SF1 splicing factor 1

Information
Symbol
SF1
Type
protein-coding
Description
splicing factor 1
Entrez Gene ID
7536
Genome
hg19
Position
chr11:64,532,083-64,545,993
Genome
hg38
Position
chr11:64,764,611-64,778,521
MIM
601516 OMIM
HGNC
HGNC:12950 HGNC
Ensembl
ENSG00000168066 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Likely benign 0 8
not provided 2 0
Uncertain significance 0 74
Ranking
ClinVar
0
0
0
84
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
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 BBP
SYNONYM D11S636
SYNONYM MBBP
SYNONYM ZCCHC25
SYNONYM ZFM1
SYNONYM ZNF162
MIM 601516 OMIM
HGNC HGNC:12950 HGNC
Ensembl ENSG00000168066 Ensembl
AllianceGenome HGNC:12950
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000706684.1 hg38 chr11 64,764,614 64,778,533 13,920
ENST00000706685.1 hg38 chr11 64,764,809 64,778,528 13,720
ENST00000433274.6 hg38 chr11 64,765,652 64,777,760 12,109
ENST00000334944.9 hg38 chr11 64,764,606 64,778,786 14,181
ENST00000681407.1 hg38 chr11 64,764,611 64,778,521 13,911
ENST00000377390.8 hg38 chr11 64,764,606 64,778,542 13,937
ENST00000377394.7 hg38 chr11 64,764,606 64,778,747 14,142
ENST00000486867.2 hg38 chr11 64,764,606 64,778,771 14,166
ENST00000227503.13 hg38 chr11 64,764,606 64,778,747 14,142
ENST00000377387.5 hg38 chr11 64,764,606 64,778,469 13,864
ENST00000377387.5 hg19 chr11 64,532,078 64,545,941 13,864
ENST00000377390.8 hg19 chr11 64,532,078 64,546,014 13,937
ENST00000227503.13 hg19 chr11 64,532,078 64,546,219 14,142
ENST00000377394.7 hg19 chr11 64,532,078 64,546,219 14,142
ENST00000334944.9 hg19 chr11 64,532,078 64,546,258 14,181
ENST00000433274.6 hg19 chr11 64,533,124 64,545,232 12,109
ENST00000681407.1 hg19 chr11 64,532,083 64,545,993 13,911
ENST00000706684.1 hg19 chr11 64,532,086 64,546,005 13,920
ENST00000706685.1 hg19 chr11 64,532,281 64,546,000 13,720
ENST00000486867.2 hg19 chr11 64,532,078 64,546,243 14,166
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