HsaEX0038308 @ hg38
Exon Skipping
Gene
ENSG00000147316 | MCPH1
Description
microcephalin 1 [Source:HGNC Symbol;Acc:HGNC:6954]
Coordinates
chr8:6499852-6648504:+
Coord C1 exon
chr8:6499852-6499929
Coord A exon
chr8:6621454-6621691
Coord C2 exon
chr8:6642994-6648504
Length
238 bp
Sequences
Splice sites
3' ss Seq
TATCTCTGTCTGCCCCACAGCTG
3' ss Score
10.24
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
GTGCTATGGTCTTTAGAATTGGGTCACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCC
Seq A exon
CTGTGCCGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCAGCGATGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCACCTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGCCCTACAGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAG
Seq C2 exon
ATTCCATCACCCAGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCACAATGACAGTGACCTCACTGGCCTGTGGTGACTGCACACAGCTCGCAAAACTGTCTTTGGATGTTCAAATGAGAAACAAAACTGTGAAGAGAAGGAACTGGCGTATACAAGATGACTTCTGATATCATGTTTGCCATGTGTTGTGGTTCTTAAGAACTCATAGGTGACTTTCTGATGACTGAATGTCTGTTTCAGAGACGCTTCGGGCCTTTTTATTTTTATTTTATTTTTTATTTTTTGAGACGGAGTCCTGCCCTGTTTCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGTGTGCCACCATGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACGCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000147316_MULTIEX2-7/11=5-11
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0053321=BRCT=PD(6.6=15.4)
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000344683fB19668
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGTTCGAACTGTCTCACCAC
R:
TAAAAAGGCCCGAAGCGTCTC
Band lengths:
301-539
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