Special

HsaINT0084331 @ hg38

Intron Retention

Gene
Description
potassium voltage-gated channel subfamily H member 4 [Source:HGNC Symbol;Acc:HGNC:6253]
Coordinates
chr17:42178793-42181278:-
Coord C1 exon
chr17:42180870-42181278
Coord A exon
chr17:42179027-42180869
Coord C2 exon
chr17:42178793-42179026
Length
1843 bp
Sequences
Splice sites
5' ss Seq
CGCGTGAGT
5' ss Score
8.4
3' ss Seq
TTGACCTCTTCTTCCCACAGACA
3' ss Score
11.83
Exon sequences
Seq C1 exon
GTGGGCCGCTCCCCTCTGGGAGGAGGGCTGCCCAGAGGGGTGCGGGTGTCGCTAGCGGCCCCTCCCCGTGTGGGGCCACGTGGCGGGTGCGGGCCGAGCCCGAGGGGAAGAACCTGGCCCGTGGGGAGGTGGGGGGGACCGAAACGGCGCTGAGCCGAGCCGAGAGCTACGGGGTTCGGAGCAGAGGCAGCGGCAGCGGCAGCGGCAGTAAGAGGGAGGGGAGGAGGCAGGAGGGCGCATGGGGCGCCCCGGCCCCTCCGACAGCGCGCCCCCTCCGGCCCGGCCGCGCTGAAAGCTCCCCAGCGCCGCGCCTTGAACCCACGCCCCGGGGCCATGCCGGTCATGAAGGGGTTGCTGGCCCCGCAAAACACCTTCCTGGACACCATCGCCACCCGTTTTGACGGAACGC
Seq A exon
GTGAGTGGGACGGAGGTCGGGGCTTGAGGTTCGAGCTGGGGGGCAAGTATCCTCGGGGCCGTCTCGGATCTCCTGGACATGGTGAGACCCGAGGCGAGGGGAGAGAATGGAGGTGCGGGTCTAGGAACTCCCAAAGCCGCGGTGCAGGAACAGGGCGGGGAGTGCCCTGCGAGGGGAGGAGGGGAAAGGGCCGAGAGCACGGGGGCCAAGGTTAGGGGGTGTGACTCGAGGCAGAAGAGGCTCTTTGTGCGGCAGAGCGGAGGAGGGTCCTTCGGAGCCGCCCACTCTCGGGCAGAGCTGTGCTGGGGGCGTGTATGGGGGTATCCGAGACACAGAAGTGGGGCAAAGTGGCCGGGCATTCTGGGGTCTACTCACAGACTCCAGCTCCCACTACCTCCAGAAAAAAAGGAGAAAAGATCAGACTTCAGCAGGACCTAGTTTGGATTGAGGTCGCGCGCCCCCAAATCGTGGGGCGTCAGTGTCTAAGGTGGGTGAGGCAGGAGGAGGGGAGCGGTCTGTGCGACGGTGGGAACTCCCAGCTCGCCCAACGTAGCTTGGGTTTCAGGTTCAGCACCTTGGACAGCCACATCACTCCTCCCCCGCCTCTTCTCCCGCCATTCCCTCTTCCCACTCTGGAACCCAGAGATTCCCCGCCCTCACCTCCCCCAACCCCGCCATTCCCTCGGGAACCCTGGCCGGGATCTGGATGGTGGGGGAGCGGTACCCGAGGGCGGAAACTGAGCCGCCGGGCCCTACCCTCTTCCCCACCACCTTGTTTCCATAGCGCCCATCACCGGGGCAACAGGCCCTGGGATGGAAGAAGGAGGCTGTGCCCAGAGCCCAGTGCCTCCCAGGCACCTTCAGTGTCCCCATCAGCCTCCCTGCCCCCAGACAGTCATCCCTCCTAGAGCACCAGGACTGGTTGTGTCACAGGCCCCATCTCTTAGCTGAGTCTCTGTCCCTGGATGGCCCACAGGAGTCCCCCTGGCCTCCCACCCATTGGAGCTGGAGGGAGACAGCTCGGGTTCTGCTGCTGGGGGTTGCTGGAGCTATACGCTCAATGCCCTCTCCCATTAGACTTTGAGCAGTGGGGCAGATCCCCTGAAAGCAGCTACAAGAATGCTAAAAAGTGGACCTTCTCTGGAAGGCAGGGAAGGAAGACAGCACTCATCACTGTCTGCCCCCACACTAAGGAGATCTGTGAGTTTGGATAATCTCTGCCTTTTGGTTTCCTATCAATAAATGGGTGTGGTGTCATCAGAATCTCTGCCCTGCTTACTCTGTAATAGGAAGAAAGCCAAGTGAATGTGGGGAAAAAATTTCACCTTCTCAGAGTAGCACTTACCATGTGCTAGGACTTGTTCTCCCCAAGTTAACTCATGTAACTCTCACAACGACCATGTGAGGAAGGCCTATTATGCCCTACTTTGCAAATAAGGAAAGCTTAGGCACAGAAGAGGTCATCAACTTGCCCAAGGTCACACAGTTAGTAAGTGGCAGTGGAGGGTTGCAGGAGCCCAGGCTCTTACTCACCATGCTATACTGCCTTCTACAGTGACAGCTCACCAGTTGGAAGGCAGGGGGATGGATGGCATGACCTCCTGGGGTCCTTCTCCAACTCCCCGTTAGACCCTGCTTAAGTCCTGTCTCAAGTCCTTGTCTCTTTGCTCCAACTTCTCCAATTCTCAATTCAGAATATCCCAAAGTGGGGTCAGGAGCAACATGGAAACCTGGGAAGCTTCTGGCTCTGTGACTTCTAACCCCAACTTAGAGGAAGTGCTGCCCACCTGGAAGCTAGCTCGCCTCCCAGCCTTGACCTGACCTTGACCTCTTCTTCCCACAG
Seq C2 exon
ACAGCAACTTCCTGCTGGCCAACGCACAGGGCACACGGGGCTTTCCCATCGTCTACTGCTCCGACGGCTTCTGCGAGCTCACAGGCTACGGTCGCACCGAGGTCATGCAGAAGACCTGCAGCTGCCGTTTCCTCTACGGCCCAGAGACCAGTGAGCCAGCCCTGCAGCGTCTGCACAAAGCCCTGGAGGGCCACCAGGAGCACCGGGCTGAAATCTGCTTCTACCGCAAGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000089558:ENST00000264661:1
Average complexity
IR
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=0.076
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
PF134261=PAS_9=PU(70.6=97.5)


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
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTAAGAGGGAGGGGAGGAGG
R:
TCTCTGGGCCGTAGAGGAAAC
Band lengths:
350-2193
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