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C12orf29 (Chromosome 12 Open Reading Frame 29) is a Protein Coding gene. Diseases associated with C12orf29 include Senior-Loken Syndrome 6 and Meckel Syndrome, Type 4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002244 | hematopoietic progenitor cell differentiation | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf29 30 |
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C12orf29 31 |
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OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C15H12orf29 30 |
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C12orf29 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | C5H12orf29 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C12orf29 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | RGD1307947 30 |
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Mouse (Mus musculus) |
Mammalia | 4930430F08Rik 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf29 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C12ORF29 30 |
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C12orf29 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | C12orf29 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | zgc:103499 30 |
|
||
C25H12orf29 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5404 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
663263 | Pathogenic: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome | 88,049,291(+) | C/CCTTCT | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT | |
745463 | Likely Benign: Nephronophthisis; Joubert syndrome; Meckel-Gruber syndrome | 88,049,331(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
793801 | Likely Benign: not provided | 88,049,412(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
797282 | Likely Benign: not provided | 88,049,295(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
830333 | Likely Pathogenic: Rod-cone dystrophy | 88,049,279(+) | A/AAAGT | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3892241 | CNV | gain | 25118596 |
nsv483111 | CNV | loss | 15286789 |
Disorder | Aliases | PubMed IDs |
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senior-loken syndrome 6 |
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meckel syndrome, type 4 |
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joubert syndrome 5 |
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bardet-biedl syndrome 14 |
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leber congenital amaurosis 10 |
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