HsaINT0084317 @ hg19
Intron Retention
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49932940-49934915:+
Coord C1 exon
chr12:49932940-49933275
Coord A exon
chr12:49933276-49934681
Coord C2 exon
chr12:49934682-49934915
Length
1406 bp
Sequences
Splice sites
5' ss Seq
CGCGTGAGT
5' ss Score
8.4
3' ss Seq
TGAGAAGTGCTCTCTTGCAGACA
3' ss Score
5.53
Exon sequences
Seq C1 exon
GGCCGCGGGGCCTGGAGCCCGGGATTTGTGGGCGGCGAGGGCGCGAGGGGCCGCGCGCCATGCTCCGGGCCCCGACGGCGCGGACGCCCCCTCGCGCGCCAGCGTCCGGCGCGACCCCGGATCCCGGTCTGCGCATTGCCCCCCGACGGCTGCGCTAGGGAGCGCGGGGCCCGGCGGGGGGCGGCCGAGCTGGGCGCCCTCCCCCGGCGCGGAGTCCCCGCACCCCGGAGGGATGGGGCGGGCAGCCGCGGGCGCCTAAGATGCCGGCCATGCGGGGCCTCCTGGCGCCGCAGAACACCTTCCTGGACACCATCGCTACGCGCTTCGACGGCACGC
Seq A exon
GTGAGTCCGACCCTCGCCCACTTGCACCCGGGCCGCCGGACCCTCGCCAGGGCTCCCGCCTTCCCCGAACCCCCAGCAGCCCAGCTTGGCGCCAGCCTATTCTCACCCTCTCCTCCCTACCCGCCCCTCTTGAGGCTGGGGCCATCGTCTCCTGCTAGGCGCTGTTTCCCCGAAGGTTCGAAGGTTCGGGGTCAACACTGCTTCAGGCGAGGCAACAGGGCCAGAAGTCCCTGGGTGTGGGTCCTGGGATGCTCTCTGTTAGCCGGGTCTCGAACCCGAACCTAGTCAGTCTGACCCATCCCACCCCTGCGTCTGGCGCTGTCGCAGCAACTACCCTCGGACTGGTGGGGTAAGGCGAGGCGGGTGAACAGTGCTCAGGGACAGCTGAGAGGGCTCAAAACACAGATTTAGAAAAGAGATTTGCAAACGGAGATAAGAGTAGGCGGCACTCGGGAGAGCACCGTGTGTCCAAGCCCCGTGTCTCATAGCCTGAACCCCCTAGACTTGGGGAGGCCATCTAGCCCCAAGAAGATGGTTTGGGGACTCCCATCAGGACTGGGGAAGTTTGGAGAAGGCGCCCCGAGCTCTGGATCCCCGGTTCTGGGGGCTCTGAGCACAGGGGAAGTGATGAAAGCCCCTCCCTCCTCCTCTCCCTCACATCCCCCGTGGGGCTTCCCAGCTCTCTGCCTAGGTCCTCCTTGGTCTCCGGTTCCTGATAGGGGGTGGGAGCCCAGCCCTGCGCTCTCCCCACTCCGGGCTCCTCCATCTGCTTTGCCAGTGTGCTTGGCTCCTGCAGCCTGCTGATTCAGTGCCCCCCACTCCCCAATACATTCCTGGCTCCTGGCTCCCGTGCTCAGTCACCATTCTTACACCCCCATTCTTGATCACATTCACTAATTCCTGAGCCAGGTCAGGCAGCTAGGGCTAAAACACAGACAGCAGGATGTATGGTGGTCTGGGGTTGCCTCCAGTCTAGGTGTGTCTCAGTGGGAGAAGCCAGACAGCCAACCTGGGTACCTGGCTAGTGGGTGAGCCTGGCAGAAGTAGAGGTGGGGCTGAGGCTGGCCCAGAGCTGGCAGGGCAGTCCTCATTAGGGATTCCCCAATCCCAGCCCTTACCCCACATTGCTCAGGACACCCTCCAGAAGGCACAGTGCCCGCACAGCGCTTCATTCACCGACCTCAGTTCACATGTGCTGATCCTTGAATGTACTCACACCTGCTGCAGGGCACTGACAAACAGGTGACACACACTGATTGCTATTCATAAACAGCCCTGCCTTAACACACGCAGGATTCCTGGGGTTTGGAAAACCCACTCTTTGGTTGCAGGCATTTGAGAAAGGAGGGGTGGTAGGCCTCCTGCCCCTTCACCCCACGCCTCCTCTGAGAAGTGCTCTCTTGCAG
Seq C2 exon
ACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTGACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCCAACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGATCCTGTACCGGAAGAGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519-KCNH3:NM_012284:1
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.013
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF134261=PAS_9=PU(70.1=94.9),PF051168=S6PP=PU(60.2=67.1)
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:
CTGGAGCCCGGGATTTGTG
R:
TTGCCCAGCACGAAGTTACTG
Band lengths:
347-1753
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)