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BEND7 (BEN Domain Containing 7) is a Protein Coding gene. Diseases associated with BEND7 include Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0070062 | extracellular exosome | HDA | 19056867 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BEND7 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BEND7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BEND7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bend7 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Bend7 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BEND7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BEND7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BEND7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BEND7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bend7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC560711 30 |
|
||
BEND7 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
VAR_035501 | A breast cancer sample |
p.Arg313Thr |
|||
rs12247033 | - |
p.Asn341Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1007603 | CNV | deletion | 20482838 |
esv2733395 | CNV | deletion | 23290073 |
esv3545929 | CNV | deletion | 23714750 |
esv7966 | CNV | loss | 19470904 |
nsv508568 | CNV | deletion | 20534489 |
nsv825252 | CNV | gain | 20364138 |
nsv831788 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency-centromeric instability-facial anomalies syndrome |
|
|