HsaEX6066145 @ hg38
Exon Skipping
Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47749930-47751216:-
Coord C1 exon
chr12:47751048-47751216
Coord A exon
chr12:47750341-47750425
Coord C2 exon
chr12:47749930-47749990
Length
85 bp
Sequences
Splice sites
3' ss Seq
CATTCCTCCTGTCCCTGCAGCCC
3' ss Score
11.27
5' ss Seq
TCGGTCAGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
TGAAACACGACTGGGCCTTCCAGGACCGAGATGCCCAATTCTACCGGTTCCCCGGGCCCGAGCCCGAGCCCGTGAGAACTCATGAGATGGAGGAGGAGTTGGCCGAAGCTGTGGCCCTGCTCTCCCAGCGGGGGCCTGACGCCCTGCTCACTGTGGCACTTCGAAAGCC
Seq A exon
CCCAGGTCAGCGCACGGATGAAGAGCTGGACCTCATCTTTGAGGAGCTGCTGCACATCAAGGCTGTGGCCCACCTCTCCAACTCG
Seq C2 exon
GTGAAGCGAGAATTAGCGGCTGTTCTGCTCTTTGAACCACACAGCAAGGCAGGGACCGTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337-'12-28,'12-24,13-28=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.270 A=0.003 C2=0.009
Domain overlap (PFAM):
C1:
PF0061016=DEP=PD(22.5=28.1)
A:
NO
C2:
PF0002724=cNMP_binding=PU(8.2=33.3)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGACCGAGATGCCCAATTC
R:
CAAAGAGCAGAACAGCCGCTA
Band lengths:
183-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains