CCDC110 (coiled-coil domain containing 110) - Rat Genome Database

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Gene: CCDC110 (coiled-coil domain containing 110) Homo sapiens
Analyze
Symbol: CCDC110
Name: coiled-coil domain containing 110
RGD ID: 1606416
HGNC Page HGNC:28504
Description: Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cancer/testis antigen 52; cancer/testis antigen KM-HN-1; coiled-coil domain-containing protein 110; CT52; KM-HN-1; KMHN1; MGC33607
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
GRCh384185,445,182 - 185,471,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4185,445,182 - 185,471,752 (-)EnsemblGRCh38hg38GRCh38
GRCh374186,366,336 - 186,392,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364186,603,341 - 186,629,871 (-)NCBINCBI36Build 36hg18NCBI36
Celera4183,693,987 - 183,720,463 (-)NCBICelera
Cytogenetic Map4q35.1NCBI
HuRef4182,120,079 - 182,146,758 (-)NCBIHuRef
CHM1_14186,342,774 - 186,369,536 (-)NCBICHM1_1
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component
cytoskeleton  (IBA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15447989   PMID:15489334   PMID:18029348   PMID:18160854   PMID:21145461   PMID:21873635   PMID:25416956   PMID:28514442   PMID:30021884   PMID:33961781  
PMID:34349018   PMID:35156780   PMID:38334954  


Genomics

Comparative Map Data
CCDC110
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384185,445,182 - 185,471,733 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4185,445,182 - 185,471,752 (-)EnsemblGRCh38hg38GRCh38
GRCh374186,366,336 - 186,392,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364186,603,341 - 186,629,871 (-)NCBINCBI36Build 36hg18NCBI36
Celera4183,693,987 - 183,720,463 (-)NCBICelera
Cytogenetic Map4q35.1NCBI
HuRef4182,120,079 - 182,146,758 (-)NCBIHuRef
CHM1_14186,342,774 - 186,369,536 (-)NCBICHM1_1
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBIT2T-CHM13v2.0
Ccdc110
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39846,387,656 - 46,398,643 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl846,387,656 - 46,397,182 (+)EnsemblGRCm39 Ensembl
GRCm38845,934,619 - 45,945,606 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl845,934,619 - 45,944,145 (+)EnsemblGRCm38mm10GRCm38
MGSCv37847,020,003 - 47,029,499 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36847,433,466 - 47,442,962 (+)NCBIMGSCv36mm8
Celera848,617,570 - 48,627,073 (+)NCBICelera
Cytogenetic Map8B1.1NCBI
cM Map825.92NCBI
Ccdc110
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81653,048,305 - 53,069,606 (-)NCBIGRCr8
mRatBN7.21646,315,745 - 46,337,050 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1646,315,745 - 46,337,021 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01649,509,885 - 49,522,094 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1647,151,520 - 47,163,898 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl1649,509,876 - 49,522,341 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01649,236,399 - 49,256,913 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41649,597,036 - 49,610,956 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1644,314,008 - 44,334,950 (-)NCBICelera
Cytogenetic Map16q11NCBI
Ccdc110
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540323,593,235 - 23,619,838 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540323,593,610 - 23,616,959 (+)NCBIChiLan1.0ChiLan1.0
CCDC110
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23183,180,123 - 183,211,362 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14183,528,472 - 183,555,290 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04177,608,169 - 177,634,974 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14189,824,259 - 189,850,789 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4189,824,586 - 189,850,715 (-)Ensemblpanpan1.1panPan2
CCDC110
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11645,158,092 - 45,180,280 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1645,159,502 - 45,193,767 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1645,644,502 - 45,665,563 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01647,372,722 - 47,393,801 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1647,372,776 - 47,409,710 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11645,340,749 - 45,361,812 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01645,953,177 - 45,974,216 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01646,084,958 - 46,105,931 (+)NCBIUU_Cfam_GSD_1.0
Ccdc110
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494334,202,070 - 34,220,385 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365543,889,680 - 3,903,338 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365543,889,921 - 3,903,338 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC110
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1546,491,805 - 46,546,501 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11546,494,535 - 46,503,676 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21553,276,160 - 53,285,276 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC110
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17131,395,027 - 131,421,396 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037111,656,728 - 111,683,365 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc110
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476916,310,048 - 16,328,789 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476916,309,257 - 16,329,154 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC110
42 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000004.11:g.(?_186064507)_(186436064_?)dup duplication Primary dilated cardiomyopathy [RCV000546834] Chr4:186064507..186436064 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss See cases [RCV000050324] Chr4:181579626..186100199 [GRCh38]
Chr4:182500779..187021353 [GRCh37]
Chr4:182737773..187258347 [NCBI36]
Chr4:4q34.3-35.1		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3 copy number gain See cases [RCV000051806] Chr4:182990639..186013514 [GRCh38]
Chr4:183911792..186934668 [GRCh37]
Chr4:184148786..187171662 [NCBI36]
Chr4:4q35.1		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 copy number loss See cases [RCV000053379] Chr4:185074103..189867552 [GRCh38]
Chr4:185995257..190788707 [GRCh37]
Chr4:186232251..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 copy number loss See cases [RCV000053394] Chr4:185351249..189867552 [GRCh38]
Chr4:186272403..190788707 [GRCh37]
Chr4:186509397..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
NM_001114357.1(C4orf47):c.551A>G (p.His184Arg) single nucleotide variant Malignant melanoma [RCV000066366] Chr4:185440556 [GRCh38]
Chr4:186361710 [GRCh37]
Chr4:186598704 [NCBI36]
Chr4:4q35.1		 not provided
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q34.1-35.2(chr4:174150183-188259055)x1 copy number loss See cases [RCV000137925] Chr4:174150183..188259055 [GRCh38]
Chr4:175071334..189180209 [GRCh37]
Chr4:175307909..189417203 [NCBI36]
Chr4:4q34.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q35.1(chr4:185447633-185579529)x3 copy number gain See cases [RCV000140389] Chr4:185447633..185579529 [GRCh38]
Chr4:186368787..186500683 [GRCh37]
Chr4:186605781..186737677 [NCBI36]
Chr4:4q35.1		 likely benign
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184924265-186578389)x3 copy number gain See cases [RCV000141422] Chr4:184924265..186578389 [GRCh38]
Chr4:185845419..187499543 [GRCh37]
Chr4:186082413..187736537 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185290811-187350114)x1 copy number loss See cases [RCV000141727] Chr4:185290811..187350114 [GRCh38]
Chr4:186211965..188271268 [GRCh37]
Chr4:186448959..188508262 [NCBI36]
Chr4:4q35.1-35.2		 likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 copy number loss See cases [RCV000142368] Chr4:168970400..186936738 [GRCh38]
Chr4:169891551..187857892 [GRCh37]
Chr4:170128126..188094886 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1 copy number loss See cases [RCV000148272] Chr4:181579626..186100199 [GRCh38]
Chr4:182500779..187021353 [GRCh37]
Chr4:182737773..187258347 [NCBI36]
Chr4:4q34.3-35.1		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:176270886-190713650)x1 copy number loss See cases [RCV000239790] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178243625-190713650)x1 copy number loss See cases [RCV000239851] Chr4:178243625..190713650 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185941418-189180194)x1 copy number loss See cases [RCV000240072] Chr4:185941418..189180194 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 copy number loss See cases [RCV002292706] Chr4:167779888..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473)x1 copy number loss See cases [RCV000449363] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185253508-190713591)x1 copy number loss See cases [RCV000449221] Chr4:185253508..190713591 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186384099-186515501)x3 copy number gain See cases [RCV000446970] Chr4:186384099..186515501 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190838582)x1 copy number loss See cases [RCV000446613] Chr4:175550289..190838582 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 copy number loss See cases [RCV000446115] Chr4:167413365..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186290688-186799239)x3 copy number gain See cases [RCV000446906] Chr4:186290688..186799239 [GRCh37]
Chr4:4q35.1		 likely benign
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387)x3 copy number gain See cases [RCV000446235] Chr4:185978583..188762387 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4q35.1(chr4:186315908-186392061)x3 copy number gain See cases [RCV000447238] Chr4:186315908..186392061 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 copy number gain See cases [RCV000446531] Chr4:166735148..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:186252440-190713591)x1 copy number loss See cases [RCV000446459] Chr4:186252440..190713591 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175749001-190957473)x1 copy number loss See cases [RCV000445881] Chr4:175749001..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175550289-190957473)x1 copy number loss See cases [RCV000448048] Chr4:175550289..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:185787209-186451149)x3 copy number gain See cases [RCV000447805] Chr4:185787209..186451149 [GRCh37]
Chr4:4q35.1		 likely benign
GRCh37/hg19 4q35.1(chr4:183959053-186858555)x3 copy number gain See cases [RCV000448219] Chr4:183959053..186858555 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:184852835-190957473)x1 copy number loss See cases [RCV000512074] Chr4:184852835..190957473 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 copy number gain See cases [RCV000510222] Chr4:166436844..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185958310-189223175)x3 copy number gain See cases [RCV000510660] Chr4:185958310..189223175 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:185979169-186790163)x3 copy number gain See cases [RCV000511113] Chr4:185979169..186790163 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:176306103-190957473)x3 copy number gain See cases [RCV000511078] Chr4:176306103..190957473 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:184870144-186592638)x3 copy number gain See cases [RCV000510983] Chr4:184870144..186592638 [GRCh37]
Chr4:4q35.1		 likely benign
GRCh37/hg19 4q35.1-35.2(chr4:186349585-190957473)x1 copy number loss See cases [RCV000510959] Chr4:186349585..190957473 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_152775.4(CCDC110):c.212T>G (p.Met71Arg) single nucleotide variant not specified [RCV004292488] Chr4:185462668 [GRCh38]
Chr4:186383822 [GRCh37]
Chr4:4q35.1		 uncertain significance
NC_000004.12:g.(?_185143353)_(185535454_?)del deletion Primary dilated cardiomyopathy [RCV000629186] Chr4:185143353..185535454 [GRCh38]
Chr4:186064507..186456608 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:180702769-190957473)x3 copy number gain See cases [RCV000512153] Chr4:180702769..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169969014-190957473)x1 copy number loss not provided [RCV000682484] Chr4:169969014..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175709188-190957473)x1 copy number loss not provided [RCV000682492] Chr4:175709188..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178771936-190957473)x3 copy number gain not provided [RCV000682495] Chr4:178771936..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185017749-190957473)x3 copy number gain not provided [RCV000682497] Chr4:185017749..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186137605-186403683)x3 copy number gain not provided [RCV000682498] Chr4:186137605..186403683 [GRCh37]
Chr4:4q35.1		 likely benign
Single allele deletion not provided [RCV000677918] Chr4:176270886..190713650 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.2-35.2(chr4:176493246-190957473)x1 copy number loss not provided [RCV000682493] Chr4:176493246..190957473 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
Single allele duplication Autism [RCV000754289] Chr4:185324779..188495308 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:183157313-191028879)x1 copy number loss not provided [RCV000744206] Chr4:183157313..191028879 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184040122-187880098)x3 copy number gain not provided [RCV000744219] Chr4:184040122..187880098 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185137253-190915650)x1 copy number loss not provided [RCV000744226] Chr4:185137253..190915650 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186309757-186381115)x3 copy number gain not provided [RCV000744234] Chr4:186309757..186381115 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1(chr4:186335706-186522043)x3 copy number gain not provided [RCV000744235] Chr4:186335706..186522043 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4q35.1(chr4:186372826-186522043)x3 copy number gain not provided [RCV000744236] Chr4:186372826..186522043 [GRCh37]
Chr4:4q35.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q33-35.2(chr4:171663620-190431429) copy number loss not provided [RCV000767673] Chr4:171663620..190431429 [GRCh37]
Chr4:4q33-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545) copy number loss not provided [RCV000767793] Chr4:174610492..190427545 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:179996712-190957473)x1 copy number loss not provided [RCV000849865] Chr4:179996712..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:185399884-186542127)x3 copy number gain not provided [RCV000849196] Chr4:185399884..186542127 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.2-35.2(chr4:177189906-190816266)x1 copy number loss not provided [RCV000846268] Chr4:177189906..190816266 [GRCh37]
Chr4:4q34.2-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 copy number loss not provided [RCV000845722] Chr4:166623890..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183245174-190948359)x1 copy number loss not provided [RCV000998343] Chr4:183245174..190948359 [GRCh37]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh37/hg19 4q35.1(chr4:186031029-186490645)x3 copy number gain not provided [RCV000849688] Chr4:186031029..186490645 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:186260521-186402695)x3 copy number gain not provided [RCV000849340] Chr4:186260521..186402695 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q34.3-35.2(chr4:178566256-190957473)x1 copy number loss not provided [RCV001005626] Chr4:178566256..190957473 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 copy number gain not provided [RCV000847360] Chr4:169607746..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:184648532-190957473)x1 copy number loss not provided [RCV000846185] Chr4:184648532..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186210279-186578562)x3 copy number gain not provided [RCV001005634] Chr4:186210279..186578562 [GRCh37]
Chr4:4q35.1		 likely benign|uncertain significance
GRCh37/hg19 4q35.1(chr4:186156239-186787416)x3 copy number gain not provided [RCV000847452] Chr4:186156239..186787416 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1889T>C (p.Leu630Pro) single nucleotide variant not specified [RCV004326482] Chr4:185458698 [GRCh38]
Chr4:186379852 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.851C>G (p.Ser284Cys) single nucleotide variant not specified [RCV004299857] Chr4:185459736 [GRCh38]
Chr4:186380890 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:186386586-186811571)x1 copy number loss not provided [RCV001005636] Chr4:186386586..186811571 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179752903-187987047)x3 copy number gain not provided [RCV001005627] Chr4:179752903..187987047 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186359991-186645190)x3 copy number gain not provided [RCV001005635] Chr4:186359991..186645190 [GRCh37]
Chr4:4q35.1		 likely benign
GRCh37/hg19 4q35.1-35.2(chr4:185785184-188207908)x3 copy number gain not provided [RCV001005631] Chr4:185785184..188207908 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
NM_152775.4(CCDC110):c.871A>C (p.Met291Leu) single nucleotide variant not specified [RCV004609808] Chr4:185459716 [GRCh38]
Chr4:186380870 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1043T>G (p.Met348Arg) single nucleotide variant not specified [RCV004609809] Chr4:185459544 [GRCh38]
Chr4:186380698 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q34.3-35.2(chr4:179554876-190916678) copy number loss Atypical behavior [RCV001291982] Chr4:179554876..190916678 [GRCh37]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183221828-190957473) copy number loss not specified [RCV002053473] Chr4:183221828..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:175855408-190957473) copy number gain not specified [RCV002053471] Chr4:175855408..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185381293-190957473) copy number loss not specified [RCV002053475] Chr4:185381293..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:185978583-188762387) copy number gain not specified [RCV002053476] Chr4:185978583..188762387 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
NC_000004.11:g.(?_186387457)_(186429460_?)del deletion Primary dilated cardiomyopathy [RCV001918923] Chr4:186387457..186429460 [GRCh37]
Chr4:4q35.1		 uncertain significance
NC_000004.11:g.(?_186064527)_(187630981_?)del deletion Herpes simplex encephalitis, susceptibility to, 1 [RCV001877781]|not provided [RCV003120734] Chr4:186064527..187630981 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 4q35.1-35.2(chr4:185211271-190957473)x1 copy number loss See cases [RCV002292211] Chr4:185211271..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.2(chr4:174944132-190957473)x1 copy number loss FETAL DEMISE [RCV002282976] Chr4:174944132..190957473 [GRCh37]
Chr4:4q34.1-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:186386587-186811571)x1 copy number loss not provided [RCV002474602] Chr4:186386587..186811571 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1(chr4:186160654-186422579)x1 copy number loss not provided [RCV002473763] Chr4:186160654..186422579 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q35.1-35.2(chr4:185748860-188413920)x1 copy number loss not provided [RCV002472580] Chr4:185748860..188413920 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
GRCh37/hg19 4q35.1-35.2(chr4:183694501-190957473)x1 copy number loss not provided [RCV002472626] Chr4:183694501..190957473 [GRCh37]
Chr4:4q35.1-35.2		 pathogenic
NM_152775.4(CCDC110):c.2219C>A (p.Thr740Asn) single nucleotide variant not specified [RCV004609807] Chr4:185458368 [GRCh38]
Chr4:186379522 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1525A>G (p.Lys509Glu) single nucleotide variant not specified [RCV004201921] Chr4:185459062 [GRCh38]
Chr4:186380216 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1138T>C (p.Tyr380His) single nucleotide variant not specified [RCV004204792] Chr4:185459449 [GRCh38]
Chr4:186380603 [GRCh37]
Chr4:4q35.1		 likely benign
NM_152775.4(CCDC110):c.1418T>C (p.Val473Ala) single nucleotide variant not specified [RCV004241290] Chr4:185459169 [GRCh38]
Chr4:186380323 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.625C>A (p.Pro209Thr) single nucleotide variant not specified [RCV004111587] Chr4:185459962 [GRCh38]
Chr4:186381116 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2089A>G (p.Ile697Val) single nucleotide variant not specified [RCV004136837] Chr4:185458498 [GRCh38]
Chr4:186379652 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.604C>T (p.Arg202Cys) single nucleotide variant not specified [RCV004230099] Chr4:185459983 [GRCh38]
Chr4:186381137 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.332G>A (p.Arg111His) single nucleotide variant not specified [RCV004230007] Chr4:185461065 [GRCh38]
Chr4:186382219 [GRCh37]
Chr4:4q35.1		 likely benign
NM_152775.4(CCDC110):c.619G>A (p.Ala207Thr) single nucleotide variant not specified [RCV004117582] Chr4:185459968 [GRCh38]
Chr4:186381122 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.599T>A (p.Phe200Tyr) single nucleotide variant not specified [RCV004157310] Chr4:185459988 [GRCh38]
Chr4:186381142 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2413G>A (p.Glu805Lys) single nucleotide variant not specified [RCV004203751] Chr4:185458174 [GRCh38]
Chr4:186379328 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.148A>C (p.Ile50Leu) single nucleotide variant not specified [RCV004206763] Chr4:185463017 [GRCh38]
Chr4:186384171 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1234G>A (p.Glu412Lys) single nucleotide variant not specified [RCV004201252] Chr4:185459353 [GRCh38]
Chr4:186380507 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_001114357.3(CFAP96):c.916G>C (p.Val306Leu) single nucleotide variant not specified [RCV004550562] Chr4:185449630 [GRCh38]
Chr4:186370784 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2294G>A (p.Arg765Gln) single nucleotide variant not specified [RCV004237012] Chr4:185458293 [GRCh38]
Chr4:186379447 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2415A>T (p.Glu805Asp) single nucleotide variant not specified [RCV004087762] Chr4:185458172 [GRCh38]
Chr4:186379326 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2497C>T (p.His833Tyr) single nucleotide variant not specified [RCV004270778] Chr4:185445507 [GRCh38]
Chr4:186366661 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2123T>C (p.Val708Ala) single nucleotide variant not specified [RCV004253893] Chr4:185458464 [GRCh38]
Chr4:186379618 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1874C>T (p.Thr625Met) single nucleotide variant not specified [RCV004258942] Chr4:185458713 [GRCh38]
Chr4:186379867 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.193T>G (p.Ser65Ala) single nucleotide variant not specified [RCV004323400] Chr4:185462687 [GRCh38]
Chr4:186383841 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1671G>T (p.Met557Ile) single nucleotide variant not specified [RCV004345428] Chr4:185458916 [GRCh38]
Chr4:186380070 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1364T>G (p.Leu455Arg) single nucleotide variant not specified [RCV004357757] Chr4:185459223 [GRCh38]
Chr4:186380377 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2275A>G (p.Thr759Ala) single nucleotide variant not specified [RCV004359274] Chr4:185458312 [GRCh38]
Chr4:186379466 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 copy number gain not provided [RCV003484595] Chr4:167409608..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q35.1(chr4:185978584-186403683)x3 copy number gain not provided [RCV003484598] Chr4:185978584..186403683 [GRCh37]
Chr4:4q35.1		 uncertain significance
Single allele deletion not provided [RCV003448667] Chr4:180937545..190915069 [GRCh37]
Chr4:4q34.3-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q34.1-35.1(chr4:175496275-186495932)x1 copy number loss not specified [RCV003986504] Chr4:175496275..186495932 [GRCh37]
Chr4:4q34.1-35.1		 pathogenic
GRCh37/hg19 4q35.1(chr4:184577681-186368031)x3 copy number gain not specified [RCV003986502] Chr4:184577681..186368031 [GRCh37]
Chr4:4q35.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 copy number loss not provided [RCV003885510] Chr4:169060637..191154276 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
NM_152775.4(CCDC110):c.1468A>G (p.Ile490Val) single nucleotide variant not specified [RCV004432622] Chr4:185459119 [GRCh38]
Chr4:186380273 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.263T>C (p.Leu88Ser) single nucleotide variant not specified [RCV004432631] Chr4:185461134 [GRCh38]
Chr4:186382288 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1108G>A (p.Asp370Asn) single nucleotide variant not specified [RCV004432620] Chr4:185459479 [GRCh38]
Chr4:186380633 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1258G>A (p.Val420Ile) single nucleotide variant not specified [RCV004432621] Chr4:185459329 [GRCh38]
Chr4:186380483 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1588A>G (p.Ile530Val) single nucleotide variant not specified [RCV004432624] Chr4:185458999 [GRCh38]
Chr4:186380153 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2017G>A (p.Glu673Lys) single nucleotide variant not specified [RCV004432626] Chr4:185458570 [GRCh38]
Chr4:186379724 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.67A>C (p.Ile23Leu) single nucleotide variant not specified [RCV004432635] Chr4:185470993 [GRCh38]
Chr4:186392147 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2167A>G (p.Lys723Glu) single nucleotide variant not specified [RCV004432627] Chr4:185458420 [GRCh38]
Chr4:186379574 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.227A>G (p.Asn76Ser) single nucleotide variant not specified [RCV004432628] Chr4:185462653 [GRCh38]
Chr4:186383807 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.910A>C (p.Asn304His) single nucleotide variant not specified [RCV004432637] Chr4:185459677 [GRCh38]
Chr4:186380831 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1670T>C (p.Met557Thr) single nucleotide variant not specified [RCV004432625] Chr4:185458917 [GRCh38]
Chr4:186380071 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.901G>A (p.Gly301Ser) single nucleotide variant not specified [RCV004432636] Chr4:185459686 [GRCh38]
Chr4:186380840 [GRCh37]
Chr4:4q35.1		 likely benign
NM_152775.4(CCDC110):c.2480A>G (p.Asp827Gly) single nucleotide variant not specified [RCV004432630] Chr4:185445524 [GRCh38]
Chr4:186366678 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.499G>A (p.Glu167Lys) single nucleotide variant not specified [RCV004432633] Chr4:185460088 [GRCh38]
Chr4:186381242 [GRCh37]
Chr4:4q35.1		 likely benign
NM_152775.4(CCDC110):c.515T>G (p.Leu172Arg) single nucleotide variant not specified [RCV004432634] Chr4:185460072 [GRCh38]
Chr4:186381226 [GRCh37]
Chr4:4q35.1		 uncertain significance
NC_000004.11:g.(?_186064502)_(187630981_?)dup duplication not provided [RCV004580822] Chr4:186064502..187630981 [GRCh37]
Chr4:4q35.1-35.2		 uncertain significance
NC_000004.11:g.(?_186387458)_(186429460_?)del deletion Primary dilated cardiomyopathy [RCV004580685] Chr4:186387458..186429460 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.2012C>T (p.Thr671Ile) single nucleotide variant not specified [RCV004602792] Chr4:185458575 [GRCh38]
Chr4:186379729 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.1697G>A (p.Arg566Gln) single nucleotide variant not specified [RCV004602790] Chr4:185458890 [GRCh38]
Chr4:186380044 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.8C>T (p.Pro3Leu) single nucleotide variant not specified [RCV004602791] Chr4:185471676 [GRCh38]
Chr4:186392830 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.388A>G (p.Ser130Gly) single nucleotide variant not specified [RCV004432632] Chr4:185460199 [GRCh38]
Chr4:186381353 [GRCh37]
Chr4:4q35.1		 uncertain significance
NM_152775.4(CCDC110):c.245C>T (p.Ser82Leu) single nucleotide variant not specified [RCV004432629] Chr4:185461152 [GRCh38]
Chr4:186382306 [GRCh37]
Chr4:4q35.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:927
Count of miRNA genes:515
Interacting mature miRNAs:555
Transcripts:ENST00000307588, ENST00000393540, ENST00000504020, ENST00000506876, ENST00000506962, ENST00000507501, ENST00000508538, ENST00000510481, ENST00000510617
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
407232126GWAS881102_Hbone density QTL GWAS881102 (human)2e-76bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4185450279185450280Human
2292972PRSTS190_HProstate tumor susceptibility QTL 190 (human)4.130.0018Prostate tumor susceptibility4175186665190214555Human

Markers in Region
STS-H64141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374186,370,801 - 186,370,934UniSTSGRCh37
Build 364186,607,795 - 186,607,928RGDNCBI36
Celera4183,698,451 - 183,698,584RGD
Cytogenetic Map4q35.1UniSTS
HuRef4182,124,541 - 182,124,674UniSTS
GeneMap99-GB4 RH Map4683.27UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1198 2396 2784 2232 4919 1697 2302 4 600 1466 442 2253 6746 5956 44 3694 838 1717 1591 168

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054349562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_427540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB080722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI949455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU567268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB453450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307588   ⟹   ENSP00000306776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,445,182 - 185,471,733 (-)Ensembl
Ensembl Acc Id: ENST00000393540   ⟹   ENSP00000377172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,445,182 - 185,471,694 (-)Ensembl
Ensembl Acc Id: ENST00000504020   ⟹   ENSP00000425547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,461,083 - 185,471,702 (-)Ensembl
Ensembl Acc Id: ENST00000506876   ⟹   ENSP00000425276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,459,874 - 185,471,699 (-)Ensembl
Ensembl Acc Id: ENST00000506962   ⟹   ENSP00000485145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,460,032 - 185,471,104 (-)Ensembl
Ensembl Acc Id: ENST00000507501   ⟹   ENSP00000485309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,459,926 - 185,471,103 (-)Ensembl
Ensembl Acc Id: ENST00000508538   ⟹   ENSP00000424878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,445,485 - 185,458,366 (-)Ensembl
Ensembl Acc Id: ENST00000510481   ⟹   ENSP00000424520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,459,812 - 185,471,752 (-)Ensembl
Ensembl Acc Id: ENST00000510617   ⟹   ENSP00000427246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,457,746 - 185,471,744 (-)Ensembl
Ensembl Acc Id: ENST00000651260   ⟹   ENSP00000498373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4185,445,182 - 185,471,752 (-)Ensembl
RefSeq Acc Id: NM_001145411   ⟹   NP_001138883
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,445,182 - 185,471,733 (-)NCBI
GRCh374186,366,336 - 186,392,913 (-)RGD
Celera4183,693,987 - 183,720,463 (-)RGD
HuRef4182,120,079 - 182,146,758 (-)RGD
CHM1_14186,342,774 - 186,369,536 (-)NCBI
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152775   ⟹   NP_689988
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,445,182 - 185,471,733 (-)NCBI
GRCh374186,366,336 - 186,392,913 (-)RGD
Build 364186,603,341 - 186,629,871 (-)NCBI Archive
Celera4183,693,987 - 183,720,463 (-)RGD
HuRef4182,120,079 - 182,146,758 (-)RGD
CHM1_14186,342,774 - 186,369,536 (-)NCBI
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262891   ⟹   XP_005262948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,457,742 - 185,471,733 (-)NCBI
GRCh374186,366,336 - 186,392,913 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006714172   ⟹   XP_006714235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,445,182 - 185,471,733 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531827   ⟹   XP_011530129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,456,319 - 185,471,733 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531828   ⟹   XP_011530130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,457,156 - 185,471,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054349559   ⟹   XP_054205534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04188,799,599 - 188,815,286 (-)NCBI
RefSeq Acc Id: XM_054349560   ⟹   XP_054205535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04188,800,436 - 188,814,302 (-)NCBI
RefSeq Acc Id: XM_054349561   ⟹   XP_054205536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBI
RefSeq Acc Id: XM_054349562   ⟹   XP_054205537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04188,801,007 - 188,815,286 (-)NCBI
RefSeq Acc Id: XR_002959722
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,445,182 - 185,471,733 (-)NCBI
Sequence:
RefSeq Acc Id: XR_008486961
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBI
RefSeq Acc Id: XR_008486962
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04188,788,463 - 188,815,286 (-)NCBI
RefSeq Acc Id: XR_427540
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,445,182 - 185,471,733 (-)NCBI
Sequence:
RefSeq Acc Id: NP_689988   ⟸   NM_152775
- Peptide Label: isoform a
- UniProtKB: Q86YI9 (UniProtKB/Swiss-Prot),   Q8N7W0 (UniProtKB/Swiss-Prot),   Q8TBZ0 (UniProtKB/Swiss-Prot),   B4DZA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138883   ⟸   NM_001145411
- Peptide Label: isoform b
- UniProtKB: B4DZA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262948   ⟸   XM_005262891
- Peptide Label: isoform X4
- UniProtKB: E7EUS2 (UniProtKB/TrEMBL),   A0A494C037 (UniProtKB/TrEMBL),   B4DZA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714235   ⟸   XM_006714172
- Peptide Label: isoform X3
- UniProtKB: A0A494C037 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530130   ⟸   XM_011531828
- Peptide Label: isoform X2
- UniProtKB: B4DZA2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011530129   ⟸   XM_011531827
- Peptide Label: isoform X1
- UniProtKB: B4DZA2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000306776   ⟸   ENST00000307588
Ensembl Acc Id: ENSP00000425547   ⟸   ENST00000504020
Ensembl Acc Id: ENSP00000485145   ⟸   ENST00000506962
Ensembl Acc Id: ENSP00000425276   ⟸   ENST00000506876
Ensembl Acc Id: ENSP00000485309   ⟸   ENST00000507501
Ensembl Acc Id: ENSP00000424878   ⟸   ENST00000508538
Ensembl Acc Id: ENSP00000498373   ⟸   ENST00000651260
Ensembl Acc Id: ENSP00000427246   ⟸   ENST00000510617
Ensembl Acc Id: ENSP00000424520   ⟸   ENST00000510481
Ensembl Acc Id: ENSP00000377172   ⟸   ENST00000393540
RefSeq Acc Id: XP_054205536   ⟸   XM_054349561
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054205534   ⟸   XM_054349559
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054205535   ⟸   XM_054349560
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054205537   ⟸   XM_054349562
- Peptide Label: isoform X4
- UniProtKB: E7EUS2 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TBZ0-F1-model_v2 AlphaFold Q8TBZ0 1-833 view protein structure

Promoters
RGD ID:6869048
Promoter ID:EPDNEW_H7689
Type:initiation region
Name:CCDC110_1
Description:coiled-coil domain containing 110
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7690  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,471,103 - 185,471,163EPDNEW
RGD ID:6869050
Promoter ID:EPDNEW_H7690
Type:initiation region
Name:CCDC110_2
Description:coiled-coil domain containing 110
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7689  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384185,471,752 - 185,471,812EPDNEW
RGD ID:6814721
Promoter ID:HG_XEF:6215
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001033246
Position:
Human AssemblyChrPosition (strand)Source
Build 364186,628,891 - 186,629,391 (-)MPROMDB
RGD ID:6802106
Promoter ID:HG_KWN:49600
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001145411,   NM_152775
Position:
Human AssemblyChrPosition (strand)Source
Build 364186,629,596 - 186,630,096 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28504 AgrOrtholog
COSMIC CCDC110 COSMIC
Ensembl Genes ENSG00000168491 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307588 ENTREZGENE
  ENST00000307588.8 UniProtKB/Swiss-Prot
  ENST00000393540 ENTREZGENE
  ENST00000393540.7 UniProtKB/Swiss-Prot
  ENST00000504020.2 UniProtKB/TrEMBL
  ENST00000506876.5 UniProtKB/TrEMBL
  ENST00000506962.3 UniProtKB/TrEMBL
  ENST00000507501.5 UniProtKB/TrEMBL
  ENST00000508538.1 UniProtKB/TrEMBL
  ENST00000510481.5 UniProtKB/TrEMBL
  ENST00000510617 ENTREZGENE
  ENST00000510617.5 UniProtKB/TrEMBL
  ENST00000651260 ENTREZGENE
  ENST00000651260.1 UniProtKB/TrEMBL
GTEx ENSG00000168491 GTEx
HGNC ID HGNC:28504 ENTREZGENE
Human Proteome Map CCDC110 Human Proteome Map
KEGG Report hsa:256309 UniProtKB/Swiss-Prot
NCBI Gene 256309 ENTREZGENE
OMIM 609488 OMIM
PANTHER CILIA AND FLAGELLA-ASSOCIATED PROTEIN 58-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COILED-COIL DOMAIN-CONTAINING PROTEIN 110 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162381283 PharmGKB
UniProt A0A096LNP5_HUMAN UniProtKB/TrEMBL
  A0A096LNZ5_HUMAN UniProtKB/TrEMBL
  A0A494C037 ENTREZGENE, UniProtKB/TrEMBL
  B4DZA2 ENTREZGENE, UniProtKB/TrEMBL
  CC110_HUMAN UniProtKB/Swiss-Prot
  D6RB18_HUMAN UniProtKB/TrEMBL
  D6RCR3_HUMAN UniProtKB/TrEMBL
  D6RDN4_HUMAN UniProtKB/TrEMBL
  E7EUS2 ENTREZGENE, UniProtKB/TrEMBL
  H0Y9S3_HUMAN UniProtKB/TrEMBL
  Q86YI9 ENTREZGENE
  Q8N7W0 ENTREZGENE
  Q8TBZ0 ENTREZGENE
UniProt Secondary Q86YI9 UniProtKB/Swiss-Prot
  Q8N7W0 UniProtKB/Swiss-Prot