Special

HsaEX0052275 @ hg38

Exon Skipping

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:172795025-172814425:+
Coord C1 exon
chr2:172795025-172795167
Coord A exon
chr2:172797525-172797613
Coord C2 exon
chr2:172814279-172814425
Length
89 bp
Sequences
Splice sites
3' ss Seq
TCACAATTTTTTTTTCCCAGTAT
3' ss Score
6.59
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
ACCACTGGAGCGATCCAGCGAAGATGTGGATATAATCTTCACTCGACTGAAAGAAGTTAAAGCTTTTGAGAAATTTCACCCAAATCTCCTTCATCAGATTTGCTTATGTGGTTATTATGAGAATCTGGAAAAGGGAATAACAT
Seq A exon
TATTTCGCCAGGGTGATATTGGAACAAACTGGTATGCTGTCCTGGCAGGGTCTTTGGATGTTAAAGTATCTGAGACCAGCAGTCACCAG
Seq C2 exon
GATGCTGTGACCATCTGTACCCTGGGAATTGGGACGGCCTTTGGAGAGTCCATTCTGGACAACACACCCCGCCATGCAACCATCGTTACCAGGGAGAGCAGTGAACTGCTCCGCATCGAGCAGAAGGACTTCAAGGCACTATGGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428_MULTIEX1-1/2=C1-C2
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=0.020
Domain overlap (PFAM):

C1:
PF0002724=cNMP_binding=PU(20.0=18.4)
A:
PF0002724=cNMP_binding=FE(31.5=100)
C2:
PF0002724=cNMP_binding=FE(52.2=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
ALTERNATIVE
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCGATCCAGCGAAGATGTG
R:
CTCCAAAGGCCGTCCCAATTC
Band lengths:
182-271
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development