Special

HsaEX6035140 @ hg38

Exon Skipping

Gene
ENSG00000116191 | RALGPS2
Description
Ral GEF with PH domain and SH3 binding motif 2 [Source:HGNC Symbol;Acc:HGNC:30279]
Coordinates
chr1:178889642-178897756:+
Coord C1 exon
chr1:178889642-178889696
Coord A exon
chr1:178893919-178894024
Coord C2 exon
chr1:178897664-178897756
Length
106 bp
Sequences
Splice sites
3' ss Seq
TCTTTTCTTCGTTATTATAGTTC
3' ss Score
7.22
5' ss Seq
ACAGTAAGA
5' ss Score
5.96
Exon sequences
Seq C1 exon
GTAGCAGCGATGGTTCTGAACTAAGTGAAGAGACCTCATGGCCTGCTTTTGAAAG
Seq A exon
TTCTGCAGAATCAGAAGATTTGGCAGTACATTTATATCCAGGAGCTGTTACTATTCAAGGTGTTCTCAGGAGAAAAACTTTGTTAAAAGAAGGCAAAAAGCCTACA
Seq C2 exon
GTAGCATCTTGGACAAAATATTGGGCAGCTTTGTGTGGGACACAGCTTTTTTACTATGCTGCCAAATCTCTAAAGGCTACCGAAAGAAAACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000116191-'47-56,'47-54,50-56=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.404 A=0.000 C2=0.011
Domain overlap (PFAM):

C1:
NO
A:
PF154131=PH_11=PU(24.3=47.2)
C2:
PF154131=PH_11=FE(44.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTAGCAGCGATGGTTCTGAACT
R:
TGTTTTCTTTCGGTAGCCTTTAGAGA
Band lengths:
147-253
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains