HsaEX0051798 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174278613-174371072:+
Coord C1 exon
chr1:174278613-174278779
Coord A exon
chr1:174304986-174305127
Coord C2 exon
chr1:174370979-174371072
Length
142 bp
Sequences
Splice sites
3' ss Seq
TACTGTTATATTTTTCTCAGTCT
3' ss Score
5.53
5' ss Seq
AGGGTAAGA
5' ss Score
9.21
Exon sequences
Seq C1 exon
ATAAGCAAGTATACATGACTGTGGCAGTGGATATGGTAGTCACAGAGGTGGTGGAGCCTGTTCGCTTTCTCCTGGAGACAGTAGTCCGTGTGTACCCTGCAAATGAGCGATTTTGGTATTTCAGCAGAAAGACTTTCACAGAGACTTTCTTCATGAGATTGAAACAG
Seq A exon
TCTGAGGGAAAAGGCCATACCAATGCTGGAGATGCAATATATGAGGTGGTGAGTCTACAGCGAGAGTCTGACAAGGAGGAACCAGTCACTCCTACTAGTGGAGGGGGTCCAATGTCACCCCAGGATGATGAAGCAGAAGAGG
Seq C2 exon
AGAGTGATAATGAACTCTCAAGTGGAACAGGTGATGTGTCTAAGGATTGTCCTGAGAAGATCCTGTATTCTTGGGGAGAGTTGCTAGGAAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061_MULTIEX4-8/10=7-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.601 C2=0.370
Domain overlap (PFAM):
C1:
PF124733=DUF3694=PD(27.1=64.3)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACTGTGGCAGTGGATATGG
R:
TTCCTAGCAACTCTCCCCAAGA
Band lengths:
242-384
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