SUPT5H SPT5 homolog, DSIF elongation factor subunit

Information
Symbol
SUPT5H
Type
protein-coding
Description
SPT5 homolog, DSIF elongation factor subunit
Entrez Gene ID
6829
Genome
hg19
Position
chr19:39,932,283-39,967,310
Genome
hg38
Position
chr19:39,441,643-39,476,670
MIM
602102 OMIM
HGNC
HGNC:11469 HGNC
Ensembl
ENSG00000196235 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 8
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
82
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 SPT5
SYNONYM SPT5H
SYNONYM Tat-CT1
MIM 602102 OMIM
HGNC HGNC:11469 HGNC
Ensembl ENSG00000196235 Ensembl
AllianceGenome HGNC:11469
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000598725.5 hg38 chr19 39,445,684 39,476,670 30,987
ENST00000402194.6 hg38 chr19 39,445,546 39,476,666 31,121
ENST00000599117.5 hg38 chr19 39,441,643 39,476,670 35,028
ENST00000359191.10 hg38 chr19 39,445,644 39,476,670 31,027
ENST00000432763.7 hg38 chr19 39,445,582 39,476,670 31,089
ENST00000402194.6 hg19 chr19 39,936,186 39,967,306 31,121
ENST00000432763.7 hg19 chr19 39,936,222 39,967,310 31,089
ENST00000359191.10 hg19 chr19 39,936,284 39,967,310 31,027
ENST00000598725.5 hg19 chr19 39,936,324 39,967,310 30,987
ENST00000599117.5 hg19 chr19 39,932,283 39,967,310 35,028
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