U2AF1 U2 small nuclear RNA auxiliary factor 1
Information
- Symbol
- U2AF1
- Type
- protein-coding
- Description
- U2 small nuclear RNA auxiliary factor 1
- Entrez Gene ID
- 7307
- Genome
- hg19
- Position
- chr21:44,513,066-44,527,680
- Genome
- hg38
- Position
- chr21:43,092,956-43,107,570
- MIM
- 191317 OMIM
- HGNC
- HGNC:12453 HGNC
- Ensembl
- ENSG00000160201 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 2 | 8 |
| Benign | 0 | 2 |
| not provided | 34 | 0 |
| Uncertain significance | 1 | 4 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
8 |
 |
6 |
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
|
| Category | : |
|
| Search word | : | |
| 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
|
| Category | : |
|
| 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 | : |
|
| 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 | FP793 |
| SYNONYM | RN |
| SYNONYM | RNU2AF1 |
| SYNONYM | U2AF35 |
| SYNONYM | U2AFBP |
| MIM | 191317 OMIM |
| HGNC | HGNC:12453 HGNC |
| Ensembl | ENSG00000160201 Ensembl |
| AllianceGenome | HGNC:12453 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000291552.9 | hg38 | chr21 | 43,092,956 | 43,107,570 | 14,615 |
| ENST00000459639.5 | hg38 | chr21 | 43,092,956 | 43,105,252 | 12,297 |
| ENST00000380276.6 | hg38 | chr21 | 43,092,956 | 43,107,565 | 14,610 |
| ENST00000459639.5 | hg19 | chr21 | 44,513,066 | 44,525,362 | 12,297 |
| ENST00000380276.6 | hg19 | chr21 | 44,513,066 | 44,527,675 | 14,610 |
| ENST00000291552.9 | hg19 | chr21 | 44,513,066 | 44,527,680 | 14,615 |
| Key | Value |
|---|---|
| strand | - |
| start | 44,513,065 |
| Vogelstein | OG |
| Gene Symbol | U2AF1 |
| Entrez GeneId | 7,307 |
| Chr Band | 21q22.3 |
| end | 44,527,687 |
| chr | chr21 |
| Name | U2 small nuclear RNA auxiliary factor 1 |
Genome browser