Special

HsaEX6066159 @ hg38

Exon Skipping

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:16629]
Coordinates
chr12:47734367-47738247:-
Coord C1 exon
chr12:47738193-47738247
Coord A exon
chr12:47738022-47738093
Coord C2 exon
chr12:47734367-47737685
Length
72 bp
Sequences
Splice sites
3' ss Seq
ACCCCTCCCCACCCCCGCAGTGC
3' ss Score
10.09
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
AGAATGATGGCCAGAGCCGCGCGGATGCTGCACCACTGCCGAAGCCACAACCCTG
Seq A exon
TGCCTCTCTCACCACTCAGAAGCCGAGTTTCCCACCTCCACGAGGACAGCCAGGTGGCGAGGATTTCCACAT
Seq C2 exon
GCTCGGAGCAGTCCCTGAGCACCCGGAGTCCAGCCAGCACCTGGGCTTATGTCCAGCAGCTGAAGGTCATTGACAACCAGCGGGAACTCTCCCGCCTCTCCCGAGAGCTGGAGCCATGAGGAGGGGCTGGGACTGGAGCTGGAGCAGGCACTTGCAGCCGGGAAAGCCAGGGTGTGCCGGGCCAAGATACTCACAGGCTGGCCACAGCTGGGCAAGGCTCTCCGTGGAGTGGACTCGAGTCCCTGGAGCAGGCAGTGTGGAGGCAGCCATCCCCTGTGATGACTGGCAGCTAAGGAGGACCTCGGAGTGGACCCGAGCCAGGAATAACGAATGACCCAAGGCCAAGGAAGGGAGGACAGAGAGGCCCCAGGAGTGGGTGGAGAGTGGAGTGCGCTGGGACGTTGTGTGCAATAGAGAGGTCTCCACACCAGATGTCTTCCAGATTCTGTGCCTCTGGCTTTGTTGTCCAGCCAGGCCTGCAGTTTATTTTCACAGTGGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337-'46-68,'46-67,47-68=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.009 A=0.200 C2=0.205
Domain overlap (PFAM):

C1:
PF0061714=RasGEF=PD(0.5=5.3)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTGCCGAAGCCACAACC
R:
CAAGTGCCTGCTCCAGCTC
Band lengths:
176-248
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains