CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase) - Rat Genome Database

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Gene: CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase) Homo sapiens
Analyze
Symbol: CMAS
Name: cytidine monophosphate N-acetylneuraminic acid synthetase
RGD ID: 1322088
HGNC Page HGNC
Description: Predicted to have N-acylneuraminate cytidylyltransferase activity. Predicted to be involved in N-acetylneuraminate metabolic process. Localizes to membrane and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMP-N-acetylneuraminic acid synthase; CMP-N-acetylneuraminic acid synthetase; CMP-Neu5Ac synthetase; CMP-NeuNAc synthase; CMP-NeuNAc synthetase; CMP-sialic acid synthetase; CSS; cytidine 5'-monophosphate N-acetylneuraminic acid synthetase; N-acylneuraminate cytidylyltransferase
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 Ensembl1222,046,218 - 22,065,674 (+)EnsemblGRCh38hg38GRCh38
GRCh381222,046,218 - 22,065,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371222,199,152 - 22,218,602 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361222,090,426 - 22,109,869 (+)NCBINCBI36hg18NCBI36
Build 341222,090,425 - 22,109,869NCBI
Celera1227,353,627 - 27,373,064 (+)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1221,972,423 - 21,991,850 (+)NCBIHuRef
CHM1_11222,164,047 - 22,183,534 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (HDA)
nucleoplasm  (TAS)
nucleus  (HDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7566098   PMID:8125298   PMID:8889548   PMID:8889549   PMID:9689047   PMID:11546777   PMID:11602804   PMID:11893746   PMID:12136098   PMID:12477932   PMID:14702039   PMID:15489334  
PMID:16344560   PMID:19666032   PMID:19946888   PMID:19965467   PMID:21116278   PMID:21630459   PMID:21832049   PMID:21873635   PMID:22268729   PMID:24981860   PMID:25184681   PMID:25281560  
PMID:26170170   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26885983   PMID:27357083   PMID:27634302   PMID:27684187   PMID:28514442   PMID:28533407   PMID:29331416   PMID:29467282  
PMID:29509190   PMID:29540532   PMID:29568061   PMID:29844126   PMID:29845934   PMID:29955894   PMID:30021884   PMID:30033366   PMID:30804502   PMID:31495922   PMID:31527615   PMID:31685992  
PMID:31753913   PMID:32322062   PMID:32416067   PMID:32838362   PMID:32877691   PMID:33957083  


Genomics

Comparative Map Data
CMAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1222,046,218 - 22,065,674 (+)EnsemblGRCh38hg38GRCh38
GRCh381222,046,218 - 22,065,668 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371222,199,152 - 22,218,602 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361222,090,426 - 22,109,869 (+)NCBINCBI36hg18NCBI36
Build 341222,090,425 - 22,109,869NCBI
Celera1227,353,627 - 27,373,064 (+)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1221,972,423 - 21,991,850 (+)NCBIHuRef
CHM1_11222,164,047 - 22,183,534 (+)NCBICHM1_1
Cmas
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396142,702,412 - 142,721,440 (+)NCBIGRCm39mm39
GRCm39 Ensembl6142,702,412 - 142,721,440 (+)Ensembl
GRCm386142,756,686 - 142,775,714 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6142,756,686 - 142,775,714 (+)EnsemblGRCm38mm10GRCm38
MGSCv376142,705,206 - 142,724,234 (+)NCBIGRCm37mm9NCBIm37
MGSCv366142,713,995 - 142,732,930 (+)NCBImm8
Celera6145,818,239 - 145,837,265 (+)NCBICelera
Cytogenetic Map6G2NCBI
cM Map674.66NCBI
Cmas
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24175,718,808 - 175,737,128 (+)NCBI
Rnor_6.0 Ensembl4176,994,129 - 177,012,444 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04176,994,129 - 177,012,445 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04241,203,361 - 241,221,676 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44180,650,927 - 180,669,243 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14180,896,050 - 180,914,366 (+)NCBI
Celera4164,249,097 - 164,267,377 (+)NCBICelera
Cytogenetic Map4q44NCBI
Cmas
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541317,575,469 - 17,599,859 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541317,575,469 - 17,596,379 (+)NCBIChiLan1.0ChiLan1.0
CMAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11266,838,670 - 66,857,774 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1266,838,670 - 66,857,774 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01264,234,241 - 64,253,306 (-)NCBIMhudiblu_PPA_v0panPan3
CMAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12725,097,907 - 25,117,003 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2725,098,091 - 25,116,965 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2721,243,508 - 21,262,605 (+)NCBI
ROS_Cfam_1.02725,317,491 - 25,336,605 (-)NCBI
UMICH_Zoey_3.12725,116,424 - 25,135,532 (-)NCBI
UNSW_CanFamBas_1.02725,139,768 - 25,158,852 (-)NCBI
UU_Cfam_GSD_1.02721,412,861 - 21,431,958 (+)NCBI
Cmas
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494586,955,025 - 86,972,811 (-)NCBI
SpeTri2.0NW_0049365484,877,753 - 4,895,768 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CMAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl551,438,019 - 51,459,338 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1551,438,175 - 51,458,531 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2554,719,668 - 54,740,011 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CMAS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11121,896,607 - 21,919,211 (+)NCBI
ChlSab1.1 Ensembl1121,896,630 - 21,915,657 (+)Ensembl
Vero_WHO_p1.0NW_02366606913,226,303 - 13,245,314 (-)NCBI
Cmas
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475216,712,878 - 16,731,937 (-)NCBI

Position Markers
G62289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371222,203,246 - 22,203,439UniSTSGRCh37
GRCh371222,203,246 - 22,203,413UniSTSGRCh37
Build 361222,094,513 - 22,094,680RGDNCBI36
Celera1227,357,713 - 27,357,880RGD
Celera1227,357,713 - 27,357,906UniSTS
Cytogenetic Map12p12.1UniSTS
HuRef1221,976,558 - 21,976,725UniSTS
HuRef1221,976,558 - 21,976,751UniSTS
CMAS_4595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371222,218,225 - 22,218,757UniSTSGRCh37
Build 361222,109,492 - 22,110,024RGDNCBI36
Celera1227,372,687 - 27,373,219RGD
HuRef1221,991,467 - 21,991,999UniSTS
STS-W85899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371222,218,372 - 22,218,567UniSTSGRCh37
Build 361222,109,639 - 22,109,834RGDNCBI36
Celera1227,372,834 - 27,373,029RGD
Cytogenetic Map12p12.1UniSTS
HuRef1221,991,614 - 21,991,809UniSTS
GeneMap99-GB4 RH Map1283.14UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:782
Count of miRNA genes:457
Interacting mature miRNAs:500
Transcripts:ENST00000229329, ENST00000534981, ENST00000535610, ENST00000537658, ENST00000538498
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 2433 2382 1717 618 1455 460 4355 2085 3663 411 1446 1605 171 1204 2788 4
Low 6 608 9 5 496 5 1 111 71 8 14 8 4 1 2 1
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000229329   ⟹   ENSP00000229329
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1222,046,218 - 22,065,668 (+)Ensembl
RefSeq Acc Id: ENST00000534981   ⟹   ENSP00000446239
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1222,046,225 - 22,065,674 (+)Ensembl
RefSeq Acc Id: ENST00000535610   ⟹   ENSP00000439404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1222,046,287 - 22,062,434 (+)Ensembl
RefSeq Acc Id: ENST00000537658
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1222,060,642 - 22,062,413 (+)Ensembl
RefSeq Acc Id: ENST00000538498   ⟹   ENSP00000440605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1222,055,119 - 22,060,906 (+)Ensembl
RefSeq Acc Id: NM_018686   ⟹   NP_061156
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,046,218 - 22,065,668 (+)NCBI
GRCh371222,199,108 - 22,218,608 (+)NCBI
Build 361222,090,426 - 22,109,869 (+)NCBI Archive
Celera1227,353,627 - 27,373,064 (+)RGD
HuRef1221,972,423 - 21,991,850 (+)NCBI
CHM1_11222,164,045 - 22,183,534 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135117
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,046,218 - 22,065,668 (+)NCBI
CHM1_11222,164,045 - 22,183,534 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061156   ⟸   NM_018686
- UniProtKB: Q8NFW8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000229329   ⟸   ENST00000229329
RefSeq Acc Id: ENSP00000446239   ⟸   ENST00000534981
RefSeq Acc Id: ENSP00000439404   ⟸   ENST00000535610
RefSeq Acc Id: ENSP00000440605   ⟸   ENST00000538498

Promoters
RGD ID:7223423
Promoter ID:EPDNEW_H17457
Type:initiation region
Name:CMAS_1
Description:cytidine monophosphate N-acetylneuraminic acid synthetase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381222,046,218 - 22,046,278EPDNEW
RGD ID:6789874
Promoter ID:HG_KWN:15195
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_018686,   UC001RFN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361222,090,304 - 22,090,804 (+)MPROMDB
RGD ID:6852170
Promoter ID:EP73891
Type:initiation region
Name:HS_CMAS
Description:Cytidine monophosphate N-acetylneuraminic acid synthetase.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361222,090,476 - 22,090,536EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23
pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
NM_018686.4(CMAS):c.1161T>G (p.Ser387Arg) single nucleotide variant Malignant melanoma [RCV000062476] Chr12:22065167 [GRCh38]
Chr12:22218101 [GRCh37]
Chr12:22109368 [NCBI36]
Chr12:12p12.1
not provided
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1
likely pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 copy number gain See cases [RCV000448036] Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1
likely pathogenic
GRCh37/hg19 12p12.1(chr12:22208422-22235024)x3 copy number gain See cases [RCV000448202] Chr12:22208422..22235024 [GRCh37]
Chr12:12p12.1
benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_018686.6(CMAS):c.1114+7_1114+9dup duplication not provided [RCV000960374] Chr12:22062440..22062441 [GRCh38]
Chr12:22215374..22215375 [GRCh37]
Chr12:12p12.1
benign
NM_018686.6(CMAS):c.1209C>T (p.Tyr403=) single nucleotide variant not provided [RCV000973253] Chr12:22065215 [GRCh38]
Chr12:22218149 [GRCh37]
Chr12:12p12.1
benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p12.3-11.23(chr12:16141429-27733325)x1 copy number loss not provided [RCV000849815] Chr12:16141429..27733325 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p12.3-12.1(chr12:19762818-22659824)x1 copy number loss not provided [RCV000846444] Chr12:19762818..22659824 [GRCh37]
Chr12:12p12.3-12.1
uncertain significance
NM_018686.6(CMAS):c.78G>A (p.Lys26=) single nucleotide variant not provided [RCV000959260] Chr12:22046381 [GRCh38]
Chr12:22199315 [GRCh37]
Chr12:12p12.1
benign
GRCh37/hg19 12p12.1(chr12:21582333-24920271)x1 copy number loss not provided [RCV001258515] Chr12:21582333..24920271 [GRCh37]
Chr12:12p12.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18290 AgrOrtholog
COSMIC CMAS COSMIC
Ensembl Genes ENSG00000111726 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000229329 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439404 UniProtKB/TrEMBL
  ENSP00000440605 UniProtKB/TrEMBL
  ENSP00000446239 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000229329 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000534981 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535610 UniProtKB/TrEMBL
  ENST00000538498 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1000 UniProtKB/Swiss-Prot
  3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000111726 GTEx
HGNC ID HGNC:18290 ENTREZGENE
Human Proteome Map CMAS Human Proteome Map
InterPro Cytidylyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-like_sf UniProtKB/Swiss-Prot
  HAD_sf UniProtKB/Swiss-Prot
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55907 UniProtKB/Swiss-Prot
NCBI Gene 55907 ENTREZGENE
OMIM 603316 OMIM
Pfam CTP_transf_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38519 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56784 UniProtKB/Swiss-Prot
UniProt F5GYM0_HUMAN UniProtKB/TrEMBL
  F5H296_HUMAN UniProtKB/TrEMBL
  NEUA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96AX5 UniProtKB/Swiss-Prot
  Q9NQZ0 UniProtKB/Swiss-Prot