Special

HsaINT0085418 @ hg38

Intron Retention

Gene
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6417739-6418079:-
Coord C1 exon
chr19:6417981-6418079
Coord A exon
chr19:6417842-6417980
Coord C2 exon
chr19:6417739-6417841
Length
139 bp
Sequences
Splice sites
5' ss Seq
GATGTGAGT
5' ss Score
7.77
3' ss Seq
GCTGCTGCCTCCCTCCCCAGGTG
3' ss Score
11.62
Exon sequences
Seq C1 exon
CAAGCCTGTGAGATGGTGATGGACATCCTCCGGGAACGTGACCAAGGCGGCTTTGGGGACCGGAATGAGTACGGATCTCGGATTGGCGGAGGCATCGAT
Seq A exon
GTGAGTGTGGGCCCTGCCTTCACCCCCCTCTCCCCCGCCAGTGGAGGGAGGGGCCGGGGTGAGTGGCTCCTTGTGGCCAGTGGGCAGCAGAGGGCAGCAGAGCTGCGGGCCGAGCTGACGCTGCTGCCTCCCTCCCCAG
Seq C2 exon
GTGCCAGTGCCCAGGCATTCTGTTGGCGTGGTCATTGGCCGGAGTGGAGAGATGATCAAGAAGATCCAGAATGATGCTGGCGTGCGGATACAGTTCAAGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247:ENST00000398148:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.491 A=NA C2=0.267
Domain overlap (PFAM):

C1:
PF0001324=KH_1=PD(7.7=15.2),PF0001324=KH_1=PU(3.2=6.1)
A:
NA
C2:
PF0001324=KH_1=FE(54.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGCCTGTGAGATGGTGATGG
R:
CTTGCTTGAACTGTATCCGCAC
Band lengths:
202-341
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