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PRAMEF12 (PRAME Family Member 12) is a Protein Coding gene. Diseases associated with PRAMEF12 include Spastic Paraplegia 14, Autosomal Recessive and Bardet-Biedl Syndrome 4. Gene Ontology (GO) annotations related to this gene include retinoic acid receptor binding. An important paralog of this gene is PRAMEF7.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH01J012781 | Enhancer | 0.4 | Ensembl | 0.4 | +8.4 | 8362 | 0.6 | CTCF RAD21 SMC3 | PRAMEF1 PRAMEF12 | |
GH01J012783 | Enhancer | 0.3 | Ensembl | 0.4 | +9.7 | 9663 | 0.4 | CTCF | PRAMEF1 PRAMEF12 | |
GH01J012791 | Promoter | 0.3 | EPDnew | 0.4 | +17.6 | 17640 | 0.1 | PRAMEF1 PRAMEF12 | ||
GH01J012757 | Enhancer | 0.3 | Ensembl | 0.4 | -17.0 | -17037 | 0.2 | ZIC2 | AADACL3 C1orf158 PRAMEF12 | |
GH01J012756 | Enhancer | 0.2 | Ensembl | 0.4 | -17.6 | -17637 | 0.2 | C1orf158 PRAMEF12 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008284 | positive regulation of cell proliferation | IEA | -- |
GO:0043066 | negative regulation of apoptotic process | IEA | -- |
GO:0045596 | negative regulation of cell differentiation | IEA | -- |
GO:0045892 | negative regulation of transcription, DNA-templated | IEA | -- |
This gene was present in the common ancestor of human and mouse.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PRAMEF12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pramef12 30 |
|
||
Gm12790 31 |
|
OneToMany | |||
Pramel13 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Pramef12 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17346571 | - | p.Thr53Lys | |||
rs1812242 | - | p.Thr157Met |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv114n54 | CNV | gain | 21841781 |
dgv115n54 | CNV | loss | 21841781 |
dgv116n54 | CNV | loss | 21841781 |
dgv117n54 | CNV | gain+loss | 21841781 |
dgv19n100 | CNV | loss | 25217958 |
dgv20n100 | CNV | loss | 25217958 |
dgv21n100 | CNV | loss | 25217958 |
dgv23n100 | CNV | loss | 25217958 |
dgv5n27 | CNV | gain | 19166990 |
dgv6n111 | CNV | duplication | 26073780 |
dgv6n27 | CNV | loss | 19166990 |
nsv1000876 | CNV | gain | 25217958 |
nsv1011540 | CNV | loss | 25217958 |
nsv466394 | CNV | gain | 19166990 |
nsv470695 | CNV | loss | 18288195 |
nsv528703 | CNV | loss | 19592680 |
nsv545445 | CNV | gain | 21841781 |
nsv832869 | CNV | gain+loss | 17160897 |
nsv945774 | CNV | duplication | 23825009 |
nsv999658 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 14, autosomal recessive |
|
|
bardet-biedl syndrome 4 |
|
|