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C12orf50 (Chromosome 12 Open Reading Frame 50) is a Protein Coding gene. Diseases associated with C12orf50 include Autosomal Recessive Non-Syndromic Intellectual Disability. An important paralog of this gene is ZC3H11A.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH12J088029 | Promoter | 0.5 | EPDnew | 250.7 | +4.6 | 4648 | 0.1 | CEBPB CEBPG | C12orf50 C12orf29 HSALNG0092879 lnc-C12orf50-3 piR-47086-099 | |
GH12J088034 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 0.7 | -2.3 | -2264 | 3 | CHD2 TBP ZBTB10 MXD4 FEZF1 SIX5 MNT DEK SMAD5 ETS1 | C12orf29 HSALNG0092880 LOC107984542 CEP290 TMTC3 C12orf50 HSALNG0092879 MN309582 | |
GH12J088063 | Enhancer | 0.5 | Ensembl | 0.3 | -29.7 | -29664 | 0.6 | BATF JUNB ATF7 MTA2 ETV6 | ENSG00000257752 lnc-C12orf50-4 HSALNG0092885 C12orf50 HE855976 CEP290 | |
GH12J088133 | Enhancer | 0.5 | Ensembl | 0.2 | -98.5 | -98464 | 0.2 | MAFF ZNF316 NFE2 NFE2L2 MAFK MAFG BACH1 EMSY | CEP290 HE855976 ENSG00000257752 lnc-C12orf50-4 C12orf50 | |
GH12J088038 | Enhancer | 0.2 | Ensembl | 0.4 | -5.3 | -5264 | 1 | CEP290 TMTC3 HSALNG0092880 C12orf29 C12orf50 MN309582 HSALNG0092879 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003729 | mRNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000346 | colocalizes_with transcription export complex | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016973 | poly(A)+ mRNA export from nucleus | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf50 30 |
|
||
C12orf50 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C15H12orf50 30 |
|
||
C12orf50 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | LOC500827 30 |
|
||
Mouse (Mus musculus) |
Mammalia | 1700017N19Rik 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C12orf50 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C12orf50 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf50 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C12ORF50 30 |
|
||
C12orf50 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | C12orf50 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10777084 | - |
p.Gln306Arg |
|||
rs11104703 | - |
p.Arg322His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2746169 | CNV | deletion | 23290073 |
esv2746170 | CNV | deletion | 23290073 |
esv2746171 | CNV | deletion | 23290073 |
esv3892241 | CNV | gain | 25118596 |
nsv483111 | CNV | loss | 15286789 |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal recessive non-syndromic intellectual disability |
|
|