HsaEX1023161 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6455143-6477631:+
Coord C1 exon
chr8:6455143-6455252
Coord A exon
chr8:6477154-6477451
Coord C2 exon
chr8:6477594-6477631
Length
298 bp
Sequences
Splice sites
3' ss Seq
GTGGGGGATTCACTTGACAGGTG
3' ss Score
5.21
5' ss Seq
AAGGTTTTT
5' ss Score
3.43
Exon sequences
Seq C1 exon
GTGTTAAAAATAGACCAACAAGGCATGATGTTTTAGATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGTGGGAGAGGCAAAAAG
Seq A exon
GTGCAACAGAAGCACAAGCATTATTGTGCACCTGTGTCTGAAATGAGAATGAGGCTGCCTAGAAGTCTTGAGAAAAGTGGCTGACGAGTCTACAAAAACACCCTTCTTACCCTTTCTCACTTTGAAGTGCATGAAGACGTTGACACACTTGGAGGTCTGCTGGCTAACTGGTGGAACAGATTCCTGGGGGAAATTTTTTTGTTTTGCTCTTGTACCTCATGTCTGGATTATTTTGGATTGCTTTGGGGACAGTATCTGAGTTTCTATCTCTTGGCCTGTTTTTTCCAGGAATATAAAG
Seq C2 exon
CCAACAAGAACATTAGTCATGACAAGCATGCCATCTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX2-1/11=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.613 A=1.000 C2=0.760
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0053321=BRCT=PU(1.6=7.7)
Main Inclusion Isoform:
ENST00000344683fB19671
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
GTGTTAAAAATAGACCAACAAGGCA
R:
TCAGATGGCATGCTTGTCA
Band lengths:
148-446
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains