SREBF1 sterol regulatory element binding transcription factor 1

Information
Symbol
SREBF1
Type
protein-coding
Description
sterol regulatory element binding transcription factor 1
Entrez Gene ID
6720
Genome
hg19
Position
chr17:17,715,387-17,740,301
Genome
hg38
Position
chr17:17,812,073-17,836,987
MIM
184756 OMIM
HGNC
HGNC:11289 HGNC
Ensembl
ENSG00000072310 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 16
Likely benign 0 16
Conflicting classifications of pathogenicity 0 4
not provided 2 0
Uncertain significance 0 140
Ranking
ClinVar
0
0
4
172
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
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 HMD
SYNONYM IFAP2
SYNONYM SREBP1
SYNONYM bHLHd1
MIM 184756 OMIM
HGNC HGNC:11289 HGNC
Ensembl ENSG00000072310 Ensembl
AllianceGenome HGNC:11289
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000355815.8 hg38 chr17 17,812,073 17,836,987 24,915
ENST00000261646.11 hg38 chr17 17,811,334 17,836,986 25,653
ENST00000395757.6 hg38 chr17 17,811,356 17,837,002 25,647
ENST00000261646.11 hg19 chr17 17,714,648 17,740,300 25,653
ENST00000395757.6 hg19 chr17 17,714,670 17,740,316 25,647
ENST00000355815.8 hg19 chr17 17,715,387 17,740,301 24,915
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