Special

HsaEX0052277 @ hg19

Exon Skipping

Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor (GEF) 4 [Source:HGNC Symbol;Acc:16626]
Coordinates
chr2:173898642-173913382:+
Coord C1 exon
chr2:173898642-173898692
Coord A exon
chr2:173900853-173900940
Coord C2 exon
chr2:173913328-173913382
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_MULTIEX2-1/3=C1-3
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=0.039
Domain overlap (PFAM):

C1:
PF0061714=RasGEF=FE(8.7=100),PF091755=DUF1944=FE(14.4=100)
A:
PF0061714=RasGEF=FE(15.8=100),PF091755=DUF1944=PD(11.7=43.3)
C2:
PF0061714=RasGEF=FE(10.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
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