Special

HsaEX0051803 @ hg19

Exon Skipping

Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1-like [Source:HGNC Symbol;Acc:24663]
Coordinates
chr1:174780970-174926686:+
Coord C1 exon
chr1:174780970-174781098
Coord A exon
chr1:174846530-174846743
Coord C2 exon
chr1:174926594-174926686
Length
214 bp
Sequences
Splice sites
3' ss Seq
CTCCACCCCCTCGAACTCAGGTG
3' ss Score
5.5
5' ss Seq
ATGGTAGGT
5' ss Score
8.6
Exon sequences
Seq C1 exon
ACCTCAAAGGAAGACCTTCTGCAGGCTGATTTTGAAGGTGCTTTAAAGTTCTTTAGAGTTCAGCTTCCAAAGAGATACAGGGCAGAGGAAAATGCAAGAAGACTGATGGAGCAGGCTTGCAATATTAAA
Seq A exon
GTGGGTGTGTACACTGGCACTGAGCTGCAGTAGGATTTTTCCTTGGATAGTCTGGTCTGGAGCTGGGACAGCAGCTGCTGCTGTGGAAAGGCCAGCTGGCAAGATGATGGAAGAAATCTCCATTATGGTAGCCTATGACGCCCATGTTTTCAGCCAGCTGCACGATGAAGACTTCCTCACTAGTCTGGTGGCCATCAGCAAGCCCAGGTCTATG
Seq C2 exon
GTACCAACCAAGAAGCTGAAGAAATATGAGAAAGAATATCAGACAATGCGAGAGAGTCAGCTGCAACAGGAAGACCCAATGGATAGATACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'39-48,'39-45,42-48
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.009 A=0.000 C2=0.248
Domain overlap (PFAM):

C1:
PF0056613=RabGAP-TBC=PD(11.8=14.0)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TTCTGCAGGCTGATTTTGAAGGT
R:
TGTATCTATCCATTGGGTCTTCCTGT
Band lengths:
204-418
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development