ENST00000407019.6 NUP50

Information
Transcript ID
ENST00000407019.6
Genome
hg38
Position
chr22:45,163,986-45,184,830
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
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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
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Target data :
MGeND data only
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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 45,163,986 45,164,296
2 45,168,168 45,168,246
3 45,170,988 45,171,143
4 45,171,600 45,171,683
5 45,175,894 45,176,080
6 45,178,238 45,178,900
7 45,181,286 45,181,367
8 45,183,402 45,183,520
9 45,184,453 45,184,830
CDS
Exon number Type Start Stop
4 CDS 45,171,615 45,171,683
5 CDS 45,175,894 45,176,080
6 CDS 45,178,238 45,178,900
7 CDS 45,181,286 45,181,367
8 CDS 45,183,402 45,183,520
9 CDS 45,184,453 45,184,655
Other genome
Genome Chromosome Start End Links
hg19 chr22 45,559,867 45,580,711 Link
CDS sequence
ATGGCCAGTGAGGAAGTCTTGAAGAATAGAGCCATAAAGAAAGCAAAGCGCAGAAATGTTGGATTTGAATCTGACACTGGAGGAGCCTTTAAAGGTTTTAAAGGTTTGGTGGTACCTTCTGGAGGAGGACGCTTTTCTGGATTTGGTAGTGGCGCTGGAGGGAAGCCTTTGGAAGGACTGTCGAATGGAAACAACATAACCAGTGCCCCTCCCTTCGCCAGTGCAAAGGCAGCGGCAGATCCCAAGGTAGCCTTTGGTTCTCTTGCTGCAAATGGCCCTACCACCTTGGTTGATAAAGTTTCAAATCCCAAAACTAATGGGGACAGTCAGCAGCCCTCCTCCTCTGGCCTTGCTTCCAGTAAAGCTTGTGTCGGAAATGCCTATCACAAGCAGTTGGCCGCCTTGAACTGCTCCGTGCGGGATTGGATAGTGAAGCACGTGAATACAAACCCCCTCTGTGATCTGACACCTATCTTTAAAGACTATGAGAAATATTTAGCAAACATTGAACAGCAACACGGGAACAGTGGCAGGAATTCTGAAAGTGAATCTAACAAAGTGGCAGCTGAAACACAGTCTCCTTCCCTTTTTGGCTCAACAAAATTACAGCAAGAGTCAACGTTTTTGTTTCATGGCAACAAAACTGAAGATACACCTGACAAGAAGATGGAGGTGGCATCTGAAAAGAAAACGGACCCATCATCACTAGGAGCGACAAGTGCCTCATTTAATTTCGGCAAGAAAGTTGATAGCTCTGTTTTGGGCTCATTAAGCTCTGTCCCCCTGACTGGATTTTCTTTCTCCCCTGGAAACTCCAGTTTATTTGGCAAAGATACTACCCAGAGTAAACCAGTCTCTTCACCATTTCCCACTAAACCATTGGAGGGCCAAGCAGAAGGTGACAGTGGTGAATGCAAAGGTGGAGATGAAGAAGAGAATGATGAGCCACCCAAAGTAGTAGTTACCGAAGTAAAAGAAGAAGATGCTTTTTACTCCAAAAAGTGTAAACTGTTTTACAAGAAAGACAATGAGTTTAAAGAGAAAGGCATAGGTACTCTGCATTTAAAACCTACAGCAAATCAGAAGACACAGCTTTTGGTGCGGGCAGACACCAATTTAGGCAACATATTGCTGAACGTTCTGATTCCACCCAATATGCCATGTACGCGAACAGGGAAGAATAACGTTCTTATCGTCTGTGTTCCAAATCCACCAATTGACGAGAAGAATGCCACCATGCCAGTCACCATGTTGATTCGGGTAAAAACCAGCGAGGATGCAGACGAGTTGCACAAAATTTTACTGGAGAAAAAGGATGCCTGA
Amino sequence
MASEEVLKNRAIKKAKRRNVGFESDTGGAFKGFKGLVVPSGGGRFSGFGSGAGGKPLEGLSNGNNITSAPPFASAKAAADPKVAFGSLAANGPTTLVDKVSNPKTNGDSQQPSSSGLASSKACVGNAYHKQLAALNCSVRDWIVKHVNTNPLCDLTPIFKDYEKYLANIEQQHGNSGRNSESESNKVAAETQSPSLFGSTKLQQESTFLFHGNKTEDTPDKKMEVASEKKTDPSSLGATSASFNFGKKVDSSVLGSLSSVPLTGFSFSPGNSSLFGKDTTQSKPVSSPFPTKPLEGQAEGDSGECKGGDEEENDEPPKVVVTEVKEEDAFYSKKCKLFYKKDNEFKEKGIGTLHLKPTANQKTQLLVRADTNLGNILLNVLIPPNMPCTRTGKNNVLIVCVPNPPIDEKNATMPVTMLIRVKTSEDADELHKILLEKKDA*