HsaEX0038310 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6438953-6455252:+
Coord C1 exon
chr8:6438953-6439096
Coord A exon
chr8:6442067-6442156
Coord C2 exon
chr8:6455143-6455252
Length
90 bp
Sequences
Splice sites
3' ss Seq
TGTCTTGGTCCTGTTTTTAGCTT
3' ss Score
8.49
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
ATGATGATGTACCTATTCTCTTATTTGAATCTAATGGTTCATTAATATATACTCCCACAATTGAAATTAATAGTAGGCACCACAGCGCAATGGAGAAGAGATTACAAGAGATGAAGGAGAAAAGGGAAAATCTTTCCCCCACCT
Seq A exon
CTTCCCAAATGATTCAGCAGTCTCATGATAATCCAAGTAACTCTCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGTGTTCAG
Seq C2 exon
GTGTTAAAAATAGACCAACAAGGCATGATGTTTTAGATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGTGGGAGAGGCAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX3-4/7=3-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.469 A=0.551 C2=0.613
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACAGCGCAATGGAGAAGAGA
R:
TGCCTCTCCCACTTTTCTTCA
Band lengths:
169-259
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