HsaEX0051811 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174304986-174394145:+
Coord C1 exon
chr1:174304986-174305127
Coord A exon
chr1:174370979-174371072
Coord C2 exon
chr1:174393995-174394145
Length
94 bp
Sequences
Splice sites
3' ss Seq
TTTTTGCGTTTCTTCTGCAGAGA
3' ss Score
10.85
5' ss Seq
ATGGTAAAA
5' ss Score
4.79
Exon sequences
Seq C1 exon
TCTGAGGGAAAAGGCCATACCAATGCTGGAGATGCAATATATGAGGTGGTGAGTCTACAGCGAGAGTCTGACAAGGAGGAACCAGTCACTCCTACTAGTGGAGGGGGTCCAATGTCACCCCAGGATGATGAAGCAGAAGAGG
Seq A exon
AGAGTGATAATGAACTCTCAAGTGGAACAGGTGATGTGTCTAAGGATTGTCCTGAGAAGATCCTGTATTCTTGGGGAGAGTTGCTAGGAAAATG
Seq C2 exon
GCACAGTAACCTTGGTGCACGACCGAAAGGGCTGTCTACTCTGGTGAAGAGTGGTGTCCCTGAAGCATTGAGGGCAGAGGTATGGCAGTTATTGGCAGGCTGCCATGACAACCAGGCAATGCTGGATAGATACCGAATTCTTATCACAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'55-49,'55-47,60-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.601 A=0.370 C2=0.016
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0056613=RabGAP-TBC=PU(14.2=56.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGGTGAGTCTACAGCGAGA
R:
CTCTGCCCTCAATGCTTCAGG
Band lengths:
177-271
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