HsaEX0033409 @ hg38
Exon Skipping
Gene
ENSG00000088247 | KHSRP
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6419203-6420471:-
Coord C1 exon
chr19:6420422-6420471
Coord A exon
chr19:6420073-6420144
Coord C2 exon
chr19:6419203-6419260
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=0.663 A=0.650 C2=0.930
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)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
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
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