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CCER1 (Coiled-Coil Glutamate Rich Protein 1) is a Protein Coding gene. Diseases associated with CCER1 include Corneal Dystrophy, Posterior Amorphous and Stromal Dystrophy.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J090979 | Enhancer | 0.9 | Ensembl ENCODE CraniofacialAtlas | 0.3 | -24.5 | -24475 | 3.3 | CTCF REST TRIM22 SMC3 RAD21 MAFF CHD2 ZNF654 | KERA LUM EPYC DCN piR-60146-030 lnc-C12orf74-16 CCER1 | |
GH12J091344 | Enhancer | 0.2 | FANTOM5 | 1.4 | -389.1 | -389084 | 0.3 | CCER1 LINC02823 LOC105369898 DCN lnc-DCN-1 BTG1 | ||
GH12J090938 | Enhancer | 0.5 | Ensembl ENCODE | 0.4 | +16.3 | 16275 | 1.4 | NFE2 NR2F2 | LUM piR-36968 CCER1 lnc-CCER1-1 LINC00615 | |
GH12J090921 | Enhancer | 0.6 | Ensembl ENCODE | 0.3 | +32.9 | 32875 | 1.8 | MAFK JUND HNF4A EP300 CEBPB | LINC00615 piR-46847-068 lnc-CCER1-1 CCER1 | |
GH12J090908 | Enhancer | 0.7 | Ensembl ENCODE | 0.3 | +46.5 | 46523 | 1.7 | CTCF RAD21 SMC3 JUND HLF ZNF143 CEBPB TRIM22 | HSALNG0092993 ENSG00000288102 CCER1 lnc-CCER1-1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CCER1 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | CCER1 30 |
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Cow (Bos Taurus) |
Mammalia | CCER1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ccer1 30 |
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||
Mouse (Mus musculus) |
Mammalia | Ccer1 30 17 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11105882 | - |
p.Asp286Glu |
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rs17855513 | - |
p.Ile379Met |
Disorder | Aliases | PubMed IDs |
---|---|---|
corneal dystrophy, posterior amorphous |
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stromal dystrophy |
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corneal dystrophy, congenital stromal |
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