HsaEX6016762 @ hg38
Exon Skipping
Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:172985433-172988839:+
Coord C1 exon
chr2:172985433-172985493
Coord A exon
chr2:172988196-172988272
Coord C2 exon
chr2:172988693-172988839
Length
77 bp
Sequences
Splice sites
3' ss Seq
TTTCATCTTTTTGTGTCTAGTGT
3' ss Score
8.15
5' ss Seq
AAGGTATAT
5' ss Score
7.84
Exon sequences
Seq C1 exon
GTGAAACGAGAGTTAGCAGGTGTTCTCATTTTTGAGTCTCACGCCAAAGGAGGGACTGTGT
Seq A exon
TGTTTAACCAGGGGGAAGAAGGTACCTCCTGGTACATTATTCTAAAAGGATCAGTGAATGTAGTCATTTACGGCAAG
Seq C2 exon
GGTGTGGTCTGCACCCTGCATGAAGGAGATGACTTCGGCAAGTTAGCACTAGTGAATGATGCCCCACGAGCTGCCTCTATCGTCTTACGAGAAGATAACTGCCATTTCTTAAGAGTAGACAAGGAGGATTTCAACCGGATCCTAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428-'39-34,'39-33,42-34=AN
Average complexity
A_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=0.000
Domain overlap (PFAM):
C1:
PF0002724=cNMP_binding=PU(10.3=42.9)
A:
PF0002724=cNMP_binding=FE(28.7=100)
C2:
PF0002724=cNMP_binding=FE(55.2=100)
Main Skipping Isoform:
ENST00000397081fB24109
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGAGTCTCACGCCAAAGGAG
R:
AGGATCCGGTTGAAATCCTCCT
Band lengths:
173-250
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains