CCDC85C (coiled-coil domain containing 85C) - Rat Genome Database

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Gene: CCDC85C (coiled-coil domain containing 85C) Homo sapiens
Analyze
Symbol: CCDC85C
Name: coiled-coil domain containing 85C
RGD ID: 1344482
HGNC Page HGNC:35459
Description: Predicted to be involved in cerebral cortex development. Located in adherens junction.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: coiled-coil domain-containing protein 85C; FLJ22558; MGC117455
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381499,500,190 - 99,604,207 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1499,500,190 - 99,604,207 (-)EnsemblGRCh38hg38GRCh38
GRCh371499,966,527 - 100,070,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361499,046,540 - 99,140,110 (-)NCBINCBI36Build 36hg18NCBI36
Celera1480,032,485 - 80,125,607 (-)NCBICelera
Cytogenetic Map14q32.2NCBI
HuRef1480,161,003 - 80,254,066 (-)NCBIHuRef
CHM1_11499,915,361 - 100,008,351 (-)NCBICHM1_1
T2T-CHM13v2.01493,731,756 - 93,835,650 (-)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

References

References - curated
# Reference Title Reference Citation
1. Pathological characteristics of Ccdc85c knockout rats: a rat model of genetic hydrocephalus. Konishi S, etal., Exp Anim. 2020 Jan 29;69(1):26-33. doi: 10.1538/expanim.19-0005. Epub 2019 Jul 23.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11181995   PMID:12477932   PMID:12508121   PMID:14702039   PMID:15489334   PMID:16344560   PMID:20360068   PMID:21873635   PMID:24255178   PMID:24366813   PMID:25009281   PMID:25071155  
PMID:25416956   PMID:25468996   PMID:25649651   PMID:25796446   PMID:26186194   PMID:26638075   PMID:26673895   PMID:26933062   PMID:26972000   PMID:27173435   PMID:27880917   PMID:28330616  
PMID:28514442   PMID:28611215   PMID:28718761   PMID:29117863   PMID:29180619   PMID:29395067   PMID:29507755   PMID:29669786   PMID:30472188   PMID:30865227   PMID:31091453   PMID:31340145  
PMID:31762063   PMID:31871319   PMID:33853758   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34702444   PMID:34711951   PMID:35140242  


Genomics

Comparative Map Data
CCDC85C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381499,500,190 - 99,604,207 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1499,500,190 - 99,604,207 (-)EnsemblGRCh38hg38GRCh38
GRCh371499,966,527 - 100,070,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361499,046,540 - 99,140,110 (-)NCBINCBI36Build 36hg18NCBI36
Celera1480,032,485 - 80,125,607 (-)NCBICelera
Cytogenetic Map14q32.2NCBI
HuRef1480,161,003 - 80,254,066 (-)NCBIHuRef
CHM1_11499,915,361 - 100,008,351 (-)NCBICHM1_1
T2T-CHM13v2.01493,731,756 - 93,835,650 (-)NCBIT2T-CHM13v2.0
Ccdc85c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912108,169,858 - 108,244,111 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12108,169,861 - 108,241,684 (-)EnsemblGRCm39 Ensembl
GRCm3812108,203,599 - 108,277,852 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12108,203,602 - 108,275,425 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712109,444,555 - 109,513,627 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612108,654,152 - 108,723,483 (-)NCBIMGSCv36mm8
Celera12109,446,564 - 109,515,546 (-)NCBICelera
Cytogenetic Map12F1NCBI
Ccdc85c
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26127,113,440 - 127,184,328 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6127,113,442 - 127,184,371 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.06132,113,806 - 132,183,434 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.06141,284,186 - 141,353,658 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46132,572,485 - 132,641,431 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera6124,672,684 - 124,742,377 (-)NCBICelera
Cytogenetic Map6q32NCBI
Ccdc85c
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543820,853,560 - 20,909,510 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543820,851,085 - 20,909,512 (-)NCBIChiLan1.0ChiLan1.0
CCDC85C
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11499,458,198 - 99,550,546 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01480,134,889 - 80,229,717 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
CCDC85C
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1867,930,372 - 68,006,689 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl867,929,555 - 68,004,891 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha867,450,734 - 67,528,156 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0868,214,408 - 68,291,855 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl868,215,298 - 68,292,190 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1867,875,375 - 67,952,761 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0867,941,872 - 68,019,111 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0868,338,989 - 68,416,468 (-)NCBIUU_Cfam_GSD_1.0
Ccdc85c
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244086406,693,763 - 6,765,570 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366043,319,799 - 3,388,781 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049366043,316,898 - 3,388,687 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCDC85C
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7120,514,491 - 120,597,318 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17120,514,488 - 120,597,409 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27128,124,329 - 128,148,522 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CCDC85C
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12477,470,947 - 77,560,425 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2477,471,048 - 77,560,331 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605364,606,196 - 64,701,019 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccdc85c
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247344,310,607 - 4,366,209 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247344,310,662 - 4,366,209 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCDC85C
5 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5838
Count of miRNA genes:1144
Interacting mature miRNAs:1453
Transcripts:ENST00000380243, ENST00000554877, ENST00000554996, ENST00000555822, ENST00000556348, ENST00000557576, ENST00000557769
Prediction methods:Microtar, Miranda, Rnahybrid
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.

Markers in Region
G35787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714100,034,194 - 100,034,296UniSTSGRCh37
Build 361499,103,947 - 99,104,049RGDNCBI36
Celera1480,089,074 - 80,089,176RGD
Cytogenetic Map14q32.31UniSTS
HuRef1480,217,629 - 80,217,731UniSTS
RH1621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,977,670 - 99,977,803UniSTSGRCh37
Build 361499,047,423 - 99,047,556RGDNCBI36
Celera1480,032,552 - 80,032,685RGD
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map14q32UniSTS
HuRef1480,161,070 - 80,161,203UniSTS
GeneMap99-GB4 RH Map14287.44UniSTS
NCBI RH Map141067.4UniSTS
G35001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,977,280 - 99,977,552UniSTSGRCh37
Build 361499,047,033 - 99,047,305RGDNCBI36
Celera1480,032,162 - 80,032,434RGD
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map14q32UniSTS
HuRef1480,160,680 - 80,160,952UniSTS
RH102112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,978,732 - 99,978,903UniSTSGRCh37
Build 361499,048,485 - 99,048,656RGDNCBI36
Celera1480,033,614 - 80,033,785RGD
Cytogenetic Map14q32.31UniSTS
HuRef1480,162,132 - 80,162,303UniSTS
GeneMap99-GB4 RH Map14273.06UniSTS
D14S90E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714100,068,034 - 100,068,127UniSTSGRCh37
GRCh3714100,067,946 - 100,068,106UniSTSGRCh37
Build 361499,137,787 - 99,137,880RGDNCBI36
Celera1480,122,914 - 80,123,007RGD
Celera1480,122,826 - 80,122,986UniSTS
Cytogenetic Map14q32.31UniSTS
HuRef1480,251,621 - 80,251,781UniSTS
HuRef1480,251,709 - 80,251,802UniSTS
Stanford-G3 RH Map143658.0UniSTS
NCBI RH Map141076.8UniSTS
GeneMap99-G3 RH Map144207.0UniSTS
RH44755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,979,907 - 99,980,030UniSTSGRCh37
Build 361499,049,660 - 99,049,783RGDNCBI36
Celera1480,034,789 - 80,034,912RGD
Cytogenetic Map14q32.31UniSTS
HuRef1480,163,307 - 80,163,430UniSTS
GeneMap99-GB4 RH Map14273.16UniSTS
NCBI RH Map141089.8UniSTS
CCNK_1614.3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,977,174 - 99,977,869UniSTSGRCh37
Build 361499,046,927 - 99,047,622RGDNCBI36
Celera1480,032,056 - 80,032,751RGD
HuRef1480,160,574 - 80,161,269UniSTS
A009Y14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,977,429 - 99,977,624UniSTSGRCh37
Build 361499,047,182 - 99,047,377RGDNCBI36
Celera1480,032,311 - 80,032,506RGD
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map14q32UniSTS
HuRef1480,160,829 - 80,161,024UniSTS
GeneMap99-GB4 RH Map14273.06UniSTS
RH69937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,977,421 - 99,977,541UniSTSGRCh37
Build 361499,047,174 - 99,047,294RGDNCBI36
Celera1480,032,303 - 80,032,423RGD
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map14q32UniSTS
HuRef1480,160,821 - 80,160,941UniSTS
GeneMap99-GB4 RH Map14273.06UniSTS
G35350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714100,022,765 - 100,022,893UniSTSGRCh37
Build 361499,092,518 - 99,092,646RGDNCBI36
Celera1480,077,648 - 80,077,776RGD
Cytogenetic Map14q32.31UniSTS
HuRef1480,206,193 - 80,206,321UniSTS
AFMB048YF1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3714100,010,772 - 100,010,986UniSTSGRCh37
Build 361499,080,525 - 99,080,739RGDNCBI36
Celera1480,065,658 - 80,065,872RGD
Cytogenetic Map14q32.31UniSTS
HuRef1480,194,203 - 80,194,417UniSTS
Whitehead-YAC Contig Map14 UniSTS
G32976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371499,977,429 - 99,977,624UniSTSGRCh37
Celera1480,032,311 - 80,032,506UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q32.31UniSTS
HuRef1480,160,829 - 80,161,024UniSTS
D14S90E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q32.31UniSTS
Stanford-G3 RH Map143658.0UniSTS
NCBI RH Map141076.8UniSTS
GeneMap99-G3 RH Map144207.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 530 12 160 49 43 51 523 169 554 89 314 402 11 1 8 239 2 1
Low 1909 2855 1564 573 1739 412 3832 1993 3176 328 1146 1211 164 1196 2547 4 1
Below cutoff 124 2 2 169 2 2 35 4 2 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000380243   ⟹   ENSP00000369592
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,500,190 - 99,604,207 (-)Ensembl
RefSeq Acc Id: ENST00000554877   ⟹   ENSP00000452300
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,515,300 - 99,576,592 (-)Ensembl
RefSeq Acc Id: ENST00000554996   ⟹   ENSP00000451294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,515,200 - 99,580,126 (-)Ensembl
RefSeq Acc Id: ENST00000555822   ⟹   ENSP00000450602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,515,087 - 99,522,945 (-)Ensembl
RefSeq Acc Id: ENST00000556348   ⟹   ENSP00000451718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,516,265 - 99,572,975 (-)Ensembl
RefSeq Acc Id: ENST00000557576   ⟹   ENSP00000452496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,514,961 - 99,536,088 (-)Ensembl
RefSeq Acc Id: ENST00000557769   ⟹   ENSP00000450850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1499,512,032 - 99,522,563 (-)Ensembl
RefSeq Acc Id: NM_001144995   ⟹   NP_001138467
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381499,500,190 - 99,604,207 (-)NCBI
GRCh371499,977,603 - 100,070,727 (-)RGD
Celera1480,032,485 - 80,125,607 (-)RGD
HuRef1480,161,003 - 80,254,066 (-)ENTREZGENE
CHM1_11499,915,361 - 100,008,351 (-)NCBI
T2T-CHM13v2.01493,731,756 - 93,835,650 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536706   ⟹   XP_011535008
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381499,524,541 - 99,604,207 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536707   ⟹   XP_011535009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381499,526,287 - 99,604,207 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431328   ⟹   XP_047287284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381499,524,541 - 99,604,207 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001138467   ⟸   NM_001144995
- UniProtKB: A6NKD9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011535008   ⟸   XM_011536706
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011535009   ⟸   XM_011536707
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000450602   ⟸   ENST00000555822
RefSeq Acc Id: ENSP00000451718   ⟸   ENST00000556348
RefSeq Acc Id: ENSP00000450850   ⟸   ENST00000557769
RefSeq Acc Id: ENSP00000452496   ⟸   ENST00000557576
RefSeq Acc Id: ENSP00000369592   ⟸   ENST00000380243
RefSeq Acc Id: ENSP00000451294   ⟸   ENST00000554996
RefSeq Acc Id: ENSP00000452300   ⟸   ENST00000554877
RefSeq Acc Id: XP_047287284   ⟸   XM_047431328
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NKD9-F1-model_v2 AlphaFold A6NKD9 1-419 view protein structure

Promoters
RGD ID:6791355
Promoter ID:HG_KWN:20151
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001144995
Position:
Human AssemblyChrPosition (strand)Source
Build 361499,139,741 - 99,141,452 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001099402.2(CCNK):c.736G>A (p.Val246Ile) single nucleotide variant Intellectual developmental disorder with hypertelorism and distinctive facies [RCV001291721] Chr14:99502367 [GRCh38]
Chr14:99968704 [GRCh37]
Chr14:14q32.2
uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1 copy number loss See cases [RCV000050696] Chr14:97938637..106855263 [GRCh38]
Chr14:98404974..107263478 [GRCh37]
Chr14:97474727..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1 copy number loss See cases [RCV000051552] Chr14:96920270..100178956 [GRCh38]
Chr14:97386607..100645293 [GRCh37]
Chr14:96456360..99715046 [NCBI36]
Chr14:14q32.2
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]|See cases [RCV000052298] Chr14:94628219..106451054 [GRCh38]
Chr14:95094556..106906960 [GRCh37]
Chr14:94164309..105978005 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q32.2(chr14:97210132-100471765)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052090]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052090]|See cases [RCV000052090] Chr14:97210132..100471765 [GRCh38]
Chr14:97676469..100938102 [GRCh37]
Chr14:96746222..100007855 [NCBI36]
Chr14:14q32.2
uncertain significance
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3 copy number gain See cases [RCV000135400] Chr14:97638520..106855263 [GRCh38]
Chr14:98104857..107263478 [GRCh37]
Chr14:97174610..106334523 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3 copy number gain See cases [RCV000135875] Chr14:99448012..106850609 [GRCh38]
Chr14:99914349..107258824 [GRCh37]
Chr14:98984102..106329869 [NCBI36]
Chr14:14q32.2-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3 copy number gain See cases [RCV000135896] Chr14:92540983..104863658 [GRCh38]
Chr14:93007328..105329995 [GRCh37]
Chr14:92077081..104401040 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1 copy number loss See cases [RCV000136032] Chr14:95524407..106879501 [GRCh38]
Chr14:95990744..107287708 [GRCh37]
Chr14:95060497..106358753 [NCBI36]
Chr14:14q32.13-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3 copy number gain See cases [RCV000446497] Chr14:98051841..107285437 [GRCh37]
Chr14:14q32.2-32.33
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3 copy number gain not provided [RCV000683622] Chr14:98924025..101159952 [GRCh37]
Chr14:14q32.2
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q32.2(chr14:100054997-100087364)x1 copy number loss not provided [RCV000738584] Chr14:100054997..100087364 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100056208-100070166)x1 copy number loss not provided [RCV000738585] Chr14:100056208..100070166 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100056208-100075456)x1 copy number loss not provided [RCV000738586] Chr14:100056208..100075456 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100069420-100070166)x1 copy number loss not provided [RCV000738587] Chr14:100069420..100070166 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100069420-100070323)x1 copy number loss not provided [RCV000738588] Chr14:100069420..100070323 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100069420-100070841)x1 copy number loss not provided [RCV000738589] Chr14:100069420..100070841 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100069420-100070892)x1 copy number loss not provided [RCV000738590] Chr14:100069420..100070892 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100069448-100070892)x1 copy number loss not provided [RCV000738591] Chr14:100069448..100070892 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2(chr14:100069678-100070892)x1 copy number loss not provided [RCV000738592] Chr14:100069678..100070892 [GRCh37]
Chr14:14q32.2
benign
NM_001099402.2(CCNK):c.517+8_517+10del microsatellite not provided [RCV000893406] Chr14:99500874..99500876 [GRCh38]
Chr14:99967211..99967213 [GRCh37]
Chr14:14q32.2
benign
GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855) copy number gain not provided [RCV000767823] Chr14:99737888..101847855 [GRCh37]
Chr14:14q32.2-32.31
likely pathogenic
NM_001099402.2(CCNK):c.1530A>C (p.Pro510=) single nucleotide variant not specified [RCV000454541] Chr14:99510569 [GRCh38]
Chr14:99976906 [GRCh37]
Chr14:14q32.2
likely benign
NM_001099402.2(CCNK):c.1446G>C (p.Pro482=) single nucleotide variant not specified [RCV000454951] Chr14:99510485 [GRCh38]
Chr14:99976822 [GRCh37]
Chr14:14q32.2
likely benign
NM_001099402.2(CCNK):c.1524A>C (p.Pro508=) single nucleotide variant not specified [RCV000455633] Chr14:99510563 [GRCh38]
Chr14:99976900 [GRCh37]
Chr14:14q32.2
likely benign
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3 copy number gain not provided [RCV000849272] Chr14:99794230..107285437 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1 copy number loss See cases [RCV001195078] Chr14:96829290..107287663 [GRCh37]
Chr14:14q32.2-32.33
pathogenic
GRCh37/hg19 14q32.2(chr14:99538014-100082239)x1 copy number loss not provided [RCV001259798] Chr14:99538014..100082239 [GRCh37]
Chr14:14q32.2
pathogenic
GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1 copy number loss not provided [RCV001827727] Chr14:95871795..102457523 [GRCh37]
Chr14:14q32.13-32.31
pathogenic
NC_000014.8:g.(?_99375322)_(101142891_?)dup duplication not provided [RCV001997468] Chr14:99375322..101142891 [GRCh37]
Chr14:14q32.2
uncertain significance
NM_001099402.2(CCNK):c.1363G>A (p.Gly455Arg) single nucleotide variant Intellectual developmental disorder with hypertelorism and distinctive facies [RCV002227727] Chr14:99510402 [GRCh38]
Chr14:99976739 [GRCh37]
Chr14:14q32.2
uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:35459 AgrOrtholog
COSMIC CCDC85C COSMIC
Ensembl Genes ENSG00000205476 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000369592 ENTREZGENE
  ENSP00000369592.4 UniProtKB/Swiss-Prot
  ENSP00000450602.1 UniProtKB/TrEMBL
  ENSP00000450850.1 UniProtKB/TrEMBL
  ENSP00000451294.1 UniProtKB/TrEMBL
  ENSP00000451718.1 UniProtKB/TrEMBL
  ENSP00000452300.1 UniProtKB/TrEMBL
  ENSP00000452496.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000380243 ENTREZGENE
  ENST00000380243.9 UniProtKB/Swiss-Prot
  ENST00000554877.1 UniProtKB/TrEMBL
  ENST00000554996.5 UniProtKB/TrEMBL
  ENST00000555822.5 UniProtKB/TrEMBL
  ENST00000556348.1 UniProtKB/TrEMBL
  ENST00000557576.5 UniProtKB/TrEMBL
  ENST00000557769.5 UniProtKB/TrEMBL
GTEx ENSG00000205476 GTEx
HGNC ID HGNC:35459 ENTREZGENE
Human Proteome Map CCDC85C Human Proteome Map
InterPro CCDC85 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:317762 UniProtKB/Swiss-Prot
NCBI Gene 317762 ENTREZGENE
PANTHER PTHR13546 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CCDC85 UniProtKB/Swiss-Prot
PharmGKB PA164717760 PharmGKB
UniProt A6NKD9 ENTREZGENE, UniProtKB/Swiss-Prot
  G3V2D7_HUMAN UniProtKB/TrEMBL
  G3V4C8_HUMAN UniProtKB/TrEMBL
  G3V5D5_HUMAN UniProtKB/TrEMBL
  H0YJE0_HUMAN UniProtKB/TrEMBL
  H0YJY5_HUMAN UniProtKB/TrEMBL