Special

HsaEX0016938 @ hg19

Exon Skipping

Gene
ENSG00000160111 | CPAMD8
Description
C3 and PZP-like, alpha-2-macroglobulin domain containing 8 [Source:HGNC Symbol;Acc:23228]
Coordinates
chr19:17010286-17013673:-
Coord C1 exon
chr19:17013459-17013673
Coord A exon
chr19:17012020-17012107
Coord C2 exon
chr19:17010286-17010360
Length
88 bp
Sequences
Splice sites
3' ss Seq
CTCTCCCCTGTTGTTGGAAGGTG
3' ss Score
5.83
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
ATTGATGTCACCTACAATGTGCCTGACCCGGTGGCCAAGCCAGCTTTCCAGCTGCTCGTAAGCCTCCAGGAGCCTGAGGCCCAGGGACGCCCGCCCCCCATGCCTGCCTCCGCAGCTGAGGGTTCCCGAGGAGACTGGCCCCCAGCTGACGATGATGACCCAGCGGCCGATCAGCATCACCAGGAATACAAGGTGATGCTGGAGGTGTGCACCAG
Seq A exon
GTGGCTGCATGCAGGGTCTTCCAATATGGCTGTCCTGGAGGTGCCCCTGCTGTCAGGCTTCCGGGCAGACATCGAGAGCCTGGAGCAG
Seq C2 exon
CTGCTCCTTGACAAGCACATGGGGATGAAGAGGTATGAAGTGGCTGGACGCCGAGTGCTCTTCTACTTTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160111_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show structural model
Features
Disorder rate (Iupred):
  C1=0.498 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF076779=A2M_recep=PU(24.2=73.3)
C2:
PF076779=A2M_recep=PU(35.3=92.3)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTAAGCCTCCAGGAGCCTGAG
R:
CCATGTGCTTGTCAAGGAGCA
Band lengths:
180-268
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