HsaEX0038311 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6442067-6455252:+
Coord C1 exon
chr8:6442067-6442156
Coord A exon
chr8:6444393-6444505
Coord C2 exon
chr8:6455143-6455252
Length
113 bp
Sequences
Splice sites
3' ss Seq
TCTCCGTTAATGTTTTCCAGATG
3' ss Score
9.17
5' ss Seq
GATGTGTGT
5' ss Score
2.34
Exon sequences
Seq C1 exon
CTTCCCAAATGATTCAGCAGTCTCATGATAATCCAAGTAACTCTCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGTGTTCAG
Seq A exon
ATGAATACTTTGCTGGTGGCTTACACTCATCTTTTGATGATCTTTGTGGAAACTCAGGATGTGGAAATCAGGAAAGGAAGTTGGAAGGATCCATTAATGACATTAAAAGTGAT
Seq C2 exon
GTGTTAAAAATAGACCAACAAGGCATGATGTTTTAGATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGTGGGAGAGGCAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX3-6/7=4-C2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.551 A=0.604 C2=0.613
Domain overlap (PFAM):
C1:
NO
A:
PF122583=Microcephalin=WD(100=99.5)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCCAAATGATTCAGCAGTCTCA
R:
TTGCCTCTCCCACTTTTCTTCA
Band lengths:
194-307
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development