HsaEX0051813 @ hg38
Exon Skipping
Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1 like [Source:HGNC Symbol;Acc:HGNC:24663]
Coordinates
chr1:174702113-174811960:+
Coord C1 exon
chr1:174702113-174702256
Coord A exon
chr1:174752313-174752354
Coord C2 exon
chr1:174811832-174811960
Length
42 bp
Sequences
Splice sites
3' ss Seq
ACTTTCTTTTTCTATTTCAGGGT
3' ss Score
13.27
5' ss Seq
AAGGTAAGT
5' ss Score
11
Exon sequences
Seq C1 exon
GAACAGCTACCGGACCTGCATAGCCATTTTTCTGATCTGAACCTGGAAGCTCATATGTATGCATCCCAGTGGTTTCTCACTCTTTTTACTGCCAAGTTCCCACTCTGCATGGTGTTCCACATCATTGACTTACTGCTTTGTGAG
Seq A exon
GGTTTGAACATAATCTTTCATGTAGCTTTGGCTCTCCTAAAG
Seq C2 exon
ACCTCAAAGGAAGACCTTCTGCAGGCTGATTTTGAAGGTGCTTTAAAGTTCTTTAGAGTTCAGCTTCCAAAGAGATACAGGGCAGAGGAAAATGCAAGAAGACTGATGGAGCAGGCTTGCAATATTAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061_MULTIEX3-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.009
Domain overlap (PFAM):
C1:
PF0056613=RabGAP-TBC=PU(56.9=96.7)
A:
PF0056613=RabGAP-TBC=FE(25.5=100)
C2:
PF0056613=RabGAP-TBC=PD(11.8=14.0)
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTCCCACTCTGCATGGTGTT
R:
TTGCATTTTCCTCTGCCCTGT
Band lengths:
146-188
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