HsaINT1017140 @ hg38
Intron Retention
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel subfamily H member 2 [Source:HGNC Symbol;Acc:HGNC:6251]
Coordinates
chr7:150948444-150949049:-
Coord C1 exon
chr7:150948856-150949049
Coord A exon
chr7:150948544-150948855
Coord C2 exon
chr7:150948444-150948543
Length
312 bp
Sequences
Splice sites
5' ss Seq
GATGTGAGT
5' ss Score
7.77
3' ss Seq
GATACTGATTTTGGTTCCAGACC
3' ss Score
5.87
Exon sequences
Seq C1 exon
GGAAGAATGACATCTTTGGGGAGCCTCTGAACCTGTATGCAAGGCCTGGCAAGTCGAACGGGGATGTGCGGGCCCTCACCTACTGTGACCTACACAAGATCCATCGGGACGACCTGCTGGAGGTGCTGGACATGTACCCTGAGTTCTCCGACCACTTCTGGTCCAGCCTGGAGATCACCTTCAACCTGCGAGAT
Seq A exon
GTGAGTTGGCTGCCCTGAGCTGGACCCCATCCTCCTGCTTCCAGCTGTGTGGCTGCCCCTTTGCTGTGTGACATTGAATGTGATGCTTCTCTGTCTCAGTTTCCCTGTCTGTCAAATGGTATCATAGAGCAGCCTACAAAAGTCCCAAACTCAGTCTTTGCCTGGGGCAAAATCACATTGGGGGCAGGGAAGGGTTTTCCCAGAGCTGGGGCGCCCAGCCCTACTTTTTCTGTGTTAAGGAGGGAGCTTGGGGCCTGACCCCGGTGGGGCAGGAGAGCACTGAAAGGGCCCTGATACTGATTTTGGTTCCAG
Seq C2 exon
ACCAACATGATCCCGGGCTCCCCCGGCAGTACGGAGTTAGAGGGTGGCTTCAGTCGGCAACGCAAGCGCAAGTTGTCCTTCCGCAGGCGCACGGACAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118:ENST00000262186:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.015 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PD(53.4=72.3)
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:
AAGAATGACATCTTTGGGGAGCC
R:
CTGCGGAAGGACAACTTGC
Band lengths:
278-590
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains