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Differences in the expression level of this gene are associated with the survival rate of those with glioma. [provided by RefSeq, May 2017]
FAM120AOS (Family With Sequence Similarity 120A Opposite Strand) is a Protein Coding gene. Diseases associated with FAM120AOS include Gastroesophageal Reflux and Pectus Excavatum.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 32296183 |
ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | · | 6f |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | ||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM120AOS 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs140119177 | Likely Pathogenic: Coarse facial features; Pectus excavatum; Cutis laxa; Muscular hypotonia; Gastroesophageal reflux; Scoliosis; Chronic lung disease; Hyperactive airways; Bilateral undescended testicles | 93,447,639(-) |
G/A NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs776648143 | Likely Benign: not provided | 93,452,439(-) |
CT/C NM_198841.4(FAM120AOS):c.270del (p.Ile90fs) |
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON | |
rs1055710 | - |
p.Leu22Phe |
|||
rs10821128 | - |
p.Lys241Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2672054 | CNV | deletion | 23128226 |
esv2738783 | CNV | deletion | 23290073 |
esv2738785 | CNV | deletion | 23290073 |
esv3621099 | CNV | loss | 21293372 |
nsv1075663 | CNV | deletion | 25765185 |
nsv1124450 | CNV | deletion | 24896259 |
nsv950899 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
gastroesophageal reflux |
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pectus excavatum |
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cutis laxa |
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scoliosis |
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cohen syndrome |
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