Special

HsaEX0033409 @ hg19

Exon Skipping

Gene
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:6316]
Coordinates
chr19:6419214-6420482:-
Coord C1 exon
chr19:6420433-6420482
Coord A exon
chr19:6420084-6420155
Coord C2 exon
chr19:6419214-6419271
Length
72 bp
Sequences
Splice sites
3' ss Seq
CTCCTTCTTTCTCCATCCAGTCA
3' ss Score
9.14
5' ss Seq
CAGGTATAA
5' ss Score
7.46
Exon sequences
Seq C1 exon
GACTTCAATGACAGAAGAGTACAGGGTCCCAGACGGCATGGTGGGCCTGA
Seq A exon
TCATTGGCAGAGGAGGTGAACAAATTAACAAAATCCAACAGGATTCAGGCTGCAAAGTACAGATTTCTCCAG
Seq C2 exon
ACAGCGGTGGCCTACCCGAGCGCAGTGTGTCCTTGACAGGAGCCCCAGAATCTGTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.833 A=0.800 C2=0.950
Domain overlap (PFAM):

C1:
PF0001324=KH_1=PU(20.6=72.2)
A:
PF0001324=KH_1=FE(38.1=100)
C2:
PF0001324=KH_1=FE(30.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAATGACAGAAGAGTACAGGGTCC
R:
TGGACAGATTCTGGGGCTCC
Band lengths:
103-175
Functional annotations
There are 1 annotated functions for this event
PMID: 19770516
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, mutation analysis. ELM ID: ELMI002009; ELM sequence: VQISPD; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development