Special

HsaINT0036334 @ hg38

Intron Retention

Gene
Description
chloride intracellular channel 6 [Source:HGNC Symbol;Acc:HGNC:2065]
Coordinates
chr21:34707280-34708069:+
Coord C1 exon
chr21:34707280-34707389
Coord A exon
chr21:34707390-34707943
Coord C2 exon
chr21:34707944-34708069
Length
554 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
3' ss Seq
TGCTGTTTCCTCCCACCTAGGAA
3' ss Score
9.45
Exon sequences
Seq C1 exon
GCTGGTTATGATGGTGAGAGTATCGGAAATTGCCCGTTTTCTCAGCGTCTCTTTATGATTCTCTGGCTGAAAGGCGTTATATTTAATGTGACCACAGTGGACCTGAAAAG
Seq A exon
GTAAGACAAGGCGTCTGCCTTACTGAAATAACTGTACCTAGTTCTCTGCACACACACACACACACACACACACACACACACCTGAGGCCAACGGTGCTGCATGGGCACGTCCATCCTCAGTCGGAGTCTGAACTGAAGCCCACATGTGGGCCAAGCAGTCATGACAGGGTCGGCTGGGCTGGAGTCAGGAAGGAGGAGGAGTTGGGGGTGCCGTGAAGAACCTGCTTCTCCAGTTGCTGGTCAGCTGTGACTCTCCCAAGCCTGTCTGAGCACCATCCCTGGCTGATAACACTGGGGAGAGTTAACTTTTTCACCTCTGTTTGTTGATATGCCCCTTTGTGCTCCGTATTCACAAAGGGGCACCTCAACAAGCCCATCATTTGTTAATGAATGCCTTTACTTTCATCGCCAGCAAGACATTTTCATAAACCCACCATCTACTTTGCAGTTCTCAAGAGTTGCTTCTCTTAAACTGGTGAGGACGCGGCTAAGCCCTGGAAATGAGTCCAGATTCTCACGGTGGCCCATAAACACTGCTGTTTCCTCCCACCTAG
Seq C2 exon
GAAACCCGCAGACCTGCAGAACCTGGCTCCCGGAACAAACCCTCCTTTCATGACTTTTGATGGTGAAGTCAAGACGGATGTGAATAAGATCGAGGAGTTCTTAGAGGAGAAATTAGCTCCCCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159212:ENST00000360731:3
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=0.302
Domain overlap (PFAM):

C1:
PF134171=GST_N_3=PU(41.1=81.1)
A:
NA
C2:
PF134171=GST_N_3=FE(57.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
ALTERNATIVE
([1])
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGGTTATGATGGTGAGAGT
R:
CTCGGGGGAGCTAATTTCTC
Band lengths:
236-790
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