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CCDC60 (Coiled-Coil Domain Containing 60) is a Protein Coding gene. Diseases associated with CCDC60 include Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 and Neuronitis.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J119336 | Promoter/Enhancer | 0.9 | EPDnew Ensembl | 250.7 | -0.1 | -69 | 0.5 | SIN3A VEZF1 TAF1 RFX1 ZNF148 SP1 NR2C1 NR2C2 CHD2 | CCDC60 NONHSAG012483.2 LINC00934 HSPB8 | |
GH12J119335 | Promoter | 0.5 | EPDnew | 250.7 | +0.3 | 296 | 0.1 | VEZF1 ZNF148 | CCDC60 NONHSAG012483.2 piR-49732-122 TMEM233 | |
GH12J119206 | Enhancer | 1.1 | FANTOM5 Ensembl ENCODE dbSUPER | 1.7 | -126.7 | -126711 | 3.2 | CEBPB CTCF REST FOXA1 RFX1 RFX5 HLF MNT RAD21 ZBTB17 | CCDC60 HSPB8 SRRM4 LOC105370026 HSALNG0094464 | |
GH12J119386 | Enhancer | 0.3 | Ensembl | 5.1 | +52.2 | 52189 | 1.4 | POLR2A | CCDC60 lnc-HSPB8-5 piR-60597-015 NONHSAG012483.2 TMEM233 ENSG00000248636 | |
GH12J119389 | Enhancer | 0.2 | Ensembl | 5.1 | +56.0 | 55989 | 1.8 | lnc-HSPB8-5 CCDC60 piR-50133-002 NONHSAG012483.2 TMEM233 ENSG00000248636 LOC105370027 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCDC60 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CCDC60 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCDC60 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ccdc60 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ccdc60 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CCDC60 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CCDC60 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CCDC60 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1064319 | - |
p.Ile46Val |
|||
rs16949292 | - |
p.Val393Ile |
|||
rs2519540 | - |
p.Thr115Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv318e199 | CNV | deletion | 23128226 |
esv2127888 | CNV | deletion | 18987734 |
esv2674874 | CNV | deletion | 23128226 |
esv2746459 | CNV | deletion | 23290073 |
esv3407653 | CNV | duplication | 20981092 |
esv3549870 | CNV | deletion | 23714750 |
esv3549871 | CNV | deletion | 23714750 |
esv3630902 | CNV | loss | 21293372 |
esv3817 | CNV | loss | 18987735 |
esv7481 | CNV | loss | 19470904 |
nsv1035871 | CNV | gain | 25217958 |
nsv474516 | CNV | novel sequence insertion | 20440878 |
nsv832528 | CNV | gain | 17160897 |
nsv832529 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital muscular dystrophy-dystroglycanopathy type a6 |
|
|
neuronitis |
|
|