Special

HsaEX0052386 @ hg38

Exon Skipping

Gene
ENSG00000111344 | RASAL1
Description
RAS protein activator like 1 [Source:HGNC Symbol;Acc:HGNC:9873]
Coordinates
chr12:113119128-113135599:-
Coord C1 exon
chr12:113135398-113135599
Coord A exon
chr12:113127812-113127873
Coord C2 exon
chr12:113119128-113119259
Length
62 bp
Sequences
Splice sites
3' ss Seq
ACGTGCCCGCCTTCCTGCAGGCA
3' ss Score
10.38
5' ss Seq
GAGGTGGGC
5' ss Score
6.32
Exon sequences
Seq C1 exon
CTACCCGGGTCTCGGACAGGCGGCACTGGGACCACGAGGCAGGGAGCCAGGCTTGAAGCAGGTGACATGTAGACGTCCCCTGGTCCAGCCTCGGAACCTGAGCGCCCTTCTGCCTGGAAAGTTTGTGGCTAGGCGCCATGGCCAAGAGCAGCTCCCTGAATGTTCGCGTGGTGGAGGGCCGCGCGCTGCCTGCCAAGGACGT
Seq A exon
GCACGACGACATCATCGGCAAGATCTCGCTGAGCAGGGAGGCGATTACAGCCGACCCCCGAG
Seq C2 exon
ACCATCAAGAAGACTCGCTTCCCGCACTGGGATGAAGTGCTGGAGCTGCGGGAGATGCCAGGTGCCCCGTCCCCACTGCGGGTGGAGCTCTGGGACTGGGACATGGTGGGCAAGAATGACTTCTTGGGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111344_MULTIEX1-3/7=C1-6
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0016825=C2=PU(18.3=68.2)
A:
PF0016825=C2=PD(11.0=40.9)
C2:
PF0016825=C2=FE(52.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCTTCTGCCTGGAAAGTTT
R:
CTCCAGCACTTCATCCCAGTG
Band lengths:
144-206
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development