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LCA5L (Lebercilin LCA5 Like) is a Protein Coding gene. Diseases associated with LCA5L include Leber Congenital Amaurosis 5 and Disuse Amblyopia. An important paralog of this gene is LCA5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005930 | axoneme | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0042073 | intraciliary transport | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - |
ExUns: | 17 |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: | |
SP7: | |
SP8: | |
SP9: | |
SP10: | |
SP11: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LCA5L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | LCA5L 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Lca5l 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Lca5l 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LCA5L 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LCA5L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LCA5L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LCA5L 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6652 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11558767 | - | p.Gly547Ser | |||
rs2837029 | - | p.Gly17Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4433n100 | CNV | gain | 25217958 |
esv25616 | CNV | loss | 19812545 |
esv2672503 | CNV | deletion | 23128226 |
esv2723433 | CNV | deletion | 23290073 |
esv3647018 | CNV | loss | 21293372 |
esv3647019 | CNV | loss | 21293372 |
nsv1061454 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leber congenital amaurosis 5 |
|
|
disuse amblyopia |
|
|
esotropia |
|
|
strabismus |
|
|