HsaEX0052247 @ hg38
Exon Skipping
Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131627913-131629254:-
Coord C1 exon
chr9:131629102-131629254
Coord A exon
chr9:131628549-131628672
Coord C2 exon
chr9:131627913-131628096
Length
124 bp
Sequences
Splice sites
3' ss Seq
GACGTTTCGGTCTGTTTCAGTCC
3' ss Score
8.91
5' ss Seq
CAGGTAATG
5' ss Score
9.43
Exon sequences
Seq C1 exon
CCCAGCAGAGCTCCCCCTGACAGACCGCGAGGTAGAGATCCTAAACAAGACGACTGGGATGTCACAGTCAACTGAGCTCCTCCCAGATGCCACGGATGAAGAGGTCGCGCCCCCCAAGCCTCCTCTGCCTGGCATTCGGGTGGTTGATAATAG
Seq A exon
TCCTCCACCAGCATTGCCACCCAAGAAAAGACAGTCGGCGCCGTCCCCTACCCGAGTGGCTGTGGTGGCCCCCATGAGCCGAGCCACCAGTGGCTCCAGTTTGCCTGTTGGAATCAATAGGCAG
Seq C2 exon
GATTTTGATGTTGACTGTTACGCACAGAGGCGACTGTCAGGAGGCAGCCACTCATATGGTGGAGAGTCGCCCCGCCTCTCCCCCTGCAGCAGCATAGGCAAGCTCAGCAAGTCAGACGAGCAGCTGTCCTCTCTGGACAGGGACAGTGGGCAGTGCTCCCGGAACACAAGCTGTGAAACACTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=0.908 C2=0.803
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCAACTGAGCTCCTCCCAGA
R:
CTTGTGTTCCGGGAGCACTG
Band lengths:
257-381
Functional annotations
There are 1 annotated functions for this event
PMID: 7735837
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: x-ray crystallography. ELM ID: ELMI001098; ELM sequence: PALPPK; Overlap: FULL
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development