HsaINT0068284 @ hg19
Intron Retention
Gene
ENSG00000106633 | GCK
Description
glucokinase (hexokinase 4) [Source:HGNC Symbol;Acc:4195]
Coordinates
chr7:44187249-44189458:-
Coord C1 exon
chr7:44189359-44189458
Coord A exon
chr7:44187433-44189358
Coord C2 exon
chr7:44187249-44187432
Length
1926 bp
Sequences
Splice sites
5' ss Seq
TGGGTAAGG
5' ss Score
9.08
3' ss Seq
CCCCCCGACCTCCACCCCAGGCA
3' ss Score
7.44
Exon sequences
Seq C1 exon
GACTTTGAAATGGATGTGGTGGCAATGGTGAATGACACGGTGGCCACGATGATCTCCTGCTACTACGAAGACCATCAGTGCGAGGTCGGCATGATCGTGG
Seq A exon
GTAAGGGCTCCTTGCACCCCTGCCCCTTCCAGACTGCTGAGGCTCCCTGTGTACAACAGGCTTCAAGGGCCCTGTGGGGTGAGGACCAAACTACTTAACAACCGGTGATGTCAGAGCAGAGCCTGGTGCTACAGCCTGGGTGGTCTTGGGGTATCAAGATGGAAGCACCGTGTACAGTAGGAAGCATTTCAACGCCATGATGCCACATTCCTGCATCAGATGGTATGCCAGCTGCATATCCACCTCACCCATCAGGATTATAATTAAAACACTTATCTGGTAAATTGACCAACTGGACAGATTGGTCCAAGTGGAAGAGGATAAGCAAAAGTGGTACCATCTCCACCCGAATGGTCTTTCCACGGGCCTGCCCCTGCCCCTGCCCCCACCCAAAGTGAAGGCAGGTACCAGGAAAGGGAGCAGCAGTCCGCCCCTCCCAGCAGAGGGGTCTTCCACACCAACTCGGACCTTTCTCAGAAGTTCCGGAGGTCATTATAACCAGCCTTCACTGAGGAGCAATCCAATCAGATCAGTTATCTGCTGTGCGCACAGCCGTGTGGTTCTATACTTCTCTTACTTCCATTTTCACCTTTCAGAAGGAACGTTGTCTTTAAATCCAGCATCTAAACGTGAGCCCCAGCCATCCCTGGCTGTGATCCCCCCAGCCCTTTCCACCCTATCCTCTGGAACTGCCTGGGGCTCCCCAAGACACTTCCACATGAATTCCCACCAAGCCAAGCTGCAGCTGCTGGGCCCAGGCATAACCCCTCCTGGGGCAGAGGTGGCAAGGAGTGACCCACCACTCACATCTGCCCCACATCCACTCTTGACTCTGCTCAGTGTTTAAAAACATGTTTATAACAATTACCAAGATCTGAAAATTAGGAGAATTCACATCAAAGTCTGGATTTCTGTTTGTTCATAAAAAACTAGAAGGCAGCCAGGCAAGGTGGCTCACGCCAGTAATCCCAACACTTTGGGAGGCTAAGGCAGGCGGGTCACTTGAGGTCAGGATTTGAAGACTAGCTGGCCAACAAGGTGTAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGATGGCGCATGCCTGTAATCCCAGGTACTCAGGAGACTGAGGCAGGAGAATTGCTTAAACCCTGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGGTGATGGAGTGAGTGAGACTCTGTCTCCAAATAAATAAATAAATAAATAAAAACTGGAAGTCTAAGCATCACTGAGCCCTGATTCCTATGTGGCAGCTCGACTGACCAGCATTTGAGTTGCTGTCCCTGACAGCTTTGGGGGTGTGCAGCCCACACAGTCATGCTAGCTTGAGGCTCTGCTGTCAGCAGTTTGAAACTCTTAATAACTTGTGAACAAAAGACTCCATGTTGTCACTCTGCACAGGGGCCAGCAAATTACAAAATTCCATATCCGGAATTGTCTACAGGAGCCTCTGGGCTGCTCCCAAGGGCCCACACCATGCCTTACTCACTTTGGGTTGCCATCCAAACATGTCTCATGACAAAGAAGCTCAAACATGTGCATGGACAGTGCCAGAAAACAAGGGTCGTACATAGACAAAATAAAATGATAACGTCCCACAACCATTTCTTTGATACACACTGTTTCTCTCAGTCCTCCCAACCACCTAGGTAACAGGCAGGGAAGGTGTTACTGTTGCCTGTTAGGAAAGAGGACAGCCCTGAAAGCTGTCCCTGGCCACTGAAGCAACCCAGGTCTTCCAGCCCCAGGGAGAGCCGCCTTTCCATTGTTCCAGACAAAGCAGAGACAGGCATGGGGGAGCGGGAGAGGGACTCCTGTGGGCAGGAACCAGGCCCTACTCCGGGGCAGTGCAGCTCTCGCTGACAGTCCCCCCGACCTCCACCCCAG
Seq C2 exon
GCACGGGCTGCAATGCCTGCTACATGGAGGAGATGCAGAATGTGGAGCTGGTGGAGGGGGACGAGGGCCGCATGTGCGTCAATACCGAGTGGGGCGCCTTCGGGGACTCCGGCGAGCTGGACGAGTTCCTGCTGGAGTATGACCGCCTGGTGGACGAGAGCTCTGCAAACCCCGGTCAGCAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106633-GCK:NM_000162:6
Average complexity
IR-S
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=PD(11.1=67.6),PF0372711=Hexokinase_2=PU(3.3=23.5)
A:
NA
C2:
PF0372711=Hexokinase_2=FE(25.4=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTTGAAATGGATGTGGTGGCA
R:
CTGACCGGGGTTTGCAGAG
Band lengths:
278-2204
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)