SPESP1 sperm equatorial segment protein 1

Information
Symbol
SPESP1
Type
protein-coding
Description
sperm equatorial segment protein 1
Entrez Gene ID
246777
Genome
hg19
Position
chr15:69,222,864-69,239,150
Genome
hg38
Position
chr15:68,930,525-68,946,811
MIM
609399 OMIM
HGNC
HGNC:15570 HGNC
Ensembl
ENSG00000258484 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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 ESP
SYNONYM SP-ESP
MIM 609399 OMIM
HGNC HGNC:15570 HGNC
Ensembl ENSG00000258484 Ensembl
AllianceGenome HGNC:15570
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000310673.4 hg38 chr15 68,930,525 68,946,811 16,287
ENST00000310673.4 hg19 chr15 69,222,864 69,239,150 16,287
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