Special

HsaEX6062922 @ hg19

Exon Skipping

Gene
ENSG00000011454 | RABGAP1
Description
RAB GTPase activating protein 1 [Source:HGNC Symbol;Acc:17155]
Coordinates
chr9:125746764-125751750:+
Coord C1 exon
chr9:125746764-125746998
Coord A exon
chr9:125748494-125748698
Coord C2 exon
chr9:125751576-125751750
Length
205 bp
Sequences
Splice sites
3' ss Seq
TTATTCATTGTTTCTTTCAGATT
3' ss Score
11.18
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
Exon sequences
Seq C1 exon
ATTGTAGGGAATGGAAGTGAACAGCAGCTGCAAAAAGAGCTAGCAGATGTACTGATGGATCCTCCAATGGACGACCAGCCAGGGGAAAAGGAGCTTGTGAAAAGGTCACAACTGGATGGTGAAGGAGATGGGCCTCTTTCTAATCAGCTCTCCGCTTCATCCACCATTAACCCTGTGCCATTAGTAGGGCTCCAAAAACCAGAGATGAGCCTACCAGTGAAACCTGGACAAGGAG
Seq A exon
ATTCTGAAGCTTCAAGTCCTTTCACACCAGTGGCCGATGAGGACAGCGTAGTTTTCAGTAAACTGACTTACTTAGGCTGTGCCTCGGTAAATGCTCCCAGGAGTGAAGTGGAAGCCTTAAGGATGATGTCCATCTTAAGAAGCCAGTGTCAGATTTCACTAGATGTTACCCTTTCAGTGCCGAATGTGTCTGAAGGAATTGTGAG
Seq C2 exon
ACTCTTAGATCCTCAGACAAACACTGAAATAGCAAACTACCCTATCTACAAAATCCTCTTCTGTGTCAGAGGGCATGATGGAACTCCTGAGAGTGACTGTTTTGCTTTCACTGAAAGTCATTACAATGCAGAGCTCTTCAGAATACACGTCTTCCGGTGTGAAATACAAGAAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000011454-'10-14,'10-12,12-14=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.874 A=0.144 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0064018=PID=PU(41.7=69.6)
C2:
PF0064018=PID=PD(57.4=94.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCAGCTGCAAAAAGAGCTAGC
R:
TCAGGAGTTCCATCATGCCCT
Band lengths:
302-507
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains