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CCDC68 (Coiled-Coil Domain Containing 68) is a Protein Coding gene. Diseases associated with CCDC68 include Cutaneous T Cell Lymphoma and Pregnancy Loss, Recurrent 1. An important paralog of this gene is GCOM1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH18J054957 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 264.3 | -0.1 | -138 | 5 | FEZF1 BRCA1 KDM6A THAP11 FOXA2 SMAD4 SAP130 ZNF341 GABPB1 RARA | CCDC68 POLI ENSG00000267311 lnc-CCDC68-3 TCF4 | |
GH18J055000 | Promoter | 0.3 | EPDnew | 250.3 | -41.4 | -41353 | 0.1 | CCDC68 HSALNG0121674 piR-50852-064 TCF4 | ||
GH18J054717 | Promoter/Enhancer | 1.3 | EPDnew Ensembl ENCODE dbSUPER | 11 | +241.4 | 241373 | 0.9 | ZNF143 POLR2A RAD21 CTCF RUNX3 | RAB27B CCDC68 lnc-DYNAP-36 | |
GH18J054945 | Enhancer | 1 | ENCODE | 14.3 | +12.3 | 12294 | 3.9 | MXD4 CEBPA FOXA1 IKZF1 IRF2 MBD2 HOMEZ KDM6A THAP11 CEBPB | CCDC68 POLI STARD6 HSALNG0121670 lnc-RAB27B-1 RAB27B | |
GH18J054827 | Promoter/Enhancer | 1.8 | EPDnew Ensembl ENCODE CraniofacialAtlas | 5.8 | +130.1 | 130057 | 3.5 | FEZF1 IKZF1 ZNF217 SIX4 ELF1 ZIC2 CEBPB MAX ZNF341 GABPB1 | RAB27B CCDC68 POLI piR-48325-079 HSALNG0121662 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005622 | intracellular | IBA | 21873635 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005814 | centriole | IDA | 28422092 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0120103 | centriolar subdistal appendage | IDA | 28422092 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008104 | protein localization | IMP | 28422092 |
GO:0034454 | microtubule anchoring at centrosome | IMP | 28422092 |
GO:0035556 | intracellular signal transduction | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC68 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCDC68 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCDC68 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ccdc68 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | CCDC68 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CCDC68 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ccdc68 30 |
|
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
812695 | Likely Pathogenic: Recurrent spontaneous abortion | 54,919,284(-) |
C/CT NM_025214.3(CCDC68):c.775dup (p.Ser259fs) |
FRAMESHIFT | |
rs34751112 | - |
p.Val249Ala |
Disorder | Aliases | PubMed IDs |
---|---|---|
cutaneous t cell lymphoma |
|
|
pregnancy loss, recurrent 1 |
|
|
lymphoma |
|
|
seckel syndrome 7 |
|
|
orofaciodigital syndrome ix |
|
|