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CFAP74 (Cilia And Flagella Associated Protein 74) is a Protein Coding gene. Diseases associated with CFAP74 include Chromosome 1P36 Deletion Syndrome and Familial Cold Autoinflammatory Syndrome 2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0005929 | cilium | IEA | -- |
GO:0005930 | axoneme | ISS | -- |
GO:0042995 | cell projection | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0035082 | axoneme assembly | ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | KIAA1751 30 |
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||
C1orf222 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | LOC100362748 30 |
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||
Mouse (Mus musculus) |
Mammalia | 2010015L04Rik 30 |
|
||
Cfap74 17 |
|
||||
Cow (Bos Taurus) |
Mammalia | C1orf222 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C1orf222 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIAA1751 30 |
|
||
C1orf222 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | C1orf222 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c1orf222 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:dkeyp-87a12.1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
773794 | Benign: not provided | 1,974,126(-) | C/T | SYNONYMOUS_VARIANT | |
rs13303083 | - | p.Ser50Ile | |||
rs16824588 | - | p.Ile363Val | |||
rs3820011 | - | p.Gly628Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv43n54 | CNV | loss | 21841781 |
esv1576320 | CNV | insertion | 17803354 |
esv1718201 | CNV | insertion | 17803354 |
esv2381744 | CNV | deletion | 18987734 |
esv25575 | CNV | gain+loss | 19812545 |
esv2668919 | CNV | deletion | 23128226 |
esv2758913 | CNV | gain+loss | 17122850 |
esv3385175 | CNV | duplication | 20981092 |
esv3559676 | CNV | deletion | 23714750 |
esv3585019 | CNV | loss | 21293372 |
esv994854 | CNV | loss | 20482838 |
nsv1074477 | CNV | deletion | 25765185 |
nsv1113060 | CNV | deletion | 24896259 |
nsv482937 | CNV | loss | 15286789 |
nsv545044 | CNV | gain | 21841781 |
nsv834335 | CNV | loss | 17160897 |
nsv834446 | CNV | loss | 17160897 |
nsv958160 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 1p36 deletion syndrome |
|
|
familial cold autoinflammatory syndrome 2 |
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|