HsaINT0084330 @ hg19
Intron Retention
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49943224-49944112:+
Coord C1 exon
chr12:49943224-49943423
Coord A exon
chr12:49943424-49943862
Coord C2 exon
chr12:49943863-49944112
Length
439 bp
Sequences
Splice sites
5' ss Seq
GAGGTGCGG
5' ss Score
6.79
3' ss Seq
CCGCACCTGCTCACCTGCAGCTG
3' ss Score
7.79
Exon sequences
Seq C1 exon
CCCTGATGCACGCGGTGGTGTTTGGGAACGTGACGGCCATCATCCAGCGCATGTACGCCCGCCGCTTTCTGTACCACAGCCGCACGCGCGACCTGCGCGACTACATCCGCATCCACCGTATCCCCAAGCCCCTCAAGCAGCGCATGCTGGAGTACTTCCAGGCCACCTGGGCGGTGAACAATGGCATCGACACCACCGAG
Seq A exon
GTGCGGCCTCCGGGGCTGGGCCTGCTAGCCTTTGCTCCCTCAGGGGGTTTGCAATAGCCTAGAATTATCAGGAGTGGGGGAGGATGAATGCAGAATTTTGGCCCCTGTGCCTCCCTTCTCTCTTGAGGGGACAGCGGCATGGGACAGAGGGCAGCTAAGAAGGCTTGGAGGGCCCTCTGAACCGCAGTTAGGTCTGGGGGCTTGGTACTCACTGAGGTGGGAAGCTGGGCTGCTCTGGGCGCTAAAGTGATTGAGAGGGAGGTGGAGGAAGCCCCCTCGCTGCCACCCTGTGTGGAGCTTGGAGTTGTGAGAGAGGCCTCAGGTCCCTCCCATGCCTCCCCTGTTCCTGAGGCCTGCCAGGGTGGAGAGGGGCTGGCTGGAGGCCACCTCCTCTTCTGCCACTCCCAACCCCCCCACCCCCGCACCTGCTCACCTGCAG
Seq C2 exon
CTGCTGCAGAGCCTCCCTGACGAGCTGCGCGCAGACATCGCCATGCACCTGCACAAGGAGGTCCTGCAGCTGCCACTGTTTGAGGCGGCCAGCCGCGGCTGCCTGCGGGCACTGTCTCTGGCCCTGCGGCCCGCCTTCTGCACGCCGGGCGAGTACCTCATCCACCAAGGCGATGCCCTGCAGGCCCTCTACTTTGTCTGCTCTGGCTCCATGGAGGTGCTCAAGGGTGGCACCGTGCTCGCCATCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-KCNH3:NM_012284:9
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=PD(4.2=14.9)
A:
NA
C2:
PF0002724=cNMP_binding=PU(45.5=47.6)
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:
CTTTCTGTACCACAGCCGCAC
R:
CATGGAGCCAGAGCAGACAAA
Band lengths:
349-788
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)