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SRRM4 promotes alternative splicing and inclusion of neural-specific exons in target mRNAs (Calarco et al., 2009 [PubMed 19737518]).[supplied by OMIM, Oct 2009]
SRRM4 (Serine/Arginine Repetitive Matrix 4) is a Protein Coding gene. Diseases associated with SRRM4 include Deafness, Autosomal Dominant 27 and Medulloblastoma. Gene Ontology (GO) annotations related to this gene include mRNA binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | IEA | -- |
GO:0003729 | mRNA binding | IEA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IEA,ISS | -- |
GO:0006397 | mRNA processing | IBA,ISS | -- |
GO:0007399 | nervous system development | IEA,ISS | -- |
GO:0007605 | sensory perception of sound | IEA | -- |
GO:0008380 | RNA splicing | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||
SP2: | - | ||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SRRM4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SRRM4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SRRM4 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Srrm4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SRRM4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SRRM4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | -- 31 |
|
OneToMany | |
SRRM4 30 |
|
||||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | SRRM4 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | SRRM4 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555219792 | Uncertain Significance: not provided | 119,120,278(+) | T/C | SPLICE_DONOR_VARIANT | |
rs2555273 | - | p.Arg547Ser | |||
rs2723880 | - | p.Arg406Gln | |||
rs7297606 | - | p.Ser243Asn |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1564n100 | CNV | loss | 25217958 |
dgv309n67 | CNV | loss | 20364138 |
esv2659059 | CNV | deletion | 23128226 |
esv2665881 | CNV | deletion | 23128226 |
esv2669850 | CNV | deletion | 23128226 |
esv2746456 | CNV | deletion | 23290073 |
esv275551 | CNV | gain+loss | 21479260 |
esv3580498 | CNV | loss | 25503493 |
esv3630896 | CNV | loss | 21293372 |
esv3630897 | CNV | loss | 21293372 |
esv3630898 | CNV | loss | 21293372 |
esv3630899 | CNV | loss | 21293372 |
nsv1069698 | CNV | deletion | 25765185 |
nsv438238 | CNV | loss | 16468122 |
nsv455725 | CNV | loss | 19166990 |
nsv521985 | CNV | loss | 19592680 |
nsv529044 | CNV | loss | 19592680 |
nsv560395 | CNV | loss | 21841781 |
nsv902 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal dominant 27 |
|
|
medulloblastoma |
|
|
suppression of tumorigenicity 12 |
|
|