HsaEX0038313 @ hg19
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6289020-6296617:+
Coord C1 exon
chr8:6289020-6289107
Coord A exon
chr8:6293569-6293683
Coord C2 exon
chr8:6296474-6296617
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_MULTIEX1-2/3=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.022 A=0.453 C2=0.469
Domain overlap (PFAM):
C1:
PF0171613=MSP=PU(26.7=76.7)
A:
PF0171613=MSP=FE(44.2=100)
C2:
PF0171613=MSP=PD(26.7=46.9)
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:
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
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)