SRSF1 serine and arginine rich splicing factor 1
Information
- Symbol
- SRSF1
- Type
- protein-coding
- Description
- serine and arginine rich splicing factor 1
- Entrez Gene ID
- 6426
- Genome
- hg19
- Position
- chr17:56,078,280-56,084,607
- Genome
- hg38
- Position
- chr17:58,000,919-58,007,246
- MIM
- 600812 OMIM
- HGNC
- HGNC:10780 HGNC
- Ensembl
- ENSG00000136450 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 18 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 14 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
2 |
 |
30 |
 |
0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| 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
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MGeND data only
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| 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
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| 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 | ASF |
| SYNONYM | NEDFBA |
| SYNONYM | SF2 |
| SYNONYM | SF2p33 |
| SYNONYM | SFRS1 |
| SYNONYM | SRp30a |
| MIM | 600812 OMIM |
| HGNC | HGNC:10780 HGNC |
| Ensembl | ENSG00000136450 Ensembl |
| AllianceGenome | HGNC:10780 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000585096.1 | hg38 | chr17 | 58,004,822 | 58,007,273 | 2,452 |
| ENST00000582730.6 | hg38 | chr17 | 58,003,360 | 58,007,261 | 3,902 |
| ENST00000584773.5 | hg38 | chr17 | 58,004,588 | 58,007,261 | 2,674 |
| ENST00000258962.5 | hg38 | chr17 | 58,000,919 | 58,007,246 | 6,328 |
| ENST00000258962.5 | hg19 | chr17 | 56,078,280 | 56,084,607 | 6,328 |
| ENST00000582730.6 | hg19 | chr17 | 56,080,721 | 56,084,622 | 3,902 |
| ENST00000584773.5 | hg19 | chr17 | 56,081,949 | 56,084,622 | 2,674 |
| ENST00000585096.1 | hg19 | chr17 | 56,082,183 | 56,084,634 | 2,452 |
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