Special

HsaINT0084344 @ hg38

Intron Retention

Gene
Description
potassium voltage-gated channel subfamily H member 4 [Source:HGNC Symbol;Acc:HGNC:6253]
Coordinates
chr17:42170107-42171995:-
Coord C1 exon
chr17:42171788-42171995
Coord A exon
chr17:42170302-42171787
Coord C2 exon
chr17:42170107-42170301
Length
1486 bp
Sequences
Splice sites
5' ss Seq
TTGGTGAGC
5' ss Score
7.43
3' ss Seq
TGCATCCGTCCACCCTGCAGGCT
3' ss Score
7.82
Exon sequences
Seq C1 exon
ACCTCGCTGGTGCACCTACTGAAGACAGTGCGGCTGTTGCGGCTGCTGCGGCTGCTGCAGAAGCTGGAGCGGTACTCTCAGTGCAGTGCTGTGGTGCTCACGCTGCTCATGTCGGTCTTTGCGCTCCTTGCCCACTGGATGGCCTGCATCTGGTATGTCATCGGGCGCCGGGAGATGGAGGCCAATGACCCGCTGCTCTGGGACATTG
Seq A exon
GTGAGCCACCGACCCCAAACTTTCACAGACCACCTGTCCACCTGTCCCATCCCCAAGCTGATGCCTCCACCAGTACCCACACCCCTCATCCCACATTCCTCTATCCATCCAACAAACATGCGTTGAGCTCTTTCTGGATCAAGCATGGGAATATTGATTTGCAGACAAGGGCTCTGTTTTGGGGGCAGGTTGGGGGGAACTCACAGCCTAGTGGGGGAGCAAGACCAGTGATAGTGATCAAAGTACAACGCAGGAAACACTCTGAGGGTGGAGGGGTGTGTTTCAGGCAGAAGGAGCAGCACGTGAAAAGTCCCAGAAAGAGCTTAGCATCTCTGCCCCCATCAATCCCTTCTTCTCCAAGCTTCATGGCCATGAGCCAGGAGACAGCCCCAGGCCCTTGGAATCCCTCTGAAAGGCCTGTCAGATCCCGGGCATGGTCCCTGACACCTCCCTTTCCTTTACCCCACACCTAGCCCACCACATCAATACCACCTCTCAAATGTCCCGTGAATTTGACCTTTTCTCTCCATCCTCTCTGCCCCTTCCCAGTCCACTCCACCTCCCTTTCTCACCCAGGCCTGTGCAATAGCCTCCCTACTGATTTCCCAATCCCCTTCTCATCCCCCCCACAACCACCATCCTCACCACAGCCAAATGGGTGTTCCAGGATTCAACGTTGACCCACTACACTCCTTCTGGGATTCCTTCAGTGGCTTCCCACTGCCCTCCAAATGAAGTCCACACTCACTGCACACCCTGGGCGGCCCTGTGCCCCTTCTCTCCCCACCTGCCTTCCCGTTCTCCCGTGCTCCCTGCGCTGCAGCCACACCAGCCTCTCCCCTGGACCCAGGACATACTGCTTTCTCATGCTGGGCCTGGAACATGTTCTTTTCCTCTCTGGAATCCTCCTCTTTTGTCTTCCCTCTCCACCTAGATGGATTTTCCGTTCCCTGCCTCACTTGGAACAATGTTCCTTCGGTTCCATGTGTCTCAACCAAAATGTCCTGTCCTAAGGAGCATGCCTTCCAGGCACCATGTCCAGAACCCCCAACTGCCAATGGGTTGGCTTTCCCTAACCTGTTAGGATTCCTAACACACCCTATACAATACTTTCCTTCCAGGAGCTCACCTCCCACCTGTAATGATTTATGTCATGTCTCTTTCCCCTCCAGGCTATAGGTTCCACCAGGGCAGGGAGAGTGTTTGGCTGGGTCAATTCCCCAACACTTTGTATACAGCAGGTGCACAATAAACTATTAGAAAGTTTCAGGAGCCTTTGAACACTCAGCAATGTAGTTAGTTGGCGGCCTTGGAATGCAACTGTAACCAATGCACCATGGGGAGACACAGGCCCAGGCCACTCCCCACATTTCCTGTGCCAACCTGTGTATAAATACTTGCCGAAGGTCAAGCGTAGGTGGCTCAGGGAACCCTGGTTCTCCACCGCTGGCACAGCCAGGGCTCCCTGCATCCGTCCACCCTGCAG
Seq C2 exon
GCTGGTTGCATGAGTTGGGCAAGCGTCTGGAGGTGCCCTATGTCAATGGCTCGGTGGGCGGCCCATCACGGCGCAGCGCCTACATCGCGGCACTGTACTTCACTCTAAGCAGCCTCACCAGTGTGGGCTTTGGCAACGTGTGTGCCAACACCGACGCGGAGAAGATCTTCTCCATCTGCACGATGCTCATAGGCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089558:ENST00000264661:7
Average complexity
IR
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=FE(32.9=100)
A:
NA
C2:
PF0052026=Ion_trans=FE(31.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGTGCACCTACTGAAGAC
R:
TTGGCACACACGTTGCCAAAG
Band lengths:
351-1837
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development