Special

HsaEX0016163 @ hg38

Exon Skipping

Gene
ENSG00000082438 | COBLL1
Description
cordon-bleu WH2 repeat protein like 1 [Source:HGNC Symbol;Acc:HGNC:23571]
Coordinates
chr2:164704952-164730115:-
Coord C1 exon
chr2:164729914-164730115
Coord A exon
chr2:164727969-164728197
Coord C2 exon
chr2:164704952-164705105
Length
229 bp
Sequences
Splice sites
3' ss Seq
GGCTTTAATATGTGTTTCAGAAA
3' ss Score
6.46
5' ss Seq
GAGGTAAGT
5' ss Score
11.08
Exon sequences
Seq C1 exon
TAAACCTATGATGGACTTGTTGATATTCCTTTGTGCACAGTATCACTTAAATCCATCAAGTTACACAATCGATCTGTTGTCAGCTGAACAGAACCACATTAAATTTAAGCCAAACACACCAATAGGAATGTTGGAGGTAGAGAAGGTAATTTTAAAGCCAAAAATGTTGGATAAGAAAAAACCTACACCTATAATACCAGAG
Seq A exon
AAAACTGTGAGAGTAGTGATTAATTTTAAGAAAACACAGAAGACCATAGTGAGAGTGAGTCCACATGCATCGCTTCAAGAGCTTGCCCCTATTATATGTAGCAAATGTGAGTTTGATCCGTTGCATACACTATTGTTGAAAGATTATCAATCGCAGGAGCCTCTTGACTTGACAAAATCTCTTAATGACCTGGGACTAAGAGAATTATATGCGATGGATGTCAACAGAG
Seq C2 exon
AGTCCCTGTGAAGCAGGAAGAGTGAGGGCAGGTTCACTGCAGCTCAGCAGCATGTCTGCAGGGAATTCATCTTTGAGAAGGACAAAGCGAAAAGCACCTTCCCCACCCTCCAAAATACCCCCGCATCAAAGTGATGAAAATAGTCGTGTGACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000082438_MULTIEX1-6/10=5-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.006 A=0.002 C2=1.000
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTTTGTGCACAGTATCACT
R:
GATGCGGGGGTATTTTGGAGG
Band lengths:
303-532
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