HsaINT0084323 @ hg38
Intron Retention
Gene
ENSG00000135519 | KCNH3
Description
potassium voltage-gated channel subfamily H member 3 [Source:HGNC Symbol;Acc:HGNC:6252]
Coordinates
chr12:49540899-49541764:+
Coord C1 exon
chr12:49540899-49541132
Coord A exon
chr12:49541133-49541629
Coord C2 exon
chr12:49541630-49541764
Length
497 bp
Sequences
Splice sites
5' ss Seq
GCGGTGAGG
5' ss Score
7.93
3' ss Seq
GAGTTTGTTTTTGTGCCCAGGGC
3' ss Score
7.4
Exon sequences
Seq C1 exon
ACAGTAACTTCGTGCTGGGCAACGCCCAGGTGGCGGGGCTCTTCCCCGTGGTCTACTGCTCTGATGGCTTCTGTGACCTCACGGGCTTCTCCCGGGCTGAGGTCATGCAGCGGGGCTGTGCCTGCTCCTTCCTTTATGGGCCAGACACCAGTGAGCTCGTCCGCCAACAGATCCGCAAGGCCCTGGACGAGCACAAGGAGTTCAAGGCTGAGCTGATCCTGTACCGGAAGAGCG
Seq A exon
GTGAGGGGCCACCTGGCCAGCCTGCCTCACCTTTGCAGTCTCACCCAGCCTGGCACCAGCCCCATCCACTGTCCCTCCTCCTTTCTGTTGCCATCTTCTCCATCTCCCCATGTCATCCCATCTTCCCATCCCCCCATCCAACCCCTCTTGCTCCATCCCACCTCTTGCCCCGGCTCCCCATCTCTACCTGCCTCACCCTAGCCTCAGCCTGCATTCAGTTCCAACCTCGGGTTTCCCGCATCCAACAGAAAAACATCCGCATTTCGGCAGGGCAGATCTACCACACGACAGGTCTGACCGTCATGTTTGCTCTCCCTTGCTTCCTTCCCCCAATTCCATCAAGCCCTGCCTTCAGTGAAACTGGACTGCCAGCCCTTCCCCCAGGAAACCGCTAGATCCTGCCTGTGTCTTGCCCGGGATGTCAGTGGAGCCAGGGCCTCTGTCACCTCAGGCAGTGCTGAGAATAGGAGGTGGGCTGAGTTTGTTTTTGTGCCCAG
Seq C2 exon
GGCTCCCGTTCTGGTGTCTCCTGGATGTGATACCCATAAAGAATGAGAAAGGGGAGGTGGCTCTCTTCCTAGTCTCTCACAAGGACATCAGCGAAACCAAGAACCGAGGGGGCCCCGACAGATGGAAGGAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135519:ENST00000257981:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.009 A=NA C2=0.223
Domain overlap (PFAM):
C1:
PF134261=PAS_9=PU(70.4=96.2),PF051168=S6PP=PU(61.5=70.9)
A:
NA
C2:
PF134261=PAS_9=PD(28.7=67.4),PF051168=S6PP=PD(37.4=73.9)
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:
CAGTAACTTCGTGCTGGGCAA
R:
CCTCGGTTCTTGGTTTCGCTG
Band lengths:
342-839
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