Special

HsaEX0052382 @ hg38

Exon Skipping

Gene
ENSG00000111344 | RASAL1
Description
RAS protein activator like 1 [Source:HGNC Symbol;Acc:HGNC:9873]
Coordinates
chr12:113100628-113105883:-
Coord C1 exon
chr12:113105714-113105883
Coord A exon
chr12:113103946-113104081
Coord C2 exon
chr12:113100628-113100680
Length
136 bp
Sequences
Splice sites
3' ss Seq
TCGCCTCCCACCCGCTGCAGAAT
3' ss Score
7.2
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CTGGTGTCCCAGCCAGGGCCCTGTTCCCGCCCTCGGCCATTGTTCGAGAAGGCTATCTGCTGAAGCGCAAGGAGGAGCCTGCCGGCCTGGCCACGCGCTTTGCCTTCAAGAAGCGCTACGTCTGGCTCAGCGGGGAGACCCTCTCCTTCTCCAAGAGTCCTGAGTGGCAG
Seq A exon
AATGTGAATGAGCTCAACCAGTGGCTCTCGGCCTTGCGCAAGGCCAGCGCCCCCAACCCGAACAAGCTGGCCGCCTGCCACCCCGGTGCCTTCCGCAGCGCGCGCTGGACCTGCTGCCTCCAGGCTGAGCGCTCAG
Seq C2 exon
GCTGAAATTACTGGAGGATTCTAACATGGATACAACTCTGGAGGCAGACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111344_MULTIEX2-2/4=C1-C2
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=0.263
Domain overlap (PFAM):

C1:
PF0016924=PH=PU(40.2=75.4)
A:
PF0016924=PH=PD(15.0=34.8),PF0077914=BTK=PU(68.8=47.8)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGCCAGGGCCCTGTTC
R:
TCTGCCTCCAGAGTTGTATCCA
Band lengths:
210-346
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