SRSF2 serine and arginine rich splicing factor 2
Information
- Symbol
- SRSF2
- Type
- protein-coding
- Description
- serine and arginine rich splicing factor 2
- Entrez Gene ID
- 6427
- Genome
- hg19
- Position
- chr17:74,730,197-74,733,415
- Genome
- hg38
- Position
- chr17:76,734,115-76,737,333
- MIM
- 600813 OMIM
- HGNC
- HGNC:10783 HGNC
- Ensembl
- ENSG00000161547 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 2 | 2 |
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| not provided | 15 | 0 |
| Uncertain significance | 0 | 10 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
18 |
 |
2 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | PR264 |
| SYNONYM | SC-35 |
| SYNONYM | SC35 |
| SYNONYM | SFRS2 |
| SYNONYM | SFRS2A |
| SYNONYM | SRp30b |
| MIM | 600813 OMIM |
| HGNC | HGNC:10783 HGNC |
| Ensembl | ENSG00000161547 Ensembl |
| AllianceGenome | HGNC:10783 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000508921.7 | hg38 | chr17 | 76,734,577 | 76,737,331 | 2,755 |
| ENST00000392485.2 | hg38 | chr17 | 76,734,115 | 76,737,333 | 3,219 |
| ENST00000359995.10 | hg38 | chr17 | 76,734,115 | 76,737,331 | 3,217 |
| ENST00000359995.10 | hg19 | chr17 | 74,730,197 | 74,733,413 | 3,217 |
| ENST00000392485.2 | hg19 | chr17 | 74,730,197 | 74,733,415 | 3,219 |
| ENST00000508921.7 | hg19 | chr17 | 74,730,659 | 74,733,413 | 2,755 |
| Key | Value |
|---|---|
| strand | - |
| start | 74,730,196 |
| Vogelstein | OG |
| Gene Symbol | SRSF2 |
| Entrez GeneId | 6,427 |
| Chr Band | 17q25 |
| end | 74,733,492 |
| chr | chr17 |
| Name | serine/arginine-rich splicing factor 2 |
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