ECSIT ECSIT signaling integrator

Information
Symbol
ECSIT
Type
protein-coding
Description
ECSIT signaling integrator
Entrez Gene ID
51295
Genome
hg19
Position
chr19:11,616,760-11,639,902
Genome
hg38
Position
chr19:11,505,945-11,529,087
MIM
608388 OMIM
HGNC
HGNC:29548 HGNC
Ensembl
ENSG00000130159 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
42
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 SITPEC
MIM 608388 OMIM
HGNC HGNC:29548 HGNC
Ensembl ENSG00000130159 Ensembl
AllianceGenome HGNC:29548
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000688351.1 hg38 chr19 11,505,945 11,529,087 23,143
ENST00000588998.5 hg38 chr19 11,505,929 11,529,096 23,168
ENST00000591104.5 hg38 chr19 11,506,184 11,528,865 22,682
ENST00000270517.12 hg38 chr19 11,505,929 11,529,134 23,206
ENST00000592312.5 hg38 chr19 11,506,301 11,529,124 22,824
ENST00000686541.1 hg38 chr19 11,505,945 11,529,122 23,178
ENST00000252440.11 hg38 chr19 11,505,929 11,529,137 23,209
ENST00000417981.6 hg38 chr19 11,506,002 11,529,172 23,171
ENST00000585318.6 hg38 chr19 11,505,945 11,529,132 23,188
ENST00000690346.1 hg38 chr19 11,505,945 11,529,154 23,210
ENST00000270517.12 hg19 chr19 11,616,744 11,639,949 23,206
ENST00000252440.11 hg19 chr19 11,616,744 11,639,952 23,209
ENST00000417981.6 hg19 chr19 11,616,817 11,639,987 23,171
ENST00000588998.5 hg19 chr19 11,616,744 11,639,911 23,168
ENST00000585318.6 hg19 chr19 11,616,760 11,639,947 23,188
ENST00000686541.1 hg19 chr19 11,616,760 11,639,937 23,178
ENST00000688351.1 hg19 chr19 11,616,760 11,639,902 23,143
ENST00000690346.1 hg19 chr19 11,616,760 11,639,969 23,210
ENST00000591104.5 hg19 chr19 11,616,999 11,639,680 22,682
ENST00000592312.5 hg19 chr19 11,617,116 11,639,939 22,824
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