HsaEX0038306 @ hg19
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6312664-6338397:+
Coord C1 exon
chr8:6312664-6312773
Coord A exon
chr8:6335115-6335152
Coord C2 exon
chr8:6338235-6338397
Length
38 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTTTGAAATCTCTAGCCA
3' ss Score
4.27
5' ss Seq
TGAGTAAGT
5' ss Score
8.82
Exon sequences
Seq C1 exon
GTGTTAAAAATAGACCAACAAGGCATGATGTTTTAGATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGTGGGAGAGGCAAAAAG
Seq A exon
CCAACAAGAACATTAGTCATGACAAGCATGCCATCTGA
Seq C2 exon
AAAGCAGAATGTCGTCATCCAGGTTGTGGATAAATTGAAAGGCTTTTCAATTGCACCAGACGTCTGTGAGACCACGACTCACGTGCTTTCCGGGAAGCCACTTCGCACCCTGAATGTGCTGCTGGGAATTGCGCGTGGCTGCTGGGTTCTCTCTTATGATTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316-'11-15,'11-14,17-15
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.568 A=0.577 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0053321=BRCT=PU(1.6=7.7)
C2:
PF0053321=BRCT=FE(88.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGACGGCTTTAAGGACCTCA
R:
CGTCTGGTGCAATTGAAAAGCC
Band lengths:
127-165
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)