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JHY (Junctional Cadherin Complex Regulator) is a Protein Coding gene. Diseases associated with JHY include Hydrocephalus and Neuronopathy, Distal Hereditary Motor, Type Iib.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007420 | brain development | IBA | 21873635 |
GO:0030030 | cell projection organization | IEA | -- |
GO:0032053 | ciliary basal body organization | IBA | 21873635 |
GO:0033326 | cerebrospinal fluid secretion | IEA | -- |
GO:0035082 | axoneme assembly | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC451628 30 |
|
||
C11orf63 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C5H11orf63 30 |
|
||
C11orf63 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | C15H11orf63 30 |
|
||
C11orf63 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | 4931429I11Rik 30 31 |
|
OneToOne | |
Jhy 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | RGD1309108 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | C11orf63 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C11orf63 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C24H11orf63 30 |
|
||
C11orf63 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | C11orf63 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | C10H11orf63 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs33999612 | - | p.His486Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2661962 | CNV | deletion | 23128226 |
esv3627950 | CNV | loss | 21293372 |
nsv1040084 | CNV | loss | 25217958 |
nsv1138082 | CNV | deletion | 24896259 |
nsv510278 | OTHER | sequence alteration | 20534489 |
nsv520988 | CNV | gain | 19592680 |
nsv522969 | CNV | loss | 19592680 |
nsv556482 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hydrocephalus |
|
|
neuronopathy, distal hereditary motor, type iib |
|
|