HsaINT0076360 @ hg38
Intron Retention
Gene
ENSG00000156515 | HK1
Description
hexokinase 1 [Source:HGNC Symbol;Acc:HGNC:4922]
Coordinates
chr10:69368536-69369336:+
Coord C1 exon
chr10:69368536-69368631
Coord A exon
chr10:69368632-69369236
Coord C2 exon
chr10:69369237-69369336
Length
605 bp
Sequences
Splice sites
5' ss Seq
GGGGTAATT
5' ss Score
5.8
3' ss Seq
ACCCCGTTATCTGTCCCCAGGAC
3' ss Score
11.11
Exon sequences
Seq C1 exon
GCCATCCTGATCACCTGGACAAAGCGATTTAAAGCGAGCGGAGTGGAAGGAGCAGATGTGGTCAAACTGCTTAACAAAGCCATCAAAAAGCGAGGG
Seq A exon
GTAATTTCTCCTGGGCCCTCTGCCTCAGCCATGCAGGGGTGTGGGGAGCAGGGCTGCATTCTAAAACAGACCAGTGCCCTTCCTGGGGGGCAGTAGTGCCAAAGCCTGAAGACCCAGGCAGGGGAGAGTTGAGGGCTCACAGTGTGGAATGATGAGGATGGGGATGGTGCAAAGCCCAGCTCTCGGAGGTGCTGCCTGGAGCACCCAGGCCTGGAGCAGGGGGTCACCTCCTGACAGGAGTGCTGGGCTATTCAGGGAGTGGGTGTCACGGATGCAGCCTGCTGTGCTTAGAACAAGGGCAGAGGAGCCCGCCTTATCGGGGACGTGGACCTCCTGTGGAGGTTTGCAGAGGAATGTAGCTCCATGAGTAAAATCCCCACTACCCAAAGACTCTTAAGCCAGGTAATTAAGGAAACTGTGAGGTTTTCATCATTTAATCACCATGCTCTGATCTAGTTAATTTGAGTACCAGCTGTAATGAAACCAGTACCACTCACAAAAGCAGGGGTTCTGAAAACGGGAGCACTTCTGCCAAGCGCTGTTAAGGTGTGTGATCTCTGCTCCCATGTGTGAGTGGACAATGACACCCCGTTATCTGTCCCCAG
Seq C2 exon
GACTATGATGCCAACATCGTAGCTGTGGTGAATGACACAGTGGGCACCATGATGACCTGTGGCTATGACGACCAGCACTGTGAAGTCGGCCTGATCATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000156515:ENST00000359426:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0034916=Hexokinase_1=FE(15.0=100)
A:
NA
C2:
PF0034916=Hexokinase_1=PD(11.2=67.6),PF0372711=Hexokinase_2=PU(11.6=23.5)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCTGATCACCTGGACAAAGCG
R:
CGATGATCAGGCCGACTTCAC
Band lengths:
191-796
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