Special

HsaINT0085419 @ hg38

Intron Retention

Gene
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6416987-6417841:-
Coord C1 exon
chr19:6417739-6417841
Coord A exon
chr19:6417088-6417738
Coord C2 exon
chr19:6416987-6417087
Length
651 bp
Sequences
Splice sites
5' ss Seq
AAGGTCAGG
5' ss Score
6.23
3' ss Seq
TCTCTCGGTGCTGGCCTCAGATG
3' ss Score
7.32
Exon sequences
Seq C1 exon
GTGCCAGTGCCCAGGCATTCTGTTGGCGTGGTCATTGGCCGGAGTGGAGAGATGATCAAGAAGATCCAGAATGATGCTGGCGTGCGGATACAGTTCAAGCAAG
Seq A exon
GTCAGGGCCTGGCCCACCCTGCCCCTGGCCAGTGCACCCCCACCCTCTTTGGGAGGCAGGCTCTGAGGGAGCTGGGCACCGTGGTCAGCCAGGTGGCCTCCATAGCACCTCACGGCTCTTAGTCCAGCCGTCAGAACATGGCCAGTCCCTTCTCTTCTCTGGGACAGACACATGAGGGCTTTCCACATCCAGGGGGAACGTGTGTTCCTATCCCTATCAGATCTCCTCTTCCTCCCCCTACGATGGAGCCTATCCTGACAGGACAGCCCTGGGTGCCCCGCAGGCTGGATCAGGGCACTCCACCTCAGCTCTGGGCTCTTGCCAGTCCTCAGGCAGTCTCTGAGCTGCCTGCCGTGGGGAGAAGGGCCCCTCTGGCTTTTCAGAGATTTATTGTTCTGTAAAATCTCTCAGTGCTGGGGGTGCTGTGTGCTGGAAGAAGCTTGAGCCACCTCCTGGCTTGGCCGTGGGTTTCCTTCTCTGGGAATGTGGGCCGCCTCCCCCTCAATCCCTGAGCGAGTGGAGGCTGGGAGCGGCGCAGCGCGTCTGAGATCTCAGGCCGGCGTGGTGTCTGCGCTGGAGGCGGCGTTGCAGGGCTCTGGGGTGGGCTCTTCTTTTAAACTTGTGTCTCTGCTCTCTCGGTGCTGGCCTCAG
Seq C2 exon
ATGACGGGACAGGGCCCGAGAAGATTGCTCATATAATGGGGCCCCCAGACAGGTGCGAGCACGCAGCCCGGATCATCAACGACCTCCTCCAGAGCCTCAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247:ENST00000398148:11
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.267 A=NA C2=0.676
Domain overlap (PFAM):

C1:
PF0001324=KH_1=FE(54.0=100)
A:
NA
C2:
PF0001324=KH_1=PD(39.7=73.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCATTCTGTTGGCGTGGTCAT
R:
CCTGAGGCTCTGGAGGAGG
Band lengths:
190-841
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