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SCAF1 (SR-Related CTD Associated Factor 1) is a Protein Coding gene. Diseases associated with SCAF1 include Spinocerebellar Ataxia, Autosomal Recessive 3. Gene Ontology (GO) annotations related to this gene include RNA binding and protein domain specific binding. An important paralog of this gene is SCAF11.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0019904 | protein domain specific binding | IEA | -- |
GO:0099122 | RNA polymerase II C-terminal domain binding | IPI | 15992770 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006366 | transcription by RNA polymerase II | IEA | -- |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008380 | RNA splicing | IEA | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SCAF1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SCAF1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SCAF1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Scaf1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SCAF1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SCAF1 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | scaf1 31 |
|
OneToOne | |
Dr.19086 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10928 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG2926 31 |
|
OneToMany | |
Corn (Zea mays) |
Liliopsida | Zm.10149 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710861 | Benign: not provided | 49,645,079(+) | G/A | MISSENSE_VARIANT | |
710946 | Benign: not provided | 49,646,556(+) | G/T | MISSENSE_VARIANT | |
769038 | Benign: not provided | 49,645,071(+) | G/C | SYNONYMOUS_VARIANT | |
790762 | Benign: not provided | 49,654,723(+) | G/A | SYNONYMOUS_VARIANT | |
rs2304208 | - | p.Met1146Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1160655 | CNV | deletion | 26073780 |
nsv469715 | CNV | gain+loss | 16826518 |
nsv470150 | CNV | gain | 18288195 |
nsv579908 | CNV | loss | 21841781 |
nsv579909 | CNV | loss | 21841781 |
nsv817854 | CNV | gain | 17921354 |
nsv828578 | CNV | loss | 20364138 |
nsv833864 | CNV | gain | 17160897 |
nsv833865 | CNV | gain+loss | 17160897 |
nsv953600 | CNV | deletion | 24416366 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive 3 |
|
|