Special

HsaEX0051811 @ hg19

Exon Skipping

Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1-like [Source:HGNC Symbol;Acc:24663]
Coordinates
chr1:174274124-174363283:+
Coord C1 exon
chr1:174274124-174274265
Coord A exon
chr1:174340117-174340210
Coord C2 exon
chr1:174363133-174363283
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_MULTIEX1-2/3=1-3
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=0.010
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0056613=RabGAP-TBC=PU(14.2=56.9)


Main Inclusion Isoform:


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