Special

HsaEX0016162 @ hg38

Exon Skipping

Gene
ENSG00000082438 | COBLL1
Description
cordon-bleu WH2 repeat protein like 1 [Source:HGNC Symbol;Acc:HGNC:23571]
Coordinates
chr2:164727969-164743875:-
Coord C1 exon
chr2:164743687-164743875
Coord A exon
chr2:164729914-164730115
Coord C2 exon
chr2:164727969-164728197
Length
202 bp
Sequences
Splice sites
3' ss Seq
GAAATACTCTTGTTTTACAGTAA
3' ss Score
6.01
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
GAGAAAACCAAAAGCCAAGGCACCACTTCCTCCAGCTGAGACCAAATATACTGATGTCTCTTCAGCTGCTGATTCTGTAGAATCCACTGCTTTCATCATGGAACAGAAAGAAAACATGATAGATAAAGACGTTGAACTCTCAGTGGTCCTACCTGGGGATATTATCAAATCTACTACTGTTCATGGCAG
Seq A exon
TAAACCTATGATGGACTTGTTGATATTCCTTTGTGCACAGTATCACTTAAATCCATCAAGTTACACAATCGATCTGTTGTCAGCTGAACAGAACCACATTAAATTTAAGCCAAACACACCAATAGGAATGTTGGAGGTAGAGAAGGTAATTTTAAAGCCAAAAATGTTGGATAAGAAAAAACCTACACCTATAATACCAGAG
Seq C2 exon
AAAACTGTGAGAGTAGTGATTAATTTTAAGAAAACACAGAAGACCATAGTGAGAGTGAGTCCACATGCATCGCTTCAAGAGCTTGCCCCTATTATATGTAGCAAATGTGAGTTTGATCCGTTGCATACACTATTGTTGAAAGATTATCAATCGCAGGAGCCTCTTGACTTGACAAAATCTCTTAATGACCTGGGACTAAGAGAATTATATGCGATGGATGTCAACAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082438-'41-38,'41-37,48-38
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.352 A=0.006 C2=0.002
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF094695=Cobl=PU(59.5=61.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGATGTCTCTTCAGCTGCTG
R:
GTCAAGAGGCTCCTGCGATTG
Band lengths:
308-510
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