HsaEX1046087 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6444393-6455252:+
Coord C1 exon
chr8:6444393-6444505
Coord A exon
chr8:6444645-6445547
Coord C2 exon
chr8:6455143-6455252
Length
903 bp
Sequences
Splice sites
3' ss Seq
CTTGCAAAGAAATATTGCAGGTA
3' ss Score
-0.17
5' ss Seq
GAAGTATGT
5' ss Score
6.97
Exon sequences
Seq C1 exon
ATGAATACTTTGCTGGTGGCTTACACTCATCTTTTGATGATCTTTGTGGAAACTCAGGATGTGGAAATCAGGAAAGGAAGTTGGAAGGATCCATTAATGACATTAAAAGTGAT
Seq A exon
GTAAAGTAGTCACCCCTGACCAAAAGCAGGCTGCAGGTATGTCTCAGGAGACGTTTGAAGAGAAGTATCGTTTGTCTCCTACCTTATCTTCAACAAAAGGCCACCTTTTGATACATTCAAGACCCAGGAGTTCCTCAGTAAAGAGAAAAAGAGTATCACATGGCTCCCATTCACCTCCGAAGGAAAAATGCAAGAGAAAGAGGAGCACCAGGAGATCTATCATGCCGAGGCTGCAGCTGTGCAGGTCGGAAGACAGGCTGCAGCACGTGGCGGGACCTGCCCTGGAGGCTCTTAGCTGTGGGGAGTCTTCATATGATGACTATTTTTCACCTGATAATCTTAAGGAAAGGTATTCAGAGAATCTTCCTCCTGAATCTCAGCTGCCATCAAGCCCTGCTCAGTTGAGCTGCAGAAGTCTTTCTAAGAAGGAGAGAACAAGCATATTTGAAATGTCTGATTTTTCCTGCGTTGGCAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAAAAACCATCTCCAGTCCTCGGAAAACTGGAAATGGTGAAGGCCGTGCAACTTCGAGTTGCGTGACTTCTGCCCCTGAAGAAGCCCTAAGGTGTTGTAGACAGGCTGGGAAAGAAGACGCATGCCCAGAGGGAAATGGCTTTTCTTACACCATTGAGGACCCTGCTCTTCCAAAAGGACATGATGATGATTTAACTCCTTTGGAAGGAAGCCTTGAAGAAATGAAAGAAGCGGTTGGTCTGAAAAGCACACAGAACAAAGGTACCACTTCCAAAATATCAAACTCCTCTGAAGGCGAAGCCCAGAGTGAACATGAGCCATGTTTTATAGTTGACTGTAACATGGAGACGTCTACAGAAGAGAAGGAAAACTTACCCGGAGGATACAGTGGAA
Seq C2 exon
GTGTTAAAAATAGACCAACAAGGCATGATGTTTTAGATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGTGGGAGAGGCAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX3-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.604 A=0.601 C2=0.613
Domain overlap (PFAM):
C1:
PF122583=Microcephalin=WD(100=99.5)
A:
PF122583=Microcephalin=WD(100=99.5)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
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:
TGAATACTTTGCTGGTGGCTT
R:
CTTTTTGCCTCTCCCACTTTTCT
Band lengths:
222-1125
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains