HsaEX0038310 @ hg19
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6296474-6303068:+
Coord C1 exon
chr8:6296474-6296617
Coord A exon
chr8:6299588-6299677
Coord C2 exon
chr8:6301914-6303068
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
ATGAATACTTTGCTGGTGGCTTACACTCATCTTTTGATGATCTTTGTGGAAACTCAGGATGTGGAAATCAGGAAAGGAAGTTGGAAGGATCCATTAATGACATTAAAAGTGATGTGTGTATTTCTTCACTTGTATTGAAAGCAAATAATATTCATTCATCACCATCTTTCACTCACCTCGATAAATCAAGTCCTCAGAAATTTCTGAGTAATCTTTCAAAGGAAGAAATAAACTTGCAAAGAAATATTGCAGGTAAAGTAGTCACCCCTGACCAAAAGCAGGCTGCAGGTATGTCTCAGGAGACGTTTGAAGAGAAGTATCGTTTGTCTCCTACCTTATCTTCAACAAAAGGCCACCTTTTGATACATTCAAGACCCAGGAGTTCCTCAGTAAAGAGAAAAAGAGTATCACATGGCTCCCATTCACCTCCGAAGGAAAAATGCAAGAGAAAGAGGAGCACCAGGAGATCTATCATGCCGAGGCTGCAGCTGTGCAGGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316-'6-7,'6-6,7-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.469 A=0.516 C2=0.609
Domain overlap (PFAM):
C1:
PF0171613=MSP=PD(26.7=46.9)
A:
NO
C2:
PF122583=Microcephalin=WD(100=99.5)
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:
TAATAGTAGGCACCACAGCGC
R:
GGATCCTTCCAACTTCCTTTCCT
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
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)