Special

HsaEX0052379 @ hg19

Exon Skipping

Gene
ENSG00000170667 | RASA4B
Description
RAS p21 protein activator 4B [Source:HGNC Symbol;Acc:35202]
Coordinates
chr7:102128910-102131570:-
Coord C1 exon
chr7:102131433-102131570
Coord A exon
chr7:102129509-102129720
Coord C2 exon
chr7:102128910-102129045
Length
212 bp
Sequences
Splice sites
3' ss Seq
CTCTGTGCCCTTCCCTCTAGGAG
3' ss Score
12.39
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
Exon sequences
Seq C1 exon
AAAAGCGCCCTCATCAAGTTAGCCAACATCCGGGCAGCGGAAAAGGTTGAGGAAAAGAGCTTTGGCGGCTCGCACGTCATGCAGGTCATCTACACGGACGACGCCGGCAGGCCCCAGACTGCCTACCTGCAGTGCAAG
Seq A exon
GAGTTCCCTTTTGTGTCAGGGTCCAGAGCCACTGGGAAAAGTAGTGATATCAGGGCCACCAAATATATTTGGCGGGTTCTGGAATACCTACGAGCGTGGCCAAGGGGCCAGCGGCGGCTGAAATCCAGCCCACACCAGCCTCCTGGGCTCCTACCATCCCGGTGCCTTCCGTGGGGACAAGTGGAGCTGCTGCCACCAAAAAGACGAGACAG
Seq C2 exon
TGTGTGAATGAGCTTAACCAGTGGCTGTCTGCGCTGCGGAAGGTGAGCATCAACAACACCGGACTGCTGGGCTCCTACCACCCTGGCGTCTTCCGTGGGGACAAGTGGAGCTGCTGCCACCAAAAAGAGAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000170667_MULTIEX2-2/2=1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.141 C2=0.003
Domain overlap (PFAM):

C1:
PF0016924=PH=FE(42.5=100)
A:
NO
C2:
PF0016924=PH=PD(14.2=32.6),PF0077914=BTK=PU(68.8=47.8)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGCGCCCTCATCAAGTTAGC
R:
TCTTCTCTTTTTGGTGGCAGCA
Band lengths:
269-481
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development