CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) - Rat Genome Database
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Gene: CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase) Homo sapiens
Analyze
Symbol: CAD
Name: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
RGD ID: 1348167
HGNC Page HGNC
Description: Exhibits several functions, including dihydroorotase activity; identical protein binding activity; and zinc ion binding activity. Involved in 'de novo' pyrimidine nucleobase biosynthetic process. Localizes to cytosol; nuclear matrix; and nucleoplasm. Implicated in early infantile epileptic encephalopathy 50.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAD trifunctional protein; CDG1Z; DEE50; EIEE50; GATD4; multifunctional protein CAD
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 Ensembl227,217,369 - 27,243,943 (+)EnsemblGRCh38hg38GRCh38
GRCh38227,217,369 - 27,243,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37227,440,237 - 27,466,811 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37227,440,258 - 27,466,660 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,293,762 - 27,320,158 (+)NCBINCBI36hg18NCBI36
Build 34227,351,908 - 27,378,305NCBI
Celera227,286,585 - 27,312,981 (+)NCBI
Cytogenetic Map2p23.3NCBI
HuRef227,181,964 - 27,208,360 (+)NCBIHuRef
CHM1_1227,370,163 - 27,396,565 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

References

Additional References at PubMed
PMID:1979741   PMID:2565865   PMID:2885743   PMID:4092695   PMID:8619816   PMID:9525610   PMID:11854437   PMID:11986331   PMID:12438317   PMID:12477932   PMID:12746293   PMID:14523024  
PMID:14559996   PMID:15324660   PMID:15326225   PMID:15489334   PMID:15621215   PMID:15890648   PMID:16051665   PMID:16055720   PMID:16155188   PMID:16964243   PMID:17081983   PMID:17266347  
PMID:18457437   PMID:18679823   PMID:18729074   PMID:18854154   PMID:19380743   PMID:19394292   PMID:19946888   PMID:20085233   PMID:20131911   PMID:20379614   PMID:20458337   PMID:20473970  
PMID:20659789   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21319273   PMID:21575865   PMID:21654808   PMID:21697133   PMID:21873635   PMID:21982950   PMID:22145905   PMID:22268729  
PMID:22586326   PMID:22623428   PMID:22939629   PMID:23125841   PMID:23143245   PMID:23254330   PMID:23438482   PMID:23443559   PMID:23455922   PMID:23594158   PMID:23703321   PMID:23752268  
PMID:24316846   PMID:24332717   PMID:24550385   PMID:24639526   PMID:24711643   PMID:25315684   PMID:25324306   PMID:25422319   PMID:25437307   PMID:25670202   PMID:25678555   PMID:25796446  
PMID:25798074   PMID:25852190   PMID:25921289   PMID:25940091   PMID:25959826   PMID:25963833   PMID:26170170   PMID:26344197   PMID:26446564   PMID:26471122   PMID:26496610   PMID:26549023  
PMID:26618866   PMID:26638075   PMID:26687479   PMID:26752685   PMID:26831064   PMID:26972000   PMID:27025967   PMID:27375898   PMID:27503909   PMID:27545878   PMID:27591049   PMID:27609421  
PMID:27637333   PMID:27684187   PMID:27880917   PMID:28007989   PMID:28137758   PMID:28330616   PMID:28368455   PMID:28378594   PMID:28380382   PMID:28515276   PMID:28552578   PMID:28581483  
PMID:28685749   PMID:28775317   PMID:28833948   PMID:28902428   PMID:29229926   PMID:29331416   PMID:29467282   PMID:29507755   PMID:29511261   PMID:29511337   PMID:29563501   PMID:29564676  
PMID:29568061   PMID:29777862   PMID:29844126   PMID:29845934   PMID:29884807   PMID:29955894   PMID:29991511   PMID:30209976   PMID:30258100   PMID:30268498   PMID:30315107   PMID:30352685  
PMID:30397336   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30711629   PMID:30737378   PMID:30833792   PMID:30940648   PMID:30948266   PMID:31010829   PMID:31048545   PMID:31067453  
PMID:31091453   PMID:31239290   PMID:31300519   PMID:31343991   PMID:31527615   PMID:31586073   PMID:31620119   PMID:31685992   PMID:31751430   PMID:31792442   PMID:31980649   PMID:32416067  
PMID:32694731   PMID:32720728   PMID:32780723   PMID:32867711   PMID:32877691   PMID:33005030   PMID:33144569  


Genomics

Comparative Map Data
CAD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl227,217,369 - 27,243,943 (+)EnsemblGRCh38hg38GRCh38
GRCh38227,217,369 - 27,243,943 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37227,440,237 - 27,466,811 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37227,440,258 - 27,466,660 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36227,293,762 - 27,320,158 (+)NCBINCBI36hg18NCBI36
Build 34227,351,908 - 27,378,305NCBI
Celera227,286,585 - 27,312,981 (+)NCBI
Cytogenetic Map2p23.3NCBI
HuRef227,181,964 - 27,208,360 (+)NCBIHuRef
CHM1_1227,370,163 - 27,396,565 (+)NCBICHM1_1
Cad
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39531,211,964 - 31,235,823 (+)NCBIGRCm39mm39
GRCm38531,054,620 - 31,078,479 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl531,054,780 - 31,078,479 (+)EnsemblGRCm38mm10GRCm38
MGSCv37531,357,184 - 31,380,852 (+)NCBIGRCm37mm9NCBIm37
MGSCv36531,331,392 - 31,355,060 (+)NCBImm8
Celera528,526,834 - 28,551,927 (+)NCBICelera
Cytogenetic Map5B1NCBI
Cad
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2625,292,133 - 25,315,176 (-)NCBI
Rnor_6.0 Ensembl626,657,780 - 26,680,284 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0626,657,507 - 26,680,459 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0636,472,498 - 36,495,450 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4625,272,416 - 25,296,266 (-)NCBIRGSC3.4rn4RGSC3.4
Celera624,783,039 - 24,805,943 (-)NCBICelera
Cytogenetic Map6q14NCBI
Cad
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554699,203,434 - 9,227,865 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554699,203,433 - 9,227,526 (+)NCBIChiLan1.0ChiLan1.0
CAD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A27,306,488 - 27,332,804 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A27,306,527 - 27,332,804 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02A27,218,699 - 27,245,156 (+)NCBIMhudiblu_PPA_v0panPan3
CAD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1721,197,826 - 21,221,635 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11721,198,839 - 21,221,897 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Cad
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049364935,308,268 - 5,332,934 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3111,887,020 - 111,914,495 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13111,887,017 - 111,914,511 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CAD
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11480,371,154 - 80,399,193 (-)NCBI
ChlSab1.1 Ensembl1480,371,096 - 80,398,914 (-)Ensembl
Cad
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247389,318,213 - 9,340,765 (+)NCBI

Position Markers
G54144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,439,795 - 27,439,967UniSTSGRCh37
Build 36227,293,299 - 27,293,471RGDNCBI36
Celera227,286,123 - 27,286,295RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p22-p21UniSTS
HuRef227,181,502 - 27,181,674UniSTS
PMC139788P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,462,198 - 27,463,188UniSTSGRCh37
Build 36227,315,702 - 27,316,692RGDNCBI36
Celera227,308,525 - 27,309,515RGD
Cytogenetic Map2p22-p21UniSTS
HuRef227,203,904 - 27,204,894UniSTS
PMC207647P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,440,237 - 27,440,555UniSTSGRCh37
Build 36227,293,741 - 27,294,059RGDNCBI36
Celera227,286,564 - 27,286,882RGD
Cytogenetic Map2p22-p21UniSTS
HuRef227,181,943 - 27,182,261UniSTS
RH70745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,439,796 - 27,439,971UniSTSGRCh37
Build 36227,293,300 - 27,293,475RGDNCBI36
Celera227,286,124 - 27,286,299RGD
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p22-p21UniSTS
HuRef227,181,503 - 27,181,678UniSTS
GeneMap99-GB4 RH Map297.59UniSTS
WI-14618  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p22-p21UniSTS
Whitehead-RH Map2146.3UniSTS
SGC30858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37227,462,312 - 27,462,663UniSTSGRCh37
Celera227,308,639 - 27,308,990UniSTS
Cytogenetic Map2p22-p21UniSTS
HuRef227,204,018 - 27,204,369UniSTS
GeneMap99-GB4 RH Map297.59UniSTS
Whitehead-RH Map2159.8UniSTS
NCBI RH Map2175.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2567
Count of miRNA genes:932
Interacting mature miRNAs:1103
Transcripts:ENST00000264705, ENST00000403525, ENST00000428460, ENST00000456311, ENST00000458503, ENST00000464159, ENST00000475695, ENST00000479002, ENST00000487239, ENST00000491461, ENST00000491891
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 1791 1141 1239 255 1160 158 3179 758 1608 201 1411 1435 111 932 1758 3
Low 648 1840 487 369 786 307 1178 1435 2125 218 49 178 63 1 272 1030 3 2
Below cutoff 9 5 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB621827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF015947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG766243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM927624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU541191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU558264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D78586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M38561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264705   ⟹   ENSP00000264705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,217,369 - 27,243,943 (+)Ensembl
RefSeq Acc Id: ENST00000403525   ⟹   ENSP00000384510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,217,408 - 27,243,785 (+)Ensembl
RefSeq Acc Id: ENST00000428460   ⟹   ENSP00000405416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,241,921 - 27,243,590 (+)Ensembl
RefSeq Acc Id: ENST00000456311   ⟹   ENSP00000388740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,239,118 - 27,241,951 (+)Ensembl
RefSeq Acc Id: ENST00000458503   ⟹   ENSP00000414742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,235,633 - 27,238,178 (+)Ensembl
RefSeq Acc Id: ENST00000464159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,227,501 - 27,232,643 (+)Ensembl
RefSeq Acc Id: ENST00000475695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,233,079 - 27,234,135 (+)Ensembl
RefSeq Acc Id: ENST00000479002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,234,596 - 27,235,876 (+)Ensembl
RefSeq Acc Id: ENST00000487239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,239,152 - 27,240,222 (+)Ensembl
RefSeq Acc Id: ENST00000491461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,239,331 - 27,240,218 (+)Ensembl
RefSeq Acc Id: ENST00000491891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl227,226,224 - 27,231,572 (+)Ensembl
RefSeq Acc Id: NM_001306079   ⟹   NP_001293008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,217,369 - 27,243,943 (+)NCBI
CHM1_1227,370,163 - 27,396,565 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004341   ⟹   NP_004332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,217,369 - 27,243,943 (+)NCBI
GRCh37227,440,258 - 27,466,660 (+)NCBI
Build 36227,293,762 - 27,320,158 (+)NCBI Archive
HuRef227,181,964 - 27,208,360 (+)ENTREZGENE
CHM1_1227,370,163 - 27,396,565 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712101   ⟹   XP_006712164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,217,506 - 27,243,792 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453131   ⟹   XP_024308899
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,225,738 - 27,243,792 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004332   ⟸   NM_004341
- Peptide Label: isoform 1
- UniProtKB: P27708 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712164   ⟸   XM_006712101
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001293008   ⟸   NM_001306079
- Peptide Label: isoform 2
- UniProtKB: P27708 (UniProtKB/Swiss-Prot),   F8VPD4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308899   ⟸   XM_024453131
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000405416   ⟸   ENST00000428460
RefSeq Acc Id: ENSP00000388740   ⟸   ENST00000456311
RefSeq Acc Id: ENSP00000384510   ⟸   ENST00000403525
RefSeq Acc Id: ENSP00000414742   ⟸   ENST00000458503
RefSeq Acc Id: ENSP00000264705   ⟸   ENST00000264705
Promoters
RGD ID:6859900
Promoter ID:EPDNEW_H3115
Type:initiation region
Name:CAD_1
Description:carbamoyl-phosphate synthetase 2, aspartate transcarbamylase,and dihydroorotase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3116  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,217,369 - 27,217,429EPDNEW
RGD ID:6859902
Promoter ID:EPDNEW_H3116
Type:initiation region
Name:CAD_2
Description:carbamoyl-phosphate synthetase 2, aspartate transcarbamylase,and dihydroorotase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3115  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38227,217,491 - 27,217,551EPDNEW
RGD ID:6796924
Promoter ID:HG_KWN:31922
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000214186,   UC010EYW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,293,589 - 27,294,089 (+)MPROMDB
RGD ID:6796919
Promoter ID:HG_KWN:31923
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000324973
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,302,191 - 27,302,691 (+)MPROMDB
RGD ID:6796917
Promoter ID:HG_KWN:31924
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000324971
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,302,916 - 27,303,416 (+)MPROMDB
RGD ID:6796920
Promoter ID:HG_KWN:31925
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000324974
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,308,726 - 27,309,226 (+)MPROMDB
RGD ID:6796922
Promoter ID:HG_KWN:31926
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000324975
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,310,056 - 27,310,617 (+)MPROMDB
RGD ID:6796921
Promoter ID:HG_KWN:31927
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:OTTHUMT00000324976
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,311,441 - 27,311,941 (+)MPROMDB
RGD ID:6796918
Promoter ID:HG_KWN:31928
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000324972,   OTTHUMT00000324977,   OTTHUMT00000324978
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,314,926 - 27,315,777 (+)MPROMDB
RGD ID:6796923
Promoter ID:HG_KWN:31929
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:OTTHUMT00000324979
Position:
Human AssemblyChrPosition (strand)Source
Build 36227,317,726 - 27,318,787 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004341.5(CAD):c.1402C>T (p.Arg468Cys) single nucleotide variant not provided [RCV000518935] Chr2:27225025 [GRCh38]
Chr2:27447893 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.5646G>A (p.Met1882Ile) single nucleotide variant not provided [RCV000519331] Chr2:27241065 [GRCh38]
Chr2:27463933 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.1830del (p.Asn611fs) deletion not provided [RCV000723126] Chr2:27225914 [GRCh38]
Chr2:27448782 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2870G>T (p.Gly957Val) single nucleotide variant not provided [RCV000722925] Chr2:27232672 [GRCh38]
Chr2:27455540 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.43C>T (p.Gln15Ter) single nucleotide variant not provided [RCV000722983] Chr2:27217594 [GRCh38]
Chr2:27440462 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.5394+2T>C single nucleotide variant not provided [RCV000722385] Chr2:27239473 [GRCh38]
Chr2:27462341 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.3884G>A (p.Arg1295His) single nucleotide variant not provided [RCV000722453] Chr2:27235342 [GRCh38]
Chr2:27458210 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.367_368delinsTT (p.Glu123Leu) indel not provided [RCV000722756] Chr2:27222208..27222209 [GRCh38]
Chr2:27445076..27445077 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2748C>G (p.Tyr916Ter) single nucleotide variant not provided [RCV000722887] Chr2:27232550 [GRCh38]
Chr2:27455418 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2773A>G (p.Thr925Ala) single nucleotide variant not provided [RCV000521118] Chr2:27232575 [GRCh38]
Chr2:27455443 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p23.3(chr2:25759602-27297636)x3 copy number gain See cases [RCV000052629] Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
Chr2:2p23.3
uncertain significance
NM_004341.3(CAD):c.683C>T (p.Ser228Phe) single nucleotide variant Malignant melanoma [RCV000065523] Chr2:27222911 [GRCh38]
Chr2:27445779 [GRCh37]
Chr2:27299283 [NCBI36]
Chr2:2p23.3
not provided
NM_004341.5(CAD):c.696C>T (p.Val232=) single nucleotide variant not provided [RCV000882308] Chr2:27222924 [GRCh38]
Chr2:27445792 [GRCh37]
Chr2:27299296 [NCBI36]
Chr2:2p23.3
likely benign|not provided
NM_001170795.1(ATRAID):c.671G>A (p.Arg224Gln) single nucleotide variant Malignant melanoma [RCV000060539] Chr2:27216929 [GRCh38]
Chr2:27439797 [GRCh37]
Chr2:27293301 [NCBI36]
Chr2:2p23.3
not provided
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000185621] Chr2:27242098 [GRCh38]
Chr2:27464966 [GRCh37]
Chr2:2p23.3
pathogenic
NM_004341.5(CAD):c.1843-1G>A single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000185620] Chr2:27226130 [GRCh38]
Chr2:27448998 [GRCh37]
Chr2:2p23.3
pathogenic
NM_004341.5(CAD):c.1730T>C (p.Leu577Pro) single nucleotide variant not provided [RCV000722286] Chr2:27225814 [GRCh38]
Chr2:27448682 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV001270832] Chr2:27234120 [GRCh38]
Chr2:27456988 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2617_2620del (p.Asp873fs) deletion not provided [RCV000490138] Chr2:27232194..27232197 [GRCh38]
Chr2:27455062..27455065 [GRCh37]
Chr2:2p23.3
pathogenic
NM_004341.5(CAD):c.3367G>A (p.Val1123Met) single nucleotide variant not provided [RCV000585384] Chr2:27233776 [GRCh38]
Chr2:27456644 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.6149G>A (p.Gly2050Glu) single nucleotide variant not provided [RCV000722563] Chr2:27242354 [GRCh38]
Chr2:27465222 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.3359A>T (p.Glu1120Val) single nucleotide variant not provided [RCV000722798] Chr2:27233768 [GRCh38]
Chr2:27456636 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.1843-3C>T single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000415584] Chr2:27226128 [GRCh38]
Chr2:27448996 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004341.5(CAD):c.3748G>A (p.Val1250Met) single nucleotide variant not provided [RCV000730242] Chr2:27234647 [GRCh38]
Chr2:27457515 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000415514] Chr2:27239442 [GRCh38]
Chr2:27462310 [GRCh37]
Chr2:2p23.3
pathogenic
NM_004341.5(CAD):c.98T>G (p.Met33Arg) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000415540]|not provided [RCV000520587] Chr2:27217892 [GRCh38]
Chr2:27440760 [GRCh37]
Chr2:2p23.3
pathogenic|likely pathogenic
NM_004341.5(CAD):c.1536C>T (p.Thr512=) single nucleotide variant not provided [RCV000729063] Chr2:27225159 [GRCh38]
Chr2:27448027 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.6343G>C (p.Val2115Leu) single nucleotide variant not provided [RCV000439766] Chr2:27242740 [GRCh38]
Chr2:27465608 [GRCh37]
Chr2:2p23.3
likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000986606]|not provided [RCV000485191] Chr2:27239731 [GRCh38]
Chr2:27462599 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) single nucleotide variant not provided [RCV000729064] Chr2:27239469 [GRCh38]
Chr2:27462337 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.5296_5308del (p.Phe1766fs) deletion not provided [RCV000494074] Chr2:27239369..27239381 [GRCh38]
Chr2:27462237..27462249 [GRCh37]
Chr2:2p23.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004341.5(CAD):c.2646-7A>G single nucleotide variant not provided [RCV000970599]|not specified [RCV000603992] Chr2:27232441 [GRCh38]
Chr2:27455309 [GRCh37]
Chr2:2p23.3
likely benign|conflicting interpretations of pathogenicity
NM_004341.5(CAD):c.178T>C (p.Tyr60His) single nucleotide variant not provided [RCV000585151] Chr2:27217972 [GRCh38]
Chr2:27440840 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2893-9C>T single nucleotide variant not provided [RCV000971208]|not specified [RCV000613015] Chr2:27233033 [GRCh38]
Chr2:27455901 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.6576-5T>G single nucleotide variant not specified [RCV000607683] Chr2:27243411 [GRCh38]
Chr2:27466279 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5823C>G (p.Phe1941Leu) single nucleotide variant not provided [RCV000513202] Chr2:27241336 [GRCh38]
Chr2:27464204 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.5958G>C (p.Arg1986=) single nucleotide variant not provided [RCV000513551] Chr2:27241985 [GRCh38]
Chr2:27464853 [GRCh37]
Chr2:2p23.3
likely benign|uncertain significance
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
NM_004341.5(CAD):c.739C>A (p.Pro247Thr) single nucleotide variant not provided [RCV000722604] Chr2:27222967 [GRCh38]
Chr2:27445835 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.812A>G (p.Tyr271Cys) single nucleotide variant not provided [RCV000722608] Chr2:27223565 [GRCh38]
Chr2:27446433 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004341.5(CAD):c.713G>A (p.Arg238His) single nucleotide variant not provided [RCV000893299] Chr2:27222941 [GRCh38]
Chr2:27445809 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3471T>C (p.Asn1157=) single nucleotide variant not provided [RCV000916139] Chr2:27234079 [GRCh38]
Chr2:27456947 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.2496C>T (p.Ile832=) single nucleotide variant not provided [RCV000895870] Chr2:27232075 [GRCh38]
Chr2:27454943 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1290G>T (p.Thr430=) single nucleotide variant not provided [RCV000914075] Chr2:27224780 [GRCh38]
Chr2:27447648 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1394G>A (p.Arg465His) single nucleotide variant not provided [RCV001090851] Chr2:27225017 [GRCh38]
Chr2:27447885 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.625C>G (p.Leu209Val) single nucleotide variant not provided [RCV000997095] Chr2:27222648 [GRCh38]
Chr2:27445516 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.4065T>C (p.His1355=) single nucleotide variant not provided [RCV000905961] Chr2:27235631 [GRCh38]
Chr2:27458499 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.1158C>T (p.Pro386=) single nucleotide variant not provided [RCV000900512] Chr2:27224394 [GRCh38]
Chr2:27447262 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4647C>T (p.Ala1549=) single nucleotide variant not provided [RCV000884169] Chr2:27237801 [GRCh38]
Chr2:27460669 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.6459C>T (p.Gly2153=) single nucleotide variant not provided [RCV000907002] Chr2:27242952 [GRCh38]
Chr2:27465820 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.346T>C (p.Leu116=) single nucleotide variant not provided [RCV000966140] Chr2:27221341 [GRCh38]
Chr2:27444209 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.2388A>C (p.Pro796=) single nucleotide variant not provided [RCV000928510] Chr2:27231568 [GRCh38]
Chr2:27454436 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1109-4A>G single nucleotide variant not provided [RCV000884942] Chr2:27224341 [GRCh38]
Chr2:27447209 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.2288-7C>T single nucleotide variant not provided [RCV000936474] Chr2:27231461 [GRCh38]
Chr2:27454329 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.2844C>T (p.Ser948=) single nucleotide variant not provided [RCV000882499] Chr2:27232646 [GRCh38]
Chr2:27455514 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3087G>T (p.Arg1029=) single nucleotide variant not provided [RCV000882500] Chr2:27233407 [GRCh38]
Chr2:27456275 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.525C>T (p.Ala175=) single nucleotide variant not provided [RCV000905704] Chr2:27222548 [GRCh38]
Chr2:27445416 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3400-7C>T single nucleotide variant not provided [RCV000921548] Chr2:27234001 [GRCh38]
Chr2:27456869 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.4932C>T (p.Phe1644=) single nucleotide variant not provided [RCV000904221] Chr2:27238502 [GRCh38]
Chr2:27461370 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.686A>G (p.Tyr229Cys) single nucleotide variant not provided [RCV000904304] Chr2:27222914 [GRCh38]
Chr2:27445782 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3162C>T (p.Leu1054=) single nucleotide variant not provided [RCV000881977] Chr2:27233482 [GRCh38]
Chr2:27456350 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.4578C>T (p.Gly1526=) single nucleotide variant not provided [RCV000899593] Chr2:27237732 [GRCh38]
Chr2:27460600 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.6576-4G>T single nucleotide variant not provided [RCV000901345] Chr2:27243412 [GRCh38]
Chr2:27466280 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1593G>A (p.Pro531=) single nucleotide variant not provided [RCV000903073] Chr2:27225216 [GRCh38]
Chr2:27448084 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.123T>C (p.Thr41=) single nucleotide variant not provided [RCV000946595] Chr2:27217917 [GRCh38]
Chr2:27440785 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.82+10C>T single nucleotide variant not provided [RCV000927246] Chr2:27217643 [GRCh38]
Chr2:27440511 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1254+9T>C single nucleotide variant not provided [RCV000900051] Chr2:27224499 [GRCh38]
Chr2:27447367 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.2497G>A (p.Asp833Asn) single nucleotide variant not provided [RCV000946596] Chr2:27232076 [GRCh38]
Chr2:27454944 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.4710C>T (p.Ser1570=) single nucleotide variant not provided [RCV000883635] Chr2:27237864 [GRCh38]
Chr2:27460732 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.6020T>C (p.Leu2007Pro) single nucleotide variant Intellectual disability [RCV001030800] Chr2:27242047 [GRCh38]
Chr2:27464915 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2079G>A (p.Leu693=) single nucleotide variant not provided [RCV000970817] Chr2:27226572 [GRCh38]
Chr2:27449440 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.4380G>A (p.Lys1460=) single nucleotide variant not provided [RCV000917237] Chr2:27236814 [GRCh38]
Chr2:27459682 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5362C>T (p.Leu1788=) single nucleotide variant not provided [RCV000908236] Chr2:27239439 [GRCh38]
Chr2:27462307 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3975A>G (p.Lys1325=) single nucleotide variant not provided [RCV000972580] Chr2:27235541 [GRCh38]
Chr2:27458409 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.2748C>T (p.Tyr916=) single nucleotide variant not provided [RCV000974003] Chr2:27232550 [GRCh38]
Chr2:27455418 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.6097-4C>A single nucleotide variant not provided [RCV000923699] Chr2:27242298 [GRCh38]
Chr2:27465166 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.141A>G (p.Ala47=) single nucleotide variant not provided [RCV000908674] Chr2:27217935 [GRCh38]
Chr2:27440803 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4230C>T (p.Thr1410=) single nucleotide variant not provided [RCV000908775] Chr2:27236439 [GRCh38]
Chr2:27459307 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5157C>T (p.Ser1719=) single nucleotide variant not provided [RCV000880075] Chr2:27239136 [GRCh38]
Chr2:27462004 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.6117G>A (p.Arg2039=) single nucleotide variant not provided [RCV000953655] Chr2:27242322 [GRCh38]
Chr2:27465190 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4702C>T (p.Leu1568=) single nucleotide variant not provided [RCV000903576] Chr2:27237856 [GRCh38]
Chr2:27460724 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000986605]|not provided [RCV000971209] Chr2:27238500 [GRCh38]
Chr2:27461368 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3541C>T (p.Arg1181Trp) single nucleotide variant not provided [RCV000882816] Chr2:27234149 [GRCh38]
Chr2:27457017 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5871C>T (p.Leu1957=) single nucleotide variant not provided [RCV000917634] Chr2:27241384 [GRCh38]
Chr2:27464252 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3426T>C (p.Ser1142=) single nucleotide variant not provided [RCV000916731] Chr2:27234034 [GRCh38]
Chr2:27456902 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3639T>C (p.Ile1213=) single nucleotide variant not provided [RCV000919215] Chr2:27234538 [GRCh38]
Chr2:27457406 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3897C>T (p.Tyr1299=) single nucleotide variant not provided [RCV000909786] Chr2:27235355 [GRCh38]
Chr2:27458223 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5058C>T (p.Asp1686=) single nucleotide variant not provided [RCV000954378] Chr2:27238628 [GRCh38]
Chr2:27461496 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.4850G>A (p.Arg1617Gln) single nucleotide variant not provided [RCV000810418] Chr2:27238177 [GRCh38]
Chr2:27461045 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.4179T>A (p.Ile1393=) single nucleotide variant not provided [RCV000914115] Chr2:27236388 [GRCh38]
Chr2:27459256 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV000986604] Chr2:27222594 [GRCh38]
Chr2:27445462 [GRCh37]
Chr2:2p23.3
pathogenic
NM_004341.5(CAD):c.2577G>A (p.Pro859=) single nucleotide variant not provided [RCV000976522] Chr2:27232156 [GRCh38]
Chr2:27455024 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.247G>C (p.Val83Leu) single nucleotide variant not provided [RCV000997093] Chr2:27221242 [GRCh38]
Chr2:27444110 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.1486C>T (p.Arg496Trp) single nucleotide variant not provided [RCV000997096] Chr2:27225109 [GRCh38]
Chr2:27447977 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.6001G>A (p.Val2001Ile) single nucleotide variant not provided [RCV000997098] Chr2:27242028 [GRCh38]
Chr2:27464896 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.5718C>A (p.Thr1906=) single nucleotide variant not provided [RCV000893202] Chr2:27241137 [GRCh38]
Chr2:27464005 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.83-3C>T single nucleotide variant not provided [RCV000893415] Chr2:27217874 [GRCh38]
Chr2:27440742 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4866G>A (p.Leu1622=) single nucleotide variant not provided [RCV000893580] Chr2:27238436 [GRCh38]
Chr2:27461304 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.5919C>T (p.Ser1973=) single nucleotide variant not provided [RCV000892825] Chr2:27241946 [GRCh38]
Chr2:27464814 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.495+7A>T single nucleotide variant not provided [RCV000997094] Chr2:27222343 [GRCh38]
Chr2:27445211 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.4954C>T (p.Arg1652Cys) single nucleotide variant not provided [RCV000997097] Chr2:27238524 [GRCh38]
Chr2:27461392 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.256C>T (p.Leu86=) single nucleotide variant not provided [RCV000929709] Chr2:27221251 [GRCh38]
Chr2:27444119 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.2868A>G (p.Val956=) single nucleotide variant not provided [RCV000933197] Chr2:27232670 [GRCh38]
Chr2:27455538 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1632C>T (p.Ala544=) single nucleotide variant not provided [RCV000907157] Chr2:27225716 [GRCh38]
Chr2:27448584 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.6285C>T (p.Thr2095=) single nucleotide variant not provided [RCV000886158] Chr2:27242682 [GRCh38]
Chr2:27465550 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3423C>T (p.Ala1141=) single nucleotide variant not provided [RCV000919604] Chr2:27234031 [GRCh38]
Chr2:27456899 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5727G>A (p.Leu1909=) single nucleotide variant not provided [RCV000914671] Chr2:27241146 [GRCh38]
Chr2:27464014 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3012G>A (p.Glu1004=) single nucleotide variant not provided [RCV000914982] Chr2:27233332 [GRCh38]
Chr2:27456200 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.129C>T (p.Pro43=) single nucleotide variant not provided [RCV000917133] Chr2:27217923 [GRCh38]
Chr2:27440791 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3132G>A (p.Ser1044=) single nucleotide variant not provided [RCV000931247] Chr2:27233452 [GRCh38]
Chr2:27456320 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.435T>G (p.Pro145=) single nucleotide variant not provided [RCV000955284] Chr2:27222276 [GRCh38]
Chr2:27445144 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1139C>A (p.Pro380His) single nucleotide variant not provided [RCV000953236] Chr2:27224375 [GRCh38]
Chr2:27447243 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1551C>G (p.Ala517=) single nucleotide variant not provided [RCV000953237] Chr2:27225174 [GRCh38]
Chr2:27448042 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1620+10G>T single nucleotide variant not provided [RCV000953238] Chr2:27225253 [GRCh38]
Chr2:27448121 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4596G>A (p.Ala1532=) single nucleotide variant not provided [RCV000968538] Chr2:27237750 [GRCh38]
Chr2:27460618 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.4902G>A (p.Val1634=) single nucleotide variant not provided [RCV000968539] Chr2:27238472 [GRCh38]
Chr2:27461340 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.1083A>G (p.Thr361=) single nucleotide variant not provided [RCV000886946] Chr2:27224004 [GRCh38]
Chr2:27446872 [GRCh37]
Chr2:2p23.3
benign|likely benign
NM_004341.5(CAD):c.6102C>T (p.Ala2034=) single nucleotide variant not provided [RCV000909494] Chr2:27242307 [GRCh38]
Chr2:27465175 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.2576C>T (p.Pro859Leu) single nucleotide variant not provided [RCV000960828] Chr2:27232155 [GRCh38]
Chr2:27455023 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3810C>T (p.Arg1270=) single nucleotide variant not provided [RCV000902150] Chr2:27235268 [GRCh38]
Chr2:27458136 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.1071G>A (p.Val357=) single nucleotide variant not provided [RCV000908235] Chr2:27223992 [GRCh38]
Chr2:27446860 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3186G>A (p.Gln1062=) single nucleotide variant not provided [RCV000907597] Chr2:27233506 [GRCh38]
Chr2:27456374 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.5394+8A>G single nucleotide variant not provided [RCV000961393] Chr2:27239479 [GRCh38]
Chr2:27462347 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.6054C>T (p.Ala2018=) single nucleotide variant not provided [RCV000933782] Chr2:27242081 [GRCh38]
Chr2:27464949 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5593+8T>A single nucleotide variant not provided [RCV000890379] Chr2:27240369 [GRCh38]
Chr2:27463237 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3537G>A (p.Leu1179=) single nucleotide variant not provided [RCV000889362] Chr2:27234145 [GRCh38]
Chr2:27457013 [GRCh37]
Chr2:2p23.3
benign
NM_004341.5(CAD):c.400C>T (p.Leu134=) single nucleotide variant not provided [RCV000911359] Chr2:27222241 [GRCh38]
Chr2:27445109 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.933C>T (p.Leu311=) single nucleotide variant not provided [RCV000935129] Chr2:27223686 [GRCh38]
Chr2:27446554 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.4587C>T (p.Cys1529=) single nucleotide variant not provided [RCV000913956] Chr2:27237741 [GRCh38]
Chr2:27460609 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5232G>A (p.Pro1744=) single nucleotide variant not provided [RCV000913983] Chr2:27239211 [GRCh38]
Chr2:27462079 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5979C>T (p.Ser1993=) single nucleotide variant not provided [RCV000911626] Chr2:27242006 [GRCh38]
Chr2:27464874 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.246C>T (p.His82=) single nucleotide variant not provided [RCV000912760] Chr2:27221241 [GRCh38]
Chr2:27444109 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.3400-5G>A single nucleotide variant not provided [RCV000912687] Chr2:27234003 [GRCh38]
Chr2:27456871 [GRCh37]
Chr2:2p23.3
likely benign
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) deletion Epileptic encephalopathy, early infantile, 50 [RCV001196647] Chr2:27240313..27240314 [GRCh38]
Chr2:27463181..27463182 [GRCh37]
Chr2:2p23.3
pathogenic
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr) single nucleotide variant not provided [RCV001234150] Chr2:27238087 [GRCh38]
Chr2:27460955 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.6365G>A (p.Arg2122His) single nucleotide variant not provided [RCV001234151] Chr2:27242762 [GRCh38]
Chr2:27465630 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.1068_1069TG[1] (p.Val357fs) microsatellite not provided [RCV001008909] Chr2:27223989..27223990 [GRCh38]
Chr2:27446857..27446858 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter) single nucleotide variant not provided [RCV001254807] Chr2:27238137 [GRCh38]
Chr2:27461005 [GRCh37]
Chr2:2p23.3
likely pathogenic
NM_004341.5(CAD):c.4735G>A (p.Glu1579Lys) single nucleotide variant Inborn genetic diseases [RCV001267173] Chr2:27238062 [GRCh38]
Chr2:27460930 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2386C>A (p.Pro796Thr) single nucleotide variant Inborn genetic diseases [RCV001267172] Chr2:27231566 [GRCh38]
Chr2:27454434 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.2684G>T (p.Gly895Val) single nucleotide variant Seizures [RCV001281463] Chr2:27232486 [GRCh38]
Chr2:27455354 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_004341.5(CAD):c.4315-1G>A single nucleotide variant Epileptic encephalopathy, early infantile, 50 [RCV001270833] Chr2:27236748 [GRCh38]
Chr2:27459616 [GRCh37]
Chr2:2p23.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1424 AgrOrtholog
COSMIC CAD COSMIC
Ensembl Genes ENSG00000084774 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264705 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384510 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000388740 UniProtKB/TrEMBL
  ENSP00000405416 UniProtKB/TrEMBL
  ENSP00000414742 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264705 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000403525 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000428460 UniProtKB/TrEMBL
  ENST00000456311 UniProtKB/TrEMBL
  ENST00000458503 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1030.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1490.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1380 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.50.30.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000084774 GTEx
HGNC ID HGNC:1424 ENTREZGENE
Human Proteome Map CAD Human Proteome Map
InterPro Amidohydro-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Orn_carbamoyltranf_P-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Orn_carbamoylTrfase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp/Orn_carbamoylTrfase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp_carbamoyltransf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Asp_carbamoyltransf_Asp/Orn-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-grasp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP_grasp_subdomain_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbamoylP_synth_lsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbamoylP_synth_lsu_oligo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbamoylP_synth_lsu_oligo_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbamoylP_synth_ssu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbamoylP_synth_ssu_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CarbP_synth_ssu_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CbamoylP_synth_lsu-like_ATP-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CbamoylP_synth_lsu_CPSase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Class_I_gatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_GATase1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Dihydroorotase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal-dep_hydrolase_composite UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Metal_Hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PreATP-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:790 UniProtKB/Swiss-Prot
NCBI Gene 790 ENTREZGENE
OMIM 114010 OMIM
  616457 OMIM
PANTHER PTHR11405:SF16 UniProtKB/TrEMBL
Pfam Amidohydro_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_L_D2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_L_D3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_sm_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OTCace UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OTCace_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26023 PharmGKB
PRINTS AOTCASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ATP_GRASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CARBAMOYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIHYDROOROTASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DIHYDROOROTASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATASE_TYPE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CPSase_L_D3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSase_sm_chain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48108 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51338 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51556 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52317 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52335 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53671 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs asp_carb_tr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSaseII_lrg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CPSaseIIsmall UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F8VPD4 ENTREZGENE, UniProtKB/TrEMBL
  G1UI39_HUMAN UniProtKB/TrEMBL
  H7BZB3_HUMAN UniProtKB/TrEMBL
  H7C2E4_HUMAN UniProtKB/TrEMBL
  H7C3Z5_HUMAN UniProtKB/TrEMBL
  P27708 ENTREZGENE, UniProtKB/Swiss-Prot
  Q53SY7_HUMAN UniProtKB/TrEMBL
  Q53SZ4_HUMAN UniProtKB/TrEMBL
UniProt Secondary D6W552 UniProtKB/Swiss-Prot
  Q6P0Q0 UniProtKB/Swiss-Prot
  Q96CK3 UniProtKB/Swiss-Prot