HsaEX1046583 @ hg38
Exon Skipping
Gene
ENSG00000156510 | HKDC1
Description
hexokinase domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23302]
Coordinates
chr10:69240652-69246234:+
Coord C1 exon
chr10:69240652-69240751
Coord A exon
chr10:69243182-69243365
Coord C2 exon
chr10:69246079-69246234
Length
184 bp
Sequences
Splice sites
3' ss Seq
CTCTCTGATCCCTGGTTCAGGAA
3' ss Score
9.1
5' ss Seq
ACTGTGAGT
5' ss Score
7.94
Exon sequences
Seq C1 exon
GACATGGACGTGGACATCCTGGCCCTGGTCAATGACACCGTGGGGACCATGATGACCTGTGCCTATGACGACCCCTACTGCGAAGTTGGTGTCATCATCG
Seq A exon
GAACTGGCACCAATGCGTGTTACATGGAGGACATGAGCAACATTGACCTGGTGGAGGGCGACGAGGGCAGGATGTGCATCAACACAGAGTGGGGGGCCTTCGGGGACGACGGGGCCCTGGAGGACATTCGCACTGAGTTCGACAGGGAGCTGGACCTCGGCTCTCTCAACCCAGGAAAGCAACT
Seq C2 exon
GTTCGAGAAGATGATCAGTGGCCTGTACCTGGGGGAGCTTGTCAGGCTTATCTTGCTGAAGATGGCCAAGGCTGGCCTCCTGTTTGGTGGTGAGAAATCTTCTGCTCTCCACACTAAGGGCAAGATCGAAACACGGCACGTGGCTGCCATGGAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156510_MULTIEX2-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0034916=Hexokinase_1=PD(11.2=67.6),PF0372711=Hexokinase_2=PU(3.3=23.5)
A:
PF0372711=Hexokinase_2=FE(25.4=100)
C2:
PF0372711=Hexokinase_2=FE(21.7=100)
Main Skipping Isoform:
ENST00000354624fB31649
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACATGGACGTGGACATCCTG
R:
TTCTCCATGGCAGCCACGT
Band lengths:
256-440
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains