ANKLE2 ankyrin repeat and LEM domain containing 2
Information
- Symbol
- ANKLE2
- Type
- protein-coding
- Description
- ankyrin repeat and LEM domain containing 2
- Entrez Gene ID
- 23141
- Genome
- hg19
- Position
- chr12:133,302,089-133,338,418
- Genome
- hg38
- Position
- chr12:132,725,503-132,761,832
- MIM
- 616062 OMIM
- HGNC
- HGNC:29101 HGNC
- Ensembl
- ENSG00000176915 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 154 |
| Likely benign | 0 | 150 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| Uncertain significance | 0 | 162 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
68 |
 |
384 |
 |
4 |
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 | KIAA0692 |
| SYNONYM | LEMD7 |
| SYNONYM | Lem4 |
| SYNONYM | MCPH16 |
| MIM | 616062 OMIM |
| HGNC | HGNC:29101 HGNC |
| Ensembl | ENSG00000176915 Ensembl |
| AllianceGenome | HGNC:29101 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000542282.5 | hg38 | chr12 | 132,726,806 | 132,732,210 | 5,405 |
| ENST00000542657.5 | hg38 | chr12 | 132,727,133 | 132,732,100 | 4,968 |
| ENST00000357997.10 | hg38 | chr12 | 132,725,503 | 132,761,832 | 36,330 |
| ENST00000357997.10 | hg19 | chr12 | 133,302,089 | 133,338,418 | 36,330 |
| ENST00000542282.5 | hg19 | chr12 | 133,303,392 | 133,308,796 | 5,405 |
| ENST00000542657.5 | hg19 | chr12 | 133,303,719 | 133,308,686 | 4,968 |
Genome browser