HsaEX0030072 @ hg38
Exon Skipping
Gene
ENSG00000156515 | HK1
Description
hexokinase 1 [Source:HGNC Symbol;Acc:HGNC:4922]
Coordinates
chr10:69379862-69395105:+
Coord C1 exon
chr10:69379862-69380095
Coord A exon
chr10:69382487-69382791
Coord C2 exon
chr10:69394950-69395105
Length
305 bp
Sequences
Splice sites
3' ss Seq
GTCCCCCCTGCCCCCATAAGGTA
3' ss Score
4.9
5' ss Seq
CCGGTGAGG
5' ss Score
9.35
Exon sequences
Seq C1 exon
GAATAAGGAAGGCCTCCACAATGCCAAAGAAATCCTGACCCGCCTGGGAGTGGAGCCGTCCGATGATGACTGTGTCTCAGTCCAGCACGTTTGCACCATTGTCTCATTTCGCTCAGCCAACTTGGTGGCTGCCACACTGGGCGCCATCTTGAACCGCCTGCGTGATAACAAGGGCACACCCAGGCTGCGGACCACGGTTGGTGTCGACGGATCTCTTTACAAGACGCACCCACA
Seq A exon
GTATTCCCGGCGTTTCCACAAGACTCTAAGGCGCTTGGTGCCAGACTCCGATGTGCGCTTCCTCCTCTCGGAGAGTGGCAGCGGCAAGGGGGCTGCCATGGTGACGGCGGTGGCCTACCGCTTGGCCGAGCAGCACCGGCAGATAGAGGAGACCCTGGCTCATTTCCACCTCACCAAGGACATGCTGCTGGAGGTGAAGAAGAGGATGCGGGCCGAGATGGAGCTGGGGCTGAGGAAGCAGACGCACAACAATGCCGTGGTTAAGATGCTGCCCTCCTTCGTCCGGAGAACTCCCGACGGGACCG
Seq C2 exon
GTATGAGAAGATGATCAGTGGTATGTACCTGGGTGAAATCGTCCGCAACATCTTAATCGACTTCACCAAGAAGGGATTCCTCTTCCGAGGGCAGATCTCTGAGACGCTGAAGACCCGGGGCATCTTTGAGACCAAGTTTCTCTCTCAGATCGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156515_MULTIEX2-2/9=1-8
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.063 A=0.049 C2=0.000
Domain overlap (PFAM):
C1:
PF0372711=Hexokinase_2=FE(32.5=100)
A:
PF0372711=Hexokinase_2=PD(16.7=38.8),PF0034916=Hexokinase_1=PU(29.1=58.3)
C2:
PF0372711=Hexokinase_2=FE(21.7=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCAAAGAAATCCTGACCCG
R:
CTTGGTCTCAAAGATGCCCCG
Band lengths:
349-654
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development