HsaINT0068281 @ hg19
Intron Retention
Gene
ENSG00000106633 | GCK
Description
glucokinase (hexokinase 4) [Source:HGNC Symbol;Acc:4195]
Coordinates
chr7:44190555-44192024:-
Coord C1 exon
chr7:44191870-44192024
Coord A exon
chr7:44190675-44191869
Coord C2 exon
chr7:44190555-44190674
Length
1195 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGC
5' ss Score
8.27
3' ss Seq
CCATGGCGTGCATCTTCCAGCTC
3' ss Score
5.75
Exon sequences
Seq C1 exon
AAGTCGGGGACTTCCTCTCCCTGGACCTGGGTGGCACTAACTTCAGGGTGATGCTGGTGAAGGTGGGAGAAGGTGAGGAGGGGCAGTGGAGCGTGAAGACCAAACACCAGATGTACTCCATCCCCGAGGACGCCATGACCGGCACTGCTGAGATG
Seq A exon
GTGAGCAGCGCAGGGGCCGGGGCAGGGGGCCAAGGCCATGCAGGATCTCAGGGCCCAGCTAGTCCTGACGGGAGGTGCCACCTGTCTACCAGGGGTGGGGAGAGCGGGGGCTGGAGGACCACCCAGCCTCAGAGGCAGCTGGAGGCCTGGGTGAACAGGACTGGCCAACATGTCCCCAAGTCCCACAGTCACCATCTGGCCAGCATTGAGAGGGGAACGGGCTGAGGAAGAGTTAGTGGCAAGAGGAACCCCAGCCAGTCACACCTTGTCCAGTTTACCAGAGGAAAAACCAATGTGTAAGAACAGAAATGTGACCCGGCAGCCAGTGCACTGCCCCCCTCTCCAAAGGCCACCCCTCACCCTCCACCAGCATGCACAGAAAGTGGGGTGACAGCAATCACAATGTCTACCCAGGCAGCAAGGACCCCTGACCATGGGGAGGACTGGGGTGCAGGGAACATAGAAGCAGAATGAGGCCTAGGGGGAGTTGGGCAAGGCCAGAGCCCTAGCTGCAGCCAAGCACATGGCCAAGGCCAGCTCCTGGAAGGGCAGGGCTCCGAGGCAGGAGGCAGGAGGCTGCCCGTGGCTACCCGTCCTCACACCCCTGCAGCTTGCTAGTCTGTCTGTGGGCTGGGTGTGAATCAAGGCAGTGGGATGGTGTGGGGACCTCCCTGGCCCCAGCAGCCAGTGAGGAGCCTGGTCAGTCAGCAGAGCATTCAGCAGTATCCAGTTCCATGGAGAGGCCCGTGTGAGGGGAGTCGGGGCTGGTCTTCAGTAAGGATGGGTGGCCAGGGCCCCTAGAAGTAGAAAAGGAGACTCCGGGTGCTGGAGACAGAAATCAAGGATGTGCCTCCATGTGGAGCCTCAGGAATAGCTGGCCAGGCCTGAGGCTGAACCTCACAAGGTTCAGCTGGGAGGGCTAGGCTGACAGAGCACAGCCGGGCCAGGGACCAGCCTGCCCTGTGTTGCCTTGTCCCGAGGGCCACTGTCAGCAGGTCTCTGGCATGGGGGAGGCTTAGGGCCTGAGCCCAACAAGCAGCAGCGGAAGAGGAGAGGGAAACTGTGGACAGGCCTGGCATTCAGTGGCCAGGTGTTGCAGTGTCCCTGAGGAATAGCTTGGCTTGAGGCCGTGGGGAGGGCTGCCGGCCAGCGCACCCCCCCATGCCAGATGGTCACCATGGCGTGCATCTTCCAG
Seq C2 exon
CTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCATCAGATGAAACACAAGAAGCTGCCCCTGGGCTTCACCTTCTCCTTTCCTGTGAGGCACGAAGACATCGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000106633-GCK:NM_000162:3
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.062 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0034916=Hexokinase_1=FE(44.7=100),PF0034916=Hexokinase_1=PU(2.4=3.8)
A:
NA
C2:
PF0034916=Hexokinase_1=PD(0.9=4.3),PF0034916=Hexokinase_1=FE(26.8=100)
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:
GACTTCCTCTCCCTGGACCTG
R:
CGATGTCTTCGTGCCTCACAG
Band lengths:
262-1457
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
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)