HsaEX0038306 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6455143-6499929:+
Coord C1 exon
chr8:6455143-6455252
Coord A exon
chr8:6477594-6477631
Coord C2 exon
chr8:6499852-6499929
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
GTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX2-2/11=C1-5
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.613 A=0.760 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0053321=BRCT=PU(1.6=7.7)
C2:
PF0053321=BRCT=PD(6.6=15.4)
Main Skipping Isoform:
ENST00000344683fB19671
Other Inclusion Isoforms:
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:
CGAACGGCTCCTCAGAAATCC
Band lengths:
114-152
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