Special

HsaINT0084323 @ hg19

Intron Retention

Gene
Description
potassium voltage-gated channel, subfamily H (eag-related), member 3 [Source:HGNC Symbol;Acc:6252]
Coordinates
chr12:49934682-49935547:+
Coord C1 exon
chr12:49934682-49934915
Coord A exon
chr12:49934916-49935412
Coord C2 exon
chr12:49935413-49935547
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-KCNH3:NM_012284:2
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.013 A=NA C2=0.261
Domain overlap (PFAM):

C1:
PF134261=PAS_9=PU(70.1=94.9),PF051168=S6PP=PU(60.2=67.1)
A:
NA
C2:
PF134261=PAS_9=PD(29.0=67.4),PF051168=S6PP=PD(38.6=73.9)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
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