GEMIN7 gem nuclear organelle associated protein 7
Information
- Symbol
- GEMIN7
- Type
- protein-coding
- Description
- gem nuclear organelle associated protein 7
- Entrez Gene ID
- 79760
- Genome
- hg19
- Position
- chr19:45,582,518-45,594,776
- Genome
- hg38
- Position
- chr19:45,079,260-45,091,518
- MIM
- 607419 OMIM
- HGNC
- HGNC:20045 HGNC
- Ensembl
- ENSG00000142252 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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12 |
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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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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 | SIP3 |
MIM | 607419 OMIM |
HGNC | HGNC:20045 HGNC |
Ensembl | ENSG00000142252 Ensembl |
AllianceGenome | HGNC:20045 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000270257.9 | hg38 | chr19 | 45,079,260 | 45,091,518 | 12,259 |
ENST00000391951.2 | hg38 | chr19 | 45,079,269 | 45,090,713 | 11,445 |
ENST00000591607.1 | hg38 | chr19 | 45,079,195 | 45,090,869 | 11,675 |
ENST00000591747.5 | hg38 | chr19 | 45,079,258 | 45,090,537 | 11,280 |
ENST00000591607.1 | hg19 | chr19 | 45,582,453 | 45,594,127 | 11,675 |
ENST00000591747.5 | hg19 | chr19 | 45,582,516 | 45,593,795 | 11,280 |
ENST00000270257.9 | hg19 | chr19 | 45,582,518 | 45,594,776 | 12,259 |
ENST00000391951.2 | hg19 | chr19 | 45,582,527 | 45,593,971 | 11,445 |
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