HsaEX0052279 @ hg38
Exon Skipping
Gene
ENSG00000091428 | RAPGEF4
Description
Rap guanine nucleotide exchange factor 4 [Source:HGNC Symbol;Acc:HGNC:16626]
Coordinates
chr2:173036628-173052887:+
Coord C1 exon
chr2:173036628-173036692
Coord A exon
chr2:173048600-173048654
Coord C2 exon
chr2:173051640-173052887
Length
55 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTATATTCCTTTTAGCGC
3' ss Score
9.65
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
ATATGACATTTACTCATGAGGGGAACAAGACGTTCATTGACAATCTAGTAAACTTTGAAAAAATG
Seq A exon
CGCATGATTGCAAATACGGCCAGAACAGTGAGATACTACAGGAGCCAACCCTTCA
Seq C2 exon
ATCCTGATGCAGCTCAAGCTAATAAGAACCATCAGGATGTCCGGAGTTATGTACGGCAATTAAATGTGATTGACAACCAGAGAACTTTATCACAGATGTCACACAGATTAGAGCCTCGTCGACCATAGACATTTCAAATGCCCAAAGCAACAGTTTGTCTCCAGTCCACAATCTTTCAAAAATGCCATTTATGCTACTACTGACTGTATTGCCACTAGAGAATTCTACAAAACAAGCAAAAACACATCCTGAGACACCTCAGGGCTGCATTCAGCTTACCAGCTACCTAGCAAGAGAAGGAATTATTTGACATGCCTAAAGCTTACACACTCTAGCTTAGGAATCCCCAGTTTGTGGCTACCCTGTTTCATTTCCACTTGTGCCATCTTCTTTGCTGAAGTGTTGAATAAGGCCCACGTGAAGAGTTTGGTAGAAATAGCCTTGTCAAGAGAACTAGCAAGCCCCTGACATTTTTTTCTAAGAGTGTTTATGGGATGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000091428_MULTIEX2-6/6=4-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.044 C2=0.621
Domain overlap (PFAM):
C1:
PF0061714=RasGEF=PD(12.5=82.1)
A:
PF0061714=RasGEF=FE(10.7=100)
C2:
PF0061714=RasGEF=PD(20.2=79.1)
Main Skipping Isoform:
ENST00000397081fB24112
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:
CTCATGAGGGGAACAAGACGT
R:
AGTTCTCTGGTTGTCAATCACA
Band lengths:
139-194
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