JPT2 Jupiter microtubule associated homolog 2

Information
Symbol
JPT2
Type
protein-coding
Description
Jupiter microtubule associated homolog 2
Entrez Gene ID
90861
Genome
hg19
Position
chr16:1,728,280-1,752,087
Genome
hg38
Position
chr16:1,678,279-1,702,086
MIM
619241 OMIM
HGNC
HGNC:14137 HGNC
Ensembl
ENSG00000206053 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
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 :
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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 C16orf34
SYNONYM HN1L
SYNONYM L11
MIM 619241 OMIM
HGNC HGNC:14137 HGNC
Ensembl ENSG00000206053 Ensembl
AllianceGenome HGNC:14137
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000569765.5 hg38 chr16 1,678,313 1,699,266 20,954
ENST00000562684.5 hg38 chr16 1,678,277 1,701,490 23,214
ENST00000382710.8 hg38 chr16 1,680,337 1,699,269 18,933
ENST00000382711.9 hg38 chr16 1,678,280 1,699,237 20,958
ENST00000248098.8 hg38 chr16 1,678,279 1,702,086 23,808
ENST00000561516.5 hg38 chr16 1,678,279 1,699,599 21,321
ENST00000562684.5 hg19 chr16 1,728,278 1,751,491 23,214
ENST00000561516.5 hg19 chr16 1,728,280 1,749,600 21,321
ENST00000248098.8 hg19 chr16 1,728,280 1,752,087 23,808
ENST00000382711.9 hg19 chr16 1,728,281 1,749,238 20,958
ENST00000569765.5 hg19 chr16 1,728,314 1,749,267 20,954
ENST00000382710.8 hg19 chr16 1,730,338 1,749,270 18,933
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