NFKBIE NFKB inhibitor epsilon
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 2 |
not provided | 1 | 0 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
48 |
![]() |
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
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 | IKBE |
MIM | 604548 OMIM |
HGNC | HGNC:7799 HGNC |
Ensembl | ENSG00000146232 Ensembl |
AllianceGenome | HGNC:7799 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000619360.6 | hg38 | chr6 | 44,258,166 | 44,265,551 | 7,386 |
ENST00000275015.9 | hg38 | chr6 | 44,258,166 | 44,265,788 | 7,623 |
ENST00000619360.6 | hg19 | chr6 | 44,225,903 | 44,233,288 | 7,386 |
ENST00000275015.9 | hg19 | chr6 | 44,225,903 | 44,233,525 | 7,623 |
Key | Value |
---|---|
strand | - |
start | 44,225,902 |
Gene Symbol | NFKBIE |
Entrez GeneId | 4,794 |
Chr Band | 6p21.1 |
end | 44,233,524 |
chr | chr6 |
Name | nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon |
Genome browser