Special

HsaEX0051807 @ hg19

Exon Skipping

Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1-like [Source:HGNC Symbol;Acc:24663]
Coordinates
chr1:174190110-174210795:+
Coord C1 exon
chr1:174190110-174190302
Coord A exon
chr1:174200283-174200493
Coord C2 exon
chr1:174210621-174210795
Length
211 bp
Sequences
Splice sites
3' ss Seq
TTCTTTTTTTGTTTCTTCAGAAA
3' ss Score
10.36
5' ss Seq
GAGGTAAGC
5' ss Score
9.85
Exon sequences
Seq C1 exon
ATAGTTTCTAATGGTGATGAACAATTGGAAAAAGCCATGGAAGAGATTTTGAGAGATTCCGAGAAAAGGCCAAGCAGTCTTCTTGTTGATTGTCAAAGTTCCAGTGAGATTTCAGACCATTCGTTTGGAGATATTCCAGCCAGCCAAACAAATAAGCCATCTCTTCAGTTAATTTTGGATCCGTCTAACACAG
Seq A exon
AAATTTCTACACCCAGACCATCTTCTCCAGGTGGACTACCTGAAGAAGATAGTGTTTTATTTAATAAACTGACCTACTTAGGATGTATGAAGGTTTCTTCCCCACGTAATGAAGTAGAGGCTTTACGGGCAATGGCAACCATGAAATCTTCCAGTCAATACCCCTTTCCTGTTACCCTGTATGTACCAAATGTTCCAGAAGGTTCTGTGAG
Seq C2 exon
AATTATAGACCAATCCAGCAATGTGGAGATAGCATCTTTTCCAATCTATAAGGTGTTATTCTGTGCACGTGGACATGACGGAACAACAGAGAGCAATTGCTTTGCATTTACAGAGAGTTCCCATGGTTCGGAAGAATTTCAGATACATGTTTTCTCCTGTGAAATTAAAGAGGCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.805 A=0.239 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0064018=PID=PU(38.4=67.6)
C2:
PF0064018=PID=FE(46.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAAAAAGCCATGGAAGAGA
R:
TCCGAACCATGGGAACTCTCT
Band lengths:
300-511
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