HsaEX6007967 @ hg38
Exon Skipping
Gene
ENSG00000106633 | GCK
Description
glucokinase [Source:HGNC Symbol;Acc:HGNC:4195]
Coordinates
chr7:44150956-44153463:-
Coord C1 exon
chr7:44153301-44153463
Coord A exon
chr7:44152271-44152425
Coord C2 exon
chr7:44150956-44151075
Length
155 bp
Sequences
Splice sites
3' ss Seq
ACTTCTCTCTGTGCCTTTAGAAG
3' ss Score
9.01
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
Exon sequences
Seq C1 exon
GTAGAGCAGATCCTGGCAGAGTTCCAGCTGCAGGAGGAGGACCTGAAGAAGGTGATGAGACGGATGCAGAAGGAGATGGACCGCGGCCTGAGGCTGGAGACCCATGAAGAGGCCAGTGTGAAGATGCTGCCCACCTACGTGCGCTCCACCCCAGAAGGCTCAG
Seq A exon
AAGTCGGGGACTTCCTCTCCCTGGACCTGGGTGGCACTAACTTCAGGGTGATGCTGGTGAAGGTGGGAGAAGGTGAGGAGGGGCAGTGGAGCGTGAAGACCAAACACCAGATGTACTCCATCCCCGAGGACGCCATGACCGGCACTGCTGAGATG
Seq C2 exon
CTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCATCAGATGAAACACAAGAAGCTGCCCCTGGGCTTCACCTTCTCCTTTCCTGTGAGGCACGAAGACATCGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106633-'5-14,'5-12,8-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.391 A=0.064 C2=0.000
Domain overlap (PFAM):
C1:
PF0034916=Hexokinase_1=FE(26.0=100)
A:
PF0034916=Hexokinase_1=FE(44.7=100),PF0034916=Hexokinase_1=PU(2.4=3.8)
C2:
PF0034916=Hexokinase_1=PD(0.9=4.3),PF0034916=Hexokinase_1=FE(26.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAGCAGATCCTGGCAGAGTT
R:
GGAAAGGAGAAGGTGAAGCCC
Band lengths:
256-411
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains