SHOX SHOX homeobox

Information
Symbol
SHOX
Type
protein-coding
Description
SHOX homeobox
Entrez Gene ID
6473
Genome
hg19
Position
chrX:591,526-612,319
Genome
hg19
Position
chrY:541,526-562,319
Genome
hg38
Position
chrX:630,791-651,584
Genome
hg38
Position
chrY:630,791-651,584
MIM
312865 OMIM
HGNC
HGNC:10853 HGNC
Ensembl
ENSG00000185960 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 18 136
Likely pathogenic 0 60
Benign 0 112
Likely benign 0 68
Conflicting classifications of pathogenicity 0 52
not provided 6 0
Uncertain significance 0 348
Ranking
ClinVar
0
0
104
500
80
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 GCFX
SYNONYM PHOG
SYNONYM SHOX1
SYNONYM SHOXY
SYNONYM SS
MIM 312865 OMIM
MIM 400020 OMIM
HGNC HGNC:10853 HGNC
Ensembl ENSG00000185960 Ensembl
Ensembl ENSG00000292354 Ensembl
AllianceGenome HGNC:10853
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000334060.8 hg38 chrX 624,344 659,411 35,068
ENST00000381578.6 hg38 chrX 624,344 646,823 22,480
ENST00000381575.6 hg38 chrX 630,807 659,411 28,605
ENST00000686671.1 hg38 chrX 630,791 651,584 20,794
ENST00000711145.1 hg38 chrY 624,344 646,823 22,480
ENST00000711143.1 hg38 chrY 624,344 659,411 35,068
ENST00000711141.1 hg38 chrY 630,807 659,411 28,605
ENST00000711142.1 hg38 chrY 630,791 651,584 20,794
ENST00000381578.6 hg19 chrX 585,079 607,558 22,480
ENST00000334060.8 hg19 chrX 585,079 620,146 35,068
ENST00000686671.1 hg19 chrX 591,526 612,319 20,794
ENST00000381575.6 hg19 chrX 591,542 620,146 28,605
ENST00000711145.1 hg19 chrY 535,079 557,558 22,480
ENST00000711143.1 hg19 chrY 535,079 570,146 35,068
ENST00000711142.1 hg19 chrY 541,526 562,319 20,794
ENST00000711141.1 hg19 chrY 541,542 570,146 28,605
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