HsaINT0084310 @ hg19
Intron Retention
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:HGNC Symbol;Acc:6251]
Coordinates
chr7:150648009-150648923:-
Coord C1 exon
chr7:150648536-150648923
Coord A exon
chr7:150648209-150648535
Coord C2 exon
chr7:150648009-150648208
Length
327 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
CCACGTGCCCACGCCCCCAGCCC
3' ss Score
5.39
Exon sequences
Seq C1 exon
CTGATCGGGCTGCTGAAGACTGCGCGGCTGCTGCGGCTGGTGCGCGTGGCGCGGAAGCTGGATCGCTACTCAGAGTACGGCGCGGCCGTGCTGTTCTTGCTCATGTGCACCTTTGCGCTCATCGCGCACTGGCTAGCCTGCATCTGGTACGCCATCGGCAACATGGAGCAGCCACACATGGACTCACGCATCGGCTGGCTGCACAACCTGGGCGACCAGATAGGCAAACCCTACAACAGCAGCGGCCTGGGCGGCCCCTCCATCAAGGACAAGTATGTGACGGCGCTCTACTTCACCTTCAGCAGCCTCACCAGTGTGGGCTTCGGCAACGTCTCTCCCAACACCAACTCAGAGAAGATCTTCTCCATCTGCGTCATGCTCATTGGCT
Seq A exon
GTGAGTGTGCCCAGGGGCGGGCGGCGGGGAGAGCCCACGGTGGAGGAACCCAAGTTGGAGGAAACTGAGGCTGCTAGCCGGGCCAGAGTGAGGCCCTGGAACTTAGAGACTCCAGGGGCCACCATCGTGACATGGTTTGGGGGCTGGGTCACCAGGGCGGGGACTACTGAAGGGTGGGGTGTGCTGGAGCGCAGATGTACAAGGGCGTCTCGTGGGCATGTCGACGCTGAGACTGAGACACTGACCTGGTGCGGGGCCTGAGCAGGGTCCCTGTGGGTGGGTGGGGTCCCTGCAGAGGCTGACGGCCCCACGTGCCCACGCCCCCAG
Seq C2 exon
CCCTCATGTATGCTAGCATCTTCGGCAACGTGTCGGCCATCATCCAGCGGCTGTACTCGGGCACAGCCCGCTACCACACACAGATGCTGCGGGTGCGGGAGTTCATCCGCTTCCACCAGATCCCCAATCCCCTGCGCCAGCGCCTCGAGGAGTACTTCCAGCACGCCTGGTCCTACACCAACGGCATCGACATGAACGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118-KCNH2:NM_172056:7
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:
PF0052026=Ion_trans=FE(62.6=100)
A:
NA
C2:
PF0052026=Ion_trans=PD(4.9=14.9)
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:
TGCTGTTCTTGCTCATGTGCA
R:
GAGTACAGCCGCTGGATGATG
Band lengths:
358-685
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)