CTCFL CCCTC-binding factor like
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 10 |
not provided | 1 | 0 |
Uncertain significance | 0 | 82 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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96 |
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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
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 | |||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | BORIS |
SYNONYM | CT27 |
SYNONYM | CTCF-T |
SYNONYM | HMGB1L1 |
SYNONYM | dJ579F20.2 |
MIM | 607022 OMIM |
HGNC | HGNC:16234 HGNC |
Ensembl | ENSG00000124092 Ensembl |
AllianceGenome | HGNC:16234 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000609232.5 | hg38 | chr20 | 57,497,164 | 57,525,652 | 28,489 |
ENST00000608440.5 | hg38 | chr20 | 57,499,554 | 57,524,257 | 24,704 |
ENST00000608903.5 | hg38 | chr20 | 57,506,742 | 57,525,107 | 18,366 |
ENST00000502686.6 | hg38 | chr20 | 57,499,554 | 57,525,107 | 25,554 |
ENST00000243914.8 | hg38 | chr20 | 57,497,166 | 57,525,140 | 27,975 |
ENST00000429804.7 | hg38 | chr20 | 57,497,164 | 57,525,652 | 28,489 |
ENST00000608263.5 | hg38 | chr20 | 57,497,164 | 57,524,867 | 27,704 |
ENST00000371196.6 | hg38 | chr20 | 57,497,168 | 57,525,579 | 28,412 |
ENST00000422869.6 | hg38 | chr20 | 57,506,742 | 57,525,652 | 18,911 |
ENST00000481655.2 | hg38 | chr20 | 57,518,495 | 57,525,652 | 7,158 |
ENST00000539382.5 | hg38 | chr20 | 57,506,742 | 57,525,107 | 18,366 |
ENST00000608158.5 | hg38 | chr20 | 57,518,495 | 57,524,867 | 6,373 |
ENST00000433949.7 | hg38 | chr20 | 57,499,554 | 57,525,107 | 25,554 |
ENST00000608425.5 | hg38 | chr20 | 57,506,742 | 57,525,652 | 18,911 |
ENST00000423479.7 | hg38 | chr20 | 57,495,966 | 57,525,107 | 29,142 |
ENST00000432255.6 | hg38 | chr20 | 57,506,742 | 57,524,867 | 18,126 |
ENST00000423479.7 | hg19 | chr20 | 56,071,022 | 56,100,163 | 29,142 |
ENST00000429804.7 | hg19 | chr20 | 56,072,220 | 56,100,708 | 28,489 |
ENST00000243914.8 | hg19 | chr20 | 56,072,222 | 56,100,196 | 27,975 |
ENST00000371196.6 | hg19 | chr20 | 56,072,224 | 56,100,635 | 28,412 |
ENST00000433949.7 | hg19 | chr20 | 56,074,610 | 56,100,163 | 25,554 |
ENST00000432255.6 | hg19 | chr20 | 56,081,798 | 56,099,923 | 18,126 |
ENST00000422869.6 | hg19 | chr20 | 56,081,798 | 56,100,708 | 18,911 |
ENST00000481655.2 | hg19 | chr20 | 56,093,551 | 56,100,708 | 7,158 |
ENST00000502686.6 | hg19 | chr20 | 56,074,610 | 56,100,163 | 25,554 |
ENST00000608158.5 | hg19 | chr20 | 56,093,551 | 56,099,923 | 6,373 |
ENST00000608425.5 | hg19 | chr20 | 56,081,798 | 56,100,708 | 18,911 |
ENST00000608903.5 | hg19 | chr20 | 56,081,798 | 56,100,163 | 18,366 |
ENST00000539382.5 | hg19 | chr20 | 56,081,798 | 56,100,163 | 18,366 |
ENST00000608263.5 | hg19 | chr20 | 56,072,220 | 56,099,923 | 27,704 |
ENST00000608440.5 | hg19 | chr20 | 56,074,610 | 56,099,313 | 24,704 |
ENST00000609232.5 | hg19 | chr20 | 56,072,220 | 56,100,708 | 28,489 |
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