Special

HsaEX0052266 @ hg38

Exon Skipping

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47740305-47741040:-
Coord C1 exon
chr12:47740915-47741040
Coord A exon
chr12:47740642-47740823
Coord C2 exon
chr12:47740305-47740395
Length
182 bp
Sequences
Splice sites
3' ss Seq
CTCCTGCTGACCCCACCCAGGTG
3' ss Score
6.48
5' ss Seq
CCAGTGAGT
5' ss Score
8.28
Exon sequences
Seq C1 exon
ATCCCACACCCTGACCAGCTGGGGCCCACTGTGGGCTCTGCTGAGGGGCTGGACCTGGTGAGTGCCAAGGACCTGGCAGGCCAGCTGACGGACCACGACTGGAGCCTCTTCAACAGTATCCACCAG
Seq A exon
GTGGAGCTGATCCACTATGTGCTGGGCCCCCAGCATCTGCGGGATGTCACCACCGCCAACCTGGAGCGCTTCATGCGCCGCTTCAATGAGCTGCAGTACTGGGTGGCCACCGAGCTGTGTCTCTGCCCCGTGCCCGGCCCCCGGGCCCAGCTGCTCAGGAAGTTCATTAAGCTGGCGGCCCA
Seq C2 exon
CCTCAAGGAGCAGAAGAATCTCAATTCCTTCTTTGCCGTCATGTTTGGCCTCAGCAACTCGGCCATCAGCCGCCTAGCCCACACCTGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.142 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0061714=RasGEF=PU(12.9=57.1)
A:
PF0061714=RasGEF=FE(69.0=100),PF0061714=RasGEF=PU(0.1=0.0)
C2:
PF0061714=RasGEF=PD(1.1=7.7),PF0061714=RasGEF=PU(14.5=92.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCCACACCCTGACCAGC
R:
CAGGTGTGGGCTAGGCGG
Band lengths:
213-395
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