IRF5 interferon regulatory factor 5
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 12 |
| Likely benign | 0 | 12 |
| Pathogenic; risk factor | 0 | 1 |
| risk factor | 0 | 4 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
4 |
 |
78 |
 |
5 |
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
|
| 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 | SLEB10 |
| MIM | 607218 OMIM |
| HGNC | HGNC:6120 HGNC |
| Ensembl | ENSG00000128604 Ensembl |
| AllianceGenome | HGNC:6120 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000357234.10 | hg38 | chr7 | 128,937,927 | 128,950,038 | 12,112 |
| ENST00000489702.6 | hg38 | chr7 | 128,937,612 | 128,950,027 | 12,416 |
| ENST00000477535.5 | hg38 | chr7 | 128,937,940 | 128,948,832 | 10,893 |
| ENST00000473745.5 | hg38 | chr7 | 128,940,672 | 128,949,388 | 8,717 |
| ENST00000402030.6 | hg38 | chr7 | 128,937,989 | 128,950,035 | 12,047 |
| ENST00000489702.6 | hg19 | chr7 | 128,577,666 | 128,590,081 | 12,416 |
| ENST00000357234.10 | hg19 | chr7 | 128,577,981 | 128,590,092 | 12,112 |
| ENST00000477535.5 | hg19 | chr7 | 128,577,994 | 128,588,886 | 10,893 |
| ENST00000402030.6 | hg19 | chr7 | 128,578,043 | 128,590,089 | 12,047 |
| ENST00000473745.5 | hg19 | chr7 | 128,580,726 | 128,589,442 | 8,717 |
Genome browser