Special

HsaEX6092245 @ hg19

Exon Skipping

Gene
Description
KH-type splicing regulatory protein [Source:HGNC Symbol;Acc:6316]
Coordinates
chr19:6421661-6424822:-
Coord C1 exon
chr19:6424464-6424822
Coord A exon
chr19:6422351-6422447
Coord C2 exon
chr19:6421661-6421699
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
AGAGTGCTCCGCGGCCGTGTGGAGCGAGGCCTTGTTCCCGCGTTGAGCCGCCGCCGCCGCCGCCGCCTCCTCAGCTTCAGCCTCCGCGCCAGGCCCGGCCCCGCCGCGCCATGTCGGACTACAGCACGGGAGGACCCCCGCCCGGGCCGCCGCCGCCCGCCGGCGGGGGCGGGGGAGCCGGAGGCGCCGGGGGAGGCCCTCCGCCGGGCCCGCCAGGCGCGGGGGACCGGGGCGGCGGCGGTCCCGGCGGCGGCGGCCCGGGCGGGGGGTCGGCCGGGGGCCCCTCTCAGCCACCCGGCGGAGGCGGCCCGGGAATCCGCAAGGACGCTTTCGCCGACGCCGTGCAGCGGGCCCGCCAG
Seq A exon
ATTGCAGCCAAAATTGGAGGCGATGCTGCCACGACAGTGAATAACAGCACTCCTGATTTTGGTTTTGGGGGCCAAAAGAGACAGTTGGAAGATGGAG
Seq C2 exon
ATCAACCGGAGAGCAAGAAGCTGGCTTCCCAGGGAGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000088247-'1-2,'1-1,2-2=AN
Average complexity
A_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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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
This event
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