UBTF upstream binding transcription factor

Information
Symbol
UBTF
Type
protein-coding
Description
upstream binding transcription factor
Entrez Gene ID
7343
Genome
hg19
Position
chr17:42,282,401-42,298,994
Genome
hg38
Position
chr17:44,205,033-44,221,626
MIM
600673 OMIM
HGNC
HGNC:12511 HGNC
Ensembl
ENSG00000108312 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 8
Benign 0 40
Likely benign 0 22
not provided 1 0
Uncertain significance 0 80
Ranking
ClinVar
0
0
10
138
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
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
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
TypeID
SYNONYM CONDBA
SYNONYM NOR-90
SYNONYM UBF
SYNONYM UBF-1
SYNONYM UBF1
SYNONYM UBF2
MIM 600673 OMIM
HGNC HGNC:12511 HGNC
Ensembl ENSG00000108312 Ensembl
AllianceGenome HGNC:12511
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000533177.5 hg38 chr17 44,206,595 44,219,121 12,527
ENST00000302904.8 hg38 chr17 44,205,033 44,221,626 16,594
ENST00000436088.6 hg38 chr17 44,205,040 44,219,675 14,636
ENST00000529383.5 hg38 chr17 44,207,240 44,218,502 11,263
ENST00000704746.1 hg38 chr17 44,207,182 44,219,060 11,879
ENST00000704742.1 hg38 chr17 44,207,189 44,221,234 14,046
ENST00000704741.1 hg38 chr17 44,207,211 44,220,915 13,705
ENST00000343638.9 hg38 chr17 44,205,033 44,220,963 15,931
ENST00000527034.5 hg38 chr17 44,206,594 44,220,854 14,261
ENST00000526094.5 hg38 chr17 44,207,240 44,218,502 11,263
ENST00000393606.7 hg38 chr17 44,207,116 44,219,750 12,635
ENST00000302904.8 hg19 chr17 42,282,401 42,298,994 16,594
ENST00000343638.9 hg19 chr17 42,282,401 42,298,331 15,931
ENST00000436088.6 hg19 chr17 42,282,408 42,297,043 14,636
ENST00000527034.5 hg19 chr17 42,283,962 42,298,222 14,261
ENST00000533177.5 hg19 chr17 42,283,963 42,296,489 12,527
ENST00000393606.7 hg19 chr17 42,284,484 42,297,118 12,635
ENST00000526094.5 hg19 chr17 42,284,608 42,295,870 11,263
ENST00000529383.5 hg19 chr17 42,284,608 42,295,870 11,263
ENST00000704741.1 hg19 chr17 42,284,579 42,298,283 13,705
ENST00000704742.1 hg19 chr17 42,284,557 42,298,602 14,046
ENST00000704746.1 hg19 chr17 42,284,550 42,296,428 11,879
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