HsaEX6092247 @ hg38
Exon Skipping
Gene
ENSG00000088247 | KHSRP
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6418702-6420144:-
Coord C1 exon
chr19:6420073-6420144
Coord A exon
chr19:6419203-6419256
Coord C2 exon
chr19:6418702-6418876
Length
54 bp
Sequences
Splice sites
3' ss Seq
TATCTCCTCTTTTCAGACAGCGG
3' ss Score
3.44
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
TCATTGGCAGAGGAGGTGAACAAATTAACAAAATCCAACAGGATTCAGGCTGCAAAGTACAGATTTCTCCAG
Seq A exon
CGGTGGCCTACCCGAGCGCAGTGTGTCCTTGACAGGAGCCCCAGAATCTGTCCA
Seq C2 exon
GAAAGCCAAGATGATGCTGGATGACATTGTGTCTCGGGGTCGTGGGGGCCCCCCAGGACAGTTCCACGACAACGCCAACGGGGGCCAGAACGGCACCGTGCAGGAGATCATGATCCCCGCGGGCAAGGCCGGCCTGGTCATTGGCAAGGGCGGGGAGACCATTAAGCAGCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247-'15-12,'15-11,16-12
Average complexity
S*
Mappability confidence:
88%=100=75%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.650 A=0.930 C2=0.595
Domain overlap (PFAM):
C1:
PF0001324=KH_1=FE(38.1=100)
A:
PF0001324=KH_1=FE(30.2=100)
C2:
PF0001324=KH_1=PD(9.5=10.2),PF0001324=KH_1=PU(38.5=42.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATTGGCAGAGGAGGTGAACA
R:
GTTGTCGTGGAACTGTCCTGG
Band lengths:
144-198
Functional annotations
There are 1 annotated functions for this event
PMID: 19770516
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, mutation analysis. ELM ID: ELMI002009; ELM sequence: VQISPD; Overlap: PARTIAL_LEFT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains