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This locus represents naturally occurring readthrough transcription between the neighboring SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and ADORA2A (adenosine A2a receptor) genes on chromosome 22. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is unlikely to produce a protein product. [provided by RefSeq, Jun 2013]
SPECC1L-ADORA2A (SPECC1L-ADORA2A Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with SPECC1L-ADORA2A include Hypertelorism, Teebi Type and Opitz Gbbb Syndrome, Type Ii. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and enzyme binding. An important paralog of this gene is SPECC1L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005815 | microtubule organizing center | IBA | -- |
GO:0031941 | filamentous actin | IBA | -- |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS000075D353_9606 | lncRNA | 6289 | 1 |
RefSeq: NR_103546, |
URS00008B2512_9606 | lncRNA | 578 | 1 |
LNCipedia: lnc-ADORA2A-1:5, |
URS00008B6214_9606 | lncRNA | 549 | 1 |
LNCipedia: lnc-ADORA2A-1:4, |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | SPECC1L 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Specc1l 31 |
|
OneToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | SPECC1L 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | specc1la 31 |
|
ManyToMany | |
specc1lb 31 |
|
ManyToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG13366 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3677 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
599382 | Likely Pathogenic: Hypertelorism, Teebi type | 24,322,229(+) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
691567 | Uncertain Significance: Craniosynostosis | 24,322,895(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
691915 | Uncertain Significance: Craniosynostosis | 24,322,599(+) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
708016 | Benign: not provided | 24,322,709(+) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
708645 | Benign: not provided | 24,328,848(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4528n100 | CNV | gain | 25217958 |
dgv8039n54 | CNV | gain | 21841781 |
esv24290 | CNV | gain | 19812545 |
esv2724041 | CNV | deletion | 23290073 |
esv2724068 | CNV | deletion | 23290073 |
esv3575443 | CNV | gain | 25503493 |
esv3893463 | CNV | gain | 25118596 |
esv996036 | CNV | deletion | 20482838 |
nsv1055830 | CNV | gain | 25217958 |
nsv1057819 | CNV | gain | 25217958 |
nsv1110863 | OTHER | inversion | 24896259 |
nsv526567 | CNV | gain | 19592680 |
nsv588744 | CNV | gain | 21841781 |
nsv7350 | OTHER | inversion | 18451855 |
nsv834158 | CNV | gain | 17160897 |
nsv834160 | CNV | gain | 17160897 |
nsv953060 | CNV | duplication | 24416366 |
nsv953061 | CNV | deletion | 24416366 |
nsv964609 | CNV | duplication | 23825009 |
nsv964610 | CNV | duplication | 23825009 |
nsv966093 | CNV | duplication | 23825009 |
nsv979658 | CNV | duplication | 23825009 |
nsv9883 | CNV | gain+loss | 18304495 |
nsv9884 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypertelorism, teebi type |
|
|
opitz gbbb syndrome, type ii |
|
|
oculomaxillofacial dysostosis |
|
|
opitz-gbbb syndrome |
|
|
hypertelorism |
|
|