HsaINT0084308 @ hg19
Intron Retention
Gene
ENSG00000055118 | KCNH2
Description
potassium voltage-gated channel, subfamily H (eag-related), member 2 [Source:HGNC Symbol;Acc:6251]
Coordinates
chr7:150649513-150654590:-
Coord C1 exon
chr7:150654379-150654590
Coord A exon
chr7:150649942-150654378
Coord C2 exon
chr7:150649513-150649941
Length
4437 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGC
5' ss Score
9.88
3' ss Seq
TCCGCCTTCCCCGGGTGCAGGTC
3' ss Score
8.73
Exon sequences
Seq C1 exon
GGGCCATGCACCCACTGCGCAGCGGCTTGCTCAACTCCACCTCGGACTCCGACCTCGTGCGCTACCGCACCATTAGCAAGATTCCCCAAATCACCCTCAACTTTGTGGACCTCAAGGGCGACCCCTTCTTGGCTTCGCCCACCAGTGACCGTGAGATCATAGCACCTAAGATAAAGGAGCGAACCCACAATGTCACTGAGAAGGTCACCCAG
Seq A exon
GTAGGCGCCCAGCGGCCGGGCTCTCCTCTCACCTTGGAGGAGCTTGGAGAGGGGGTGGGAGTGGGCTGTGATCCAGAGCCGGGTGGAGGGGGCTAGCCAGTGAGGGCCTCTTGGAGGGAGGCAGACCTGAGGGTTGGGGTTGGCAATCTATTCCAGAGCTGCGATGGGGGGAGAGGGGACAGTCTGAGAAGTCCTGGAGAGGGGACTGGAGAGGTCTGGTAAAGGGCTGGGAATGGCAGAGCGGAGGTCGGGTGGATGGGGTGCGTGCCTTCGGGGCACAGGGTGAGGACAGGGCAGTTGAGGCTGGGGACATGACAGGGCCAGTAGCAAGGGGGGAAGGCGGCCTGAGGGACATGAAAGGTCTGGCTGCAGGGTGTGTGAAGGAAGTACTAGGGGCCAAGCCAACTGGGAGGCTTCAAATGAGAAGGGGTCACAGAGGTCAAGGACAGGAGGGTCCTAATTCTTCCAGGCCAAGGTGATGTGCCAGGCAGAGGGTGGGCCTCAGTCCTGTGGGGATGGCCAGGATGGCCTCGAGGGGCCCAACTATGTCCCTAAAGCATGGGAGAAGCAAGTTTTCTTCTCATAGGGAGGTGGTGGGTACAAAGATATGGAAGGGTCAGGTCCCTGAATCCTGGGCCAGAGAAGACCCCTCAGCCTTGGGGGCATTAGCCAGCCTGGTCTTCTGTCCCCTCCTGGGTTTGGGGTCCTCCTGGCAGCAAGAGGACCTGCGACCCCTCCATGGCTTCATCCACCCGACACCTTATCCTAGCCTTTGGGGGCTGGGGGTGGGTGGGTCAGGAGTGCAGATCTCTGCAGTGAGTGAGAAGCCTGGGATAATGTGGAGGACTCCTGTCCCAAGCTGTTCCCTCCTGCCCCTTCCACAGCAGCTGCCTGGGTTGGCTCATGTAAGGGAGCTGCCCTGCTACCTCGGCGGGCTCCTGGCCCTGCTCCCACCGCCTGGCTTTCTGGGTCCCTGCCAGGTCTCCAGCCCACTGGCCTTGACTCCAGAGCATTCCCCCTCACCCCAGGCCCTTATCTGGCCACCTACCCCTCTCTTCCTCCTCCCTTGCTTCTCTCTTGGTTCCCACCTGAGCCCCTGGCATCTGCCCTGCTCCTGTGCCCGCTGCATGTGCCCGTGAGTTGCGGTGGGTCTGTGCATGTGCGCCTGTATGTGTCGGCAGGCGTGTGTGTTCCTGCCAGTCACTAGCAGTCTCTCCATCTCTGGGTGTCTCTGTCTGACTCTGGCTGGCTCAGCACTGGACCGGCTGGGCGGGGGTGTCAGGGAGACCATTAATCTGCGGTGACAGGCCCGGCTGCTGGCGGAGGGGGAGGGGCTCAGGCTGCGGGAGCGCCGCTGCAGGAGCCTGGGCGGGCTGCGGGGGAGGGGGCCGCTGGCTGGGCACCGGCGGGGCGGGGGAGCCTAGTGTGGCGGGGTGGGGGTGGGGACCTGGTAGAAGGAGGGGCCGGCTGGAGGAGCTGAGGTTCCGAGTGCGGCCGCTGCTGGGCTGGCGGGCGGGCAGAGCACGGCACCCTGGCAGCAGGGCCCACGCCACGGGGCCATGGGCAGCTCGAGCCAGGCAGGCTGCTGCCCACGCTTACTGCCAGGGTGACCCCAGCCCTGGGGCCCAGCCACAACCACCCTGGCTTCATGCCAGGGGCTGCTCTGGTTGCCAGTCGGCCAGCCTCGGGGGTGCAGCCTGGGCTGGGACTGCTGCTGGGGTGCAGGTGAGGCAGTGGCCGGGCCCTCAGGCCCCAGGGCAGGCAGGCTGCAGGGAGCCAAGTCCTCCATGGCGGCCCCAGCCGGGAAGGCGAGCAGGACAGGGGCTCTGCGGCCCAGGGCCCAGAAAGGCCGGGTGAGGCGGGCCGTGCGCATCTCCAGCCTCGTGGCCCAGGAGGTAGGTGACACCCGGTCCTTCCTCTTCTTTCTGGGGCCGGCACACTGAGGCAGGTGGCTGGCCCAAGGGCTCTGACTCCAGGCTGGGGAGAGGGCTGCTGGGAAGTAGGAAGCTTTGGGAGCCGTGGGGCCTGGCCCTGCTCACCCGCGCCTGGCTCCTGTTCTCATTCCCTCCCAGGCTGGGCTTACAGAGTTTCCGTTGCTGGGACTTCCCCGCTCCTGTGCCTGCCATGGCCCACAGTCCTGGAGCTCAAAATGCAAAGTGGGGAGATGACAGGAATGAGATGGGTGCCCAGAGAGATGGTGGGGAGGCGGAGTGGGACAAAGGAGCCCATGGGCAGGACCAGGAGAAGCCGGCAGGCGACAGCTGGGCCTGGCATGGAGGCGCCGGGGCTCCTTTGCTCTGTGTGCTGGGGTTGGACCCTGTGGGCAAAGGAGGCTTGTGCTGTTTTGGGGGGTCGAGGAGGCTGGAATGTGCGGAAGCCACTGTGTGGGTGGTGAGGGCGCGCTGGGCTGAGGCACCTGGCTCATCTCTTCATGGGCAGCCGAGGTGTGGTGGCTGGGCCATGCACTACTCTGTGACCTCCTGGGAGCCATCCAGCCGCTCTTCTGTCAGCCTGGGGCAGGCTTGGGCCGACAGTGGAGGAGGAGTGGGAGGTGGCTCAGGGCTAAGTCTGGGAATCCCATCCCTGCCCCCACCACCCCACATCTGCACATTCTGCCTTGGCTCATACACTCTTTCCAGCTGGGGGACAGGTACAGGTAGGTCTTCCCACCCACAGCTGAGGAGTCAGGGTTTGGCTTAAGCAAGCCAGCTTCAGTATTCTATAGGACAACAGGCTGGGGGGACAGACCTGGCCCAAGGCCATAGGTGAGCTGGTGGCTGCAGAGCTGGGACTGGCCCCTGTCAGGTGTGCCCCATGCACGTGTGAGTTTGTACCCTGGGGCAGTGTTGCTCATGCTGTGTGCAGACTCAGGGGTAGGGTCACTGCTGTTAGGGGTGGTCCTGACACCTCCGCCCAGAGGCTTGACCTCTCAGGCACAGAGAAGAGCCCTGTCCAGGGGCAGCTACCTTCTTCTGCCCCCTTATCAGCAGGGGCCTGGCCAGTGTTTTCTTTTTTTTTTTTCAGTCCCCACTTGATCACTGAAGGGCCACCCACCCATGGGCATTTGCTCTCTGCCTTAAGGAGCTGGGCACTTAGACAGCAGACAGAGCAGAAATGGAGCCTGTGAGCCTGTCCATGTGTTCCCTCCCTGCCCTAGGCCTCAGCTGCTCCCGCAGCCCATCTGGTACCGCTGGAGGCCCTGTGTCCACCCCAGGGTGGTCAAATCTTTGACTATGACCCGTCTTGACTTCTAGTTATTTCCTCTAAGGAGATGTTCTCCCAGCAGCGCCATCTGTGAAGGTGTCTTGGGCAAGCCCAGCTTGAGTATGAAGGGGAGTCTTTGGGACTCATCAACTATGGCCTCCCCAACCCAAAAGCCTGAGGGTGTGGGGGCCTGGGAGTCAGTGCTTCTGGGAGCAGGGCCAGCACCTCTGGAATTCATGGGGGCTGGGCAAGGCCTTGGGTTCAGCTGGCTGCCCAGGGATGGCAGGGAGAGCTTGGGGAGGGGGCTTTTGGGTTGAGCTGCATGCCTGAGAGAGGATTCTAGGGAGACCCAGAAGCTTCTGGGACAGTGTGGAGAAGCTGGCCGGAGCTCTTCTTAGTTTGCCTTGGGAGCAAGAGGGACGTGCCTGCTGTCACCGGGTCCGGATGGCCAGCCTGCCTCTGTCTGATGACTGTGGAGGAGGCAGAGTGTGAGTGTGAGCTGGTACAGGGGCTGTGTGTGTCACTGCTGAGCAGTCCCTGTGTGCACGTCCCTCTGTATAAGTTGGGTGCCATCTCCTCCCAGCTGGGCTATGTCTTCTTTGTCCCTTTGTAAGAGGGTGGGAGGATGAGGACTGTGGGCTGTCCCGGACCTGTGTGGAGAGGGGGCTGAGGGAGCGAGGTGTGCGAGTGGAGGGTGGGAGTGTCTTGGTCTTTCTCCATCCTGGTTGCCTGGTGTCCTCGGGCCTGTGGCATGAAGAGGGGCTGGTAAGAACTGCAGTGACTACCAGTCAGTGGATTGGGGCTATGGCTCCTGGGGCCACTGCCCAGGTTGGGAGCTGTTGTCCTTGGAACCCTTTCCGGTCTGAGACTATGGCGTGTGTGGTTGGGTGTGTGGGCCAGCGTCTCAGGGCAGTCACAGTGGCAGGTCTGCATCTGCATTGCCGGCGGGGAGCAGCACTGGGTGTTCCTGCCGAGTGGCCTGAATCCACGTCTGCCGGGAAATGTTGGAACTGTTTGGAGCCAGTCCTGTGCTGTGTGGCATTTTGGGAACCATGATGCCCAAACCTGGGGGTGGCCATTTGCTGTGGTCGCTTGGCTGAGGGGTGGGCATTCTGATGGAAGCTTTTTTTGGCCTCCTCCTCATTCTGCTTGGCCCCGGCAGAGATGTCATCGCTCCTGCCCCCGAGGTCCCATGGCCTGCCTCACCCACACCTCCGCCTTCCCCGGGTGCAG
Seq C2 exon
GTCCTGTCCCTGGGCGCCGACGTGCTGCCTGAGTACAAGCTGCAGGCACCGCGCATCCACCGCTGGACCATCCTGCATTACAGCCCCTTCAAGGCCGTGTGGGACTGGCTCATCCTGCTGCTGGTCATCTACACGGCTGTCTTCACACCCTACTCGGCTGCCTTCCTGCTGAAGGAGACGGAAGAAGGCCCGCCTGCTACCGAGTGTGGCTACGCCTGCCAGCCGCTGGCTGTGGTGGACCTCATCGTGGACATCATGTTCATTGTGGACATCCTCATCAACTTCCGCACCACCTACGTCAATGCCAACGAGGAGGTGGTCAGCCACCCCGGCCGCATCGCCGTCCACTACTTCAAGGGCTGGTTCCTCATCGACATGGTGGCCGCCATCCCCTTCGACCTGCTCATCTTCGGCTCTGGCTCTGAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000055118-KCNH2:NM_172056:5
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.169 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF084125=Ion_trans_N=WD(100=36.4),PF0052026=Ion_trans=PU(31.6=45.5)
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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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)