Special

HsaINT0068284 @ hg38

Intron Retention

Gene
Description
glucokinase [Source:HGNC Symbol;Acc:HGNC:4195]
Coordinates
chr7:44147650-44149859:-
Coord C1 exon
chr7:44149760-44149859
Coord A exon
chr7:44147834-44149759
Coord C2 exon
chr7:44147650-44147833
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:ENST00000403799:6
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=0.016
Domain overlap (PFAM):

C1:
PF0034916=Hexokinase_1=PD(11.1=67.6),PF0372711=Hexokinase_2=PU(11.4=23.5)
A:
NA
C2:
PF0372711=Hexokinase_2=FE(25.4=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
(gck)
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