TUB TUB bipartite transcription factor
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 16 |
Likely pathogenic | 0 | 4 |
Benign | 0 | 40 |
Likely benign | 0 | 384 |
association | 0 | 2 |
Conflicting classifications of pathogenicity | 0 | 22 |
Uncertain significance | 0 | 496 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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198 |
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734 |
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2 |
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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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 |
---|---|
SYNONYM | RDOB |
SYNONYM | rd5 |
MIM | 601197 OMIM |
HGNC | HGNC:12406 HGNC |
Ensembl | ENSG00000166402 Ensembl |
AllianceGenome | HGNC:12406 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000299506.3 | hg38 | chr11 | 8,081,211 | 8,106,243 | 25,033 |
ENST00000534099.5 | hg38 | chr11 | 8,019,244 | 8,101,780 | 82,537 |
ENST00000305253.8 | hg38 | chr11 | 8,038,633 | 8,106,112 | 67,480 |
ENST00000534099.5 | hg19 | chr11 | 8,040,791 | 8,123,327 | 82,537 |
ENST00000305253.8 | hg19 | chr11 | 8,060,180 | 8,127,659 | 67,480 |
ENST00000299506.3 | hg19 | chr11 | 8,102,758 | 8,127,790 | 25,033 |
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