SIM2 SIM bHLH transcription factor 2

Information
Symbol
SIM2
Type
protein-coding
Description
SIM bHLH transcription factor 2
Entrez Gene ID
6493
Genome
hg19
Position
chr21:38,071,415-38,122,218
Genome
hg38
Position
chr21:36,699,115-36,749,917
MIM
600892 OMIM
HGNC
HGNC:10883 HGNC
Ensembl
ENSG00000159263 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 0 6
Likely benign 0 10
Uncertain significance 0 92
Ranking
ClinVar
0
0
0
108
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
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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 HMC13F06
SYNONYM HMC29C01
SYNONYM SIM
SYNONYM bHLHe15
MIM 600892 OMIM
HGNC HGNC:10883 HGNC
Ensembl ENSG00000159263 Ensembl
AllianceGenome HGNC:10883
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000290399.11 hg38 chr21 36,699,115 36,749,917 50,803
ENST00000290399.11 hg19 chr21 38,071,415 38,122,218 50,804
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