CCDC15 (coiled-coil domain containing 15) - Rat Genome Database

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Gene: CCDC15 (coiled-coil domain containing 15) Homo sapiens
Analyze
Symbol: CCDC15
Name: coiled-coil domain containing 15
RGD ID: 1605034
HGNC Page HGNC:25798
Description: Involved in cilium assembly and positive regulation of centriole elongation. Located in centriole and centrosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: coiled-coil domain-containing protein 15; FLJ13215
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
GRCh3811124,954,202 - 125,041,489 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11124,954,121 - 125,041,489 (+)EnsemblGRCh38hg38GRCh38
GRCh3711124,824,098 - 124,911,385 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,329,227 - 124,416,595 (+)NCBINCBI36Build 36hg18NCBI36
Celera11121,984,158 - 122,071,427 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,766,209 - 120,853,474 (+)NCBIHuRef
CHM1_111124,710,126 - 124,797,386 (+)NCBICHM1_1
T2T-CHM13v2.011124,982,721 - 125,070,161 (+)NCBIT2T-CHM13v2.0
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
centriolar satellite  (IEA)
centriole  (IDA,IEA)
centrosome  (IBA,IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12477932   PMID:14702039   PMID:20379614   PMID:21399614   PMID:21832049   PMID:21873635   PMID:24324551   PMID:24613305   PMID:25609649   PMID:28514442   PMID:29507755   PMID:30979931  
PMID:33961781   PMID:34079125   PMID:35914814   PMID:37934472  


Genomics

Comparative Map Data
CCDC15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811124,954,202 - 125,041,489 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11124,954,121 - 125,041,489 (+)EnsemblGRCh38hg38GRCh38
GRCh3711124,824,098 - 124,911,385 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611124,329,227 - 124,416,595 (+)NCBINCBI36Build 36hg18NCBI36
Celera11121,984,158 - 122,071,427 (+)NCBICelera
Cytogenetic Map11q24.2NCBI
HuRef11120,766,209 - 120,853,474 (+)NCBIHuRef
CHM1_111124,710,126 - 124,797,386 (+)NCBICHM1_1
T2T-CHM13v2.011124,982,721 - 125,070,161 (+)NCBIT2T-CHM13v2.0
Ccdc15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39937,178,758 - 37,262,508 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl937,187,131 - 37,259,728 (-)EnsemblGRCm39 Ensembl
GRCm38937,267,462 - 37,350,218 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl937,275,835 - 37,348,432 (-)EnsemblGRCm38mm10GRCm38
MGSCv37937,083,420 - 37,155,977 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36937,025,506 - 37,098,105 (-)NCBIMGSCv36mm8
Celera934,490,165 - 34,562,711 (-)NCBICelera
Cytogenetic Map9A4NCBI
cM Map920.74NCBI
Ccdc15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8845,165,297 - 45,257,641 (-)NCBIGRCr8
mRatBN7.2836,991,147 - 37,068,849 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl836,998,867 - 37,068,919 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0839,759,077 - 39,830,235 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl839,762,035 - 39,830,306 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0839,757,789 - 39,846,057 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4838,534,697 - 38,603,744 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1838,572,522 - 38,612,510 (-)NCBI
Celera837,382,910 - 37,453,937 (+)NCBICelera
Cytogenetic Map8q22NCBI
Ccdc15
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541226,005,090 - 26,089,615 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541226,014,842 - 26,089,556 (+)NCBIChiLan1.0ChiLan1.0
CCDC15
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29125,650,094 - 125,750,743 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111126,754,989 - 126,850,884 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011119,781,702 - 119,872,629 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111123,696,106 - 123,783,190 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11123,696,718 - 123,782,549 (+)Ensemblpanpan1.1panPan2
CCDC15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.159,425,436 - 9,505,370 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl59,425,997 - 9,504,919 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha59,467,551 - 9,550,498 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.059,361,883 - 9,444,671 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl59,364,705 - 9,444,598 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.159,434,680 - 9,517,431 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.059,405,174 - 9,487,965 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.059,441,819 - 9,524,807 (-)NCBIUU_Cfam_GSD_1.0
Ccdc15
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947107,140,521 - 107,214,867 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049367431,441,967 - 1,462,462 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl952,147,082 - 52,217,674 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1952,146,298 - 52,217,679 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2957,654,393 - 57,731,500 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11116,086,222 - 116,203,398 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660439,917,198 - 10,020,384 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc15
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624927962,958 - 1,084,156 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624927963,083 - 1,105,668 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC15
81 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25		 pathogenic
NM_025004.3(CCDC15):c.901-1G>C single nucleotide variant not provided [RCV000122571] Chr11:124987126 [GRCh38]
Chr11:124857022 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-24.2(chr11:122182443-125957977)x1 copy number loss See cases [RCV000136594] Chr11:122182443..125957977 [GRCh38]
Chr11:122053151..125827872 [GRCh37]
Chr11:121558361..125333082 [NCBI36]
Chr11:11q24.1-24.2		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.2(chr11:124565941-125095785)x1 copy number loss See cases [RCV000138074] Chr11:124565941..125095785 [GRCh38]
Chr11:124435837..124965681 [GRCh37]
Chr11:123941047..124470891 [NCBI36]
Chr11:11q24.2		 uncertain significance
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|likely benign
GRCh38/hg38 11q23.3-24.2(chr11:120080142-125829106)x1 copy number loss See cases [RCV000140070] Chr11:120080142..125829106 [GRCh38]
Chr11:119950851..125699001 [GRCh37]
Chr11:119456061..125204211 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25		 pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:124824717-124951727)x3 copy number gain Breast ductal adenocarcinoma [RCV000207199] Chr11:124824717..124951727 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.2(chr11:124254553-125315622)x1 copy number loss See cases [RCV000448684] Chr11:124254553..125315622 [GRCh37]
Chr11:11q24.2		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_025004.3(CCDC15):c.2837G>A (p.Arg946Gln) single nucleotide variant not specified [RCV004298150] Chr11:125040692 [GRCh38]
Chr11:124910588 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1162A>G (p.Thr388Ala) single nucleotide variant not specified [RCV004315812] Chr11:124987388 [GRCh38]
Chr11:124857284 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1396A>G (p.Lys466Glu) single nucleotide variant not specified [RCV004299065] Chr11:124987622 [GRCh38]
Chr11:124857518 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_025004.3(CCDC15):c.341G>C (p.Gly114Ala) single nucleotide variant not provided [RCV000972846] Chr11:124959828 [GRCh38]
Chr11:124829724 [GRCh37]
Chr11:11q24.2		 benign
NM_025004.3(CCDC15):c.30T>C (p.Pro10=) single nucleotide variant not provided [RCV000959922] Chr11:124954762 [GRCh38]
Chr11:124824658 [GRCh37]
Chr11:11q24.2		 benign
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:120531028-134257553) copy number loss 11q partial monosomy syndrome [RCV003236728] Chr11:120531028..134257553 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25		 pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25		 pathogenic
NM_025004.3(CCDC15):c.328G>A (p.Ala110Thr) single nucleotide variant not specified [RCV004609830] Chr11:124959815 [GRCh38]
Chr11:124829711 [GRCh37]
Chr11:11q24.2		 uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)dup duplication Holoprosencephaly 11 [RCV001871151] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NC_000011.9:g.(?_123504851)_(126163012_?)del deletion Holoprosencephaly 11 [RCV003119757]|not provided [RCV003119756] Chr11:123504851..126163012 [GRCh37]
Chr11:11q24.1-24.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_025004.3(CCDC15):c.2155C>G (p.Leu719Val) single nucleotide variant not specified [RCV004315290] Chr11:124993184 [GRCh38]
Chr11:124863080 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.2(chr11:124788547-124894689)x1 copy number loss not provided [RCV002474606] Chr11:124788547..124894689 [GRCh37]
Chr11:11q24.2		 uncertain significance
GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1 copy number loss not provided [RCV002474497] Chr11:122975824..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
NM_025004.3(CCDC15):c.2468T>G (p.Met823Arg) single nucleotide variant not specified [RCV004609831] Chr11:125038487 [GRCh38]
Chr11:124908383 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.966T>G (p.Phe322Leu) single nucleotide variant not specified [RCV004116672] Chr11:124987192 [GRCh38]
Chr11:124857088 [GRCh37]
Chr11:11q24.2		 likely benign
NM_025004.3(CCDC15):c.1169G>C (p.Gly390Ala) single nucleotide variant not specified [RCV004146251] Chr11:124987395 [GRCh38]
Chr11:124857291 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1262C>T (p.Thr421Met) single nucleotide variant not specified [RCV004220967] Chr11:124987488 [GRCh38]
Chr11:124857384 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.890G>T (p.Ser297Ile) single nucleotide variant not specified [RCV004219633] Chr11:124986878 [GRCh38]
Chr11:124856774 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1268A>T (p.Asn423Ile) single nucleotide variant not specified [RCV004205770] Chr11:124987494 [GRCh38]
Chr11:124857390 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1475A>G (p.Asp492Gly) single nucleotide variant not specified [RCV004131197] Chr11:124987701 [GRCh38]
Chr11:124857597 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2443G>T (p.Ala815Ser) single nucleotide variant not specified [RCV004082716] Chr11:125038462 [GRCh38]
Chr11:124908358 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.541C>T (p.Arg181Cys) single nucleotide variant Neurodevelopmental disorder [RCV004587462]|not specified [RCV004228650] Chr11:124975120 [GRCh38]
Chr11:124845016 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.947A>G (p.Glu316Gly) single nucleotide variant not specified [RCV004179850] Chr11:124987173 [GRCh38]
Chr11:124857069 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2323C>G (p.Leu775Val) single nucleotide variant not specified [RCV004163285] Chr11:125005124 [GRCh38]
Chr11:124875020 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.649C>T (p.Pro217Ser) single nucleotide variant not specified [RCV004204575] Chr11:124977496 [GRCh38]
Chr11:124847392 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2053G>A (p.Glu685Lys) single nucleotide variant not specified [RCV004146480] Chr11:124992601 [GRCh38]
Chr11:124862497 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1204G>A (p.Glu402Lys) single nucleotide variant not specified [RCV004087359] Chr11:124987430 [GRCh38]
Chr11:124857326 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.55G>A (p.Ala19Thr) single nucleotide variant not specified [RCV004204319] Chr11:124954787 [GRCh38]
Chr11:124824683 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1972C>G (p.Leu658Val) single nucleotide variant not specified [RCV004226165] Chr11:124991524 [GRCh38]
Chr11:124861420 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1760C>A (p.Pro587His) single nucleotide variant not specified [RCV004072767] Chr11:124987986 [GRCh38]
Chr11:124857882 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2368A>G (p.Lys790Glu) single nucleotide variant not specified [RCV004097328] Chr11:125005169 [GRCh38]
Chr11:124875065 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.889A>G (p.Ser297Gly) single nucleotide variant not specified [RCV004216747] Chr11:124986877 [GRCh38]
Chr11:124856773 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.304C>G (p.Gln102Glu) single nucleotide variant not specified [RCV004299136] Chr11:124959241 [GRCh38]
Chr11:124829137 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.75C>A (p.Ser25Arg) single nucleotide variant not specified [RCV004275271] Chr11:124954807 [GRCh38]
Chr11:124824703 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2000A>G (p.Lys667Arg) single nucleotide variant not specified [RCV004270660] Chr11:124991552 [GRCh38]
Chr11:124861448 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2009A>G (p.Asp670Gly) single nucleotide variant not specified [RCV004276178] Chr11:124991561 [GRCh38]
Chr11:124861457 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.64C>T (p.Pro22Ser) single nucleotide variant not specified [RCV004280717] Chr11:124954796 [GRCh38]
Chr11:124824692 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1265A>G (p.Lys422Arg) single nucleotide variant not specified [RCV004268953] Chr11:124987491 [GRCh38]
Chr11:124857387 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1727T>C (p.Ile576Thr) single nucleotide variant not specified [RCV004268182] Chr11:124987953 [GRCh38]
Chr11:124857849 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2554G>A (p.Glu852Lys) single nucleotide variant not specified [RCV004347180] Chr11:125038573 [GRCh38]
Chr11:124908469 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.742A>G (p.Met248Val) single nucleotide variant not specified [RCV004349787] Chr11:124977589 [GRCh38]
Chr11:124847485 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2645T>C (p.Leu882Ser) single nucleotide variant not specified [RCV004347318] Chr11:125038980 [GRCh38]
Chr11:124908876 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.443C>G (p.Pro148Arg) single nucleotide variant not specified [RCV004347711] Chr11:124959930 [GRCh38]
Chr11:124829826 [GRCh37]
Chr11:11q24.2		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_025004.3(CCDC15):c.1635T>C (p.His545=) single nucleotide variant not provided [RCV003424895] Chr11:124987861 [GRCh38]
Chr11:124857757 [GRCh37]
Chr11:11q24.2		 likely benign
GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 copy number loss not specified [RCV003986915] Chr11:121183636..127620828 [GRCh37]
Chr11:11q23.3-24.2		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1 copy number loss not specified [RCV003986947] Chr11:123523103..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1 copy number loss not specified [RCV003986923] Chr11:121423232..134938470 [GRCh37]
Chr11:11q24.1-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_025004.3(CCDC15):c.16G>A (p.Ala6Thr) single nucleotide variant not specified [RCV004432882] Chr11:124954748 [GRCh38]
Chr11:124824644 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1226C>T (p.Thr409Ile) single nucleotide variant not specified [RCV004432878] Chr11:124987452 [GRCh38]
Chr11:124857348 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.130G>T (p.Ala44Ser) single nucleotide variant not specified [RCV004432879] Chr11:124954862 [GRCh38]
Chr11:124824758 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1793A>C (p.Asn598Thr) single nucleotide variant not specified [RCV004432883] Chr11:124988019 [GRCh38]
Chr11:124857915 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.362C>T (p.Ser121Leu) single nucleotide variant not specified [RCV004432892] Chr11:124959849 [GRCh38]
Chr11:124829745 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1601C>T (p.Pro534Leu) single nucleotide variant not specified [RCV004432881] Chr11:124987827 [GRCh38]
Chr11:124857723 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1864A>G (p.Ile622Val) single nucleotide variant not specified [RCV004432884] Chr11:124988090 [GRCh38]
Chr11:124857986 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2172G>T (p.Glu724Asp) single nucleotide variant not specified [RCV004432886] Chr11:124993201 [GRCh38]
Chr11:124863097 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2653C>G (p.Leu885Val) single nucleotide variant not specified [RCV004432888] Chr11:125038988 [GRCh38]
Chr11:124908884 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2753A>T (p.His918Leu) single nucleotide variant not specified [RCV004432889] Chr11:125040608 [GRCh38]
Chr11:124910504 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.372C>G (p.His124Gln) single nucleotide variant not specified [RCV004432893] Chr11:124959859 [GRCh38]
Chr11:124829755 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.268C>T (p.Arg90Ter) single nucleotide variant Neurodevelopmental disorder [RCV004586509] Chr11:124959205 [GRCh38]
Chr11:124829101 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.131C>T (p.Ala44Val) single nucleotide variant not specified [RCV004432880] Chr11:124954863 [GRCh38]
Chr11:124824759 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2281G>A (p.Val761Met) single nucleotide variant not specified [RCV004432887] Chr11:125003933 [GRCh38]
Chr11:124873829 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.883C>T (p.Pro295Ser) single nucleotide variant not specified [RCV004432895] Chr11:124986871 [GRCh38]
Chr11:124856767 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1920T>G (p.Phe640Leu) single nucleotide variant not specified [RCV004432885] Chr11:124991472 [GRCh38]
Chr11:124861368 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.314A>T (p.Lys105Met) single nucleotide variant not specified [RCV004432891] Chr11:124959251 [GRCh38]
Chr11:124829147 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.82G>A (p.Val28Met) single nucleotide variant not specified [RCV004432894] Chr11:124954814 [GRCh38]
Chr11:124824710 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.400C>T (p.Pro134Ser) single nucleotide variant not specified [RCV004602927] Chr11:124959887 [GRCh38]
Chr11:124829783 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.341G>T (p.Gly114Val) single nucleotide variant not specified [RCV004602925] Chr11:124959828 [GRCh38]
Chr11:124829724 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2743C>T (p.Arg915Trp) single nucleotide variant not specified [RCV004602926] Chr11:125040598 [GRCh38]
Chr11:124910494 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1625G>A (p.Arg542Lys) single nucleotide variant not specified [RCV004602930] Chr11:124987851 [GRCh38]
Chr11:124857747 [GRCh37]
Chr11:11q24.2		 likely benign
NM_025004.3(CCDC15):c.2062G>A (p.Val688Met) single nucleotide variant not specified [RCV004602931] Chr11:124992610 [GRCh38]
Chr11:124862506 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.439C>G (p.Pro147Ala) single nucleotide variant not specified [RCV004602929] Chr11:124959926 [GRCh38]
Chr11:124829822 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.980A>G (p.Asp327Gly) single nucleotide variant not specified [RCV004602928] Chr11:124987206 [GRCh38]
Chr11:124857102 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.419C>T (p.Ala140Val) single nucleotide variant not specified [RCV004901108] Chr11:124959906 [GRCh38]
Chr11:124829802 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2727C>A (p.Asn909Lys) single nucleotide variant not specified [RCV004894867] Chr11:125039062 [GRCh38]
Chr11:124908958 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1286A>C (p.Lys429Thr) single nucleotide variant not specified [RCV004894866] Chr11:124987512 [GRCh38]
Chr11:124857408 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.94C>A (p.Leu32Met) single nucleotide variant not specified [RCV004901096] Chr11:124954826 [GRCh38]
Chr11:124824722 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2087A>G (p.Tyr696Cys) single nucleotide variant not specified [RCV004901097] Chr11:124992635 [GRCh38]
Chr11:124862531 [GRCh37]
Chr11:11q24.2		 likely benign
NM_025004.3(CCDC15):c.650C>T (p.Pro217Leu) single nucleotide variant not specified [RCV004901099] Chr11:124977497 [GRCh38]
Chr11:124847393 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1104G>C (p.Gln368His) single nucleotide variant not specified [RCV004901100] Chr11:124987330 [GRCh38]
Chr11:124857226 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.507A>T (p.Gln169His) single nucleotide variant not specified [RCV004901101] Chr11:124959994 [GRCh38]
Chr11:124829890 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.878A>G (p.Asn293Ser) single nucleotide variant not specified [RCV004901102] Chr11:124986866 [GRCh38]
Chr11:124856762 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1124A>G (p.Gln375Arg) single nucleotide variant not specified [RCV004901103] Chr11:124987350 [GRCh38]
Chr11:124857246 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.229C>G (p.Gln77Glu) single nucleotide variant not specified [RCV004901104] Chr11:124959166 [GRCh38]
Chr11:124829062 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.373T>G (p.Leu125Val) single nucleotide variant not specified [RCV004901105] Chr11:124959860 [GRCh38]
Chr11:124829756 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.211G>C (p.Glu71Gln) single nucleotide variant not specified [RCV004901106] Chr11:124959148 [GRCh38]
Chr11:124829044 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.1573C>T (p.Pro525Ser) single nucleotide variant not specified [RCV004901107] Chr11:124987799 [GRCh38]
Chr11:124857695 [GRCh37]
Chr11:11q24.2		 uncertain significance
NM_025004.3(CCDC15):c.2257G>A (p.Ala753Thr) single nucleotide variant not specified [RCV004901109] Chr11:125003909 [GRCh38]
Chr11:124873805 [GRCh37]
Chr11:11q24.2		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:722
Count of miRNA genes:326
Interacting mature miRNAs:355
Transcripts:ENST00000344762, ENST00000524471, ENST00000529051, ENST00000530061
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597094354GWAS1190428_Hbladder exstrophy QTL GWAS1190428 (human)0.000007bladder exstrophy11125039686125039687Human
597316335GWAS1412409_Hmetabolite measurement QTL GWAS1412409 (human)7e-10metabolite measurement11125006808125006809Human
597334591GWAS1430665_Hcolorectal cancer, hormone replacement therapy QTL GWAS1430665 (human)0.0000008colorectal cancer, hormone replacement therapy11125032246125032247Human
597140256GWAS1236330_HX-21358 measurement QTL GWAS1236330 (human)6e-11X-21358 measurement11125004843125004844Human
597334593GWAS1430667_Hcolorectal cancer, hormone replacement therapy QTL GWAS1430667 (human)0.000005colorectal cancer, hormone replacement therapy11125032246125032247Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human

Markers in Region
D11S4443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,831,793 - 124,832,094UniSTSGRCh37
Build 3611124,337,003 - 124,337,304RGDNCBI36
Celera11121,991,825 - 121,992,126RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,773,875 - 120,774,176UniSTS
SHGC-110431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,853,934 - 124,854,129UniSTSGRCh37
Build 3611124,359,144 - 124,359,339RGDNCBI36
Celera11122,013,965 - 122,014,160RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,796,013 - 120,796,208UniSTS
TNG Radiation Hybrid Map1158690.0UniSTS
SHGC-155035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,823,921 - 124,824,191UniSTSGRCh37
Build 3611124,329,131 - 124,329,401RGDNCBI36
Celera11121,984,062 - 121,984,332RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,766,113 - 120,766,383UniSTS
TNG Radiation Hybrid Map1158669.0UniSTS
REN104373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377114,544,563 - 114,544,818UniSTSGRCh37
GRCh3711124,899,498 - 124,899,749UniSTSGRCh37
Build 367114,331,799 - 114,332,054RGDNCBI36
Celera7109,351,101 - 109,351,356RGD
Celera11122,059,535 - 122,059,786UniSTS
HuRef7108,908,938 - 108,909,193UniSTS
HuRef109,372,029 - 9,372,307UniSTS
CRA_TCAGchr7v27113,939,827 - 113,940,082UniSTS
D11S1147  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,827,744 - 124,828,006UniSTSGRCh37
Build 3611124,332,954 - 124,333,216RGDNCBI36
Celera11121,987,885 - 121,988,147RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,769,936 - 120,770,198UniSTS
D11S1041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711124,858,711 - 124,859,001UniSTSGRCh37
Build 3611124,363,921 - 124,364,211RGDNCBI36
Celera11122,018,742 - 122,019,032RGD
Cytogenetic Map11q24.2UniSTS
HuRef11120,800,790 - 120,801,080UniSTS


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 2433 2782 2246 4970 1725 2349 5 623 1941 465 2269 7276 6451 53 3732 1 852 1740 1615 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK023277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW339835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU569785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB516555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000344762   ⟹   ENSP00000341684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11124,954,202 - 125,041,489 (+)Ensembl
Ensembl Acc Id: ENST00000524471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,038,073 - 125,039,549 (+)Ensembl
Ensembl Acc Id: ENST00000529051   ⟹   ENSP00000435403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11124,954,121 - 125,041,487 (+)Ensembl
Ensembl Acc Id: ENST00000530061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11125,037,456 - 125,040,963 (+)Ensembl
RefSeq Acc Id: NM_025004   ⟹   NP_079280
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,041,489 (+)NCBI
GRCh3711124,824,017 - 124,911,385 (+)RGD
Build 3611124,329,227 - 124,416,595 (+)NCBI Archive
Celera11121,984,158 - 122,071,427 (+)RGD
HuRef11120,766,209 - 120,853,474 (+)ENTREZGENE
CHM1_111124,710,126 - 124,797,386 (+)NCBI
T2T-CHM13v2.011124,982,845 - 125,070,161 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018346   ⟹   XP_016873835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018347   ⟹   XP_016873836
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018348   ⟹   XP_016873837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018349   ⟹   XP_016873838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,924 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018350   ⟹   XP_016873839
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018351   ⟹   XP_016873840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018352   ⟹   XP_016873841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,801 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018353   ⟹   XP_016873842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427627   ⟹   XP_047283583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,202 - 125,016,039 (+)NCBI
RefSeq Acc Id: XM_047427628   ⟹   XP_047283584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,724 - 125,016,039 (+)NCBI
RefSeq Acc Id: XM_047427630   ⟹   XP_047283586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811124,954,724 - 125,016,039 (+)NCBI
RefSeq Acc Id: XM_054370014   ⟹   XP_054225989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,721 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370015   ⟹   XP_054225990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,763 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370016   ⟹   XP_054225991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,721 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370017   ⟹   XP_054225992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,983,567 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370018   ⟹   XP_054225993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,721 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370019   ⟹   XP_054225994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,721 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370020   ⟹   XP_054225995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,983,367 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370021   ⟹   XP_054225996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,721 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370022   ⟹   XP_054225997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,983,444 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370023   ⟹   XP_054225998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,982,721 - 125,033,756 (+)NCBI
RefSeq Acc Id: XM_054370024   ⟹   XP_054225999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011124,983,367 - 125,033,756 (+)NCBI
Protein Sequences
Protein RefSeqs NP_079280 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873835 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873836 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873837 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873838 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873839 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873840 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873841 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873842 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283583 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283584 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283586 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225989 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225990 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225991 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225992 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225993 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225994 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225995 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225996 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225997 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225998 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225999 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH18540 (Get FASTA)   NCBI Sequence Viewer  
  BAB14504 (Get FASTA)   NCBI Sequence Viewer  
  EAW67617 (Get FASTA)   NCBI Sequence Viewer  
  EAW67618 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341684
  ENSP00000341684.5
  ENSP00000435403.1
GenBank Protein Q0P6D6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079280   ⟸   NM_025004
- UniProtKB: Q9H8U7 (UniProtKB/Swiss-Prot),   Q0P6D6 (UniProtKB/Swiss-Prot),   E9PKB1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873835   ⟸   XM_017018346
- Peptide Label: isoform X1
- UniProtKB: E9PKB1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873837   ⟸   XM_017018348
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016873839   ⟸   XM_017018350
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016873840   ⟸   XM_017018351
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016873842   ⟸   XM_017018353
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016873836   ⟸   XM_017018347
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016873841   ⟸   XM_017018352
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016873838   ⟸   XM_017018349
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000435403   ⟸   ENST00000529051
Ensembl Acc Id: ENSP00000341684   ⟸   ENST00000344762
RefSeq Acc Id: XP_047283583   ⟸   XM_047427627
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047283584   ⟸   XM_047427628
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047283586   ⟸   XM_047427630
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054225989   ⟸   XM_054370014
- Peptide Label: isoform X1
- UniProtKB: E9PKB1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225991   ⟸   XM_054370016
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225993   ⟸   XM_054370018
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225994   ⟸   XM_054370019
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225996   ⟸   XM_054370021
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054225998   ⟸   XM_054370023
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054225990   ⟸   XM_054370015
- Peptide Label: isoform X2
- UniProtKB: E9PKB1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054225995   ⟸   XM_054370020
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225999   ⟸   XM_054370024
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054225997   ⟸   XM_054370022
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054225992   ⟸   XM_054370017
- Peptide Label: isoform X4

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q0P6D6-F1-model_v2 AlphaFold Q0P6D6 1-951 view protein structure

Promoters
RGD ID:6788574
Promoter ID:HG_KWN:14501
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_025004
Position:
Human AssemblyChrPosition (strand)Source
Build 3611124,328,311 - 124,329,202 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25798 AgrOrtholog
COSMIC CCDC15 COSMIC
Ensembl Genes ENSG00000149548 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344762 ENTREZGENE
  ENST00000344762.6 UniProtKB/Swiss-Prot
  ENST00000529051.5 UniProtKB/TrEMBL
GTEx ENSG00000149548 GTEx
HGNC ID HGNC:25798 ENTREZGENE
Human Proteome Map CCDC15 Human Proteome Map
InterPro CCDC15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:80071 UniProtKB/Swiss-Prot
NCBI Gene 80071 ENTREZGENE
PANTHER COILED-COIL DOMAIN-CONTAINING PROTEIN 15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR14817 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672175 PharmGKB
UniProt CCD15_HUMAN UniProtKB/Swiss-Prot
  E9PKB1 ENTREZGENE, UniProtKB/TrEMBL
  Q0P6D6 ENTREZGENE
  Q9H8U7 ENTREZGENE
UniProt Secondary Q9H8U7 UniProtKB/Swiss-Prot