Special

HsaINT0085426 @ hg38

Intron Retention

Gene
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6415141-6415457:-
Coord C1 exon
chr19:6415380-6415457
Coord A exon
chr19:6415302-6415379
Coord C2 exon
chr19:6415141-6415301
Length
78 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CTGCCTTTGTCCACCCACAGCGC
3' ss Score
9.96
Exon sequences
Seq C1 exon
GCCAGCAGCCCCAGCAGCCCGGAGCACCCCCACAGCAGGACTACACGAAGGCTTGGGAGGAGTACTACAAGAAGCAAG
Seq A exon
GTGAGTGGCCACCATGCGGGGACAGGGGCAGGGGCAGCCCTCACCCACAGCCTCTCACCTGCCTTTGTCCACCCACAG
Seq C2 exon
CGCAAGTGGCCACCGGAGGGGGTCCAGGAGCTCCCCCAGGCTCCCAGCCAGACTACAGTGCCGCCTGGGCGGAATATTACAGACAGCAGGCCGCTTACTACGGACAGACCCCAGGTCCTGGCGGCCCCCAGCCGCCGCCCACGCAGCAGGGACAGCAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247:ENST00000398148:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

No structure available
Features
Disorder rate (Iupred):
  C1=0.982 A=NA C2=0.859
Domain overlap (PFAM):

C1:
PF090055=DUF1897=PD(18.5=18.5)
A:
NA
C2:
PF090055=DUF1897=PD(14.8=7.4),PF090055=DUF1897=WD(100=55.6)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACCCCCACAGCAGGACTA
R:
TGGGGTCTGTCCGTAGTAAGC
Band lengths:
167-245
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