HsaEX6088723 @ hg38
Exon Skipping
Gene
ENSG00000156515 | HK1
Description
hexokinase 1 [Source:HGNC Symbol;Acc:HGNC:4922]
Coordinates
chr10:69376934-69401882:+
Coord C1 exon
chr10:69376934-69377089
Coord A exon
chr10:69379862-69380095
Coord C2 exon
chr10:69401715-69401882
Length
234 bp
Sequences
Splice sites
3' ss Seq
ATTGGCTTCTAACTTCACAGGAA
3' ss Score
8.5
5' ss Seq
ACAGTGAGT
5' ss Score
8.34
Exon sequences
Seq C1 exon
GTTTGAGAAGATGGTCAGTGGCATGTACTTGGGAGAGCTGGTTCGACTGATCCTAGTCAAGATGGCCAAGGAGGGCCTCTTATTTGAAGGGCGGATCACCCCGGAGCTGCTCACCCGAGGGAAGTTTAACACCAGTGATGTGTCAGCCATCGAAAA
Seq A exon
GAATAAGGAAGGCCTCCACAATGCCAAAGAAATCCTGACCCGCCTGGGAGTGGAGCCGTCCGATGATGACTGTGTCTCAGTCCAGCACGTTTGCACCATTGTCTCATTTCGCTCAGCCAACTTGGTGGCTGCCACACTGGGCGCCATCTTGAACCGCCTGCGTGATAACAAGGGCACACCCAGGCTGCGGACCACGGTTGGTGTCGACGGATCTCTTTACAAGACGCACCCACA
Seq C2 exon
AGTCTTGCATTCTGTTTGTCTCGTGGGGGGAGGTGGACAGTCCTGCGGAAATGTGTCTTGTCTCCATTTGGATAAAAGGAACCAACCAACAAACAATGCCATCACTGGAATTTCCCACCGCTTTGTGAGCCGTGTCGTATGACCTAGTAAACTTTGTACCAATTCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156515_MULTIEX2-1/9=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.063 C2=0.000
Domain overlap (PFAM):
C1:
PF0372711=Hexokinase_2=FE(21.7=100)
A:
PF0372711=Hexokinase_2=FE(32.5=100)
C2:
PF0372711=Hexokinase_2=PD(16.7=81.6)
Main Skipping Isoform:
ENST00000360289fB17105
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTCAGTGGCATGTACTTGGG
R:
ACTAGGTCATACGACACGGCT
Band lengths:
292-526
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains