Special

HsaEX0051805 @ hg19

Exon Skipping

Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1-like [Source:HGNC Symbol;Acc:24663]
Coordinates
chr1:174188263-174200493:+
Coord C1 exon
chr1:174188263-174188433
Coord A exon
chr1:174190110-174190302
Coord C2 exon
chr1:174200283-174200493
Length
193 bp
Sequences
Splice sites
3' ss Seq
TTGTCTTGCTGTGTCTGTAGATA
3' ss Score
8.59
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
GTGGTTGTGGGAAGAGAAGTTTGCAGAACTGAAATGGAGGTCAGAGCTTCATTACAGAAGGTTAGTGGATCATCTGATTCTGTGGCTACAATGAACAGTGAAGAATTTGTTTTGGTTCCTCAGTATGCAGATGATAATTCTACAAAACATGAAGAAAAACCTCAACTGAAG
Seq A exon
ATAGTTTCTAATGGTGATGAACAATTGGAAAAAGCCATGGAAGAGATTTTGAGAGATTCCGAGAAAAGGCCAAGCAGTCTTCTTGTTGATTGTCAAAGTTCCAGTGAGATTTCAGACCATTCGTTTGGAGATATTCCAGCCAGCCAAACAAATAAGCCATCTCTTCAGTTAATTTTGGATCCGTCTAACACAG
Seq C2 exon
AAATTTCTACACCCAGACCATCTTCTCCAGGTGGACTACCTGAAGAAGATAGTGTTTTATTTAATAAACTGACCTACTTAGGATGTATGAAGGTTTCTTCCCCACGTAATGAAGTAGAGGCTTTACGGGCAATGGCAACCATGAAATCTTCCAGTCAATACCCCTTTCCTGTTACCCTGTATGTACCAAATGTTCCAGAAGGTTCTGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'4-7,'4-6,6-7
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.876 A=0.805 C2=0.239
Domain overlap (PFAM):

C1:
PF080307=NAD_binding_6=PU(56.4=95.7)
A:
NO
C2:
PF0064018=PID=PU(38.4=67.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGATCATCTGATTCTGTGGCT
R:
ATGGTTGCCATTGCCCGTAAA
Band lengths:
249-442
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