Special

HsaEX0052382 @ hg19

Exon Skipping

Gene
ENSG00000111344 | RASAL1
Description
RAS protein activator like 1 (GAP1 like) [Source:HGNC Symbol;Acc:9873]
Coordinates
chr12:113539694-113542103:-
Coord C1 exon
chr12:113541966-113542103
Coord A exon
chr12:113541751-113541886
Coord C2 exon
chr12:113539694-113539814
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
ATGTGTCACTCCATCCCCGTGTCTCACATCCGCGCCGTGGAGCGCGTAGACGAGGGCGCCTTCCAACTGCCCCACGTGATGCAGGTGGTGACGCAGGACGGCACGGGGGCGCTGCACACCACCTACCTCCAGTGCAAG
Seq A exon
AATGTGAATGAGCTCAACCAGTGGCTCTCGGCCTTGCGCAAGGCCAGCGCCCCCAACCCGAACAAGCTGGCCGCCTGCCACCCCGGTGCCTTCCGCAGCGCGCGCTGGACCTGCTGCCTCCAGGCTGAGCGCTCAG
Seq C2 exon
CCGCCGGCTGCAGCCGTACACACTCAGCTGTCACCCTGGGGGACTGGAGTGACCCACTGGATCCTGATGCTGAGGCCCAGACAGTGTATCGGCAGCTGCTCCTGGGGCGGGACCAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111344-'17-22,'17-20,18-22
Average complexity
C1
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=0.134
Domain overlap (PFAM):

C1:
PF0016924=PH=FE(42.1=100)
A:
PF0016924=PH=PD(15.0=34.8),PF0077914=BTK=PU(68.8=47.8)
C2:
PF0077914=BTK=PD(28.1=22.0)


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:
ATGTGTCACTCCATCCCCGT
R:
CAGGAGCAGCTGCCGATACA
Band lengths:
242-378
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