RAPSN receptor associated protein of the synapse
Information
- Symbol
- RAPSN
- Type
- protein-coding
- Description
- receptor associated protein of the synapse
- Entrez Gene ID
- 5913
- Genome
- hg19
- Position
- chr11:47,459,315-47,470,688
- Genome
- hg38
- Position
- chr11:47,437,764-47,449,136
- MIM
- 601592 OMIM
- HGNC
- HGNC:9863 HGNC
- Ensembl
- ENSG00000165917 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 5 | 130 |
| Likely pathogenic | 0 | 80 |
| Benign | 0 | 46 |
| Likely benign | 0 | 648 |
| Conflicting classifications of pathogenicity | 0 | 62 |
| Uncertain significance | 0 | 376 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
230 |
 |
982 |
 |
16 |
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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| 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 | CMS11 |
| SYNONYM | CMS4C |
| SYNONYM | FADS |
| SYNONYM | FADS2 |
| SYNONYM | RAPSYN |
| SYNONYM | RNF205 |
| MIM | 601592 OMIM |
| HGNC | HGNC:9863 HGNC |
| Ensembl | ENSG00000165917 Ensembl |
| AllianceGenome | HGNC:9863 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000298854.7 | hg38 | chr11 | 47,437,764 | 47,449,136 | 11,373 |
| ENST00000529341.1 | hg38 | chr11 | 47,438,485 | 47,449,136 | 10,652 |
| ENST00000524487.5 | hg38 | chr11 | 47,437,765 | 47,449,136 | 11,372 |
| ENST00000352508.7 | hg38 | chr11 | 47,437,764 | 47,449,143 | 11,380 |
| ENST00000298854.7 | hg19 | chr11 | 47,459,315 | 47,470,688 | 11,374 |
| ENST00000352508.7 | hg19 | chr11 | 47,459,315 | 47,470,695 | 11,381 |
| ENST00000524487.5 | hg19 | chr11 | 47,459,316 | 47,470,688 | 11,373 |
| ENST00000529341.1 | hg19 | chr11 | 47,460,036 | 47,470,688 | 10,653 |
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