ERN1 endoplasmic reticulum to nucleus signaling 1
Information
- Symbol
- ERN1
- Type
- protein-coding
- Description
- endoplasmic reticulum to nucleus signaling 1
- Entrez Gene ID
- 2081
- Genome
- hg19
- Position
- chr17:62,116,502-62,207,504
- Genome
- hg38
- Position
- chr17:64,039,142-64,130,144
- MIM
- 604033 OMIM
- HGNC
- HGNC:3449 HGNC
- Ensembl
- ENSG00000178607 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 10 |
| Uncertain significance | 0 | 86 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
102 |
 |
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
| Target data | : |
MGeND data only
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| 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
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| 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 | IRE1 |
| SYNONYM | IRE1P |
| SYNONYM | IRE1a |
| SYNONYM | hIRE1p |
| MIM | 604033 OMIM |
| HGNC | HGNC:3449 HGNC |
| Ensembl | ENSG00000178607 Ensembl |
| AllianceGenome | HGNC:3449 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000433197.4 | hg38 | chr17 | 64,039,142 | 64,130,144 | 91,003 |
| ENST00000606895.2 | hg38 | chr17 | 64,126,103 | 64,130,819 | 4,717 |
| ENST00000680493.1 | hg38 | chr17 | 64,093,493 | 64,130,059 | 36,567 |
| ENST00000680433.1 | hg38 | chr17 | 64,039,080 | 64,130,125 | 91,046 |
| ENST00000680433.1 | hg19 | chr17 | 62,116,440 | 62,207,485 | 91,046 |
| ENST00000433197.4 | hg19 | chr17 | 62,116,502 | 62,207,504 | 91,003 |
| ENST00000680493.1 | hg19 | chr17 | 62,170,853 | 62,207,419 | 36,567 |
| ENST00000606895.2 | hg19 | chr17 | 62,203,463 | 62,208,179 | 4,717 |
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