HsaEX0038313 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6431499-6439096:+
Coord C1 exon
chr8:6431499-6431586
Coord A exon
chr8:6436048-6436162
Coord C2 exon
chr8:6438953-6439096
Length
115 bp
Sequences
Splice sites
3' ss Seq
TTTGTGTTCTTTTTGCACAGCGT
3' ss Score
8.58
5' ss Seq
TAGGTAAGC
5' ss Score
8.89
Exon sequences
Seq C1 exon
ATGCAGGACAGCTGGAGCACACATTGATGAATCATTGTTCCCTGCAGCTAATATGAATGAACACTTATCAAGCCTAATTAAAAAAAAA
Seq A exon
CGTAAATGTATGCAGCCCAAAGATTTTAATTTTAAAACACCAGAAAATGATAAGAGATTTCAGAAGAAATTTGAGAAAATGGCTAAAGAGCTACAAAGGCAAAAAACAAATCTAG
Seq C2 exon
ATGATGATGTACCTATTCTCTTATTTGAATCTAATGGTTCATTAATATATACTCCCACAATTGAAATTAATAGTAGGCACCACAGCGCAATGGAGAAGAGATTACAAGAGATGAAGGAGAAAAGGGAAAATCTTTCCCCCACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX3-2/7=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.028 A=0.478 C2=0.469
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000344683fB19674
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACAGCTGGAGCACACATTGA
R:
GAAAGATTTTCCCTTTTCTCCTTCA
Band lengths:
218-333
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