Special

HsaEX6016752 @ hg38

Exon Skipping

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:173020618-173027259:+
Coord C1 exon
chr2:173020618-173020715
Coord A exon
chr2:173026572-173026697
Coord C2 exon
chr2:173027081-173027259
Length
126 bp
Sequences
Splice sites
3' ss Seq
TTTTGCATTATTATTCATAGACT
3' ss Score
5.65
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
AAAAGGTGGTGCTCAAACCTAATGATGTTTCAGTATTTACGACGCTCACCATTAATGGACGCCTGTTTGCTTGCCCGCGAGAGCAATTCGATTCACTG
Seq A exon
ACTCCCTTACCAGAACAGGAAGGCCCAACTGTTGGAACAGTGGGAACTTTTGAACTGATGAGCTCCAAAGATTTAGCATACCAGATGACAATTTATGATTGGGAACTCTTCAACTGCGTGCATGAG
Seq C2 exon
CTGGAGCTAATCTATCACACATTTGGAAGGCATAATTTTAAAAAGACCACAGCAAACTTGGATTTGTTCCTGAGGAGATTTAATGAAATTCAGTTTTGGGTCGTCACTGAGATCTGCCTTTGTTCTCAGCTCAGCAAGCGTGTTCAGCTATTAAAAAAATTTATTAAGATAGCAGCCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428-'57-53,'57-51,59-53
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.023 C2=0.000
Domain overlap (PFAM):

C1:
PF0078818=RA=PD(35.0=84.8)
A:
PF0061714=RasGEF=PU(13.0=57.1)
C2:
PF0061714=RasGEF=FE(31.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGTGGTGCTCAAACCTAATGA
R:
TAGCTGAACACGCTTGCTGAG
Band lengths:
245-371
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains