Special

HsaEX6063615 @ hg38

Exon Skipping

Gene
ENSG00000107263 | RAPGEF1
Description
Rap guanine nucleotide exchange factor 1 [Source:HGNC Symbol;Acc:HGNC:4568]
Coordinates
chr9:131587736-131588986:-
Coord C1 exon
chr9:131588801-131588986
Coord A exon
chr9:131587942-131588026
Coord C2 exon
chr9:131587736-131587830
Length
85 bp
Sequences
Splice sites
3' ss Seq
CTCACACCTCTGTCTTCCAGGCC
3' ss Score
9.8
5' ss Seq
GAGGTACAG
5' ss Score
6.62
Exon sequences
Seq C1 exon
CCTGGTGGAGTTGACAGAAGAGATCCTGAAGCTGCTGATGGAACTGGTCTTCCGCCTGGTGTGCAATGGGGAGCTGAGCCTGGCCCGTGTGCTCCGGAAGAACATCCTGGACAAGGTGGACCAGAAGAAGCTACTCAGGTGTGCCACCTCCAGCCAGCCCCTGGCAGCCCGGGGGGTAGCAGCCAG
Seq A exon
GCCGGGGACCTTGCACGACTTTCACAGCCATGAGATAGCGGAGCAGCTAACGCTGCTGGATGCTGAGCTCTTCTATAAAATAGAG
Seq C2 exon
ATTCCTGAGGTTTTGCTTTGGGCAAAAGAGCAGAATGAGGAGAAGAGCCCCAACTTGACCCAGTTCACGGAGCACTTCAACAACATGTCCTACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000107263-'79-67,'79-66,81-67
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.094
Domain overlap (PFAM):

C1:
PF0061815=RasGEF_N=PD(20.0=31.7)
A:
PF0061714=RasGEF=PU(12.9=79.3)
C2:
PF0061714=RasGEF=FE(17.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCTCCGGAAGAACATCCTG
R:
TTGAAGTGCTCCGTGAACTGG
Band lengths:
178-263
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains