DIABLO diablo IAP-binding mitochondrial protein
Information
- Symbol
- DIABLO
- Type
- protein-coding
- Description
- diablo IAP-binding mitochondrial protein
- Entrez Gene ID
- 56616
- Genome
- hg19
- Position
- chr12:122,692,215-122,710,599
- Genome
- hg38
- Position
- chr12:122,207,668-122,226,052
- MIM
- 605219 OMIM
- HGNC
- HGNC:21528 HGNC
- Ensembl
- ENSG00000184047 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 44 |
| Likely benign | 0 | 66 |
| Conflicting classifications of pathogenicity | 0 | 20 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 76 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
26 |
 |
150 |
 |
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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| Category | : |
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| 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 | DFNA64 |
| SYNONYM | SMAC |
| MIM | 605219 OMIM |
| HGNC | HGNC:21528 HGNC |
| Ensembl | ENSG00000184047 Ensembl |
| AllianceGenome | HGNC:21528 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000267169.11 | hg38 | chr12 | 122,207,794 | 122,226,039 | 18,246 |
| ENST00000353548.11 | hg38 | chr12 | 122,207,669 | 122,226,052 | 18,384 |
| ENST00000464942.7 | hg38 | chr12 | 122,207,668 | 122,226,052 | 18,385 |
| ENST00000464942.7 | hg19 | chr12 | 122,692,215 | 122,710,599 | 18,385 |
| ENST00000353548.11 | hg19 | chr12 | 122,692,216 | 122,710,599 | 18,384 |
| ENST00000267169.11 | hg19 | chr12 | 122,692,341 | 122,710,586 | 18,246 |
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