ENST00000375006.8 PFKFB1

Information
Transcript ID
ENST00000375006.8
Genome
hg19
Position
chrX:54,959,394-55,020,621
Strand
-
CDS length
1,416
Amino acid length
472
Gene symbol
PFKFB1
Gene type
protein-coding
Gene description
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Gene Entrez Gene ID
5207
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
14 54,959,394 54,959,895
13 54,960,254 54,960,318
12 54,961,380 54,961,442
11 54,964,028 54,964,157
10 54,971,872 54,971,976
9 54,975,508 54,975,654
8 54,978,338 54,978,545
7 54,982,586 54,982,707
6 54,984,739 54,984,795
5 54,985,284 54,985,358
4 54,986,260 54,986,326
3 54,987,257 54,987,350
2 54,989,690 54,989,815
1 55,020,344 55,020,621
CDS
Exon number Type Start Stop
14 CDS 54,959,836 54,959,895
13 CDS 54,960,254 54,960,318
12 CDS 54,961,380 54,961,442
11 CDS 54,964,028 54,964,157
10 CDS 54,971,872 54,971,976
9 CDS 54,975,508 54,975,654
8 CDS 54,978,338 54,978,545
7 CDS 54,982,586 54,982,707
6 CDS 54,984,739 54,984,795
5 CDS 54,985,284 54,985,358
4 CDS 54,986,260 54,986,326
3 CDS 54,987,257 54,987,350
2 CDS 54,989,690 54,989,815
1 CDS 55,020,344 55,020,440
Other genome
Genome Chromosome Start End Links
hg38 chrX 54,932,961 54,994,188 Link
CDS sequence
ATGTCTCCAGAGATGGGAGAGCTCACCCAAACCAGGTTGCAGAAGATCTGGATTCCACACAGCAGCGGCAGCAGCAGGCTGCAACGGAGAAGGGGCTCATCCATACCCCAGTTTACCAATTCCCCCACAATGGTGATCATGGTGGGTTTACCAGCTCGAGGCAAGACCTATATCTCCACAAAGCTCACACGATATCTCAACTGGATAGGAACACCAACTAAAGTGTTTAATTTAGGCCAGTATCGACGAGAGGCAGTGAGCTACAAGAACTATGAATTCTTTCTTCCAGACAACATGGAAGCCCTGCAAATCAGGAAGCAGTGCGCCCTGGCAGCCCTGAAGGATGTTCACAACTATCTCAGCCATGAGGAAGGTCATGTTGCGGTTTTTGATGCCACCAACACTACCAGAGAACGACGGTCACTGATCCTGCAGTTTGCAAAAGAACATGGTTACAAGGTGTTTTTCATTGAGTCCATTTGTAATGACCCTGGCATAATTGCAGAAAACATCAGGCAAGTGAAACTTGGCAGCCCTGATTATATAGACTGTGACCGGGAAAAGGTTCTGGAAGACTTTCTAAAGAGAATTGAGTGCTATGAGGTCAACTACCAACCCTTGGATGAGGAACTGGACAGCCACCTGTCCTACATCAAGATCTTCGACGTGGGCACACGCTACATGGTGAACCGAGTGCAGGATCACATCCAGAGCCGCACAGTCTACTACCTCATGAATATCCATGTCACACCTCGCTCCATCTACCTTTGCCGACATGGCGAGAGTGAACTCAACATCAGAGGCCGCATCGGAGGTGACTCTGGCCTCTCAGTTCGCGGCAAGCAGTATGCCTATGCCCTGGCCAACTTCATTCAGTCCCAGGGCATCAGCTCCCTGAAGGTGTGGACCAGTCACATGAAGAGGACCATCCAGACAGCTGAGGCCCTGGGTGTCCCCTATGAGCAGTGGAAGGCCCTGAATGAGATTGATGCGGGTGTCTGTGAGGAGATGACCTATGAAGAAATCCAGGAACATTACCCTGAAGAATTTGCACTGCGAGACCAAGATAAATATCGCTACCGCTATCCCAAGGGAGAGTCCTATGAGGATCTGGTTCAGCGTCTGGAGCCAGTGATAATGGAGCTAGAACGACAGGAGAATGTACTGGTGATCTGCCACCAGGCTGTCATGCGGTGCCTCCTGGCCTATTTCCTGGATAAAAGTTCAGATGAGCTTCCATATCTCAAGTGCCCTCTGCACACAGTGCTCAAACTCACTCCTGTGGCTTATGGCTGCAAAGTGGAATCCATCTACCTGAATGTGGAGGCCGTGAACACACACCGGGAGAAGCCTGAGAATGTGGACATCACCCGGGAACCTGAGGAAGCCCTGGATACTGTCCCAGCCCACTACTGA
Amino sequence
MSPEMGELTQTRLQKIWIPHSSGSSRLQRRRGSSIPQFTNSPTMVIMVGLPARGKTYISTKLTRYLNWIGTPTKVFNLGQYRREAVSYKNYEFFLPDNMEALQIRKQCALAALKDVHNYLSHEEGHVAVFDATNTTRERRSLILQFAKEHGYKVFFIESICNDPGIIAENIRQVKLGSPDYIDCDREKVLEDFLKRIECYEVNYQPLDEELDSHLSYIKIFDVGTRYMVNRVQDHIQSRTVYYLMNIHVTPRSIYLCRHGESELNIRGRIGGDSGLSVRGKQYAYALANFIQSQGISSLKVWTSHMKRTIQTAEALGVPYEQWKALNEIDAGVCEEMTYEEIQEHYPEEFALRDQDKYRYRYPKGESYEDLVQRLEPVIMELERQENVLVICHQAVMRCLLAYFLDKSSDELPYLKCPLHTVLKLTPVAYGCKVESIYLNVEAVNTHREKPENVDITREPEEALDTVPAHY*