Special

HsaEX0053307 @ hg38

Exon Skipping

Gene
Description
ral guanine nucleotide dissociation stimulator like 1 [Source:HGNC Symbol;Acc:HGNC:30281]
Coordinates
chr1:183897808-183902600:+
Coord C1 exon
chr1:183897808-183897897
Coord A exon
chr1:183900150-183900236
Coord C2 exon
chr1:183902568-183902600
Length
87 bp
Sequences
Splice sites
3' ss Seq
TTGCTTTGGATGCTCTTCAGGGT
3' ss Score
6.77
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GAAGGAACCTCAAAATTTGCAAACCTGGACAGCAGTGTGAAAGAAAACCAGAAGCGTACCCAGAGGCGGCTGCAGCTCCAGAAGGACATG
Seq A exon
GGTGTGATGCAGGGAACTGTGCCCTACCTGGGCACCTTCCTGACTGACCTGACCATGCTTGACACTGCCCTTCAGGACTACATCGAG
Seq C2 exon
GGTGGACTGATAAACTTTGAGAAAAGGAGAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143344_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.233 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0061714=RasGEF=FE(13.1=100)
A:
PF0061714=RasGEF=FE(12.6=100)
C2:
PF0061714=RasGEF=FE(4.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAACCTCAAAATTTGCAAACCTG
R:
CCTTCTCCTTTTCTCAAAGTTTATCA
Band lengths:
121-208
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development