Special

HsaEX0051804 @ hg19

Exon Skipping

Gene
ENSG00000152061 | RABGAP1L
Description
RAB GTPase activating protein 1-like [Source:HGNC Symbol;Acc:24663]
Coordinates
chr1:174188263-174190302:+
Coord C1 exon
chr1:174188263-174188433
Coord A exon
chr1:174189490-174189592
Coord C2 exon
chr1:174190110-174190302
Length
103 bp
Sequences
Splice sites
3' ss Seq
TAAGGTTATCTGATTTTTAGGGT
3' ss Score
6.4
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
GTGGTTGTGGGAAGAGAAGTTTGCAGAACTGAAATGGAGGTCAGAGCTTCATTACAGAAGGTTAGTGGATCATCTGATTCTGTGGCTACAATGAACAGTGAAGAATTTGTTTTGGTTCCTCAGTATGCAGATGATAATTCTACAAAACATGAAGAAAAACCTCAACTGAAG
Seq A exon
GGTGTGTTCCTAAAAAAGAAAAAGAAAAAGAAGGGCCAGGCGTGGTGGCTCATAGCCTGTACTCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATTGCTTGAG
Seq C2 exon
ATAGTTTCTAATGGTGATGAACAATTGGAAAAAGCCATGGAAGAGATTTTGAGAGATTCCGAGAAAAGGCCAAGCAGTCTTCTTGTTGATTGTCAAAGTTCCAGTGAGATTTCAGACCATTCGTTTGGAGATATTCCAGCCAGCCAAACAAATAAGCCATCTCTTCAGTTAATTTTGGATCCGTCTAACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152061-'4-6,'4-4,5-6
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.876 A=0.273 C2=0.805
Domain overlap (PFAM):

C1:
PF080307=NAD_binding_6=PU(56.4=95.7)
A:
PF080307=NAD_binding_6=PD(41.0=94.1)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTTGTGGGAAGAGAAGTTTGC
R:
AGACTGCTTGGCCTTTTCTCG
Band lengths:
249-352
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