HsaEX0051807 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174220972-174241657:+
Coord C1 exon
chr1:174220972-174221164
Coord A exon
chr1:174231145-174231355
Coord C2 exon
chr1:174241483-174241657
Length
211 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTTTTGTTTCTTCAGAAA
3' ss Score
10.36
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
Exon sequences
Seq C1 exon
ATAGTTTCTAATGGTGATGAACAATTGGAAAAAGCCATGGAAGAGATTTTGAGAGATTCCGAGAAAAGGCCAAGCAGTCTTCTTGTTGATTGTCAAAGTTCCAGTGAGATTTCAGACCATTCGTTTGGAGATATTCCAGCCAGCCAAACAAATAAGCCATCTCTTCAGTTAATTTTGGATCCGTCTAACACAG
Seq A exon
AAATTTCTACACCCAGACCATCTTCTCCAGGTGGACTACCTGAAGAAGATAGTGTTTTATTTAATAAACTGACCTACTTAGGATGTATGAAGGTTTCTTCCCCACGTAATGAAGTAGAGGCTTTACGGGCAATGGCAACCATGAAATCTTCCAGTCAATACCCCTTTCCTGTTACCCTGTATGTACCAAATGTTCCAGAAGGTTCTGTGAG
Seq C2 exon
AATTATAGACCAATCCAGCAATGTGGAGATAGCATCTTTTCCAATCTATAAGGTGTTATTCTGTGCACGTGGACATGACGGAACAACAGAGAGCAATTGCTTTGCATTTACAGAGAGTTCCCATGGTTCGGAAGAATTTCAGATACATGTTTTCTCCTGTGAAATTAAAGAGGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.822 A=0.246 C2=0.005
Domain overlap (PFAM):
C1:
NO
A:
PF0064018=PID=PU(38.4=67.6)
C2:
PF0064018=PID=FE(46.4=100)
Main Skipping Isoform:
ENST00000251507fB23985
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAAAAAGCCATGGAAGAGA
R:
TCCGAACCATGGGAACTCTCT
Band lengths:
300-511
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