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EMSY (EMSY Transcriptional Repressor, BRCA2 Interacting) is a Protein Coding gene. Diseases associated with EMSY include Sporadic Breast Cancer and Peanut Allergy. Among its related pathways are Mesodermal Commitment Pathway.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16615912 |
GO:0042802 | identical protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mesodermal Commitment Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006281 | DNA repair | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C11orf30 31 |
|
OneToOne | |
C11H11orf30 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | C11orf30 31 |
|
OneToOne | |
C15H11orf30 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | C11orf30 31 |
|
OneToOne | |
C21H11orf30 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | 2210018M11Rik 30 31 |
|
OneToOne | |
Emsy 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | RGD1310712 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | C11orf30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | C11orf30 31 |
|
OneToOne | |
C11ORF30 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | C11orf30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c11orf30 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:56039 30 |
|
||
C10H11orf30 31 |
|
OneToOne | |||
wufj36b04 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10497 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15356 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
712727 | Benign: not provided | 76,544,410(+) | T/G | MISSENSE_VARIANT | |
724258 | Benign: not provided | 76,544,468(+) | G/A | SYNONYMOUS_VARIANT | |
726525 | Benign: not provided | 76,451,851(+) | C/T | INTRON_VARIANT | |
781965 | Benign: not provided | 76,523,148(+) | T/C | INTRON_VARIANT | |
786203 | Benign: not provided | 76,451,964(+) | T/C | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2744790 | CNV | deletion | 23290073 |
esv3352000 | CNV | insertion | 20981092 |
esv3548016 | CNV | deletion | 23714750 |
esv3626871 | CNV | loss | 21293372 |
nsv1050713 | CNV | loss | 25217958 |
nsv528623 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sporadic breast cancer |
|
|
peanut allergy |
|
|
fallopian tube endometrioid adenocarcinoma |
|
|
epiphyseal dysplasia, multiple, 2 |
|
|
multiple epiphyseal dysplasia due to collagen 9 anomaly |
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