Special

HsaEX6066149 @ hg19

Exon Skipping

Gene
ENSG00000079337 | RAPGEF3
Description
Rap guanine nucleotide exchange factor (GEF) 3 [Source:HGNC Symbol;Acc:16629]
Coordinates
chr12:48142237-48143319:-
Coord C1 exon
chr12:48143173-48143319
Coord A exon
chr12:48142602-48142714
Coord C2 exon
chr12:48142237-48142325
Length
113 bp
Sequences
Splice sites
3' ss Seq
GGATGTGGCCTGTTCTCCAGGAT
3' ss Score
5.9
5' ss Seq
CCGGTAATA
5' ss Score
5.56
Exon sequences
Seq C1 exon
GGGCTGGTGACCACCCTGCATGAGGGAGATGATTTTGGACAGCTGGCTCTGGTGAATGATGCACCCCGGGCAGCCACCATCATCCTGCGAGAAGACAACTGTCATTTCCTGCGTGTGGACAAGCAGGACTTCAACCGTATCATCAAG
Seq A exon
GATGTGGAGGCAAAGACCATGCGGCTGGAAGAACATGGCAAAGTGGTGCTGGTGCTGGAGAGAGCCTCTCAGGGCGCCGGCCCTTCCCGACCCCCAACCCCAGGCAGGAACCG
Seq C2 exon
GTATACAGTGATGTCTGGCACCCCAGAGAAGATCCTAGAGCTTCTGTTGGAGGCCATGGGACCAGATTCCAGTGCTCATGACCCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000079337-'12-16,'12-14,13-16=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=0.000 A=0.474 C2=0.161
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=FE(56.5=100)
A:
PF0002724=cNMP_binding=PD(2.4=5.3)
C2:
PF0061815=RasGEF_N=PU(25.5=90.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACCACCCTGCATGAGG
R:
CTGTTGGGTCATGAGCACTGG
Band lengths:
230-343
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains