TJAP1 tight junction associated protein 1

Information
Symbol
TJAP1
Type
protein-coding
Description
tight junction associated protein 1
Entrez Gene ID
93643
Genome
hg19
Position
chr6:43,445,308-43,474,292
Genome
hg38
Position
chr6:43,477,570-43,506,554
MIM
612658 OMIM
HGNC
HGNC:17949 HGNC
Ensembl
ENSG00000137221 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
66
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 PILT
SYNONYM TJP4
MIM 612658 OMIM
HGNC HGNC:17949 HGNC
Ensembl ENSG00000137221 Ensembl
AllianceGenome HGNC:17949
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000438588.6 hg38 chr6 43,489,584 43,506,556 16,973
ENST00000436109.6 hg38 chr6 43,477,523 43,506,556 29,034
ENST00000259751.5 hg38 chr6 43,477,573 43,506,553 28,981
ENST00000372452.5 hg38 chr6 43,477,573 43,506,553 28,981
ENST00000372445.9 hg38 chr6 43,477,523 43,506,556 29,034
ENST00000372444.6 hg38 chr6 43,477,523 43,506,556 29,034
ENST00000372449.6 hg38 chr6 43,477,570 43,506,554 28,985
ENST00000372444.6 hg19 chr6 43,445,261 43,474,294 29,034
ENST00000372445.9 hg19 chr6 43,445,261 43,474,294 29,034
ENST00000436109.6 hg19 chr6 43,445,261 43,474,294 29,034
ENST00000372449.6 hg19 chr6 43,445,308 43,474,292 28,985
ENST00000259751.5 hg19 chr6 43,445,311 43,474,291 28,981
ENST00000372452.5 hg19 chr6 43,445,311 43,474,291 28,981
ENST00000438588.6 hg19 chr6 43,457,322 43,474,294 16,973
Genome browser