CCDC201 (coiled-coil domain containing 201) - Rat Genome Database

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Gene: CCDC201 (coiled-coil domain containing 201) Homo sapiens
Analyze
Symbol: CCDC201
Name: coiled-coil domain containing 201
RGD ID: 14394821
HGNC Page HGNC:54081
Description: ASSOCIATED WITH primary ovarian insufficiency; INTERACTS WITH 2,3',4,4',5-Pentachlorobiphenyl (ortholog); chlorpyrifos (ortholog); epoxiconazole (ortholog)
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: coiled-coil domain-containing protein 201
RGD Orthologs
Mouse
Bonobo
Pig
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38745,859,994 - 45,885,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl745,859,994 - 45,873,082 (-)EnsemblGRCh38hg38GRCh38
GRCh37745,899,593 - 45,912,681 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p12.3NCBI
T2T-CHM13v2.0746,021,709 - 46,046,887 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CCDC201Humanprimary ovarian insufficiency  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:39192094


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CCDC201Human2,3',4,4',5-Pentachlorobiphenyl increases expressionISOCcdc201 (Mus musculus)64804642 more ...CTDPMID:31388691
CCDC201Humanchlorpyrifos increases expressionISOCcdc201 (Mus musculus)6480464Chlorpyrifos results in increased expression of CCDC201 mRNACTDPMID:37019170
CCDC201Humanepoxiconazole increases expressionISOCcdc201 (Mus musculus)6480464epoxiconazole results in increased expression of CCDC201 mRNACTDPMID:35436446

PMID:39192094  



CCDC201
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38745,859,994 - 45,885,172 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl745,859,994 - 45,873,082 (-)EnsemblGRCh38hg38GRCh38
GRCh37745,899,593 - 45,912,681 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p12.3NCBI
T2T-CHM13v2.0746,021,709 - 46,046,887 (-)NCBIT2T-CHM13v2.0
Ccdc201
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39117,133,157 - 7,138,569 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl117,133,153 - 7,138,569 (-)EnsemblGRCm39 Ensembl
GRCm38117,183,157 - 7,188,569 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl117,183,153 - 7,188,569 (-)EnsemblGRCm38mm10GRCm38
MGSCv37117,083,160 - 7,086,381 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36117,083,160 - 7,086,443 (-)NCBIMGSCv36mm8
Celera117,658,378 - 7,661,599 (-)NCBICelera
Cytogenetic Map11A1NCBI
cM Map114.75NCBI
CCDC201
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2650,745,157 - 50,758,245 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1799,069,895 - 99,082,983 (-)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl746,632,628 - 46,642,537 (-)Ensemblpanpan1.1panPan2
LOC106506856
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1850,034,031 - 50,042,971 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11850,033,973 - 50,042,961 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21854,881,880 - 54,886,877 (+)NCBISscrofa10.2Sscrofa10.2susScr3

.

1 to 9 of 9 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1 copy number loss See cases [RCV000136092] Chr7:40534157..56107122 [GRCh38]
Chr7:40573756..56174815 [GRCh37]
Chr7:40540281..56142309 [NCBI36]
Chr7:7p14.1-11.2		 pathogenic
GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3 copy number gain See cases [RCV000053532] Chr7:33328312..62377476 [GRCh38]
Chr7:33367924..61831899 [GRCh37]
Chr7:33334449..61469334 [NCBI36]
Chr7:7p14.3-q11.21		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p13-12.3(chr7:44193369-46558381)x1 copy number loss See cases [RCV000052316] Chr7:44193369..46558381 [GRCh38]
Chr7:44232968..46597979 [GRCh37]
Chr7:44199493..46564504 [NCBI36]
Chr7:7p13-12.3		 pathogenic
GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1 copy number loss See cases [RCV000137139] Chr7:37303478..48660738 [GRCh38]
Chr7:37343082..48700334 [GRCh37]
Chr7:37309607..48670880 [NCBI36]
Chr7:7p14.1-12.3		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1 copy number loss See cases [RCV000134973] Chr7:44571949..53699760 [GRCh38]
Chr7:44611548..53767453 [GRCh37]
Chr7:44578073..53734947 [NCBI36]
Chr7:7p13-12.1		 pathogenic
NC_000007.14:g.45043702_46521017delins[AGAAGGAAATTT;45310743_46521014;45043709_45310738inv] indel Cerebral cavernous malformation 2 [RCV003988183] Chr7:45043702..46521017 [GRCh38]
Chr7:7p13-12.3		 pathogenic
GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1 copy number loss See cases [RCV000136904] Chr7:40020598..50543500 [GRCh38]
Chr7:40060197..50611198 [GRCh37]
Chr7:40026722..50578692 [NCBI36]
Chr7:7p14.1-12.1		 pathogenic
1 to 9 of 9 rows

The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
1558711BP56_HBlood pressure QTL 56 (human)2.240.000002Blood pressuresystolic73634937162349371Human
407040424GWAS689400_Hrheumatoid arthritis QTL GWAS689400 (human)0.0000005rheumatoid arthritis74586420845864209Human
1559132SAPOB3_HSerum apolipoprotein B level QTL 3 (human)20.4Apolipoprotein levelapolipoprotein B73289107458891074Human
2302781MAMTS16_HMammary tumor susceptibility QTL 16 (human)0.033Mammary tumor susceptibility73634937162349371Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
sensory system
153 159 245 210 765 204 235 69 121 62 198 593 606 676 55 516 139 7



Ensembl Acc Id: ENST00000636578   ⟹   ENSP00000489712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl745,859,994 - 45,873,082 (-)Ensembl
RefSeq Acc Id: NM_001395235   ⟹   NP_001382164
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,859,994 - 45,873,082 (-)NCBI
T2T-CHM13v2.0746,021,709 - 46,034,799 (-)NCBI
RefSeq Acc Id: XM_047419863   ⟹   XP_047275819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38745,861,062 - 45,885,172 (-)NCBI
RefSeq Acc Id: XM_054357202   ⟹   XP_054213177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0746,022,777 - 46,046,887 (-)NCBI
Protein RefSeqs NP_001382164 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275819 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213177 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1B0GTI1 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000489712
  ENSP00000489712.1
Ensembl Acc Id: ENSP00000489712   ⟸   ENST00000636578
RefSeq Acc Id: NP_001382164   ⟸   NM_001395235
- UniProtKB: A0A1B0GTI1 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047275819   ⟸   XM_047419863
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054213177   ⟸   XM_054357202
- Peptide Label: isoform X1

Name Modeler Protein Id AA Range Protein Structure
AF-A0A1B0GTI1-F1-model_v2 AlphaFold A0A1B0GTI1 1-187 view protein structure



1 to 10 of 10 rows
Database
Acc Id
Source(s)
COSMIC CCDC201 COSMIC
Ensembl Genes ENSG00000283247 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000636578 ENTREZGENE
  ENST00000636578.2 UniProtKB/Swiss-Prot
GTEx ENSG00000283247 GTEx
HGNC ID HGNC:54081 ENTREZGENE
Human Proteome Map CCDC201 Human Proteome Map
NCBI Gene CCDC201 ENTREZGENE
PharmGKB PA166182666 PharmGKB
UniProt A0A1B0GTI1 ENTREZGENE, UniProtKB/Swiss-Prot
1 to 10 of 10 rows