HsaEX0052297 @ hg38
Exon Skipping
Gene
ENSG00000108352 | RAPGEFL1
Description
Rap guanine nucleotide exchange factor like 1 [Source:HGNC Symbol;Acc:HGNC:17428]
Coordinates
chr17:40178262-40181694:+
Coord C1 exon
chr17:40178262-40178381
Coord A exon
chr17:40181299-40181373
Coord C2 exon
chr17:40181616-40181694
Length
75 bp
Sequences
Splice sites
3' ss Seq
TGGGCTACTTCTTTTTTCAGGCA
3' ss Score
8.05
5' ss Seq
AAGGCACGC
5' ss Score
2.65
Exon sequences
Seq C1 exon
GCGAGCCCTTGACTTCGCCGCCCTGGGCCCCTCTGGGCGCCCCCGAGCGGCCCGAGCATCTTCTGAACCGGGTTCTGGAGCGGCTTGCTGGAGGGGCTACCAGGGACAGCGCCGCCTCAG
Seq A exon
GCAGAACTCAACCTTGGTGTGTTATCTGACCAACTTCCCACATACGCTGAAGAGAAGTGCACATGGCCATCAAAG
Seq C2 exon
ATATCCTGCTGGATGACATTGTCCTTACCCATTCTCTCTTCCTCCCGACGGAGAAATTTCTGCAGGAGCTACACCAGTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000108352-'5-6,'5-5,7-6=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. ATG)
Show structural model
Features
Disorder rate (Iupred):
C1=0.935 A=0.429 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTGACTTCGCCGCCCTG
R:
TGCAGAAATTTCTCCGTCGGG
Band lengths:
177-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development