TOP6BL TOP6B like initiator of meiotic double strand breaks
Information
- Symbol
- TOP6BL
- Type
- protein-coding
- Description
- TOP6B like initiator of meiotic double strand breaks
- Entrez Gene ID
- 79703
- Genome
- hg19
- Position
- chr11:66,512,240-66,610,987
- Genome
- hg38
- Position
- chr11:66,744,769-66,843,516
- MIM
- 616109 OMIM
- HGNC
- HGNC:26197 HGNC
- Ensembl
- ENSG00000173715 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 8 |
Likely benign | 0 | 18 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
0 |
![]() |
2 |
![]() |
46 |
![]() |
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
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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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | C11orf80 |
SYNONYM | HYDM4 |
SYNONYM | TOPOVIBL |
MIM | 616109 OMIM |
HGNC | HGNC:26197 HGNC |
Ensembl | ENSG00000173715 Ensembl |
AllianceGenome | HGNC:26197 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000642265.1 | hg38 | chr11 | 66,744,890 | 66,843,234 | 98,345 |
ENST00000525449.6 | hg38 | chr11 | 66,748,394 | 66,843,324 | 94,931 |
ENST00000525908.6 | hg38 | chr11 | 66,744,736 | 66,843,328 | 98,593 |
ENST00000527634.5 | hg38 | chr11 | 66,744,771 | 66,843,290 | 98,520 |
ENST00000532565.6 | hg38 | chr11 | 66,744,892 | 66,843,290 | 98,399 |
ENST00000540737.7 | hg38 | chr11 | 66,744,769 | 66,843,516 | 98,748 |
ENST00000525449.6 | hg19 | chr11 | 66,515,865 | 66,610,795 | 94,931 |
ENST00000525908.6 | hg19 | chr11 | 66,512,207 | 66,610,799 | 98,593 |
ENST00000527634.5 | hg19 | chr11 | 66,512,242 | 66,610,761 | 98,520 |
ENST00000532565.6 | hg19 | chr11 | 66,512,363 | 66,610,761 | 98,399 |
ENST00000540737.7 | hg19 | chr11 | 66,512,240 | 66,610,987 | 98,748 |
ENST00000642265.1 | hg19 | chr11 | 66,512,361 | 66,610,705 | 98,345 |
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