REPIN1 replication initiator 1
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 2 |
Uncertain significance | 0 | 72 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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74 |
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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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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | AP4 |
SYNONYM | RIP60 |
SYNONYM | ZNF464 |
SYNONYM | Zfp464 |
MIM | 619039 OMIM |
HGNC | HGNC:17922 HGNC |
Ensembl | ENSG00000214022 Ensembl |
AllianceGenome | HGNC:17922 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000489432.7 | hg38 | chr7 | 150,368,822 | 150,374,039 | 5,218 |
ENST00000482680.1 | hg38 | chr7 | 150,368,812 | 150,371,803 | 2,992 |
ENST00000466559.1 | hg38 | chr7 | 150,368,792 | 150,372,099 | 3,308 |
ENST00000397281.6 | hg38 | chr7 | 150,368,790 | 150,374,044 | 5,255 |
ENST00000444957.3 | hg38 | chr7 | 150,368,790 | 150,374,044 | 5,255 |
ENST00000518514.1 | hg38 | chr7 | 150,368,871 | 150,371,542 | 2,672 |
ENST00000425389.2 | hg38 | chr7 | 150,371,164 | 150,374,039 | 2,876 |
ENST00000479668.5 | hg38 | chr7 | 150,368,272 | 150,374,039 | 5,768 |
ENST00000425389.2 | hg19 | chr7 | 150,068,253 | 150,071,128 | 2,876 |
ENST00000444957.3 | hg19 | chr7 | 150,065,879 | 150,071,133 | 5,255 |
ENST00000397281.6 | hg19 | chr7 | 150,065,879 | 150,071,133 | 5,255 |
ENST00000466559.1 | hg19 | chr7 | 150,065,881 | 150,069,188 | 3,308 |
ENST00000479668.5 | hg19 | chr7 | 150,065,361 | 150,071,128 | 5,768 |
ENST00000482680.1 | hg19 | chr7 | 150,065,901 | 150,068,892 | 2,992 |
ENST00000489432.7 | hg19 | chr7 | 150,065,911 | 150,071,128 | 5,218 |
ENST00000518514.1 | hg19 | chr7 | 150,065,960 | 150,068,631 | 2,672 |
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