HsaINT1017143 @ hg38
Intron Retention
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel subfamily H member 2 [Source:HGNC Symbol;Acc:HGNC:6251]
Coordinates
chr7:150946877-150947514:-
Coord C1 exon
chr7:150947328-150947514
Coord A exon
chr7:150947055-150947327
Coord C2 exon
chr7:150946877-150947054
Length
273 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
TCCCCCACTTCCTGCCCCAGGCT
3' ss Score
7.68
Exon sequences
Seq C1 exon
GCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGGGTCGGCGGCCCCGGGGCGACGTGGAGAGCAGGCTGGATGCCCTCCAGCGCCAGCTCAACAG
Seq A exon
GTGAGGGAGTGCAGGTGGGGTGGGGGGGCACGCCCTGGAGTCTGGTCCAGGTCCTGGCGGTGTTGTCTGGTAGAGGGAGAGGGCCTGTCTGTGTGTGCAGCAGCTGGATCCCCTTCTTCCATTCCTAGCCCAGCTGGGGGCTGCCACACCTCTAGCGCGGAGGGCCTGGGTTGACAGGCTGCCCCTCCCCCCTCCCCTTCCCCTTCCCCACTCCCGGTGGAGGCTGTCACTGGTGTCCCCACTTCTCTGAGCATCCCCCACTTCCTGCCCCAG
Seq C2 exon
GCTGGAGACCCGGCTGAGTGCAGACATGGCCACTGTCCTGCAGCTGCTACAGAGGCAGATGACGCTGGTCCCGCCCGCCTACAGTGCTGTGACCACCCCGGGGCCTGGCCCCACTTCCACATCCCCGCTGTTGCCCGTCAGCCCCCTCCCCACCCTCACCTTGGACTCGCTTTCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118:ENST00000262186:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.698 A=NA C2=0.567
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTACCAGGAGCTCCCTCGATG
R:
GAAAGCGAGTCCAAGGTGAGG
Band lengths:
303-576
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains