HsaINT0084329 @ hg19
Intron Retention
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49942678-49943423:+
Coord C1 exon
chr12:49942678-49942956
Coord A exon
chr12:49942957-49943223
Coord C2 exon
chr12:49943224-49943423
Length
267 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGC
5' ss Score
8.02
3' ss Seq
CTCTCGTCACCCTCCCCCAGCCC
3' ss Score
7.07
Exon sequences
Seq C1 exon
GCTGGCTGCAGGAGCTGGCCCGCCGACTGGAGACTCCCTACTACCTGGTGGGCCGGAGGCCAGCTGGAGGGAACAGCTCCGGCCAGAGTGACAACTGCAGCAGCAGCAGCGAGGCCAACGGGACGGGGCTGGAGCTGCTGGGCGGCCCGTCGCTGCGCAGCGCCTACATCACCTCCCTCTACTTCGCACTCAGCAGCCTCACCAGCGTGGGCTTCGGCAACGTGTCCGCCAACACGGACACCGAGAAGATCTTCTCCATCTGCACCATGCTCATCGGCG
Seq A exon
GTGAGCCCGGCCGCGCGCGTCTTCCCGGGGCCACTCCCAGACTTCTGCCCGCAGGCGGCGCCGTCCCACTCCCCGGAGGGCCTGAGGCCGGGGGCTCTTCCGCTTTAGGTGGCCGCGGAACCCGAGGCCGGGGGTGGGGGAGACTTCGCCCGCACAGCGGCCTTCAGGCCTTGCCTAGGAGCGTGCGGGCCGAGGACAGATGAGCCCAGCGTGGTGTCAGGCCGGGCCAGGTCCCCTAGGTGACCCCCTCTCGTCACCCTCCCCCAG
Seq C2 exon
CCCTGATGCACGCGGTGGTGTTTGGGAACGTGACGGCCATCATCCAGCGCATGTACGCCCGCCGCTTTCTGTACCACAGCCGCACGCGCGACCTGCGCGACTACATCCGCATCCACCGTATCCCCAAGCCCCTCAAGCAGCGCATGCTGGAGTACTTCCAGGCCACCTGGGCGGTGAACAATGGCATCGACACCACCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-KCNH3:NM_012284:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.096 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0052026=Ion_trans=FE(39.1=100)
A:
NA
C2:
PF0052026=Ion_trans=PD(4.2=14.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCCCTCTACTTCGCACTC
R:
TGGTGTCGATGCCATTGTTCA
Band lengths:
304-571
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- 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)