NSRP1 nuclear speckle splicing regulatory protein 1

Information
Symbol
NSRP1
Type
protein-coding
Description
nuclear speckle splicing regulatory protein 1
Entrez Gene ID
84081
Genome
hg19
Position
chr17:28,443,834-28,513,493
Genome
hg38
Position
chr17:30,116,816-30,186,475
MIM
616173 OMIM
HGNC
HGNC:25305 HGNC
Ensembl
ENSG00000126653 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 2
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
72
4
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 CCDC55
SYNONYM HSPC095
SYNONYM NEDSSBA
SYNONYM NSrp70
MIM 616173 OMIM
HGNC HGNC:25305 HGNC
Ensembl ENSG00000126653 Ensembl
AllianceGenome HGNC:25305
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000612959.4 hg38 chr17 30,116,807 30,186,474 69,668
ENST00000479218.6 hg38 chr17 30,116,827 30,128,236 11,410
ENST00000584423.5 hg38 chr17 30,116,781 30,128,163 11,383
ENST00000247026.10 hg38 chr17 30,116,816 30,186,475 69,660
ENST00000584423.5 hg19 chr17 28,443,799 28,455,181 11,383
ENST00000247026.10 hg19 chr17 28,443,834 28,513,493 69,660
ENST00000479218.6 hg19 chr17 28,443,845 28,455,254 11,410
ENST00000612959.4 hg19 chr17 28,443,825 28,513,492 69,668
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