TGM5 transglutaminase 5

Information
Symbol
TGM5
Type
protein-coding
Description
transglutaminase 5
Entrez Gene ID
9333
Genome
hg19
Position
chr15:43,524,788-43,559,126
Genome
hg38
Position
chr15:43,232,590-43,266,928
MIM
603805 OMIM
HGNC
HGNC:11781 HGNC
Ensembl
ENSG00000104055 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 16
Benign 0 60
Likely benign 0 30
Conflicting classifications of pathogenicity 0 20
Uncertain significance 0 152
Ranking
ClinVar
0
0
42
224
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 PSS2
SYNONYM TG(X)
SYNONYM TGASE5
SYNONYM TGASEX
SYNONYM TGM6
SYNONYM TGMX
SYNONYM TGX
MIM 603805 OMIM
HGNC HGNC:11781 HGNC
Ensembl ENSG00000104055 Ensembl
AllianceGenome HGNC:11781
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000349114.8 hg38 chr15 43,233,158 43,266,857 33,700
ENST00000220420.10 hg38 chr15 43,232,590 43,266,928 34,339
ENST00000220420.10 hg19 chr15 43,524,788 43,559,126 34,339
ENST00000349114.8 hg19 chr15 43,525,356 43,559,055 33,700
Genome browser