HsaEX6092245 @ hg38
Exon Skipping
Gene
ENSG00000088247 | KHSRP
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:HGNC:6316]
Coordinates
chr19:6421650-6424794:-
Coord C1 exon
chr19:6424453-6424794
Coord A exon
chr19:6422340-6422436
Coord C2 exon
chr19:6421650-6421688
Length
97 bp
Sequences
Splice sites
3' ss Seq
TGCTTACTACTTTATTCTAGATT
3' ss Score
7.56
5' ss Seq
GAGGTAACT
5' ss Score
8.77
Exon sequences
Seq C1 exon
TGTGGAGCGAGGCCTTGTTCCCGCGTTGAGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCAGCCTCCGCGCCAGGCCCGGCCCCGCCGCGCCATGTCGGACTACAGCACGGGAGGACCCCCGCCCGGGCCGCCGCCGCCCGCCGGCGGGGGCGGGGGAGCCGGAGGCGCCGGGGGAGGCCCTCCGCCGGGCCCGCCAGGCGCGGGGGACCGGGGCGGCGGCGGTCCCGGCGGCGGCGGCCCGGGCGGGGGGTCGGCCGGGGGCCCCTCTCAGCCACCCGGCGGAGGCGGCCCGGGAATCCGCAAGGACGCTTTCGCCGACGCCGTGCAGCGGGCCCGCCAG
Seq A exon
ATTGCAGCCAAAATTGGAGGCGATGCTGCCACGACAGTGAATAACAGCACTCCTGATTTTGGTTTTGGGGGCCAAAAGAGACAGTTGGAAGATGGAG
Seq C2 exon
ATCAACCGGAGAGCAAGAAGCTGGCTTCCCAGGGAGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247-'0-6,'0-3,8-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.996 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTACAGCACGGGAGGACC
R:
GCTTCTTGCTCTCCGGTTGAT
Band lengths:
263-360
Functional annotations
There are 1 annotated functions for this event
PMID: 16914741
Partially encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: glutathione s tranferase tag, mutation analysis, pull down, two hybrid. ELM ID: ELMI002513; ELM sequence: FADAVQRARQI; Overlap: PARTIAL_LEFT
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains