IST1 IST1 factor associated with ESCRT-III

Information
Symbol
IST1
Type
protein-coding
Description
IST1 factor associated with ESCRT-III
Entrez Gene ID
9798
Genome
hg19
Position
chr16:71,928,622-71,964,542
Genome
hg38
Position
chr16:71,894,719-71,930,639
MIM
616434 OMIM
HGNC
HGNC:28977 HGNC
Ensembl
ENSG00000182149 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
Uncertain significance 0 30
Ranking
ClinVar
0
0
0
40
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
[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 CHMP8
SYNONYM OLC1
MIM 616434 OMIM
HGNC HGNC:28977 HGNC
Ensembl ENSG00000182149 Ensembl
AllianceGenome HGNC:28977
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000541571.6 hg38 chr16 71,893,934 71,927,973 34,040
ENST00000378798.9 hg38 chr16 71,895,553 71,929,008 33,456
ENST00000606369.5 hg38 chr16 71,895,493 71,930,639 35,147
ENST00000626438.1 hg38 chr16 71,915,641 71,922,511 6,871
ENST00000329908.12 hg38 chr16 71,895,543 71,929,010 33,468
ENST00000538850.5 hg38 chr16 71,895,548 71,928,152 32,605
ENST00000535424.5 hg38 chr16 71,894,719 71,930,639 35,921
ENST00000544564.5 hg38 chr16 71,890,569 71,927,890 37,322
ENST00000378799.11 hg38 chr16 71,895,531 71,931,199 35,669
ENST00000329908.12 hg19 chr16 71,929,446 71,962,913 33,468
ENST00000378798.9 hg19 chr16 71,929,456 71,962,911 33,456
ENST00000378799.11 hg19 chr16 71,929,434 71,965,102 35,669
ENST00000535424.5 hg19 chr16 71,928,622 71,964,542 35,921
ENST00000538850.5 hg19 chr16 71,929,451 71,962,055 32,605
ENST00000541571.6 hg19 chr16 71,927,837 71,961,876 34,040
ENST00000544564.5 hg19 chr16 71,924,472 71,961,793 37,322
ENST00000606369.5 hg19 chr16 71,929,396 71,964,542 35,147
ENST00000626438.1 hg19 chr16 71,949,544 71,956,414 6,871
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