.3-22.1
pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1 copy number loss See cases [RCV000053297] Chr4:79575748..92412449 [GRCh38]
Chr4:80496902..93333600 [GRCh37]
Chr4:80715926..93552623 [NCBI36]
Chr4:4q21.21-22.1
pathogenic
GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]|See cases [RCV000053319] Chr4:82248692..86778340 [GRCh38]
Chr4:83169845..87699493 [GRCh37]
Chr4:83388869..87918517 [NCBI36]
Chr4:4q21.22-21.3
pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
NM_001263.3(CDS1):c.342+1467A>G single nucleotide variant Lung cancer [RCV000095053] Chr4:84610992 [GRCh38]
Chr4:85532145 [GRCh37]
Chr4:4q21.23
uncertain significance
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3
pathogenic
GRCh38/hg38 4q21.23-21.3(chr4:84577519-86077547)x3 copy number gain See cases [RCV000135441] Chr4:84577519..86077547 [GRCh38]
Chr4:85498672..86998700 [GRCh37]
Chr4:85717696..87217724 [NCBI36]
Chr4:4q21.23-21.3
pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1 copy number loss See cases [RCV000136865] Chr4:79786514..85832807 [GRCh38]
Chr4:80707668..86753960 [GRCh37]
Chr4:80926692..86972984 [NCBI36]
Chr4:4q21.21-21.23
pathogenic
GRCh38/hg38 4q21.23-22.1(chr4:84329551-87679204)x1 copy number loss See cases [RCV000136623] Chr4:84329551..87679204 [GRCh38]
Chr4:85250704..88600356 [GRCh37]
Chr4:85469728..88819380 [NCBI36]
Chr4:4q21.23-22.1
pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24
pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q21.23-22.2(chr4:84329551-93654474)x1 copy number loss See cases [RCV000139231] Chr4:84329551..93654474 [GRCh38]
Chr4:85250704..94575625 [GRCh37]
Chr4:85469728..94794648 [NCBI36]
Chr4:4q21.23-22.2
likely benign
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1 copy number loss See cases [RCV000140416] Chr4:80043949..86948317 [GRCh38]
Chr4:80965103..87869469 [GRCh37]
Chr4:81184127..88088493 [NCBI36]
Chr4:4q21.21-21.3
pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
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 4q21.21-22.1(chr4:82283358-90341831)x1 copy number loss See cases [RCV000447691] Chr4:82283358..90341831 [GRCh37]
Chr4:4q21.21-22.1
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 4q21.22-21.23(chr4:83954528-85807754)x1 copy number loss See cases [RCV000510348] Chr4:83954528..85807754 [GRCh37]
Chr4:4q21.22-21.23
uncertain significance
GRCh37/hg19 4q21.23(chr4:84780467-85971501)x1 copy number loss See cases [RCV000511522] Chr4:84780467..85971501 [GRCh37]
Chr4:4q21.23
uncertain significance
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 4q21.21-22.3(chr4:81314915-96636651)x1 copy number loss not provided [RCV000682426] Chr4:81314915..96636651 [GRCh37]
Chr4:4q21.21-22.3
pathogenic
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-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 copy number loss See cases [RCV000790579] Chr4:80482400..92572499 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1 copy number loss not provided [RCV001005566] Chr4:82593140..85651685 [GRCh37]
Chr4:4q21.22-21.23
pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23
pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228) copy number loss not provided [RCV000767792] Chr4:82043901..88334228 [GRCh37]
Chr4:4q21.21-22.1
pathogenic
NM_001263.4(CDS1):c.723-8A>T single nucleotide variant not provided [RCV000956229] Chr4:84635256 [GRCh38]
Chr4:85556409 [GRCh37]
Chr4:4q21.23
likely benign
Single allele deletion Chromosome 4q21 deletion syndrome [RCV001172266] Chr4:83196931..85540706 [GRCh37]
Chr4:4q21.22-21.23
pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1800 AgrOrtholog
COSMIC CDS1 COSMIC
Ensembl Genes ENSG00000163624 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000295887 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000421316 UniProtKB/TrEMBL
Ensembl Transcript ENST00000295887 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000511298 UniProtKB/TrEMBL
GTEx ENSG00000163624 GTEx
HGNC ID HGNC:1800 ENTREZGENE
Human Proteome Map CDS1 Human Proteome Map
InterPro PC_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PC_Trfase_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1040 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1040 ENTREZGENE
OMIM 603548 OMIM
PANTHER PTHR13773 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26346 PharmGKB
PIRSF PC_trans_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CDS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RDG8 ENTREZGENE, UniProtKB/TrEMBL
  CDS1_HUMAN UniProtKB/Swiss-Prot
  D6RGC8_HUMAN UniProtKB/TrEMBL
  Q92903 ENTREZGENE
UniProt Secondary B2RAL5 UniProtKB/Swiss-Prot
  O00163 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CDS1  CDP-diacylglycerol synthase 1  CDS1  CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1  Symbol and/or name change 5135510 APPROVED
2011-09-01 CDS1  CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1  CDS1  CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1  Symbol and/or name change 5135510 APPROVED