SF3B4 splicing factor 3b subunit 4

Information
Symbol
SF3B4
Type
protein-coding
Description
splicing factor 3b subunit 4
Entrez Gene ID
10262
Genome
hg19
Position
chr1:149,895,209-149,899,695
Genome
hg38
Position
chr1:149,923,317-149,927,803
MIM
605593 OMIM
HGNC
HGNC:10771 HGNC
Ensembl
ENSG00000143368 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 64
Likely pathogenic 0 10
Benign 0 30
Likely benign 0 54
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 46
Ranking
ClinVar
0
0
26
140
32
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
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 AFD1
SYNONYM Hsh49
SYNONYM SAP49
SYNONYM SF3b49
MIM 605593 OMIM
HGNC HGNC:10771 HGNC
Ensembl ENSG00000143368 Ensembl
AllianceGenome HGNC:10771
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000271628.9 hg38 chr1 149,923,317 149,927,803 4,487
ENST00000271628.9 hg19 chr1 149,895,209 149,899,695 4,487
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