HsaEX0030075 @ hg38
Exon Skipping
Gene
ENSG00000156515 | HK1
Description
hexokinase 1 [Source:HGNC Symbol;Acc:HGNC:4922]
Coordinates
chr10:69295633-69343989:+
Coord C1 exon
chr10:69295633-69295680
Coord A exon
chr10:69300769-69300861
Coord C2 exon
chr10:69343827-69343989
Length
93 bp
Sequences
Splice sites
3' ss Seq
GTGTTTGTCTCTCTTTTCAGCAT
3' ss Score
12.14
5' ss Seq
TTTGTACGT
5' ss Score
3.25
Exon sequences
Seq C1 exon
GCTACAGCAGCTGAAAAACCAAAACTTCATCTACTTGCTGAAAGTGAG
Seq A exon
CATTGTTGATGCTCTTGAGAGCATCAGCCAGGACATTAATGTGCACCACTGTGGTGGCGTGGAAAGATGGCAAAAAGAGCCCTGCATGATTTT
Seq C2 exon
ATTGACAAGTATCTCTATGCCATGCGGCTCTCCGATGAAACTCTCATAGATATCATGACTCGCTTCAGGAAGGAGATGAAGAATGGCCTCTCCCGGGATTTTAATCCAACAGCCACAGTCAAGATGTTGCCAACATTCGTAAGGTCCATTCCTGATGGCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156515_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.229 A=0.000 C2=0.002
Domain overlap (PFAM):
C1:
PF0481510=Sec23_helical=PU(13.6=50.0),PF0034916=Hexokinase_1=PU(2.0=25.0)
A:
PF0481510=Sec23_helical=PU(13.6=88.9),PF0034916=Hexokinase_1=PU(2.4=55.6)
C2:
PF0481510=Sec23_helical=PD(73.1=89.1),PF0034916=Hexokinase_1=FE(26.2=100)
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGCAGCTGAAAAACCAAAACT
R:
GGCAACATCTTGACTGTGGCT
Band lengths:
176-269
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development