HsaEX0051805 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174219125-174231355:+
Coord C1 exon
chr1:174219125-174219295
Coord A exon
chr1:174220972-174221164
Coord C2 exon
chr1:174231145-174231355
Length
193 bp
Sequences
Splice sites
3' ss Seq
TTGTCTTGCTGTGTCTGTAGATA
3' ss Score
8.59
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
GTGGTTGTGGGAAGAGAAGTTTGCAGAACTGAAATGGAGGTCAGAGCTTCATTACAGAAGGTTAGTGGATCATCTGATTCTGTGGCTACAATGAACAGTGAAGAATTTGTTTTGGTTCCTCAGTATGCAGATGATAATTCTACAAAACATGAAGAAAAACCTCAACTGAAG
Seq A exon
ATAGTTTCTAATGGTGATGAACAATTGGAAAAAGCCATGGAAGAGATTTTGAGAGATTCCGAGAAAAGGCCAAGCAGTCTTCTTGTTGATTGTCAAAGTTCCAGTGAGATTTCAGACCATTCGTTTGGAGATATTCCAGCCAGCCAAACAAATAAGCCATCTCTTCAGTTAATTTTGGATCCGTCTAACACAG
Seq C2 exon
AAATTTCTACACCCAGACCATCTTCTCCAGGTGGACTACCTGAAGAAGATAGTGTTTTATTTAATAAACTGACCTACTTAGGATGTATGAAGGTTTCTTCCCCACGTAATGAAGTAGAGGCTTTACGGGCAATGGCAACCATGAAATCTTCCAGTCAATACCCCTTTCCTGTTACCCTGTATGTACCAAATGTTCCAGAAGGTTCTGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'17-14,'17-11,22-14
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.894 A=0.822 C2=0.246
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0064018=PID=PU(38.4=67.6)
Main Skipping Isoform:
ENST00000251507fB5701
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGATCATCTGATTCTGTGGCT
R:
ATGGTTGCCATTGCCCGTAAA
Band lengths:
249-442
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