HsaEX0038311 @ hg19
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Coordinates
chr8:6299588-6312773:+
Coord C1 exon
chr8:6299588-6299677
Coord A exon
chr8:6301914-6303068
Coord C2 exon
chr8:6312664-6312773
Length
1155 bp
Sequences
Splice sites
3' ss Seq
TCTCCGTTAATGTTTTCCAGATG
3' ss Score
9.17
5' ss Seq
GAAGTATGT
5' ss Score
6.97
Exon sequences
Seq C1 exon
CTTCCCAAATGATTCAGCAGTCTCATGATAATCCAAGTAACTCTCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGTGTTCAG
Seq A exon
ATGAATACTTTGCTGGTGGCTTACACTCATCTTTTGATGATCTTTGTGGAAACTCAGGATGTGGAAATCAGGAAAGGAAGTTGGAAGGATCCATTAATGACATTAAAAGTGATGTGTGTATTTCTTCACTTGTATTGAAAGCAAATAATATTCATTCATCACCATCTTTCACTCACCTCGATAAATCAAGTCCTCAGAAATTTCTGAGTAATCTTTCAAAGGAAGAAATAAACTTGCAAAGAAATATTGCAGGTAAAGTAGTCACCCCTGACCAAAAGCAGGCTGCAGGTATGTCTCAGGAGACGTTTGAAGAGAAGTATCGTTTGTCTCCTACCTTATCTTCAACAAAAGGCCACCTTTTGATACATTCAAGACCCAGGAGTTCCTCAGTAAAGAGAAAAAGAGTATCACATGGCTCCCATTCACCTCCGAAGGAAAAATGCAAGAGAAAGAGGAGCACCAGGAGATCTATCATGCCGAGGCTGCAGCTGTGCAGGTCGGAAGACAGGCTGCAGCACGTGGCGGGACCTGCCCTGGAGGCTCTTAGCTGTGGGGAGTCTTCATATGATGACTATTTTTCACCTGATAATCTTAAGGAAAGGTATTCAGAGAATCTTCCTCCTGAATCTCAGCTGCCATCAAGCCCTGCTCAGTTGAGCTGCAGAAGTCTTTCTAAGAAGGAGAGAACAAGCATATTTGAAATGTCTGATTTTTCCTGCGTTGGCAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAAAAACCATCTCCAGTCCTCGGAAAACTGGAAATGGTGAAGGCCGTGCAACTTCGAGTTGCGTGACTTCTGCCCCTGAAGAAGCCCTAAGGTGTTGTAGACAGGCTGGGAAAGAAGACGCATGCCCAGAGGGAAATGGCTTTTCTTACACCATTGAGGACCCTGCTCTTCCAAAAGGACATGATGATGATTTAACTCCTTTGGAAGGAAGCCTTGAAGAAATGAAAGAAGCGGTTGGTCTGAAAAGCACACAGAACAAAGGTACCACTTCCAAAATATCAAACTCCTCTGAAGGCGAAGCCCAGAGTGAACATGAGCCATGTTTTATAGTTGACTGTAACATGGAGACGTCTACAGAAGAGAAGGAAAACTTACCCGGAGGATACAGTGGAA
Seq C2 exon
GTGTTAAAAATAGACCAACAAGGCATGATGTTTTAGATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGTGGGAGAGGCAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.516 A=0.609 C2=0.568
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:
CTTTTTGCCTCTCCCACTTTTCT
Band lengths:
198-1353
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)