CCP110 (centriolar coiled-coil protein 110) - Rat Genome Database

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Gene: CCP110 (centriolar coiled-coil protein 110) Homo sapiens
Analyze
Symbol: CCP110
Name: centriolar coiled-coil protein 110
RGD ID: 1605415
HGNC Page HGNC:24342
Description: Involved in centriole replication; negative regulation of cilium assembly; and regulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: centriolar coiled coil protein 110kDa; centriolar coiled-coil protein 110kDa; centriolar coiled-coil protein of 110 kDa; centrosomal protein CP110; centrosomal protein of 110 kDa; Cep110; CP110; DKFZp781G1416; KIAA0419
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh381619,523,942 - 19,553,408 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1619,523,811 - 19,553,408 (+)EnsemblGRCh38hg38GRCh38
GRCh371619,535,264 - 19,564,730 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361619,442,709 - 19,472,231 (+)NCBINCBI36Build 36hg18NCBI36
Celera1618,684,185 - 18,713,728 (+)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1618,072,098 - 18,101,330 (+)NCBIHuRef
CHM1_11619,622,433 - 19,651,971 (+)NCBICHM1_1
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7790358   PMID:9455477   PMID:10493829   PMID:11076968   PMID:12221128   PMID:12361598   PMID:12477932   PMID:12852856   PMID:14654843   PMID:15146197   PMID:15342556   PMID:15489334  
PMID:16244668   PMID:16275750   PMID:16344560   PMID:16368877   PMID:16462731   PMID:16760425   PMID:16964243   PMID:17681131   PMID:17719545   PMID:17765674   PMID:18694559   PMID:19322201  
PMID:19460342   PMID:19481458   PMID:20596027   PMID:21145461   PMID:21399614   PMID:21620453   PMID:21873635   PMID:21982113   PMID:22261722   PMID:22441691   PMID:22632967   PMID:22658674  
PMID:22684256   PMID:23486064   PMID:23602568   PMID:24255178   PMID:24421332   PMID:24613305   PMID:24981860   PMID:25201258   PMID:25281560   PMID:25753040   PMID:25808870   PMID:25921289  
PMID:26186194   PMID:26304236   PMID:26487539   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26918338   PMID:26972000   PMID:27173435   PMID:27634302   PMID:28242748   PMID:28242791  
PMID:28514442   PMID:28562169   PMID:29395067   PMID:29440264   PMID:29560723   PMID:29568061   PMID:29845934   PMID:30021884   PMID:30194290   PMID:30254149   PMID:30375385   PMID:31091453  
PMID:31462741   PMID:31871319   PMID:31980649   PMID:32747192   PMID:33060197   PMID:33491601   PMID:33961781   PMID:34079125   PMID:34259627   PMID:34316702   PMID:34672954   PMID:34813648  
PMID:35271311   PMID:35439318   PMID:35709258   PMID:35813202   PMID:35944360   PMID:36114006   PMID:36243803   PMID:36538041   PMID:36674791   PMID:36779422   PMID:36931259   PMID:37074924  
PMID:37226238   PMID:37689310   PMID:37827155   PMID:38334954   PMID:38415788   PMID:38580884  


Genomics

Comparative Map Data
CCP110
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381619,523,942 - 19,553,408 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1619,523,811 - 19,553,408 (+)EnsemblGRCh38hg38GRCh38
GRCh371619,535,264 - 19,564,730 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361619,442,709 - 19,472,231 (+)NCBINCBI36Build 36hg18NCBI36
Celera1618,684,185 - 18,713,728 (+)NCBICelera
Cytogenetic Map16p12.3NCBI
HuRef1618,072,098 - 18,101,330 (+)NCBIHuRef
CHM1_11619,622,433 - 19,651,971 (+)NCBICHM1_1
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBIT2T-CHM13v2.0
Ccp110
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397118,311,740 - 118,336,247 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7118,311,775 - 118,336,247 (+)EnsemblGRCm39 Ensembl
GRCm387118,712,515 - 118,737,024 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7118,712,552 - 118,737,024 (+)EnsemblGRCm38mm10GRCm38
MGSCv377125,856,125 - 125,880,533 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367118,503,760 - 118,528,168 (+)NCBIMGSCv36mm8
Celera7118,650,794 - 118,675,513 (+)NCBICelera
Cytogenetic Map7F2NCBI
cM Map763.58NCBI
Ccp110
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81182,475,571 - 182,504,235 (+)NCBIGRCr8
mRatBN7.21173,042,238 - 173,072,873 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1173,042,310 - 173,072,873 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1181,355,014 - 181,382,767 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01188,541,119 - 188,568,873 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01181,271,299 - 181,299,190 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01188,417,012 - 188,444,991 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1188,420,461 - 188,444,991 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01195,361,581 - 195,387,930 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41176,932,477 - 176,961,863 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11177,076,532 - 177,097,062 (+)NCBI
Celera1170,809,711 - 170,837,307 (+)NCBICelera
Cytogenetic Map1q35NCBI
Ccp110
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554423,227,990 - 3,260,776 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554423,223,549 - 3,261,437 (+)NCBIChiLan1.0ChiLan1.0
CCP110
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21820,788,296 - 20,818,208 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11625,309,627 - 25,339,543 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01618,758,333 - 18,787,920 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11619,624,708 - 19,654,131 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1619,624,754 - 19,654,123 (+)Ensemblpanpan1.1panPan2
CCP110
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1625,713,100 - 25,738,854 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl625,594,813 - 25,738,776 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha627,075,292 - 27,101,634 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0625,867,359 - 25,893,912 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl625,867,363 - 25,894,312 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1625,667,400 - 25,693,940 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0625,562,687 - 25,588,996 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0625,951,507 - 25,978,065 (-)NCBIUU_Cfam_GSD_1.0
Ccp110
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344117,097,280 - 117,122,514 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365015,199,055 - 5,221,624 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365015,195,168 - 5,221,166 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCP110
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl326,160,196 - 26,188,057 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1326,160,195 - 26,188,092 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2326,876,447 - 26,904,217 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCP110
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1517,804,711 - 17,834,744 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl517,804,751 - 17,835,890 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606812,096,167 - 12,126,294 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccp110
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247822,876,478 - 2,898,471 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247822,871,568 - 2,898,193 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCP110
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 copy number gain See cases [RCV000051828] Chr16:14954894..28306843 [GRCh38]
Chr16:15048751..28318164 [GRCh37]
Chr16:14956252..28225665 [NCBI36]
Chr16:16p13.11-12.1		 pathogenic
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p12.3(chr16:19083339-19586433)x4 copy number gain Breast ductal adenocarcinoma [RCV000207106] Chr16:19083339..19586433 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 copy number gain See cases [RCV000449403] Chr16:19424115..30142220 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001323572.2(CCP110):c.512C>T (p.Pro171Leu) single nucleotide variant not provided [RCV004715178]|not specified [RCV000454470] Chr16:19536181 [GRCh38]
Chr16:19547503 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.1299G>A (p.Ala433=) single nucleotide variant not provided [RCV004715181]|not specified [RCV000454623] Chr16:19536968 [GRCh38]
Chr16:19548290 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.1749A>G (p.Lys583=) single nucleotide variant not provided [RCV004715182]|not specified [RCV000455069] Chr16:19537418 [GRCh38]
Chr16:19548740 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.756C>G (p.Ile252Met) single nucleotide variant not provided [RCV004715179]|not specified [RCV000455139] Chr16:19536425 [GRCh38]
Chr16:19547747 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.366A>G (p.Thr122=) single nucleotide variant not provided [RCV004716466]|not specified [RCV000455564] Chr16:19536035 [GRCh38]
Chr16:19547357 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.1125G>A (p.Met375Ile) single nucleotide variant not provided [RCV004715180]|not specified [RCV000455799] Chr16:19536794 [GRCh38]
Chr16:19548116 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_001323572.2(CCP110):c.1402C>T (p.His468Tyr) single nucleotide variant not specified [RCV004307189] Chr16:19537071 [GRCh38]
Chr16:19548393 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001323572.2(CCP110):c.1169T>C (p.Ile390Thr) single nucleotide variant not specified [RCV004288188] Chr16:19536838 [GRCh38]
Chr16:19548160 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 copy number gain See cases [RCV000512428] Chr16:18238275..30177240 [GRCh37]
Chr16:16p12.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001323572.2(CCP110):c.1827T>G (p.Thr609=) single nucleotide variant not provided [RCV000918342] Chr16:19537496 [GRCh38]
Chr16:19548818 [GRCh37]
Chr16:16p12.3		 likely benign
NM_001323572.2(CCP110):c.2099C>T (p.Ala700Val) single nucleotide variant not specified [RCV004295730] Chr16:19541936 [GRCh38]
Chr16:19553258 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1679C>T (p.Thr560Met) single nucleotide variant not provided [RCV000949385] Chr16:19537348 [GRCh38]
Chr16:19548670 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.2220T>C (p.Asn740=) single nucleotide variant not provided [RCV000947682] Chr16:19542057 [GRCh38]
Chr16:19553379 [GRCh37]
Chr16:16p12.3		 benign
NM_001323572.2(CCP110):c.2900+526G>T single nucleotide variant not specified [RCV004283962] Chr16:19548540 [GRCh38]
Chr16:19559862 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2535A>G (p.Arg845=) single nucleotide variant not provided [RCV000890193] Chr16:19544847 [GRCh38]
Chr16:19556169 [GRCh37]
Chr16:16p12.3		 benign
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_001323572.2(CCP110):c.2725G>A (p.Val909Met) single nucleotide variant not specified [RCV004098666] Chr16:19545838 [GRCh38]
Chr16:19557160 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2302A>G (p.Thr768Ala) single nucleotide variant not specified [RCV004227533] Chr16:19542695 [GRCh38]
Chr16:19554017 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.878C>G (p.Pro293Arg) single nucleotide variant not specified [RCV004145482] Chr16:19536547 [GRCh38]
Chr16:19547869 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.925G>A (p.Ala309Thr) single nucleotide variant not specified [RCV004095736] Chr16:19536594 [GRCh38]
Chr16:19547916 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2653A>G (p.Ile885Val) single nucleotide variant not specified [RCV004093405] Chr16:19545160 [GRCh38]
Chr16:19556482 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1298C>T (p.Ala433Val) single nucleotide variant not specified [RCV004088371] Chr16:19536967 [GRCh38]
Chr16:19548289 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1943A>G (p.Lys648Arg) single nucleotide variant not specified [RCV004201406] Chr16:19540681 [GRCh38]
Chr16:19552003 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1805A>G (p.Tyr602Cys) single nucleotide variant not specified [RCV004203648] Chr16:19537474 [GRCh38]
Chr16:19548796 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1849C>T (p.Pro617Ser) single nucleotide variant not specified [RCV004073576] Chr16:19537518 [GRCh38]
Chr16:19548840 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2691G>C (p.Met897Ile) single nucleotide variant not specified [RCV004143468] Chr16:19545198 [GRCh38]
Chr16:19556520 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1802C>T (p.Pro601Leu) single nucleotide variant not specified [RCV004113410] Chr16:19537471 [GRCh38]
Chr16:19548793 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.263A>G (p.Asn88Ser) single nucleotide variant not specified [RCV004226383] Chr16:19532537 [GRCh38]
Chr16:19543859 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1141A>G (p.Arg381Gly) single nucleotide variant not specified [RCV004127377] Chr16:19536810 [GRCh38]
Chr16:19548132 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2807A>C (p.Lys936Thr) single nucleotide variant not specified [RCV004175958] Chr16:19546441 [GRCh38]
Chr16:19557763 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.247C>G (p.Gln83Glu) single nucleotide variant not specified [RCV004129844] Chr16:19532521 [GRCh38]
Chr16:19543843 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1639G>A (p.Val547Ile) single nucleotide variant not specified [RCV004186691] Chr16:19537308 [GRCh38]
Chr16:19548630 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2943C>A (p.Cys981Ter) single nucleotide variant not specified [RCV004169330] Chr16:19551238 [GRCh38]
Chr16:19562560 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.743T>C (p.Leu248Pro) single nucleotide variant not specified [RCV004193591] Chr16:19536412 [GRCh38]
Chr16:19547734 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.7G>A (p.Glu3Lys) single nucleotide variant not specified [RCV004091427] Chr16:19527888 [GRCh38]
Chr16:19539210 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1318G>T (p.Val440Phe) single nucleotide variant not specified [RCV004089526] Chr16:19536987 [GRCh38]
Chr16:19548309 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.968T>C (p.Val323Ala) single nucleotide variant not specified [RCV004251623] Chr16:19536637 [GRCh38]
Chr16:19547959 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2795T>C (p.Met932Thr) single nucleotide variant not specified [RCV004280775] Chr16:19546429 [GRCh38]
Chr16:19557751 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2891G>A (p.Ser964Asn) single nucleotide variant not specified [RCV004273105] Chr16:19548005 [GRCh38]
Chr16:19559327 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2701A>C (p.Met901Leu) single nucleotide variant not specified [RCV004322534] Chr16:19545208 [GRCh38]
Chr16:19556530 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1757G>A (p.Arg586Gln) single nucleotide variant not specified [RCV004328755] Chr16:19537426 [GRCh38]
Chr16:19548748 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.242G>A (p.Arg81His) single nucleotide variant not specified [RCV004336256] Chr16:19532516 [GRCh38]
Chr16:19543838 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.43A>G (p.Ile15Val) single nucleotide variant not specified [RCV004337195] Chr16:19527924 [GRCh38]
Chr16:19539246 [GRCh37]
Chr16:16p12.3		 uncertain significance
GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3 copy number gain not provided [RCV003485106] Chr16:19046826..19831178 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2931G>A (p.Ala977=) single nucleotide variant not specified [RCV004432933] Chr16:19551226 [GRCh38]
Chr16:19562548 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.934A>C (p.Met312Leu) single nucleotide variant not specified [RCV004432935] Chr16:19536603 [GRCh38]
Chr16:19547925 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1934T>C (p.Leu645Pro) single nucleotide variant not specified [RCV004432926] Chr16:19540672 [GRCh38]
Chr16:19551994 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1130G>A (p.Arg377Gln) single nucleotide variant not specified [RCV004432920] Chr16:19536799 [GRCh38]
Chr16:19548121 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1181T>A (p.Ile394Lys) single nucleotide variant not specified [RCV004432921] Chr16:19536850 [GRCh38]
Chr16:19548172 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2452G>A (p.Asp818Asn) single nucleotide variant not specified [RCV004432929] Chr16:19542962 [GRCh38]
Chr16:19554284 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2662C>A (p.His888Asn) single nucleotide variant not specified [RCV004432930] Chr16:19545169 [GRCh38]
Chr16:19556491 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1441G>A (p.Glu481Lys) single nucleotide variant not specified [RCV004432923] Chr16:19537110 [GRCh38]
Chr16:19548432 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1493G>C (p.Cys498Ser) single nucleotide variant not specified [RCV004432924] Chr16:19537162 [GRCh38]
Chr16:19548484 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1983A>G (p.Glu661=) single nucleotide variant not specified [RCV004432927] Chr16:19540721 [GRCh38]
Chr16:19552043 [GRCh37]
Chr16:16p12.3		 likely benign
NM_001323572.2(CCP110):c.200A>T (p.Glu67Val) single nucleotide variant not specified [RCV004432928] Chr16:19532474 [GRCh38]
Chr16:19543796 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2882G>A (p.Arg961Lys) single nucleotide variant not specified [RCV004432931] Chr16:19547996 [GRCh38]
Chr16:19559318 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1654C>T (p.Pro552Ser) single nucleotide variant not specified [RCV004432925] Chr16:19537323 [GRCh38]
Chr16:19548645 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.696G>A (p.Met232Ile) single nucleotide variant not specified [RCV004432934] Chr16:19536365 [GRCh38]
Chr16:19547687 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.167T>C (p.Met56Thr) single nucleotide variant not specified [RCV004604899] Chr16:19532441 [GRCh38]
Chr16:19543763 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2863C>G (p.Gln955Glu) single nucleotide variant not specified [RCV004604900] Chr16:19547977 [GRCh38]
Chr16:19559299 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.2678G>A (p.Arg893His) single nucleotide variant not specified [RCV004604895] Chr16:19545185 [GRCh38]
Chr16:19556507 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1279A>G (p.Lys427Glu) single nucleotide variant not specified [RCV004604894] Chr16:19536948 [GRCh38]
Chr16:19548270 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1118C>T (p.Pro373Leu) single nucleotide variant not specified [RCV004604898] Chr16:19536787 [GRCh38]
Chr16:19548109 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.856_857del (p.Val286fs) microsatellite See cases [RCV004577928] Chr16:19536522..19536523 [GRCh38]
Chr16:19547844..19547845 [GRCh37]
Chr16:16p12.3		 likely pathogenic
NM_001323572.2(CCP110):c.1088A>G (p.Lys363Arg) single nucleotide variant not specified [RCV004604897] Chr16:19536757 [GRCh38]
Chr16:19548079 [GRCh37]
Chr16:16p12.3		 uncertain significance
NM_001323572.2(CCP110):c.1129C>T (p.Arg377Ter) single nucleotide variant See cases [RCV004577927] Chr16:19536798 [GRCh38]
Chr16:19548120 [GRCh37]
Chr16:16p12.3		 likely pathogenic
NM_001323572.2(CCP110):c.973A>C (p.Ile325Leu) single nucleotide variant not specified [RCV004604896] Chr16:19536642 [GRCh38]
Chr16:19547964 [GRCh37]
Chr16:16p12.3		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR129-2hsa-miR-129-2-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22684256

Predicted Target Of
Summary Value
Count of predictions:3265
Count of miRNA genes:871
Interacting mature miRNAs:1040
Transcripts:ENST00000381396, ENST00000396208, ENST00000396212, ENST00000561888, ENST00000562083, ENST00000562616, ENST00000565376, ENST00000566523, ENST00000567451, ENST00000569190, ENST00000573412
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407043104GWAS692080_Hbody mass index QTL GWAS692080 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)161954422519544226Human

Markers in Region
CP110_8986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371619,563,964 - 19,564,778UniSTSGRCh37
Build 361619,471,465 - 19,472,279RGDNCBI36
Celera1618,712,962 - 18,713,776RGD
HuRef1618,100,564 - 18,101,378UniSTS
SHGC-60794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371619,564,558 - 19,564,696UniSTSGRCh37
Build 361619,472,059 - 19,472,197RGDNCBI36
Celera1618,713,556 - 18,713,694RGD
Cytogenetic Map16p12.3UniSTS
HuRef1618,101,158 - 18,101,296UniSTS
GeneMap99-GB4 RH Map16185.37UniSTS
Whitehead-RH Map1696.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4972 1726 2351 6 624 1951 465 2269 7306 6472 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001199022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC003108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP360952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ632514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY798911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB066937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN307903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN307908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA250590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA370828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB504255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000381396   ⟹   ENSP00000370803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,857 - 19,553,408 (+)Ensembl
Ensembl Acc Id: ENST00000396208   ⟹   ENSP00000379511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,524,275 - 19,553,408 (+)Ensembl
Ensembl Acc Id: ENST00000396212   ⟹   ENSP00000379515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,811 - 19,553,408 (+)Ensembl
Ensembl Acc Id: ENST00000561888   ⟹   ENSP00000459410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,527,921 - 19,536,197 (+)Ensembl
Ensembl Acc Id: ENST00000562083   ⟹   ENSP00000458123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,961 - 19,542,066 (+)Ensembl
Ensembl Acc Id: ENST00000562616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,546,849 - 19,551,622 (+)Ensembl
Ensembl Acc Id: ENST00000565376   ⟹   ENSP00000454514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,939 - 19,528,031 (+)Ensembl
Ensembl Acc Id: ENST00000566523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,545,142 - 19,546,565 (+)Ensembl
Ensembl Acc Id: ENST00000567451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,547,732 - 19,551,477 (+)Ensembl
Ensembl Acc Id: ENST00000569190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,879 - 19,527,169 (+)Ensembl
Ensembl Acc Id: ENST00000573412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,942 - 19,525,799 (+)Ensembl
Ensembl Acc Id: ENST00000694978   ⟹   ENSP00000511625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1619,523,942 - 19,553,408 (+)Ensembl
RefSeq Acc Id: NM_001199022   ⟹   NP_001185951
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
GRCh371619,535,179 - 19,564,730 (+)ENTREZGENE
HuRef1618,072,098 - 18,101,330 (+)ENTREZGENE
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323569   ⟹   NP_001310498
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323570   ⟹   NP_001310499
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323571   ⟹   NP_001310500
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323572   ⟹   NP_001310501
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323576   ⟹   NP_001310505
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323577   ⟹   NP_001310506
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014711   ⟹   NP_055526
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
GRCh371619,535,179 - 19,564,730 (+)ENTREZGENE
Build 361619,442,709 - 19,472,231 (+)NCBI Archive
HuRef1618,072,098 - 18,101,330 (+)ENTREZGENE
CHM1_11619,622,433 - 19,651,971 (+)NCBI
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545991   ⟹   XP_011544293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545992   ⟹   XP_011544294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017023908   ⟹   XP_016879397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434961   ⟹   XP_047290917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381619,523,942 - 19,553,408 (+)NCBI
RefSeq Acc Id: XM_054314500   ⟹   XP_054170475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
RefSeq Acc Id: XM_054314501   ⟹   XP_054170476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
RefSeq Acc Id: XM_054314502   ⟹   XP_054170477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
RefSeq Acc Id: XM_054314503   ⟹   XP_054170478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01619,454,815 - 19,484,280 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001185951 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310498 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310499 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310500 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310501 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310506 (Get FASTA)   NCBI Sequence Viewer  
  NP_055526 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544293 (Get FASTA)   NCBI Sequence Viewer  
  XP_011544294 (Get FASTA)   NCBI Sequence Viewer  
  XP_016879397 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290917 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170477 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170478 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC05804 (Get FASTA)   NCBI Sequence Viewer  
  AAH36654 (Get FASTA)   NCBI Sequence Viewer  
  BAA24849 (Get FASTA)   NCBI Sequence Viewer  
  BAG62153 (Get FASTA)   NCBI Sequence Viewer  
  CAH18111 (Get FASTA)   NCBI Sequence Viewer  
  EAW50287 (Get FASTA)   NCBI Sequence Viewer  
  EAW50288 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000370803
  ENSP00000370803.5
  ENSP00000379511.2
  ENSP00000379515
  ENSP00000379515.2
  ENSP00000454514.2
  ENSP00000458123.1
  ENSP00000459410.1
  ENSP00000511625
  ENSP00000511625.1
GenBank Protein O43303 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055526   ⟸   NM_014711
- Peptide Label: isoform 2
- UniProtKB: B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185951   ⟸   NM_001199022
- Peptide Label: isoform 1
- UniProtKB: Q68DV9 (UniProtKB/Swiss-Prot),   O43335 (UniProtKB/Swiss-Prot),   B7WP23 (UniProtKB/Swiss-Prot),   Q8NE13 (UniProtKB/Swiss-Prot),   O43303 (UniProtKB/Swiss-Prot),   B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544293   ⟸   XM_011545991
- Peptide Label: isoform X1
- UniProtKB: Q68DV9 (UniProtKB/Swiss-Prot),   O43335 (UniProtKB/Swiss-Prot),   B7WP23 (UniProtKB/Swiss-Prot),   Q8NE13 (UniProtKB/Swiss-Prot),   O43303 (UniProtKB/Swiss-Prot),   B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011544294   ⟸   XM_011545992
- Peptide Label: isoform X1
- UniProtKB: Q68DV9 (UniProtKB/Swiss-Prot),   O43335 (UniProtKB/Swiss-Prot),   B7WP23 (UniProtKB/Swiss-Prot),   Q8NE13 (UniProtKB/Swiss-Prot),   O43303 (UniProtKB/Swiss-Prot),   B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310499   ⟸   NM_001323570
- Peptide Label: isoform 2
- UniProtKB: B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310500   ⟸   NM_001323571
- Peptide Label: isoform 2
- UniProtKB: B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310498   ⟸   NM_001323569
- Peptide Label: isoform 1
- UniProtKB: Q68DV9 (UniProtKB/Swiss-Prot),   O43335 (UniProtKB/Swiss-Prot),   B7WP23 (UniProtKB/Swiss-Prot),   Q8NE13 (UniProtKB/Swiss-Prot),   O43303 (UniProtKB/Swiss-Prot),   B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310505   ⟸   NM_001323576
- Peptide Label: isoform 3
- UniProtKB: B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310501   ⟸   NM_001323572
- Peptide Label: isoform 2
- UniProtKB: B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001310506   ⟸   NM_001323577
- Peptide Label: isoform 3
- UniProtKB: B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016879397   ⟸   XM_017023908
- Peptide Label: isoform X1
- UniProtKB: Q68DV9 (UniProtKB/Swiss-Prot),   O43335 (UniProtKB/Swiss-Prot),   B7WP23 (UniProtKB/Swiss-Prot),   Q8NE13 (UniProtKB/Swiss-Prot),   O43303 (UniProtKB/Swiss-Prot),   B4DTZ1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000459410   ⟸   ENST00000561888
Ensembl Acc Id: ENSP00000458123   ⟸   ENST00000562083
Ensembl Acc Id: ENSP00000454514   ⟸   ENST00000565376
Ensembl Acc Id: ENSP00000370803   ⟸   ENST00000381396
Ensembl Acc Id: ENSP00000379511   ⟸   ENST00000396208
Ensembl Acc Id: ENSP00000379515   ⟸   ENST00000396212
Ensembl Acc Id: ENSP00000511625   ⟸   ENST00000694978
RefSeq Acc Id: XP_047290917   ⟸   XM_047434961
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170477   ⟸   XM_054314502
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054170475   ⟸   XM_054314500
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054170478   ⟸   XM_054314503
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170476   ⟸   XM_054314501
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43303-F1-model_v2 AlphaFold O43303 1-1012 view protein structure

Promoters
RGD ID:6793244
Promoter ID:HG_KWN:23183
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:ENST00000396212,   UC002DGJ.2,   UC002DGL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361619,442,551 - 19,443,051 (+)MPROMDB
RGD ID:6815138
Promoter ID:HG_MRA:5862
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC034140
Position:
Human AssemblyChrPosition (strand)Source
Build 361619,443,951 - 19,444,451 (+)MPROMDB
RGD ID:7231483
Promoter ID:EPDNEW_H21486
Type:initiation region
Name:CCP110_1
Description:centriolar coiled-coil protein 110
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
GRCh381619,523,942 - 19,524,002EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24342 AgrOrtholog
COSMIC CCP110 COSMIC
Ensembl Genes ENSG00000103540 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000381396 ENTREZGENE
  ENST00000381396.9 UniProtKB/Swiss-Prot
  ENST00000396208.4 UniProtKB/Swiss-Prot
  ENST00000396212 ENTREZGENE
  ENST00000396212.6 UniProtKB/Swiss-Prot
  ENST00000561888.1 UniProtKB/TrEMBL
  ENST00000562083.1 UniProtKB/TrEMBL
  ENST00000565376.2 UniProtKB/TrEMBL
  ENST00000694978 ENTREZGENE
  ENST00000694978.1 UniProtKB/Swiss-Prot
GTEx ENSG00000103540 GTEx
HGNC ID HGNC:24342 ENTREZGENE
Human Proteome Map CCP110 Human Proteome Map
InterPro CCP110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9738 UniProtKB/Swiss-Prot
NCBI Gene 9738 ENTREZGENE
OMIM 609544 OMIM
PANTHER CENTRIOLAR COILED-COIL PROTEIN OF 110 KDA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13594 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CaM_bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166048960 PharmGKB
UniProt B4DTZ1 ENTREZGENE, UniProtKB/TrEMBL
  B7WP23 ENTREZGENE
  CP110_HUMAN UniProtKB/Swiss-Prot
  H3BMS1_HUMAN UniProtKB/TrEMBL
  H3BVH3_HUMAN UniProtKB/TrEMBL
  I3L262_HUMAN UniProtKB/TrEMBL
  O43303 ENTREZGENE
  O43335 ENTREZGENE
  Q68DV9 ENTREZGENE
  Q8NE13 ENTREZGENE
UniProt Secondary B7WP23 UniProtKB/Swiss-Prot
  O43335 UniProtKB/Swiss-Prot
  Q68DV9 UniProtKB/Swiss-Prot
  Q8NE13 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 CCP110  centriolar coiled-coil protein 110    centriolar coiled-coil protein 110kDa  Symbol and/or name change 5135510 APPROVED
2015-11-24 CCP110  centriolar coiled-coil protein 110kDa    centriolar coiled coil protein 110kDa  Symbol and/or name change 5135510 APPROVED
2011-07-27 CCP110  centriolar coiled coil protein 110kDa  CP110  CP110 protein  Symbol and/or name change 5135510 APPROVED