HsaEX0052277 @ hg38
Exon Skipping
Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:173033914-173048654:+
Coord C1 exon
chr2:173033914-173033964
Coord A exon
chr2:173036125-173036212
Coord C2 exon
chr2:173048600-173048654
Length
88 bp
Sequences
Splice sites
3' ss Seq
ATCTCTTTTTCTCTCCTAAGGAC
3' ss Score
9.93
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
AAACTGCCAAGCAAGTTCAAGAAGTTCTATGCGGAGTTTGAAAGTTTAATG
Seq A exon
GACCCTTCAAGGAACCACAGGGCCTACAGGCTGACAGTAGCTAAGCTGGAACCTCCTCTCATCCCCTTCATGCCTTTGCTCATTAAAG
Seq C2 exon
CGCATGATTGCAAATACGGCCAGAACAGTGAGATACTACAGGAGCCAACCCTTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428_MULTIEX2-3/6=2-6
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.044
Domain overlap (PFAM):
C1:
PF0061714=RasGEF=FE(8.6=100)
A:
PF0061714=RasGEF=FE(15.7=100)
C2:
PF0061714=RasGEF=FE(10.7=100)
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:
ACTGCCAAGCAAGTTCAAGAAGT
R:
TGAAGGGTTGGCTCCTGTAGT
Band lengths:
104-192
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development