ASCC1 activating signal cointegrator 1 complex subunit 1

Information
Symbol
ASCC1
Type
protein-coding
Description
activating signal cointegrator 1 complex subunit 1
Entrez Gene ID
51008
Genome
hg19
Position
chr10:73,856,279-73,976,033
Genome
hg38
Position
chr10:72,096,521-72,216,275
MIM
614215 OMIM
HGNC
HGNC:24268 HGNC
Ensembl
ENSG00000138303 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 32
Likely pathogenic 0 14
Benign 0 64
Likely benign 0 152
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 96
Ranking
ClinVar
0
0
44
298
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 :
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 ASC1p50
SYNONYM CGI-18
SYNONYM SMABF2
SYNONYM p50
MIM 614215 OMIM
HGNC HGNC:24268 HGNC
Ensembl ENSG00000138303 Ensembl
AllianceGenome HGNC:24268
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342444.8 hg38 chr10 72,096,521 72,216,275 119,755
ENST00000672957.1 hg38 chr10 72,096,032 72,216,276 120,245
ENST00000672940.1 hg38 chr10 72,097,043 72,216,277 119,235
ENST00000317168.11 hg38 chr10 72,096,520 72,216,307 119,788
ENST00000394915.7 hg38 chr10 72,102,369 72,216,109 113,741
ENST00000672774.1 hg38 chr10 72,096,545 72,215,992 119,448
ENST00000317126.8 hg38 chr10 72,097,254 72,217,134 119,881
ENST00000317168.11 hg19 chr10 73,856,278 73,976,065 119,788
ENST00000342444.8 hg19 chr10 73,856,279 73,976,033 119,755
ENST00000317126.8 hg19 chr10 73,857,012 73,976,892 119,881
ENST00000394915.7 hg19 chr10 73,862,127 73,975,867 113,741
ENST00000672957.1 hg19 chr10 73,855,790 73,976,034 120,245
ENST00000672774.1 hg19 chr10 73,856,303 73,975,750 119,448
ENST00000672940.1 hg19 chr10 73,856,801 73,976,035 119,235
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