ENST00000407019.6 NUP50

Information
Transcript ID
ENST00000407019.6
Genome
hg19
Position
chr22:45,559,867-45,580,711
Strand
+
CDS length
1,323
Amino acid length
441
Gene symbol
NUP50
Gene type
protein-coding
Gene description
nucleoporin 50
Gene Entrez Gene ID
10762
Variants

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Target data :
MGeND data only
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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
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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 :
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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
Exon
Exon number Start Stop
1 45,559,867 45,560,177
2 45,564,049 45,564,127
3 45,566,869 45,567,024
4 45,567,481 45,567,564
5 45,571,775 45,571,961
6 45,574,119 45,574,781
7 45,577,167 45,577,248
8 45,579,283 45,579,401
9 45,580,334 45,580,711
CDS
Exon number Type Start Stop
4 CDS 45,567,496 45,567,564
5 CDS 45,571,775 45,571,961
6 CDS 45,574,119 45,574,781
7 CDS 45,577,167 45,577,248
8 CDS 45,579,283 45,579,401
9 CDS 45,580,334 45,580,536
Other genome
Genome Chromosome Start End Links
hg38 chr22 45,163,986 45,184,830 Link
CDS sequence
ATGGCCAGTGAGGAAGTCTTGAAGAATAGAGCCATAAAGAAAGCAAAGCGCAGAAATGTTGGATTTGAATCTGACACTGGAGGAGCCTTTAAAGGTTTTAAAGGTTTGGTGGTACCTTCTGGAGGAGGACGCTTTTCTGGATTTGGTAGTGGCGCTGGAGGGAAGCCTTTGGAAGGACTGTCGAATGGAAACAACATAACCAGTGCCCCTCCCTTCGCCAGTGCAAAGGCAGCGGCAGATCCCAAGGTAGCCTTTGGTTCTCTTGCTGCAAATGGCCCTACCACCTTGGTTGATAAAGTTTCAAATCCCAAAACTAATGGGGACAGTCAGCAGCCCTCCTCCTCTGGCCTTGCTTCCAGTAAAGCTTGTGTCGGAAATGCCTATCACAAGCAGTTGGCCGCCTTGAACTGCTCCGTGCGGGATTGGATAGTGAAGCACGTGAATACAAACCCCCTCTGTGATCTGACACCTATCTTTAAAGACTATGAGAAATATTTAGCAAACATTGAACAGCAACACGGGAACAGTGGCAGGAATTCTGAAAGTGAATCTAACAAAGTGGCAGCTGAAACACAGTCTCCTTCCCTTTTTGGCTCAACAAAATTACAGCAAGAGTCAACGTTTTTGTTTCATGGCAACAAAACTGAAGATACACCTGACAAGAAGATGGAGGTGGCATCTGAAAAGAAAACGGACCCATCATCACTAGGAGCGACAAGTGCCTCATTTAATTTCGGCAAGAAAGTTGATAGCTCTGTTTTGGGCTCATTAAGCTCTGTCCCCCTGACTGGATTTTCTTTCTCCCCTGGAAACTCCAGTTTATTTGGCAAAGATACTACCCAGAGTAAACCAGTCTCTTCACCATTTCCCACTAAACCATTGGAGGGCCAAGCAGAAGGTGACAGTGGTGAATGCAAAGGTGGAGATGAAGAAGAGAATGATGAGCCACCCAAAGTAGTAGTTACCGAAGTAAAAGAAGAAGATGCTTTTTACTCCAAAAAGTGTAAACTGTTTTACAAGAAAGACAATGAGTTTAAAGAGAAAGGCATAGGTACTCTGCATTTAAAACCTACAGCAAATCAGAAGACACAGCTTTTGGTGCGGGCAGACACCAATTTAGGCAACATATTGCTGAACGTTCTGATTCCACCCAATATGCCATGTACGCGAACAGGGAAGAATAACGTTCTTATCGTCTGTGTTCCAAATCCACCAATTGACGAGAAGAATGCCACCATGCCAGTCACCATGTTGATTCGGGTAAAAACCAGCGAGGATGCAGACGAGTTGCACAAAATTTTACTGGAGAAAAAGGATGCCTGA
Amino sequence
MASEEVLKNRAIKKAKRRNVGFESDTGGAFKGFKGLVVPSGGGRFSGFGSGAGGKPLEGLSNGNNITSAPPFASAKAAADPKVAFGSLAANGPTTLVDKVSNPKTNGDSQQPSSSGLASSKACVGNAYHKQLAALNCSVRDWIVKHVNTNPLCDLTPIFKDYEKYLANIEQQHGNSGRNSESESNKVAAETQSPSLFGSTKLQQESTFLFHGNKTEDTPDKKMEVASEKKTDPSSLGATSASFNFGKKVDSSVLGSLSSVPLTGFSFSPGNSSLFGKDTTQSKPVSSPFPTKPLEGQAEGDSGECKGGDEEENDEPPKVVVTEVKEEDAFYSKKCKLFYKKDNEFKEKGIGTLHLKPTANQKTQLLVRADTNLGNILLNVLIPPNMPCTRTGKNNVLIVCVPNPPIDEKNATMPVTMLIRVKTSEDADELHKILLEKKDA*