HsaEX1023156 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6499852-6506191:+
Coord C1 exon
chr8:6499852-6499929
Coord A exon
chr8:6503216-6503387
Coord C2 exon
chr8:6506091-6506191
Length
172 bp
Sequences
Splice sites
3' ss Seq
TGTTCTGCCTCTGTGGATAGTAC
3' ss Score
6.31
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCC
Seq A exon
TACATTCCGTTCAAGTTGGAAGGACCACATGCATCAAACCACCAGCCTGTGAAAGTAAAACACAGAAGGAATTAGGAACTAGGTGATGCCAGCTCCCACCACGAAGACAGCAATACTCAGCTAAGGCAGGAGGCACACTGCAGGCGTGTGGAGTAGGCACATGCAGATGATG
Seq C2 exon
GTTCCTACATTGTTTCTTGGTGGTAACAGCTCAGTGACTTCATTTGATTCAGGTGAATGCAGATTGGACGGAAGTTTGCGTGTTCTATTCAGAATCCTTCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316-'50-45,'50-44,51-45
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.417 C2=NA
Domain overlap (PFAM):
C1:
PF0053321=BRCT=PD(6.6=15.4)
A:
NO
C2:
NA
Main Inclusion Isoform:
ENST00000344683fB19668
Main Skipping Isoform:
ENST00000344683fB19673
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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCTATGGTCTTTAGAATTGGGTCA
R:
TGAAGGATTCTGAATAGAACACGCA
Band lengths:
178-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains